Targeted Destruction of Intracellular DNA Using a CRISPR-Based Genetic Device that can be Carried Indefinitely in the Host Genome ARGIVES By MASSACHUSETTS INSTITUTE OF TECHNOLOLGY Brian James Caliando JUN 3 0 2015 M.S., Stanford University (2008) B.A., Stanford University (2006) LIBRARIES Submitted to the Department of Biological Engineering in Partial Fulfillment of the Requirements for the Degree of Doctor of Philosophy in Biological Engineering At the MASSACHUSETTS INSTITUTE OF TECHNOLOGY June 2015 @ 2015 Massachusetts Institute of Technology. All Rights Reserved. Signature redacted A u th o r............................................................................................ Brian J. Caliando Department of Biological Engineering February 23, 2015 Certified by............................................................................. ............. Signature redacted Christopher A. Voigt Professor of Biological Engineering Thesis Advisor Signature redacted Approved by........................................................................... Forest M. White Associate Professor of Biological Engineering Graduate Program Chair, Department of Biological Engineering This doctoral thesis has been examined by a committee of the Department of Biological Engineering as follows: Certified by Signature redacted .................................................. .. 9Fe .ihn Feang Assistant Professor of Biological Engineering W.M. Keck Career Development Assistant Professor of Brain and Cognitive Sciences TWe-sis Committee Chair Signature redacted Certified by ............................................................................................................................................................ Christopher A. Voigt Professor of Biological Engineering Thesis Advisor Signature redacted Certified by ........................................................................... Kristala L. J. Prather Associate Professor of Chemical Engineering Committee Member Targeted Destruction of Intracellular DNA Using a CRISPR-Based Genetic Device that can be Carried Indefinitely in the Host Genome by Brian James Caliando Submitted to the Department of Biological Engineering on February 23th, 2015 in Partial Fulfillment of the Requirements for the Degree of Doctor of Philosophy in Biological Engineering Abstract Environmental release of synthetic DNA resulting from the disposal of spent microbial biocatalyst potentially represents an ecological risk to the environment or a financial risk to biotechnology firms, who might have their intellectual property stolen as a consequence. Thus, a genetically-encoded device that is capable of degrading DNA in a controlled manner would be a valuable and enabling tool. To that end, we have constructed a modular, switchable, genetically-encoded E. coli device for the controlled destruction of user-specified DNA targets in vivo that is based on the organism's native type-IE CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) DNA interference (DNAi) pathway. The optimized DNAi device is comprised of two components: a chromosomallyintegrated actuator element, which encodes the minimal set of CRISPR-associated (cas) genes required for DNAi activity, and a reprogrammable targeting plasmid, which encodes the CRISPR array specifying the DNA target(s). The device is stable in the OFF state, with >98% of cells retaining a low-copy DNA target over the course of an 8-hr Upon DNAi activation, the target plasmid is lost from all but ~1 in 108 cells and there is a corresponding >10,000-fold decrease in the abundance of the target DNA sequence as recovered by PCR. When the device is targeted to the host genome instead of a plasmid, activation also results in the self-destruction of the experiment. host, killing all but -1 in 10 8 of cells in the ON state but with no appreciable effect on cell viability in the OFF state. Further characterization has also revealed that when DNAi activity is maintained in the OFF state, the overall maintenance cost to the host strain is exceedingly low; the device remains functionally stable over hundreds of cell generations in continuous culture, has little-to-no impact on host growth or plasmid stability, and doesn't interfere with ectopic over-expression of other proteins. The DNAi device is therefore a powerful tool that can potentially be combined with other genetically engineered systems to create safer and more secure forms of biotechnology. Thesis Supervisor: Christopher A. Voigt Title: Professor of Biological Engineering 5 6 Acknowledgements First and foremost, I would like to thank my advisor, Chris Voigt, for his mentorship and support and for his seemingly unshakable trust in my abilities. I am also very grateful to my committee members Feng Zhang and Kristala Prather for their advice and guidance over these past years. As a member of Voigt Lab, I have been unfathomably lucky to work with some of the most intelligent, capable, and all-around excellent human beings every single day. We've shared scientific ideas, lab memes, countless cups of coffee, and an embarrassingly large quantity of alcohol, and in doing so we've become irreplaceable parts of each other's lives. As such, I am grateful to them all. In particular, from my time at UCSF, I'd like to give special thanks Dan Widmaier and Ethan Mirsky, who both were instrumental in showing me the ropes when I first came to Voigt Lab as a rotation student so long ago. Without their help, I'd probably still be trying to use MEGAWHOP to build my constructs on Chris' advice. From my time at MIT, I am especially grateful to Jenn Brophy, Miryoung Song, and Brynne Stanton. When things looked bleakest, I could always trust them to help catch me before I slipped down the rabbit hole into despair. In addition, I have been especially impressed by the undergraduates that I have encountered since arriving at MIT, and my UROP, Rui Wang, represents the very best among them. Her intelligence, curiosity, kindness, and dedication have made me proud to be her mentor. I would also like to reserve a special thanks for the lab managers and administrators, both past and present, who have kept Voigt Lab whirring like a well-oiled machine. At UCSF, our lab manager Rena Hill not only knew how to keep our wayward bunch in line, but also was a pleasure to share a bay with. Her keen sense of humor was rivaled only by her professionalism. At MIT, Barbara Karampalas and Terry King have risen to meet every single challenge associated with a lab that has nearly doubled in size in just a few short years. Their dedication, commitment, and understanding are truly unmatched, and the lab would be completely adrift without their watchful guidance. I would also like to thank John and Ellen Essigmann and the rest of the Simmons Hall GRTs and staff for welcoming me into their dorm community as a member of the family. Serving as a GRT afforded me the opportunity to give some of myself back to MIT, and doing so kept me more firmly grounded when things seemed overwhelming. I wouldn't trade the experience,.or the friends I made there, for anything. In addition, I owe an extra special debt of thanks to Ruby Yu. As my companion during what were probably the most difficult periods of my time at MIT, she stood by me with more patience, kindness, and caring than I probably deserved. She will forever be one of my closest friends. To my parents, Catherine and Jim, I wish to express my deepest love and gratitude for all of their emotional support, especially during this last home stretch of my scholastic journey. I am also equally grateful to my brother Michael, his wife Kristina, and the rest of my extended family for their collective belief in me and for their constant encouragement. I would also like to acknowledge the numerous funding sources that made this work possible: the NSF Synthetic Biology Engineering Resource Center (SynBERC), the National Institutes of Health (NIH), the Defense Advanced Research Projects Agency (DARPA), the UCSF TETRAD Program, and the MIT Bioengineering department. 7 A b stra ct ......................................................................................................................................................... Acknow ledgem ents....................................................................................................................................... Table of Contents .......................................................................................................................................... List of Figures .............................................................................................................................................. List of Tables ............................................................................................................................................... Perm issions ................................................................................................................................................. 5 7 8 10 11 12 1. Introduction.......................................................................................................................................... 13 2. M aterials and M ethods ....................................................................................................................... 2.1. Strains, Plasm ids, and M edia..................................................................................................... 2.2. Strain Construction ...................................................................................................................... 17 17 17 2.2.1. FLP-Mediated Integration ................................................................................................ 2.2.2. IntS-M ediated Integration ................................................................................................ 2.3. Plasm id Stability Assay ("Electroporation-based," Am picilin)................................................. 2.4. Preparation of Phagem id Virion Stock Solutions...................................................................... 2.5. Phagem id Virion Transduction Blocking Assay......................................................................... 2.6. Plasm id Knockout Assay .......................................................................................................... 2.6.1."Plate-based," Spectinom ycin ........................................................................................... 2.6.2. "Cytom etry-based," Red Fluorescent Protein ................................................................. 2.7. Plasm id Knockout Kinetic Assay (PAM Experim ents)............................................................... 2.8. Survivor Analysis Assay (Plasm id Knockout Experim ent) .......................................................... 2.9. Isolation of Target Plasm id DNA ................................................................................................ 2.10. Isolation of Target Chrom osom al DNA ....................................................................... 2.11. Quantitative PCR ............................................................................................................... 2.12. M easuring the Im pact on Cell Growth .......................................................................... 2.12.1. "Plate-based," CFU/m L ................................................................................................ 2.12.2. "OD600-based", Doubling Tim e..................................................................................... 2.12.3. "Cuvette-based", Cell Density....................................................................................... 2.13. Evolutionary Stability Experim ents................................................................................ 2.14. Cell Death Assays (DNAi-M ediated Killing)................................................................... 2.15. Survivor Analysis Assay (Cell Death Experim ent).......................................................... 2.16. Cell Death Assays (Integrase-M ediated Killing) ............................................................ 17 18 3. 19 20 20 21 21 22 22 23 23 24 24 25 25 25 26 26 27 27 28 Construction and Optimization of a CRISPR DNA-interference device for Escherichia coli.............. 29 3.1. Device Design ............................................................................................................................... 29 3.2. Initial Characterization of Unstable DNAi Devices ................................................................... 34 3.3. Characterization of Stable DNAi Devices Harboring Chromosomal Actuators......................... 37 3.4. Param eterization and Optim ization of DNAi Device Kinetics................................................... 41 3.4.1. Introduction ......................................................................................................................... 41 3.4.2. cRNA Expression Level..................................................................................................... 42 3.4.3. Spacer Sequence .................................................................................................................. 43 3.4.4. AraC Expression Levels..................................................................................................... 8 45 3.4.5. Proto-spacer Adjacent Motif (PAM ) ............................................................................... 3.4.6. Actuator Copy Number ..................................................................................................... 3.5. Optimization of DNAi Device Knockout Efficiency ................................................................... 3 .5 .1 . Intro d u ctio n ......................................................................................................................... 3.5.2. Design Parameters Affecting Plasmid Knockout Efficiency ............................................ 3.5.3. Analysis of Plasmid Knockout Survivors........................................................................... 3.5.4. Design Principles for Optimizing Plasmid Knockout Efficiency........................................ 47 51 53 53 54 55 57 4. Characterization of the Optimized CRISPR DNAi Device ................................................................. 4.1. Scope of DNAi Device Plasmid Knockout Functionality........................................................... 4.1.1. Effect of Target Copy Number on DNAi Knockout Efficiency and Kinetics...................... 4.1.2. DNAi-Mediated Depletion of Target Plasmid DNA ......................................................... 4.2. Impact of the DNAi Device on Host Growth and Genetic Stability ......................................... 4.2.1. Effect of DNAi Activity on Host Growth.......................................................................... 4.2.2. Long-term Stability of DNAi Device Function ................................................................. 4.2.3. Long-term Stability of Host Metabolism while Carrying the DNAi Device ....................... 4.3. Targeting of DNAi Activity to the Host Genome...................................................................... 4.3.1. Using the DNAi Device to Effect Cell Death ..................................................................... 4.3.2. Analysis of Cell Death Assay Survivors............................................................................. 4.3.3. DNAi-Mediated Depletion of Chromosomal DNA ......................................................... 4.3.4. Orthogonal Cell Death Mechanisms Increase Killing Efficiency ....................................... 59 59 59 60 61 61 62 63 64 64 67 69 70 5. Conclusions and Discussion.................................................................................................................. 73 A. Supporting Information........................................................................................................................83 A.1 Supplementary Figures....................................................................................................... 83 93 A.2 Supplementary Tables ......................................................................................................... B ib liog ra p h y .............................................................................................................................................. 9 1 01 List of Figures Figure 1.1: Biochemical mechanism of CRISPR-mediated DNA interference (DNAi) ............................. Figure Figure Figure Figure Figure 16 Figure Figure Figure Figure Figure Figure Figure Figure Figure 3.1: Schem atic of the DNAi Device ............................................................................................ 29 3.2: Effect of cas over-expression on cell growth ........................................................................ 30 3.3: Genetic instability of the pWUR cas over-expression system .............................................. 31 3.4: Schematic of M13-based phagemid transduction blocking assay....................................... 35 3.5: Comparison of phagemid transduction efficiencies for DNAi devices with different actuator co n fig u ratio n s ............................................................................................................................... 36 3.6: Plasmid knockout efficiencies with the DNAi actuator is carried on different plasmid backbones and genom ic configurations ................................................................................... 39 3.7: Comparison of plasmid knockout kinetics in early genomic actuator prototypes ............... 40 3.8: Effects of crRNA expression level on target plasmid knockout kinetics .............................. 42 3.9: Effect of spacer sequence on target plasmid knockout kinetics ......................................... 44 3.10: Optimization of araC expression levels with respect to target plasmid knockout kinetics ... 46 3.11: Effect of PAM sequence on phagemid transduction efficiency ......................................... 48 3.12: Effect of PAM sequence on the kinetics of plasmid knockout ........................................... 49 3.13: Effect of actuator copy number on the kinetics of target plasmid knockout .................... 52 3.14: Systematic optimization of target plasmid knockout efficiency ........................................ 54 3.15: Characterization of DNAi device functionality and escape mutants ................................. 56 Figure Figure Figure Figure Figure Figure Figure Figure 4.1: Plasmid knockout kinetics and target DNA depletion using the optimized DNAi device ........ 60 4.2: Growth impact of strains carrying the DNAi device ............................................................ 61 4.3: Long term plasmid knockout performance of the DNAi device in continuous culture ........ 63 4.4: Stability of target plasmid protein expression during cell passaging experiments..............64 4.5: Cell killing dynamics upon targeting of Cas activity to the genome .................................... 65 4.6: DNAi-mediated cell killing in the presence and absence of antibiotic selection..................66 4.7: DNA recovery as a function of distance from the proto-spacer .......................................... 69 4.8: Combining DNAi-mediated and integrase-mediated cell killing methods in a single host ...... 71 Figure Figure A.1: Actuator plasm id m aps......................................................................................................... 83 Figure A.2: CRISPR targeting plasmid and basic target plasmid maps...................................................84 Figure A.3: Strain construction plasm id m aps ......................................................................................... 85 Figure A.4: Fluorescence m easurement plasm id maps.......................................................................... 86 Figure A.5: Schematic of FLP-mediated actuator genomic integration methodology ........................... 87 Figure A.6: Schematic of Int5-mediated actuator genomic integration methodology .......................... 88 Figure A.7: Schematic of three-plasmid, two-input cas/CRISPR over-expression system ..................... 89 Figure A.8: Characterization of PBAD input ... ..................................... .... .......................................... 90 Figure A.9: Maps of target plasmids used in PAM experiments............................................................ 91 Figure A.10: The dynamics of plasmid loss for each active PAM sequence .......................................... 92 10 List of Tables Table 3.1: Sum mary of kinetic parameters for active PAM s ................................................................. 50 Table 4.1: Characterization of suicide assay survivors........................................................................... 68 Table A.1: CRISPR element sequences................................................................................................... 93 Table A.2: Host chrom osomal modifications......................................................................................... 94 Table A.3: Genom ic modification primers ............................................................................................. 95 Table A.4: Int5-specific recom bination sites........................................................................................... 96 Table A.5: qPCR primer sets........................................................................................................................ 97 Table A.6: Constitutive promoter sequences ........................................................................................ 98 Table A.7: R BS sequences ........................................................................................................................... 99 Table A.8: Classification of DNAi survivor LOF m utations via genetic com plementation ........................ 11 100 Portions of the following document are reprinted and/or adapted with permission from Caliando, B.J. & Voigt, C.A., Stable integration of CRISPR for targeted destruction of plasmid DNA. Nature Communications (in press). Copyright 2015 Nature Publishing Group, Macmillan Publishers Ltd. 12 1. Introduction The ability to program cells to eliminate engineered DNA at a defined time point or change in environments would benefit many applications in biotechnology. For example, after bio-manufactu ring a chemical, cells could be programmed to degrade their DNA at the end of the process or when they are removed from a defined medium. This would aid the protection of sequence information as a trade secret, make it easier to remove DNA contamination from a product, reduce the cost of biomass disposal, and decrease the amount of DNA in the environment after an accidental release. There are similar needs for "out of the bioreactor" applications, such as using engineered cells as living therapeutics (e.g., in the gut microbiome) or in forming associations with crop plants in a field1 . In these cases, it is impossible to recollect cells for disposal, so they need to be programmed to degrade their own DNA when they leave a defined environment or after a defined time period. Various genetic switches have been developed that induce cell death2 . The actuation is - based on toxic proteins that are under tight regulatory control to avoid background expression3 4 and have been combined with synthetic genetic circuits that trigger cell death under a shift in environmental conditions or change in cell state . Inducing cell death does not address the problem of the release of DNA, which persists after cells die or are killed. Indeed, waste streams from fermenters are rich with recombinant DNA, even when the cells have been inactivated by heat, pH, and antibiotics' 0 and, in fact, these methods of rapid cell death exacerbate the release of extracellular DNA". The waste biomass of engineered microbes is often used as agricultural . fertilizer (e.g., NovoGro TM), and this has been shown to contain significant amounts of DNA1 0 Furthermore, DNA molecules are stable and, once introduced, plasmid and genomic DNA can be recovered from environmental samples via PCR for 1-5 monthsl1 - 1 3 and is likely to be detectible longer with advances in deep sequencing1 4 . In one study, 35% of plasmid DNA molecules that were exposed to the extreme heat and pressures of atmospheric re-entry on the surface of a rocket still retained their biological function's The ease of recovering DNA from environmental samples poses a challenge for the biotech industry. First, the value and competitive advantage of a company is largely in its engineered DNA constructs and strains and these involve large financial investments and 13 development time. Protecting this information as a trade secret is nearly impossible when samples can be easily recovered from a waste stream (or as a contaminant in a consumer product), sequenced, and then rebuilt using chemical DNA synthesis. Therefore, the copying of the products of genetic engineering no longer requires the transfer or theft of intact DNA molecules or living cells. In the future, it may be possible to access complete organisms through the synthesis and transplantation of entire genomes16-2 2 Once DNA is stably introduced into cells, removing it is tedious and difficult to scale to an industrial process. The traditional way to remove plasmids is to "cure" them by culturing on nonselecting media over multiple generations 2 3 24 , . Another method is to express non-specific DNA nucleases, which efficiently cause cell death (1:105)8, but their non-specificity can severely inhibit cell growth even when maintained in the uninduced state 2 . DNA can also be removed via downstream processing of the fermentation product or waste streams. This is necessary for the production of therapeutic proteins and DNA (for gene therapy and vaccines), where the US Food . and Drug Administration (FDA) enforces allowable limits for contaminant DNA (10 ng/dose) 25 - 27 This either requires high-performance purification methods and/or removal of DNA specifically via ion exchange columns or membrane filtration, all of which are expensive and difficult to . implement 25 , 27,28 We have constructed a genetic device whose input is a transcriptional signal and whose output is the targeted degradation of DNA. Defining a transcriptional input enables it to be connected to the output of inducible systems, environmental sensors, or genetic circuits 29 . The actuation is based on the RNA guide-directed DNAse machinery from Type-I CRISPR defense systems [reviewed in 30,31] (Figure 1.1). CRISPR is an "immune system" for prokaryotes that prevents transduction by phage and conjugative plasmids by targeting their DNA for degradation30-33. The targeted DNA sequences are specified by the CRISPR array, which is a series of ~30-40 bp spacers separated by short palindromic repeats30-33. The array is transcribed as a pre-crRNA and is processed into shorter crRNAs that associate with the Cas protein complex to target complementary DNA sequences known as proto-spacers 34--46. These proto-spacer targets must also have an additional neighboring sequence known as proto-spacer adjacent motif (PAM) that is required for target recognition 4 5,4 7- 51. After binding, a Cas protein complex serves as a DNA 14 endonuclease to cut both strands at the target 4 4 ,4s and subsequent DNA degradation occurs via exonuclease activity4 4 . The RNA-guiding capability of the Cas protein(s) has been widely applied to problems in biotechnology, including genome editing and synthetic regulations2 -s. We have built a device that stably maintains all of the necessary components for DNAimediated nuclease activity and, only when induced, functions to degrade target DNA without affecting non-targeted DNA. This required engineering the device to retain a large dynamic range when induced, yet have almost no basal activity when carried in the host genome in the uninduced state. To be useful, the device must not impose a growth burden on the host, remain stable and active over many generations, and not reduce target DNA prior to induction (e.g., lower plasmid copy number). 15 Pa3 PcosA PCRSpR Spacer Repeat (32bp) (29bp) CRISPR cos genes Cas/CRISPR Pre-crRNA CasABCDE ("Cascade") Cas3 (nuclease) CasE 2 Effector Complex 4 ? Target Recognition -- -- crRNA guides ------ Target DNA DNA Scan 3 (1-D) Proto-spacer PAM Cas3-Mediated Complementary Strand (neg. super-coiled) 5'-CCG 'CGcrRNA Spacer Proto spacer -PAM srpand Target Recognition R-Loop 6 7 Cas3-Medtated Resection Target Cut Recycled (?) Figure 1.1 Biochemical mechanism of CRISPR-mediated DNA interference (DNAi). (1) Cas3, CasABCDE, and the precrRNA are expressed from the CRISPR locus (casi and cas2, which are immediately downstream from casE, are omitted for clarity). CasABCDE associates to form a protein complex ('Cascade'), and CasE processes the pre-crRNA into singlespacer crRNA units. (2) Cascade binds a single crRNA to form an effector complex, which then binds non-specifically to negatively supercoiled DNA. (3) The effector complex searches the DNA molecule for its cognate proto-spacer by means of one-dimensional facilitated diffusion. (4) Upon encountering a matching proto-spacer with a valid PAM sequence, the dsDNA is melted and the crRNA base pairs with the complementary DNA strand forming an R-loop. (See boxed inset for detail.) (5) This recognition event transiently recruits Cas3, which makes a nick in the displaced strand via ssDNA endonuclease activity. It then begins an initial resection of the exposed ssDNA ends by means of its 3' exonuclease/helicase activity. (6) The crRNA-complimentary strand is eventually exposed, and Cas3 makes a second endonucleolytic cut creating a double strand break in the target. It is unknown whether the effector complex is recycled following target cleavage. (7) Resection of the target continues in part via Cas3-mediated exonuclease activity until the target is repaired or degrades completely. 16 2. Materials and Methods 2.1 Strains, plasmids, and media. All strains were derived from a triple-knockout E. coli MG1655 A(araC-araBAD) APlacl:Lacl A(cas3-CRISPR) parent (Table A.2). Standard plasmids were cloned and propagated using an E. coli Mach1-T1R host (F- p80(/acZ)AM15 A/acX74 hsdR(rK-mK+) ArecA1398 endAl tonA) (Life Technologies), while plasmids containing an R6Ky origin of replication were cloned and propagated using an E. coli TransforMax EC100D pir-116 host (F mcrA A(mrr-hsdRMS-mcrBC) qp8OdlacZAM15 AacX74 recAl endAl araD139 A(ara, leu)7697 galU galK A- rpsL (StrR) nupG pir116(DHFR)) (Epicenter). Actuator plasmids were constructed using a pOR10 backbone60 and . encode cas components amplified from plasmids pWUR397 (cas3) and pWUR400 (casABCDE)34 All target plasmids and all CRISPR targeting plasmids were derived from a pUC119 backbone". Cells were plated on LB (LB Miller Medium, Difco, #244620) supplemented with 1.5% (w/v) agar (Bacto Agar, Difco, #214010), and liquid cultures were grown in 2YT media (2xYT (Yeast Extract Tryptone) Medium, Difco #244020) for all experiments. Ampicillin (100 tg/ml; sodium ampicillin, Gold Biotechnology #A-301-25), kanamycin (50 pg/ml; kanamycin sulfate, Gold Biotechnology #K-120-10), spectinomycin (100 ig/ml; spectinomycin dihydrochloride, Gold Biotechnology #S140-5), and/or chloramphenicol (35 pg/ml; USB #23600-25G) were used as appropriate. L- arabinose (Ara; Sigma-Aldrich #A3256-100G) or glucose (Glc; BDH #BHD8005-500G) was used as inducer or repressor, respectively. 2.2 2.2.1 Strain construction FLP-mediated integration A genomic knockout of the CRISPR-cas locus (Table A.2) was performed in a wild-type MG1655 background via the XRED method using a linear kanamycin-resistance cassette amplified from pKD136 1 (Table A.3). The FRT-flanked kanamycin marker was then removed via FLP recombinase (pCP20) 9 1 leaving a single FRT site scar sequence. In the process, the temperature- sensitive pCP20 was cured from the cell. The resulting marker free strain was then re- 17 transformed with pCP20, FLP was expressed by brief thermal induction at 37*C, and the resulting cells were prepared as electrocompetent and transformed with the ~11kb DNAi actuator integrating plasmid pACT-A (Figure A.1). FLP-mediated recombination between the plasmidborne FRT site and the chromosomal FRT site then creates a chromosomally-integrated actuator sequence within the donor strain (Figure A.5). Recombinants were selected by growth on LB plates containing kanamycin at 37*C following a 3-hr recovery in 2YT at 37*C. Successful chromosomal integration at the targeted locus was confirmed with colony PCR, and loss of the temperature-sensitive pCP20 expression plasmid was confirmed by Amps phenotype. Using this modified strain as a transduction donor, the antibiotic marker-linked integration locus was then transferred to the final triple-knockout recipient host (Table A.2) via PMir viral transductions 6 3 to yield the 1xA DNAi device strain. The KanR marker and R6K origin could not be removed. A schematic depicting the sequences of manipulations is given in Figure A.5. 2.2.2 Int5-mediated integration Genomic knock-outs were performed via the XRED method using a linear kanamycin- resistance cassette amplified from pKD13 62 (Table A.3). Knock-ins of the ~11kb DNAi actuator & plasmids (pACT-B, & pACT-C, Figure A.1) or their fluorescence measurement plasmids (pGFP-B pGFP-C, Figure A.4) were achieved by adapting high-efficiency site-specific chromosomal integrations 6 4 . First, the Streptomyces phage PhiK38-1 attB site65 (Figure A.3, Table A.4) was inserted into the host chromosome via the ARED method. Next, the linked KanR marker was removed via pCP20 62, and the resulting attB+ Kans host was transformed with a temperaturesensitive plasmid (plnt5ts, AmpR) expressing the cognate phage integrase Int5 under the control of a PBAD promoter 65 (Figure A.3). Transformants carrying the integrase plasmid were grown in 2YT containing ampicillin and 1 mM arabinose in a shaking incubator at 30"C and 250 rpm to an OD6oo "0.5, at which point electrocompetent cells were prepared. The resulting Int5-expressing cells were transformed with an integrative actuator plasmid (pACT-B or pACT-C, KanR, nonreplicative R6Ky origin) containing the PhiK38-1 attP site via electroporation and subsequently recovered in 2YT at 37"C for 3 hrs. Recombinants were selected for by growth on LB plates containing kanamycin at 37"C. Successful chromosomal integration at the targeted locus was 18 confirmed with colony PCR, and loss of the temperature-sensitive Int5 expression plasmid was confirmed by Amps phenotype. For each modified genomic locus, a corresponding donor strain in a wild-type MG1655 background was created. These antibiotic marker-linked loci were then serially transferred to the final recipient host via Pivir viral transductions". Finally, the genomically-integrated FRT-flanked R6Ky origin and kanamycin resistance marker was removed by expression of FLP recombinase following transformation with temperature-sensitive plasmid pCP20 (AmpR, CmR) 6 2 . Loss of the FRT-flanked region and curing of pCP20 was subsequently confirmed by colony PCR and the presence of Kans, Amps, and Cms phenotypes. The 1XB and lxc DNAi devices contain either the pACT-B, or the pACT-C actuator chromosomally integrated at the native CRISPR-cas locus, respectively. The 3 XB and 3Xc DNAi device both contain the pACT-B actuator integrated at both the araC-araBAD and the CRISPR-cas loci, but the 3 XB device contains the pACT-B actuator chromosomally integrated at the Lad locus, while the 3xc device has the pACT-C actuator integrated there instead (Tables A.2 and A.3). The 3x GFP strain was constructed identically, except with pGFP-B or pGFP-C chromosomally integrated in lieu of pACT-B or pACTC, respectively. Each copy of the actuator or GFP plasmid is associated with its own copy of the araCgene, which is under control of either its native Pcpromoter (pACT-C) or a constitutive PJ23117 promoter (pACT-A, and pACT-B). A schematic depicting the sequences of manipulations is given in Figure A.6. 2.3 Plasmid stability assay ("electroporation-based," ampicillin). Host cells containing a DNAi device (pWUR397/pWUR400, KanR, StrR) and an RFP' target plasmid (AmpR) were prepared as electrocompetent aliquots and then frozen at -80C until needed. As required, frozen aliquots were thawed and transformed with 100 ng CRISPR targeting plasmid (CmR) via electroporation, and then recovered for 1 hr at 37*C without shaking. The fraction of host cells retaining the target plasmid (Target') was calculated from the ratio of colony forming units obtained from plating samples onto both target-selective (+ampicillin) and nonselective (-ampicillin) LB plates containing all other appropriate antibiotics to select for all actuator and CRISPR targeting components. 19 2.4 Preparation of phagemid virion stock solutions. The viral origin of replication (bp 5505-5811) was deleted from M13KO77 4 to create M13Aori (KanR, p15A), a packaging-defective viral helper plasmid that enables the packaging and secretion of phagemids supplied in trans but is incapable of infectious self-propagation. MG1655 (F-) cells were contransformed with M13Aori and either a pPAM-TC (RFP-, StrR) or a pPAM-NNN (64 PAM library, RFP-, StrR) target plasmid. Single colonies were selected by growth on kanamycin and spectinomycin, and were used to inoculate 2YT containing the appropriate antibiotics. Samples were grown for 24 hr at 370 C at 250 rpm. The cultures were centrifuged at 4,000 rpm at 4 0 C, and the virion-containing supernatant was washed with chloroform, centrifuged again at 4,000 rpm, and the virion-containing aqueous layer was extracted. High levels of RFP expression from pPAM-NNN-RFP in combination with M13 viral protein expression are lethal to the host, and so these plasmids could not be similarly packaged in this manner. 2.5 Phagemid virion transduction blocking assay. Host receiver cells (MG1655 F') were co-transformed with a p15A-based actuator plasmid (pACT-02, KanR) and either an on-target (pCR-X, CmR) or off-target (pCR-N2, CmR) CRISPR targeting plasmid. Single colonies were selected by growth on kanamycin and chloramphenicol plates and were used to inoculate 2YT containing the appropriate antibiotics. Samples were grown overnight in a shaking incubator at 37'C and 250 rpm, back-diluted to OD 6oo ~0.05 into fresh 2YT containing antibiotics, induced with 2mM Ara, and then grown for an additional ~3-4 h at 37*C and 250 rpm until OD 600 0.3-0.7. Cultures were concentrated 50-fold and split into 10 gl aliquots. To each induced aliquot, 10 pi of target plasmid phagemid (pPAM-NNN, StrR) stock solution (10-fold dilution, Methods) was added. Infections were incubated at room temperature for 5 min, diluted with 80 p] of additional 2YT, and recovered at 37*C for 1 hr without shaking. The titer of target-positive transductants (in cfu/gl) was then measured by plating 10-fold serial dilutions of each infection onto LB containing spectinomycin. The raw relative transduction efficiency (RTERAW) for each PAM phagemid in the library was then calculated as (# transductants X strain)/(# transductants N2 strain). This raw value incorporates both CRISPR-dependent and CRISPR-independent differences in transduction efficiency between the on-target (X) and off20 target (N 2 ) strains. Therefore, in order to control for any possible CRISPR-independent differences in transduction, infection with a control phagemid (pPAM-TC), which entirely lacked proto-spacer X, was similarly quantified for both strains. The final, corrected relative transduction efficiency (RTE) was then calculated as RTE = K x RTERAW, where K is the CRISPRindependent correction factor equal to (# transductants N 2 strain)Tc/(# transductants X strain)Tc for the pPAM-TC transductions. Plasmid knockout assays 2.6 2.6.1 "Plate-based," spectinomycin Host cells containing a DNAi device and an RFP+ target plasmid (StrR) were transformed with a CRISPR targeting plasmid (CmR), plated onto LB containing all appropriate antibiotics in addition to 0.5% glucose, and grown for 12 hr at 37"C. Single colonies were used to inoculate 2YT (1 ml) containing all appropriate antibiotics and 0.5% glucose, and the resulting liquid cultures were grown in a shaking incubator for 3 hr at 37"C and 250 rpm until OD 6oo 0.25-0.75. Cultures were spun down at 15,000 rpm, washed once with fresh 2YT (1 ml), and back-diluted to OD600 0.01into 2YT (2 ml) containing appropriate antibiotics but without selection for the target plasmid (-spectinomycin). The diluted culture was then split into two 1 ml samples, and DNAi activity was either induced by adding 2 mM arabinose or repressed by adding 0.5% glucose. Cultures were then grown in a shaking incubator for 8 hr at 37*C and 250 rpm and periodically sampled. The fraction of host cells retaining the target plasmid (Target+) was calculated from the ratio of colony forming units obtained from plating onto both target-selective (+spectinomycin) and non-selective (-spectinomycin) LB plates containing all other appropriate antibiotics. In our hands, the plate-based assay was imprecise for measuring samples expected to contain a high fraction (>50%) of target-positive host cells (i.e., DNAi OFF or off-target CRISPR samples). A cytometry-based assay was employed for precise quantification of these samples (see Plasmid knockout assay ("cytometry-based," red fluorescent protein) below). 21 2.6.2 "Cytometry-based," red fluorescent protein Samples were prepared and induced identically to the plate-based knockout assay described above, except that for sampling, aliquots were back-diluted 1:1000 into 2YT containing 0.5% Gic and all appropriate antibiotics except spectinomycin, and then outgrown in a shaking incubator at 37C and 250 rpm for 8-12 hr. This served to arrest further target plasmid loss while allowing for the dilution of accumulated intracellular RFP in the target-negative cells present. Following outgrowth, aliquots were diluted into PBS containing 1 mg/ml kanamycin to arrest further growth and protein synthesis and stored at 4'C. Cells were analyzed using a BD Biosciences LSRFortessa. The fraction of cells containing the target plasmid was calculated as fraction of cells with red fluorescence values greater than a 1000 au cut-off. Data were analyzed using FlowJo (TreeStar Inc., Ashland, OR), and populations were gated based on forward and side scatter. For all samples, the gated population contained between 104 and 101 cells. 2.7 Plasmid knockout kinetic assay (PAM experiments). Samples were prepared as for the plate-based knockout assay, except the sample volumes were reduced to 500 pI and all cultures were grown in 96-well format in a shaking incubator at 37*C and 990 rpm. Cultures were sampled and subsequently outgrown as described for the cytometry-based knockout assay. For targets with strong PAM sequences (AAA, AAC, AAG, AAT, AGG, ATG, GAG, or TAG), experiments were carried out for 4.5 h with sampling every 10 m beginning at 2 h post-induction. For targets with slow (CAG, GGG, GTG, TAA, or TAG) or intermediate (ATA or TTG) PAM sequences, experiments were carried out for 8 h with sampling every 15 m starting at 3 h post-induction. Following outgrowth, aliquots were diluted into PBS containing 1 mg/mL kanamycin to arrest further growth and protein synthesis and stored at 4*C. Cells were analyzed using a BD Biosciences LSRFortessa. Data were analyzed using FlowJo (TreeStar Inc., Ashland, OR), and populations were gated based on forward and side scatter. For all samples, the gated population contained between 104 and 106 cells. 22 2.8 Survivor analysis assay (plasmid knockout experiment). Surviving StrR colonies taken from the +spectinomycin plates resulting from a plate-based knockout assay (see 2.6.1 above) were selected to inoculate 5-ml cultures of 2YT containing 0.5% glucose and appropriate antibiotics for target selection (+spectinomycin). Cultures were grown at 37*C with shaking at 250 rpm until OD600 0.3-0.8, and then prepared as chemically competent cells using a Mix & Go E. coli Transformation Kit (Zymogen) in accordance with the manufacturer's instructions. The resulting 500 pl stock of competent cells from each surviving clone was split into 5x100 pl aliquots in a 96-well format, and each aliquot was then transformed with either an additional pCR targeting plasmid complement (pCR-X, -Y, -Z, or -N, pUC19, CmR) or an actuator plasmid complement (pACT-02, p15A, KanR) in accordance with the kit manufacturer's instructions. The transformant cell mixtures were recovered in 1 ml 2YT without antibiotics for 1 hr at 37*C and 990 rpm and then back-diluted 1:200 into 1 ml fresh 2YT containing antibiotics necessary for pCR/pACT-02 selection (+chloramphenicol or +kanamycin). The resulting polyclonal mixtures of transformants were grown overnight at 37 0 C and 990 rpm, back-diluted 1:1000 (OD -0.01), and subjected to an additional 8 hr of DNAi inducing conditions (2YT with 2mM Ara, -spectinomycin), at which point the fraction of target' cells was measured in accordance with standard cytometry-based protocols (Methods). The particular loss-of-function mutation class was then assigned based upon which complementation plasmids did or did not restore a surviving clone's DNAi activity (90% target plasmid retention cutoff) using Table A.8. 2.9 Isolation of target plasmid DNA. Following a plasmid knockout experiment 500 pL of the resulting culture was collected and spun down at 15,000 rpm, and the supernatant was removed and discarded. Any resulting pellets were stored at -20*C until isolation could be performed in parallel. For plasmid knockout samples, plasmid DNA extraction was performed using a miniprep kit (Qiagen) and all samples were normalized to a final volume of 100 pL of Buffer EB (Qiagen) for subsequent qPCR analysis. Based on experiments in which comparable samples of target-negative cells were doped with known amounts of gel-purified target plasmid (pTAR(S)) and then subjected to analogous DNA extraction techniques, the efficiency of miniprep isolation was estimated at 35 23 18 %. 2.10 Isolation of target chromosomal DNA. A 250 il aliquot of the culture was collected and spun down at 15,000 rpm, and the supernatant was removed and discarded. Any resulting pellets were stored at -20C until isolation could be performed in parallel. Total genomic DNA was extracted using a Wizard Genomic DNA Purification Kit (Promega) in accordance with the manufacturer's protocol, and all samples were resuspended in a final volume of 100 p.L of TE buffer (Promega) for subsequent qPCR analysis. The efficiency of total genomic DNA isolation was calculated to be 14 3.0 % by generating qPCR standard curves from known quantities of target DNA and assuming one copy of the genome per cfu and 3 x 109 cfu per 250 il sample. Instead, we were forced to use alternative methods to quantify DNAi activity in which at least one of the three essential components, actuator, CRISPR array, or target DNA, were genetically absent from 2.11 Quantitative PCR. Quantitative PCR reactions (10 liL total volume) containing 1 pL of either sample or standard DNA template were prepared from SsoFast EvaGreen Supermix with Low ROX (Bio-Rad) in accordance with the manufacturer's specifications. The samples were amplified and measured using a Mastercycler RealPlex2 (Eppendorf) real-time PCR thermocycler. The thermocycling protocol (40 cycles) was as follows: (1) Initial denaturation - 2:00 at 95*C; (2) Melting - 0:03 at 95*C; (3) Annealing/synthesis: 0:30 at 65*C. Primers and amplicons are described in Supplementary Table 5, and all primers amplified their targets with 100 5% efficiency. For each amplicon, a series of 5-fold serial dilutions was prepared from a 1 ng/pi stock solution of gelpurified target DNA. Each of the eight dilutions spanning 5- to 5-8 ng/pL was then subjected to measurement by qPCR in triplicate, and the resulting Ct values were used to prepare a calibration curve of Ct vs. relative copy number (RCN), for which the most dilute solution (5-8 ng/pL) was arbitrarily designated as RCN = 1. When absolute quantification was required, a sample's RCN value was determined using the calibration curve and subsequently converted to an absolute copy number (ACNsample; given in copies/pl sample) value using the formula ACN = RCN x (6.02 x 24 1023 copies/mol) x (5-8 ng/pW sample)/M, where M is the molecular weight of the specific dsDNA amplicon (in ng/mol, Supplementary Table 5). The isolated DNA samples loaded into the qPCR reactions were more concentrated relative to the initial cultures from which they were obtained, and so ACNsample was then converted to ACNculture (given in copies/ml culture) according to the formula ACNculture = ACNsample x (1000 pil/ml)/C, where C is equal to the initial volume of culture sampled divided by the final volume of the isolated DNA sample. For miniprepped DNA (500l culture into 100 pI EB) C = 5, and for isolated genomic DNA (250pl culture into OOpIl TE) C = 2.5. 2.12 2.12.1 Measuring the impact on cell growth "Plate-based", cfu/mL Strains containing variants of the DNAi devices were co-transformed with both a target plasmid and a corresponding on-target CRISPR plasmid, plated onto LB containing antibiotics in addition to 0.5% glucose, and grown for 12 hr at 37"C. Single colonies were used to inoculate 2YT (1 ml) containing all appropriate antibiotics and 0.5% Glc, and the resulting liquid cultures were grown in a shaking incubator for 3 hr at 37 0 C and 250 rpm until OD6oo 0.25-0.75. Cultures were spun down at 15,000 rpm, washed once with fresh 2YT (1 ml), diluted to OD6oo 0.01 into 2YT (3 ml) containing kanamycin and/or chloramphenicol as appropriate, and then split into 3x1 ml samples in a 96-well format. Each sample was induced with Ara (0 - 10mM) and then grown in a shaking incubator for 8 hr at 37*C and 250 rpm. The viable cell titer of each sample was then measured by plating serial dilutions onto non-selective (-spectinomycin) LB plates containing all other appropriate antibiotics. 2.12.2 "OD 6oo-based", doubling time Samples are prepared as above in "Measuring the impact on cell growth ('plate-based', cfu/ml)", except that washed cultures are diluted to OD600 = 0.01 into non-selective (spectinomycin) 2YT (2.4 ml) containing choloramphenicol and then split into 12x200 gI samples in 96-well format in an optically-clear plate. Each sample is induced with Ara (0 - 10mM) and then grown in a BioTek Synergy H1 Hybrid Microplate Reader for 4 hr at 37*C and 560 rpm with concomitant measurement of each sample's absorbance (600nm) every 3 min. The exponential- 25 phase growth rate, p (in min-'), is then determined by least-squares fit of measured OD 6oo values corresponding to the interval between 60 and 90 min post-induction using the equation OD6oo = Aoe-9, where t is time in minutes, and Ao is the OD6oo at t = 0. The doubling time, t (in min), is then calculated as t = ln(2)/p. 2.12.3 "Cuvette-based", cell density Samples of BL21-Al strains harboring either pWUR397* (KanR), pWUR400* (StrR) or no plasmid were prepared as above in "Measuring the impact on cell growth ('plate-based', cfu/ml)", except that washed cultures are diluted to OD600 = 0.02 into 2YT (60 ml) containing the appropriate antibiotics for plasmid selection and then split into 2x30 ml samples in 250-ml baffled shake flask format. Each sample was then either induced with IPTG (1 mM) or left uninduced and then grown for 12 hr at 37*C and 250 rpm with concomitant measurement of each sample's absorbance (600nm) every 60 min. Cell density values reflect 1-cm path length measurements of OD60o absorbance using a Varian Cary Bio 50 UV-vis spectrometer. 2.13 Evolutionary stability experiments. The strain containing the 3xc DNAi device was transformed with the on-target Y+Z dual CRISPR plasmid (pCR-YZ, CmR) and a pSC101 target plasmid (pTAR(S), RFP+, StrR), plated onto LB containing chloramphenicol and spectinomycin in addition to 0.5% Glc, and grown for 12 hr at 370 C. A single colony was used to inoculate 2YT (1 ml) containing chloramphenicol, spectinomycin, and 0.5% GIc ("cell passage media"), and the resulting liquid culture was grown for 3 hr in a shaking incubator at 37*C and 250 rpm until OD600 = 0.25-0.75. These cells were washed with 2YT (1 ml), and then back-diluted to OD60 0 = 10-5 into fresh cell passage media (1 ml) to mark the start of the experiment ('day 1', t = 0). The culture was grown continuously in a shaking incubator at 37 0C and 250 rpm with back-dilution to OD 600 = 10-5 (75,000- to 100,000fold) into fresh cell passage media (1 ml) occurring every 12 2 hr. In parallel with every fourth such back-dilution (corresponding to a ~48-hr period) beginning with the first occurring at t = 0 measurements of DNAi device knockout efficiency and target plasmid stability were performed on a sample removed from the passaged culture in accordance with aforementioned protocols 26 (see both "Plasmid knockout assay" sections above). Continuous culture and periodic measurement of the sample were performed in this manner for a period of 90 days. 2.14 Cell death assays (DNAi-mediated killing). - The strain containing the 3xc DNAi device was transformed with either an on-target (pCR-G1 or G2, CmR) or an off-target CRISPR targeting plasmid (pCR-N, CmR), plated onto LB containing chloramphenicol in addition to 0.5% GIc, and grown for 12 hr at 37*C. Single colonies were used to inoculate 2YT (1 ml) containing chloramphenicol and 0.5% glucose, and the resulting liquid cultures were grown in a shaking incubator for 3 hr at 37*C and 250 rpm until OD6oo 0.25-0.75. Cultures were spun down at 15,000 rpm, washed once with fresh 2YT (1 ml), and back-diluted to OD60 0 0.01 into 2YT (2 ml) containing chloramphenicol. The diluted culture was then split into two 1 ml samples, and DNAi activity was either induced by adding 2 mM arabinose (DNAi ON) or repressed by adding 0.5% glucose (DNAi OFF). Cultures were then grown in a shaking incubator for 8 hr at 37*C and 250 rpm with periodic removal of samples for analysis. For each sample, the titer of viable cells (in cfu/ml) was then determined by 10-fold serial dilution and subsequent plating onto LB agar containing chloramphenicol. The fraction of viable cells was then calculated as the ratio of the cell titer in the DNAi ON state to that in the DNAi OFF state for a given CRISPR target. 2.15 Survivor analysis assay (cell death experiment). Viable colonies surviving suicide assay conditions (see above) were selected at random from the terminal quantification plates (t = 8 hr) and used to inoculate 2YT (500 pl) containing chloramphenicol and 0.5% GIc in 96-well format. Cultures were grown in a shaking incubator for 3 h at 37*C and 990 rpm until OD60 0 0.25-0.75. Cultures were spun down at 15,000 rpm, washed once with 2YT (500 ptl), and then back-diluted 1:500 into fresh 2YT (500 pl) containing chloramphicol and inducer (2 mM arabinose) in 96-well format. Induced cultures were grown in a shaking incubator for 8 h at 37*C and 990 rpm at which point they were diluted 10 6-fold into fresh 2YT containing chloramphenicol. Diluted cultures were immediately spotted (20 pl) onto LB agar containing chloramphenicol, and these plates were dried at room temperature for 1 hr 27 prior to overnight incubation at 37*C. Spots producing colonies or dense cell growth were designated as corresponding to a surviving clone that had lost DNAi activity (escape mutant) while spots with zero cell growth at this dilution were designated as corresponding to a surviving clone that had retained DNAi activity (transient escape). The escape mutants were subsequently screened for residual actuator activity through complementation with the cis-targeting plasmid pCisTAR(S)-X in the manner previously described (See "Survivor analysis assay (plasmid knockout experiment)" above). The remaining unclassified clones that had retained actuator activity were then subjected to colony PCR and sequencing in order to identify whether mutations in the plasmid-based CRISPR array or in the chromosomal proto-spacer/PAM had caused the loss of function. 2.16 Cell death assays (Integrase-mediated killing). The strain containing the lXB DNAi device and attint5-flanked KanR-Spacer X chromosomal loop-out cassette was transformed with either an on-target CRISPR plasmid (pCR-X, pUC19, CmR), an IntS actuator plasmid (plnt5act, p15A, AmpR) or both, plated onto LB containing appropriate antibiotic in addition to 0.5% Gic, and grown for 12 hr at 37*C. Single colonies were used to inoculate 2YT (1 ml) containing appropriate antibiotics and 0.5% glucose, and the resulting liquid cultures were grown in a shaking incubator for 3 hr at 37*C and 250 rpm until OD600 0.25-0.75. Cultures were spun down at 15,000 rpm, washed once with fresh 2YT (1 ml), and back-diluted to OD 600 0.01 into 2YT (2 ml) containing appropriate antibiotics for plasmid selection but without selection for the loop-out cassette(-kanamycin). The diluted culture was then split into two 1 ml samples, and DNAi activity was either induced by adding 2 mM arabinose (DNAi ON) or repressed by adding 0.5% glucose (DNAi OFF). Cultures were then grown in a shaking incubator for 8 hr at 37*C and 250 rpm with periodic removal of samples for analysis. For each sample, the titer of viable cells was then calculated as the ratio of the kanamycin-resistant cell titer in the DNAi ON state to that in the DNAi OFF state for a given strain. 28 3. Construction and optimization of a CRISPR DNA-interference device for Escherichia coli 3.1 Device Design Our initial conception of the CRISPR DNA-interference (DNAi) device (Figure 3.1) was one designed to convert a generic input of promoter activity into an output of CRISPR-mediated DNA interference. In essence, the device would be composed of two essential genetic components. The first component, the actuator (Figure A.1), would encode of all the catalytic elements necessary and sufficient for producing DNA interference in E. coli, specifically, cas3 and casABCDE. The second component, the CRISPR array (Figure A.2A), would serve as the device's targeting information. These arrays would encode one or more repeat-flanked spacer elements that, once transcribed and subsequently processed by casE, would become the crRNA guide strands that complex with actuator components and direct their catalytic activity to the appropriate DNA targets in a sequence-specific manner. Input larabinose] Target DNA DNAi Device P Cf Spa er acer caEProto-s CasE V RFP crRNA guides Repeat ori PAM' CRISPR colE1 Actuator PBA2~ Plasmid or E. Icos casABcDE cas3 - ... ..... genes Targe cohi chromosome Daed Figure 3.1: Schematic of the DNAi device. A schematic of the device (dashed box) is shown. The DNAi is a genetically encoded machine that converts a promoter input into an output of CRISPR-mediated DNA-interference activity and is composed of two essential components: a chromosomally-integrated actuator element, which encodes the minimal set of cas genes required for DNAi activity, and a reprogrammable targeting plasmid, which encodes the CRISPR array specifying the DNA target(s). Actuator activation with arabinose via PBAD input promoter results in the expression of Cas3, an ssDNA nuclease/helicase, and the CasABCDE complex. The CRISPR array is transcribed from a constitutive promoter (PJ23117). The target plasmid, which possesses a valid PAM and proto-spacer combination is recognized by the DNAi machinery and degraded. 29 An input promoter would serve as the device's master ON/OFF switch, and we elected to place only the actuator components under inducible control, while leaving transcription of the CRISPR targeting components under the control of constitutive a70 promoters. An alternative implementation, such as a dual-induction system in which each of these two components was under the control of an independent inducible promoter, might have demonstrated tighter control over the system's expression, but at the same time would also have made for a more complicated experimental setup. This was undesirable for rapid and reliable prototyping. Furthermore, expression of the cas components rather than of the CRISPR array was deliberately chosen as the point of control, because high levels of cas expression, particularly of cas3, were observed to be significantly toxic to the host (Figure 3.2). Having the device's default OFF state correlate with low levels of cas expression would therefore generate less selective pressure against maintenance of the device's components. Fiure 3.2: Effect of cas over-expression on cell 10 growth. Data on the growth of E. coli BL21-Al cultures is shown for strains over-expressing different cas components from modified pWUR plasmids in which the native P17 promoter was replaced with a strong 10 IPTG-inducible promoter. CD 0 / II 10 a A ff 10-2 0 2 4 6 8 10 12 Time Post-Activation (hr) OD600 measurements of cultures over time is shown for strains harboring pWUR397* (cas3 over-expression, green diamonds), pWUR400* (casABCDE over-expression, blue circles), no plasmid (orange squares) in both the induced (1 mM IPTG, dashed line) and uninduced (0 mM IPTG, solid line) states. All data were obtained by cuvettebased cell growth assay (Methods). Plasmid maps for pWUR397* and pWUR400* are provided in Supplementary Figure A.6 A plasmid-based target was designed to test the device's ability to remove stablymaintained DNA sequences from the host, because in the absence of antibiotic selection, such a target can be deleted from the host genotype without significantly disrupting cell growth or viability. Our prototype target plasmid design (pTAR(S), Figure A.2B) utilized a low-copy pSC101 origin of replication (10-12 copies/genome) in order to make the experimental system more sensitive to the device's leakage activity in the OFF state. Also encoded on the target plasmid 30 were constitutively-expressed antibiotic resistance and RFP cassettes, which in combination provided a dual-phenotype reporter system for quantifying the presence or absence of the target plasmid within the host cell population either by plating assay or by cytometry, respectively (Figure 3.1, A.2B). Additionally, we initially opted for all-plasmid DNAi device. This strategy hopefully would not only facilitate rapid and modular construction and reprogramming of device prototypes, but also allow the device's end-users to more easily integrate DNAi technology into their own engineered host strains. B A . 100 .m 1.30 pSC101 M13 pAmpTAR(S) C C AX X <A lROR or < M R+pCR QOR j 10-, 10-3 AmpR blo(X*) b/aAX IN2 X N2 X Actuator pWUR397 + pWUR400 34 of Figure 3.3: Genetic instability of the pWUR cas over-expression system (A) Map for the pAmpTAR(S) pair of versions different encode but resistiance ampicillin confer versions Both pSC101-based RFP' target plasmids. blaAX while PAM, 5'-ATG an to X coupled proto-spacer encodes bla the AmpR (bla) allele (bottom). Wild-type contains a series of synonymous mutations that have removed proto-spacer X without altering the PAM or the (B) resistance phenotype. Sequences for spacer X and the recoded AX segment of bla are provided in Table A.1. to subsequent host pWUR397/400 a within plasmid target pAmpTAR(S) a of Data reflecting the stability combination in X) or (N2 spacers different for shown is (pCR) plasmid targeting a CRISPR transformation with with different proto-spacer sequences (X+ or AX). The fraction of host cells that were positive for transformation with pCR (CmR) and yet retained the target plasmid (Target', Amp') is shown for when transformation restored it the full complement of components required for target-directed DNAi activity (pCR-X/bla(X*)) and for when and did not (pCR-N2/bla(X'), pCR-N2/blaAX, and pCR-X/blaAX). The E coli MG1655-derived parent is T7RNAPby obtained were Data system. this for levels leakage minimum the reflects pWUR397/400 so expression from independent three of average the represent and (Methods) assay stability plate-based electroporation experiments performed on different days. Error bars show the standard deviation. Brouns et al had previously constructed an inducible, T7 RNAP-controlled, three-plasmid cas/CRISPR over-expression system ('pWUR' plasmids, Figure A.7) that efficiently blocked both 31 phage infection and plasmid transformation3 4 4 . We had intended to use this design as a starting point for our own device, but unfortunately our preliminary experiments demonstrated that these components were intrinsically too leaky to construct a genetically stable DNAi device in Ktype E. coli. We transformed an E. coli MG1655-derived host that was genetically null for T7 RNAP with the two actuator plasmids, pWUR397 and pWUR400, along with one of two pSC101based target plasmid variants (Figure 3.3A). Both target plasmids conferred ampicillin resistance, but pAmpTAR(S)-X encodes the wild-type bla sequence, which contains a valid PAM/proto-spacer combination ('X'), while pAmpTAR(S)-AX encodes a mutant version of bla with a series of synonymous mutations that remove the proto-spacer X sequence. In this state, possessing both target and actuator but lacking an appropriate CRISPR array to target the cas protein activity, these strains are negative for DNAi activity 34 6 4 . We then proceeded to challenge both strains by transforming them with an additional CmR-conferring CRISPR plasmid encoding the corresponding spacer X (pCR-X). If actuator leakage was sufficiently low in this state so as to avoid DNAi-mediated target loss, then we would expect all CmR pCR-X* transformants to retain the target plasmid and its associated AmpR phenotype as well, regardless of whether CRISPR X properly targeted the corresponding plasmid's bla gene. This was not observed, however, and based on plating experiments, only 0.4% of pAmpTAR(S)-X+ cells that were successfully transformed with pCR-X (CmR phenotype) were able to retain the target, while >97% of transformants from the pAmpTAR(S)-AX strain retained the AmpR phenotype (Figure 3.3B, red bars). In addition, this difference could not be attributed to DNAi-independent variability, because when transformed with a negative control CRISPR plasmid that encodes spacers targeting neither pAmpTAR(S) plasmid nor the host genome (pCR-N 2, CmR), ~100% Of CmR transformants from both strains retain the AmpR phenotype as well (Figure 3.3B, pink bars). Thus, the leakage from the pWUR actutator plasmids' T7 promoters, even in the total absence of their cognate phage polymerase, was sufficient to destabilize the target plasmid, and so we deemed it necessary to design an entirely new cas/CRISPR system with tighter control in the OFF state. 32 Our revised actuator implementation encompassed three major alterations to the cas/CRISPR system of Brouns et al. First, both because the pWUR T7 promoters were intrinsically leaky and because T7 RNAP activity is generally toxic to an E. coli host, we discarded T7RNAP as an intermediary in the actuator expression cascade. Second, even though both the native E. coli CRISPR machinery and all previously developed cas/CRISPR over-expression systems had divided the cas3 and casABCDE actuator components into two separate operons 34 ,66,67 , we elected to simplify expression by merging the two into one contiguous transcriptional unit encoded on a single plasmid (Figure A.1). In doing so, we both reduced the probability of homology-dependent recombination between re-used promoter elements and removed the need for an additional plasmid and antibiotic selection. Third, we selected the arabinose-inducible PBAD promoter from the wild-type E. coli araBAD operon as the input, because it demonstrates an exceptionally tight OFF state and a large dynamic range (Figure A.8). With actuator expression coupled directly to PBAD activity, the DNAi device could be switched into the ON state through the addition of arabinose, and into the OFF state through the addition of glucose to the growth media. This systematic overhaul provided the impetus to make a number of other smaller optimizations as well. For instance, although RSF and p15A origins of replication are generally regarded as compatible, we observed some inconsistency in device performance stemming from what was later determined to be interference between pWUR397 and other p15A plasmids (data not shown). More consistent results were obtained when we abandoned an RSF plasmid backbone in favor of a colEl backbone (pBR322 variant; -50-100 copies per genome6 7) for actuator expression (Figure A.1). In addition, over-expression of Lacl from individual cassettes on each component plasmid was causing growth defects, and since our revised device's input promoter was no longer designed to be IPTG-responsive, these cassettes were removed. Finally, the pWUR47x-based CRISPR targeting plasmids contained both a strong RBS and the native CRISPR leader sequence immediately upstream of the array. The RBS element was toxic, presumably due to over-expression of the short cryptic peptide ORF that was found downstream, and the leader sequence itself was determined to be non-essential for DNAi activity. Both were therefore removed from subsequent constructs. These CRISPR plasmid modifications (Figure A.2) together decreased the doubling time of a MG1655 F' host strain containing the 33 PBAD- inducible DNAi machinery from ~30 min to 25 min, which was comparable to that of the DNAiparent (25 min) 3.2 Initial characterization of unstable DNAi devices Unfortunately, despite the noted improvements apparent in our first-generation device's toxicity profile, our extensive cas/CRISPR restructuring was insufficient to reduce DNAi leakage levels to the point where the actuator, CRISPR, and target plasmids could all be maintained stably within a single host. As a result, while it was possible to transform and select for the requisite triple-transformants on LB plates, these hosts were not amenable to liquid culture under full antibiotic selection (data not shown). These difficulties prohibited us from performing a proper target plasmid knockout experiment, in which DNAi activity is deliberately induced in the absence of antibiotic selection for the target plasmid in order to observe its disappearance from the host over time. Instead, we were forced to use alternative methods to quantify DNAi activity in which at least one of the three essential components, actuator, CRISPR array, or target DNA, were genetically absent from cells up until the very point of challenge. Previous work had established methods in which a strain's DNAi activity was measured either by its ability to block infection with a virulent phage that encoded a valid PAM/proto-spacer target or by its ability to prevent transformation of naked plasmid DNA encoding a missing DNAi component 34,44,5O,51,63. While these approaches were both clearly effective, we decided that rigorous phage DNA replication and competing phage metabolism would create too high of a bar for target DNA elimination and therefore would underestimate the leakiness of our system. Direct transformation of plasmid DNA, however, was insufficiently high-throughput for rapid and precise testing. Ultimately, we opted for a phagemid transduction blocking assay, which was hybrid of these two approaches (Figure 3.4). First, we created a pSC101-based target plasmid (pPAM-ATG, StrR) which encoded an M13 viral origin of replication (i.e. a phagemid). The viral origin allowed the target plasmid DNA, which by itself was non-infectious and not readily transmissible between cells, to be packaged into M13 virus-like particles that were capable of transducing FI E. co/i hosts (Methods). A pre-prepared stock of these pPAM-ATG virions was then used to challenge two host strains 34 whose DNAi machinery had been pre-induced (2 mM arabinose) or pre-repressed (+1% glucose). One strain encoded a valid, on-target CRISPR spacer (X) capable of effecting DNAi against the incoming target DNA, while the other strain encoded invalid, off-target CRISPR spacers (N 2). The strain's effective DNAi activity was then quantified as the relative transduction efficiency (RTE), which was defined the ratio of the number transformants in the on-target case divided by that of the off-target after adjustments for DNAi-independent differences in transduction (Methods). Virion Target Phagemid Viral Packaging pPAM-ATG r pSC101 i M13Aori4 DNAP Infection h-..osX..M13 ori MG1655 F Valid PAM (Receiver) . X Transduction (StrR) Invalid PAM Transduction Blocked (Strs) Figure 3.4: Schematic of M13-based phagemid transduction blocking assay. Stock solutions of M13 transducing virions encapsulating the target phagemid (pPAM-ATG) are prepared and then used to infect host receiver cells (MG1655 F*) containing both a DNAi actuator and either an on-target (pCR-X, CmR) or an off-target (pCR-N2, CmR) CRISPR targeting plasmid, and whose DNAi activity has be pre-induced (2 mM arabinose) or pre-repressed (+1% glucose). The titer of target-positive transductants (in cfu/gl) is then measured by plating assay and the sample's relative transduction efficiency (RTE) is calculated as the ratio between the titer of transductants in the on-target case to that in the off-target case. See Methods 2.5 for greater detail. Plasmid maps for the associated constructs are available in Figures A.1, A.2, and A.9, respectively. When our first-generation DNAi device utilizing a high-copy colEl-borne PBAD-controlled actuator was tested in this manner (Figure 3.5, blue bars), the ON state (+2 mM arabinose) demonstrated robust DNAi-mediated transduction-blocking activity, which reduced the strain's RTE to less than 2.6x10-5 . Nevertheless, as suspected from our experiences with direct target plasmid transformation, the DNAi OFF state (+1% glucose) was still unusably leaky, and the 4 strain's RTE was only ~20-fold higher (RTE 5.6x10 ) than the ON state. For our second-generation device, we changed the actuator plasmid's origin of replication from colEl to p15A (20-30 copies/genome), thereby lowering the actuator copy number approximately 3- to 5-fold. This modification also required a compensatory change of the CRISPR plasmid's origin to avoid compatibility issues. We wished to accomplish this exchange while maintaining a roughly equivalent level of CRISPR array transcription, and so while we elected to raise the CRISPR 35 component's copy number ~20-fold through utilization of a high-copy pUC19-based colEl origin (>500 copies/genome), we also simultaneously swapped out the array's strong constitutive promoter PJ23119 for a weaker mutant variant PJ23117, which demonstrates roughly 15- to 20-fold lower activity. 100. r. 0 S- - - - - - - - - - - - - - - - 101. 0 .0 10-2, M4 in 10-3 Z 10-4 I; 10-S DNAi Spacer Actuator OFF ON OFF ON OFF ON X pACT-01 X pACT-02 (colEl) (p1SA) X pACT-A (1xA gen.) Figure 3.5: Comparison of phagemid transduction efficiencies for DNAi devices with different actuator configurations. Data for the DNAimediated blocking of transduction with a target phagemid virion (pPAM-ATG) are shown for different spacers in combination with different actuators (plasmid-borne p15A and BAC ori and 1x genomic). The relative transduction efficiency (RTE), which reflects the ratio of the number of phagemid transformants (Str) generated upon infection of an on-target strain (X) to that generated upon infection of an off target strain (N2, Methods), is shown for all strains in the OFF (repressed by 1.0% glucose) and ON (2mM arabinose) states. The dashed line corresponds to RTE = 1. All data were obtained by plate-based phagemid-blocking assay (Methods) and represent the average of three independent experiments performed on different days. Error bars reflect the standard deviation. This second-generation device was subjected to a similar set of target phagemid blocking experiments (Figure 3.5, green bars). Interestingly, despite the copy number-related drop in actuator expression in the ON state (+2mM arabinose), the strain's RTE (3.5x10-4 ) was a mere 1.4-fold higher than that of the strain harboring the colEl-based actuator. More importantly, however, the stability of the corresponding OFF state was improved 500-fold (RTE = 0.28x10'). These non-linear relationships between phagemid blocking and copy number suggested that the first-generation actuator was already operating in or near the saturated (i.e. zeroth-order) regime for DNAi activity even in the OFF state. This notable improvement in the DNAi device's OFF state represented substantial progress towards our goal of a leak-free system, and we wished to determine whether further decreases in actuator copy number might achieve an even tighter OFF state. Unfortunately, because our target plasmid already utilized a pSC101 origin, and a BAC-based plasmid would be incompatible with the F' episome required for M13 phagemid virion infection, we were left with 36 very few choices among the commonly-utilized, well-characterized E. coli expression vectors for one with a copy number lower than that of p15A-based plasmids. We therefore decided at this juncture to abandon temporarily our all-plasmid approach to device construction and instead to attempt to integrate the actuator components directly into the host chromosome. This would ensure both a lower, more precise distribution of copy numbers and greater genetic stability than could be achieved with plasmid-based expression. After a series of manipulations to the MG1655 F' host chromosome and modifications to the actuator plasmid (pACT-A, Figure A.1), the complete actuator sequence was integrated into the host chromosome via FLP-mediated loop-in mechanism (Figure A.4). During the design process, we deliberately decided that this integration would result in a net replacement of the native cas/CRISPR locus (Table A.1) for two reasons. First, even though the native E. coli DNAi machinery in a wild-type genetic background remains completely silent under all experimental conditions tested thus far, its removal was desirable for purposes of experimental control and scientific rigor. Second, previous work had already established that the actuator's cas components could be inducibly over-expressed from this location without significant issue. With this chromosomally-actuated 1xA (where the subscript 'A' denotes the actuator variant) DNAi strain in hand, we repeated the phagemid transduction-blocking experiment once more (Figure 3.5, pink bars). While the strain's RTE in the DNAi ON state (1.1x10-2) was over 300fold less efficieny than when the p15A actuator was used, the corresponding DNAi OFF state was effectively 100% silent within experimental error (RTE >1). 3.3 Characterization of stable DNAi devices harboring chromosomal actuators While this phage blocking result reassured us that the DNAi OFF state of this chromosomal actuator strain was indeed stable, we took the opportunity to make additional practical modifications to the host's genetic background before proceeding any further in our characterization. In addition to the existing Acas/CRISPR knockout that served as the means of integrating our own actuator sequence, two additional marker-free deletions, AaraC-araBAD and AP/ac:Iac/ were introduced via standard XRED-based mechanism (Methods, Table A.2). The araC- araBAD locus encoding the native arabinose pathway was deleted to prevent the host from 37 metabolizing the input promoter's inducer molecule over the course of an experiment, and the APlac,:IacI deletion was introduced to allow for more precise control over Lac dosage should an IPTG-inducible promoter be re-introduced into our device design at a later point in time. Equally importantly, however, these deletions effectively created two more potential integrations sites for additional chromosomal copies of the actuator sequence (Table A.2). Following these modifications to the host's genetic background, we proceeded to perform a proper plasmid knockout experiment using the iXA chromosomal actuator, a CRISPR plasmid (pCR, pUC19 ori, CmR) encoding either the X (on-target) or the N 2 (off-target) spacers, and the pTAR(S) (pSC101 ori, StrR, RFP*) DNA target (Figure 3.6). When properly targeted, induction of DNAi activity removed the target plasmid from >99.96% of cells, yet in the DNAi OFF state the target was retained at what was effectively 100% given the precision limits of our platebased assay (Methods). As expected, no appreciable loss of the target plasmid was observed in the off-target case, and so we concluded that the observed on-target plasmid loss was indeed DNAi-dependent. Both of our conditions for the dynamic range of DNAi activity had been met, and so in this particular regard our device was a success. Having determined that lowering the actuator's copy number was a successful strategy for achieving our DNAi device performance goals, we temporarily back-tracked to construct and test a BAC-encoded version of the actuator in the hopes that it could be applied to realize our initial intentions of an all-plasmid DNAi device. Similar to the aforementioned experiments with the chromosomal actuator, DNAi strains were constructed that contained either a BAC- or pl5A- born actuator, an on-target (X) or off-target (N 2) pCR-borne CRISPR array, and a pSC101-based target plasmid (pTAR(S), RFP*' StrR). These strains were subjected to standard plasmid knockout conditions (Methods), and the fraction of host cells retaining the target plasmid was measured (Figure 3.6). While the on-target strain harboring the BAC actuator variant did indeed demonstrate improved performance over the analogous p15A-based strain, the BAC-based device, which removed the target from 99.6% of cells in the DNAi ON state and retained the target in only 81% of cells in the DNAi OFF state, was still unable to meet either criteria for a successful DNAi device. In addition, unlike actuator sequences carried on the genome, which demonstrate lower toxicity, both the pl5A- and BAC-based actuators significantly reduced the 38 growth of the host (data not shown). We therefore elected to abandon plasmid-based actuators once and for all. Although our chromosomally-integrated version of the DNAi device met our criteria for successful target plasmid knockout, it too still possessed a few undesirable properties that merited refinement. First, because FRT-FRT recombination perfectly conserves the FRT site sequence, the FLP-based method used to insert the actuator sequence could have inadvertently allowed multiple, iterative integrations to occur at the single targeted locus. Thus, the precise B 0 X 100 _t ) CRISPR - A 2 Target Plasmid ~1N 0 1 pSC1O1 DNAi Spacer Actuator OFF ON OFF N2 ON OFF ON OFF ON N2 X pACT-03 (BAC) pACT-02 (p1SA) X OFF ON OFF ON N2 1XA (genome) X OFF ON OFF ON X 2 1x8 (genome) and Figure 3.6: Plasmid knockout efficiencies when the DNAi actuator is carried on different plasmid backbones a non-coding in present is X genomic configurations. (A) The designs for target spacer sequences are shown. correspond to region of the pSC101 target plasmid (pTAR(S)) with an ATG PAM, and neither of the dual N2 spacers provided in are spacers these for Sequences genome. a valid proto-spacer target in either the plasmid or the host combination in spacers different for shown are plasmid Supplementary Table 1 (B). Data for the knockout of target cells that with different actuators (genomic 1XA and 1XB, and plasmid-borne p15A and BAC ori). The fraction of and ON glucose) 0.5% by (repressed OFF the in shown is (Target') retain the pSC101 origin pTAR(S) target plasmid the and assay cytometry the using obtained were data ON 1x/N the (2mM arabinose) states. The OFF data and three of average the represent data . All (Methods) assay plate-based the remainder were obtained by independent experiments performed on different days and the error bars are the standard deviation. number of chromosomal copies present was, at least initially, uncertain. Second, if multiple copies were indeed present in the chromosome, then these repeated sequences were present at the target locus in the form of a tandem array of head-to-tail repeats. The MG1655-based host strain, designed to mimic an industrially relevant fermentation strain, was recA', and so such a construction would be inherently prone to actuator elimination through homology-based recombination68 . If all of these were required for the full level of DNAi activity observed in the ON state, this could destabilize or otherwise break the device. Third, as constructed, there was 39 no mechanism to cure the Kan' marker used for selection, and since chromosomal integrants in E. coli are typically stable in the absence of selection, it was suboptimal to waste this rather useful genetic part in such a manner. We therefore redesigned our chromosomal insertion strategy to remedy these problems (Figure A.3, A.6). recombinase unidirectional Time Post-Activation (hr) Utilizing a phage-derived (Int5) and 0 its 6 12 18 24 corresponding attB/attP sites in lieu of FLP and its reversible FRT/FRT recombination reaction a101 ensured that the actuator sequence could I2 integrate precisely once at each chromosomal target locus. C 0 In addition, the integrase sites 10- io- were strategically repositioned within both the 10-4 revised actuator plasmid (pACT-B, Figure A.1) and the host's chromosomal target locus in 10. order to allow for the KanR cassette to be Figure 3.7: Comparison of plasmid knockout kinetics in early genomic actuator prototypes. A time course is FLP-mediated shown for the knockout of pSc101-based target plasmid extracted via subsequent FRT/FRT recombination. This ability to reclaim pTAR(S) from DNAi strains programmed with spacer X and harboring either a1xA (blue triangles) or a1xB (green squares) chromosomal actuator. Measurements reflect the selection marker ensured that if additional the fraction of cells that retain the pTAR(S) target plasmid (Target') in the DNAi ON state (2mM arabinose) copies of the actuator were required, they and were performed via plate-based assay (Methods). data are the average of three independent could be integrated elsewhere in the host All measurements performed on different days and error bars show the standard deviation. chromosome, albeit one at a time. Once we had constructed the equivalent marker-free, definitively single-copy (1XB) version of the chromosomal actuator, we performed both time-course and end-point measurements to assess the plasmid knockout performance of the corresponding 1XB DNAi device and compared it to that of our original 1XA DNAi device (Methods). As hoped, when both devices were programmed with spacer X to effect the knockout of pTAR(S), the overall plasmid knockout efficiency (Figure 3.6) and the knockout kinetics (Figure 3.7) were virtually identical for both versions of the device. Thus, in addition to the engineering success that these results reflect, the matching kinetics also retroactively confirmed that the original IxAgenomic actuator strain 40 had indeed harbored just a single copy of the actuator sequence. Nevertheless, the lXB version of the chromosomal actuator, with its genomic antibiotic resistance marker removed, was superior to the original 1XA version, and so the latter was abandoned in favor of the former. 3.4 Parameterization and Optimization of DNAi Device Kinetics 3.4.1 Introduction At the simplest level our DNAi device was designed to work as a molecular machine that converts a simple promoter input signal into a quantifiable output of DNAi activity. Nevertheless, given the layered and complex interplay of DNAi components and endogenous host components that is required for proper device function, the true input-output relationship is not that simple, and many design specifications other than input promoter activity can alter the device's performance characteristics. It would therefore be useful to understand the influence that these other variables have on this input-output relationship so that the device can be tuned to meet the unique demands of the largest number of possible biotechnology applications. Furthermore, when utilized for purposes of plasmid knockout, the DNAi device's output can be quantified in terms of either its efficiency, i.e. the fraction of host cells retaining the target following DNAi induction, or its kinetics, i.e. the rate at which the plasmid is lost from the pool of host cells. In order to have full control over the device in an arbitrary context, it would be necessary to understand the relationship each design specification has with both of these output parameters. With respect to their influence on the DNAi device's plasmid knockout rate, we selected the following five design specifications for parameterization and/or optimization: crRNA expression level, spacer sequence, araC dosage, PAM selection, and actuator copy number. For each kinetic parameter examined, a strain containing the lxB genomic actuator and the standard pTAR(S) target served as the base case unless otherwise stated. Host cells were subjected to DNAi-inducing conditions (+2 mM arabinose) over the course of an 8-h plasmid knockout experiment, and the maximal rate of target plasmid loss was determined by measuring the fraction of target-positive cells at various time points using a plate-based assay (Methods). 41 3.4.2 crRNA expression level The first parameter that we examined was the dose-dependence of the device's DNAi activity on the level of crRNA expression. As per our initial design, the weak PJ23117 promoter present on the pCR plasmid (pUC19 ori, CmR) was responsible for providing constitutive expression of the essential crRNAs. While certainly functional, it was unclear at this stage whether this particular expression level, which had been chosen somewhat arbitrarily, was subsaturating or super-saturating with respect to DNAi activity. We therefore constructed a CRISPR plasmid in which expression of spacer X Time Post-Activation (hr) 0 was instead placed under control of an aTc-inducible Ptet promoter (pCR-Xtet, 2 8 6 4 100 4 p15A ori, CmR) and then measured the rate of DNAi-dependent target plasmid 4) 1010-1 - loss under both Pterinduced (+100 ng/ml aTc) and Ptet leakage (0 ng/ml aTc) 0 U L. U- % 10- -- -- - conditions (Figure 3.8). When compared to our base case in which spacer X was expressed from the standard pCR-X construct (blue triangles), the rate of target plasmid loss was significantly faster in the Ptet-induced (black circles, dashed line) case while significantly slower in the uninduced case (black corresponding circles, solid suggested line). that These pCR-X was findings in fact delivering an intermediate dose of crRNA relative to the levels of the DNAi cas machinery provided under DNAi ON conditions. Additional observations 10-5. 10-6.- Figure 3.8: Effects of crRNA expression level on target plasmid knockout kinetics. A time course is shown for the knockout of pSC101-based target plasmid pTAR(S) from DNAi strains harboring a 1XB chromosomal actuator and expressing different amounts of the crRNA corresponding to spacer X. The X spacer was expressed either constitutively from a medium- (pCR-Xpi5a, p15a ori, green squares) or high-copy (pCR-X, pUC19, blue triangles) plasmid or inducibly from a Ptet promoter (pCRtet-X, p15A, black circles). In cases of Pter mediated expression, host strains were examined in eitherthe presence (100 ng/ml aTc, dotted line) or the absence (0 ng/ml aTc, solid line) of inducer. Measurements reflect the fraction of cells that retain the pTAR(S) target plasmid (Target') in the DNAi ON state (2mM arabinose) and were performed via plate-based assay (Methods). All data are the average of three independent measurements performed on different days and error bars show the standard deviation. 42 suggested that the PJ23117 promoter is exceptionally weak within the context of the pCR plasmid, and it is instead the construct's high copy number (>500 copies/cell) that allows it to provide a reasonable amount of crRNA. When the DNAi kinetics of a lower-copy p15A version of pCR-X were measured (Figure 3.8, green squares), the performance was lower than even that corresponding to leakage levels of Ptet. This facet of the DNAi device's design could have significant consequences if an unmodified version is embedded within an engineered host that uses strong G70 underperform if promoters as part of its other programming, because DNAi may fail or PJ23117 has trouble competing for the host RNAP pool. Plans for a comprehensive sweep of crRNA dosage in order to find the point at which DNAi activity from the 1xB device becomes saturated were abandoned in favor of other efforts. Nevertheless, the capacity to tune DNAi activity in either direction through manipulation of crRNA dosage is a beneficial feature that may allow the device to interface with a greater number of biotechnology platforms. 3.4.3 Spacer sequence The power of CRISPR DNAi interference is largely derived from its ability to target specific pieces of DNA for elimination based solely on short stretches of their sequence. These sequences therefore serve as a form of molecular fingerprint for those specific targeted molecules. For applications in which native rather than synthetic DNA is targeted, changing DNAi targets might necessitate using a different fingerprint for identification, and in terms of CRISPR biochemistry, this would translate into programming the DNAi with a different spacer sequence. Unfortunately, previous work with the E. coli Type-IE cas/CRISPR system had failed to address the question of whether the CRISPR spacer sequence can affect the kinetics of DNAi- mediated target degradation, and so we performed a set of experiments to investigate this variable as a possible kinetic tuning parameter. For these experiments, we compared the performance characteristics of spacer X to two additional spacers, Y and Z (Table A.1). Our experiments (Figure 3.9) showed that DNAi activity utilizing CRISPRs X (blue triangles) and Z (black circles) were comparably fast, yet the activity corresponding to spacer Y (green squares) was 43 significantly slower. This difference in Time Post-Activation (hr) kinetics could not simply be attributed to 0 2 4 6 8 differences in the designated target's PAM, 100,. as both the faster X and the slower Y protospacers possessed an 5'-ATG PAM. Thus, 102 - spacer sequence can play a direct role in 10-1 A the kinetics of the associated DNAi activity. explanation for the considerably slower 0 - Experiments to determine the mechanistic U- 10-3. 10. rate of spacer Y-mediated plasmid loss were beyond the scope of this work. A list of possible explanations for this phenomenon includes, but is not limited to, different crRNA lifetimes, different rates of CasE-mediated pre-crRNA processing, differences in affinity for the Cascade complex, altered RNA-DNA base-pairing thermodynamics during target recognition, and sequence-dependent differences in the 10-6 j Fiaure 3.9: Effect of spacer sequence on target plasmid knockout kinetics. A time course is shown for the knockout of pSC101-based target plasmid pTAR(S) from DNAi strains harboring a 1xB chromosomal actuator and programmed with different CRISPR spacer sequences. Spacer X (5'-ATG PAM, blue triangles) targets a non-coding region within the target, while spacers Y (5'-ATG PAM, green squares) and Z (5'-AAG PAM, black circles) target regions within the target's StrR coding sequence. The fraction of cells that retain the pTAR(S) target plasmid (Target ) is shown in the DNAi ON state (2mM arabinose). Measurements were performed via plate-based assay (Methods). All data reflect the average of three independent measurements performed on different days and error bars show the standard deviation. rate of Cas3-mediated cutting of the target. Curious as to how one fast and one slow spacer might interact to affect DNAi performance, we constructed and subsequently tested a fourth pCR variant, which encoded the dual Y+Z spacer combination. The rate of plasmid loss with dual spacers was much closer to that of the case with the single, faster spacer Z, (data not shown) strongly implying that competition between the two spacers any the rate-limiting step of the DNAi biochemical pathway was minimal. From these aggregate observations, we concluded that spacer sequence could indeed significantly influence the rate of plasmid loss. Furthermore, the significantly slower kinetics associated with spacer Y provided us with a tool to make more precise time-dependent measurements as we proceeded with additional experiments. 44 3.4.4 AraC expression levels The transactivating protein AraC is essential for sensing arabinose and activating our device's PBAD input promoter, and so the third DNAi parameter we optimized for kinetic performance was araC dosage. Somewhat serendipitously, while testing our DNAi device base case (1XB actuator), pTAR(S)) with spacer Y (pCR-Y) within the context of an araC/araBAD' genetic background (Figure 3.10, green squares) we noticed that the kinetics of target knockout were significantly faster compared to those observed when testing our standard triple knockout host strain (blue triangles), which contained a AaraC-araBAD deletion. This was somewhat paradoxical, because the araBAD' strain was capable of metabolizing the arabinose used to activate the DNAi input promoter, and so we expected that this would reduce the effective inducer concentration, lower the device's maximal DNAi activity, and thus ultimately slow the kinetics of plasmid knockout. Indeed, we were able to confirm that arabinose metabolism was responsible for the lower knockout efficiency observed in araBAD' strain following the standard 8-h induction period (target' fraction 1.4x10- 3), because increasing the initial inducer concentration above 2 mM or re-inducing cells mid-experiment (at t = 4 h) both increased the overall target knockout efficiency after 8 h (data not shown). Nevertheless, the discrepancy in the strains' kinetics remained unexplained. We hypothesized that differences in araC expression were in fact responsible for our unusual observations. In the context of a wild-type araC+ E. coli background, expression of araC is controlled by the Pc promoter, which is auto-regulated to provide a dynamic level of transactivator that increases to meet the host's increased demands upon arabinose induction. In contrast, in the context of our AaraC-araBAD DNAi strain, this auto-regulatory Pc-araC circuit has been removed and has been replaced with a single copy of a constitutively-expressed araC cassette (PJ2 3 117-araC), which was added to the chromosome as part of the pACT-B plasmid. Given how weak we had determined promoter PJ23117 to be, however, it was reasonable to suspect that this construct was unable to provide the host with sufficient AraC transactivator for optimal PBAD function, even though the cassette provided the ORF with a strong RBS (BBa_B0034, Table A.7). 45 To test our hypothesis, we constructed an araC complementation plasmid that encoded the same PJ23117-araC cassette (pAraC-117, p15A, KanR) and that, based on its copy number, was predicted to boost AraC levels within our DNAi host strains ~20-30-fold. As predicted, upon complementation the knockout kinetics of the DNAi base case strain improved considerably (Figure 3.10, black circles), exceeding even those observed in the alternative araC/araBAD+ host background (Figure 3.10, green squares) this While had improvement Time Post-Activation (hr) validated our initial hypothesis, it was still 0 2 4 8 6 uncertain whether this araC boost was 1004 saturating the host's demands for AraC protein, and so we built and tested a second, S10-1 U c 10- analogous araC complementation plasmid - with a constitutive promoter variant (Pi2310s, Table A.6) that was ~4-fold stronger (pAraC105, p15A, KanR). knockout kinetics The target plasmid associated .104 with this 10-5- .A .Ix- stronger complementation plasmid (Figure diamonds) red those matched associated with the weaker araC construct (black circles), thereby indicating that in both cases the AraC levels were indeed saturating, at least with respect to their ability to affect DNAi activity. Nevertheless, the need for an additional accessory plasmid to achieve optimal DNAi device function was undesirable from a design standpoint. We therefore chose chromosomal to actuator redesign plasmid to the re- incorporate the native Pc-araC architecture -ly 1x+ pAraC-117 4 pAraC-10s Figure 3.10: Optimization of araC expression levels with respect to target plasmid knockout kinetics. A time course is shown for the knockout of pSC101-based target plasmid pTAR(S) from DNAi strains harboring a 1xe or 1xc chromosomal actuator and spacer Y (pCR-Y) that express different levels of araC in either a wild-type araC/araBAD' (dashed line) or a AaraC-araBAD (solid line) genetic background. The 1xB actuator expresses araC from a constitutive PJ23117-araC cassette. Both the 1xc actuator and the wild-type araC locus express araC from an auto-regulated Pc-araC cassette. The pAraC-117 and 105 complementation plasmids (p15A, KanR) encode an additional (weak) Pn3117-araC and (stronger) PJ231os-araC respectively. cassette, expression constitutive Measurements reflect the fraction of cells that retain the pTAR(S) target plasmid (Target') in the DNAi ON state (2mM arabinose) and were performed via plate-based assay (Methods). All data are the average of three independent measurements performed on different days and error bars show the standard deviation. - 3.10, 10-6 U. roC./orAD') 46 (pACT-C), and then integrated this plasmid into our triple-knockout host to create the corresponding lxc actuator strain. As we had hoped, when tested under our base case conditions (pCR-Y, pTAR(S)), this revised accessory-free DNAi device demonstrated an equivalent rate of plasmid knockout to that previously observed with the accessory plasmid (Figure 3.10, purple X's). We therefore decided that arac dosage had been successfully optimized both with respect to DNAi kinetics and with respect to our additional practical design constraints. 3.4.5 Proto-spacer adjacent motif (PAM) In addition to spacer/proto-spacer complementarity, CRISPR-mediated DNA interference activity also requires a valid 3-bp 5' proto-spacer adjacent motif (PAM) , 5, 1. Previous work by 4 4 50 other groups using an experimental system in which phage-targeted cas/CRISPR over-expression blocked the propagation of M13 infection had empirically established a rather limited set of four functional PAM sequences, 5'-AAG, -AGG, -ATG, and -GAG". For the DNAi device to be utilized to its greatest extent, however, a more comprehensive and sensitive analysis of PAM function and kinetics was required. To this end, we constructed a comprehensive set of 64 target plasmids each containing one of the possible 3-bp PAM sequences immediately adjacent to non-coding proto-spacer X (Figure A.9). Similar to the pPAM-ATG target used for our initial phagemid blocking experiments, this set of target plasmids conferred streptomycin resistance (RFP-) and included an M13 origin of replication that allowed the plasmid to be packaged into a phage-like transducing particle in the presence of a M13K07 helper element (Methods). The corresponding library of transducing particles was prepared and used to infect samples of F' host cells harboring a p15A plasmid-based actuator and either an on-target (X) or off-target (N) CRISPR plasmid that had been pre-induced with arabinose (2 mM). If a particular library member contained a valid PAM for proto-spacer X, the resulting properly-targeted DNAi activity would reduce its relative transduction efficiency (RTE, Methods) (Figure 3.4). Using this transduction-blocking assay we identified ten strong PAMs (Figure 3.11, dark blue shading, -Log(RTE) 2.0), which included all four canonial sequences (black outline) and five weak PAMs (light blue shading, 0.5 < -Log(RTE) < 2.0). In addition, the 5'CCG anti-PAM (gold 47 outline), which allows the cas/CRISPR machinery to discriminate self (i.e. host-encoded CRISPR spacer) from non-self (i.e. valid proto-spacer target), demonstrated no appreciable phagemidblocking activity (-Log(RTE) = 0.1). This expanded PAM set will allow designers to target a considerably broader range of native sequences while simultaneously enabling more comprehensive prediction of possible off-target interactions. - Loglo(RTE) 14 N 3 NI .2 0.4 -0.1 0.1 0.4 0.2 0.0 0.1 -0.1 C 0.1 0.2 0.4 0.0 G .3 0.1 0. 0.2 0.2 0.1 0.8 0.1 0.2 0.2 . 0.8 0.2 0.1 0.1 .1 0.1 0.1 0.2 0.1 0.1 1.0 0.1 0.5 0.8 0.1 0.1 -0.1 .1 0.1 -0.1 0.1 0.3 0.1 0.3 0.2 0.1 0.2 0.1 0.0 T LN2 0.2 A A C GTA A C IG T A C C G G T AC T Figure 3.11: Effect of PAM sequence on phagemid transduction efficiency. Data reflect the negative log-scale RTE values for each PAM as determined via the phagemid blocking assay described in Figure 3.4 and Methods. Ten strong PAMs (dark blue; -Log(RTE) > 2.0) and 5 weak PAMs (light blue; 0.5 < -Log(RTE) < 2.0) were identified in this manner. The previously identified canonical PAM sequences are outlined in black 49 . The gold outline corresponds to 5'-CCG, which matches the 3 nt of the crRNA immediately 5' to the spacer sequence was used as a negative control. Data reflect the average of three independent measurements performed on different days. We subsequently performed a series of plasmid knockout experiments in order to quantify more precisely the relative kinetic effects of the fifteen strong and weak PAMs on DNAi activity. These experiments required a higher time-resolution than our previous analyses, and so a cytometry based assay was developed to measure the fraction of target-positive cells in a given sample based on RFP fluorescence (Methods). Host strains containing a lxc chromosomal actuator, an on-target (X) CRISPR targeting plasmid, and a pSC101 target plasmid (RFP', Figure A.9) encoding spacer X coupled to one of the 15 active PAMs or a 5'-CCG negative control PAM was subjected to standard plasmid knockout conditions (Figure 3.12). The kinetic profiles of target knockout for each PAM were then characterized with respect to three parameters (Table 3.1): time to initiation of target loss (tiag), whether the target decay curve possessed one (monophasic) or two (biphasic) distinct linear regimes, and half-time of target loss for a given linear regime ('n). 48 B A 0 Time Post-Activation (hr) 6 4 2 8 100 -0x CRISPR 10-1 pSC101 0 RFP Target Plasmid PAM (5'-NNN) x Std ILL 10-2 AAG AGG ATG GAG 10-3 - Strong PAM Weak PAM CCG 10-4 Figure 3.12: Effect of PAM sequence on the kinetics of plasmid knockout. (A) The X spacer is designed to be present in a non-coding region of the pPAM-NNN-RFP target plasmid series (pSC101 origin, StrR), where NNN corresponds to a different X-associated 3-bp PAM sequence of the form 5'-NNN-[Spacer X]. The X spacer sequence is presented in Table A.1. (B) The dynamics of plasmid loss are shown for each of the active PAM sequences. Data are for the lxc DNAi device, X spacer targeting plasmid, and a pSC101 target (RFP*, StrR) and reflect the fraction of cells in the ON (Methods). Black state (2 mM arabinose) that retain the target plasmid (Target') as determined by PAM kinetic assay 50 lines (AAG, AGG, ATG & GAG) correspond to the canonical PAM set identified by Westra et a . All canonical PAMs are classifiably strong PAMs. Target plasmid decay curves are truncated at the point in time where the fraction of Target' cells reaches its minimum value. Error bars have been omitted for clarity but are shown in Figure A.10. 49 Table 3.1. Summary of kinetic parameters for active PAMs PAM" tnit (h:m)b kic Ti (min)d k 2 ce T2 (min)d -Logio(RTEY AAA 2:50 2.56 16.2 6.07 2.98 4.0 AAC 2:40 3.50 11.9 5.66 3.19 3.5 AAG 2:40 19.9 2.09 AAT 2:50 1.76 23.6 AGG 2:50 8.63 4.82 3.6 ATA 3:30 7.11 5.85 2.2 ATG 2:50 11.1 3.75 2.9 CAG 4:00 0.961 43.3 GAG 2:50 7.84 5.31 GGG 5:00 0.114 363 0.402 103 0.5 GTG 4:00 1.40 29.8 2.78 15.0 0.8 TAA 4:00 1.63 25.6 2.88 14.4 0.8 TAG 2:50 9.65 4.31 TGG 4:00 1.58 26.3 TTG 3:30 7.74 5.37 3.8 6.33 1.95 2.85 21.3 3.2 0.8 3.4 4.0 2.77 15.0 1.0 2.1 a. Bold face corresponds to canonical PAMs b. Time to initiation of target loss (toit) was measured as time required for target retention to drop below 95% c. The linear region(s) of log-scale decay curves from Fig. 3C were fit to the equation y = A*exp(-k*t) d. Half-time of decay in minutes, T,, was calculated as 60*ln(2)/kn e. For kinked curves with two distinct linear regimes, ki corresponds to the fit for the earlier segment, and k 2 for that of the later. f. Values correspond to Fig. 3.B 50 Based on these three parameters, the fifteen strong and weak PAMs could be further subdivided into five sub-classes. The first and fastest class contained the four canonical PAMs (5'-AAG, -AGG, -ATG, and -GAG - Figure 3.12, black lines) in addition to the strong PAM 5'-TAG and was characterized by a rapid-onset (2.5 h < tiag < 3.0 h), very fast (2.0 m < c < 6.0 m), monophasic decay of the target signal. The second set, containing the 5'-AAA, -AAC, and -AAT strong PAMs, demonstrated a similar onset of target knockout (2.5 h < tag< 3.0 h), but the target signal decay was biphasic with a slow initial phase (10 m < T,< 25 m) preceding a fast later phase (2.5 m < t2 < 3.5 m). The third intermediate group contained the strong PAMs 5'-ATA and -TTG and demonstrated notably slower onset of knockout (tag = 3.5 h) and a slightly slowed (,r -5.5 m) monophasic signal decay. The fourth set, comprised of the four slow PAMs 5'-CAG, -GTG, -TAA, and -TGG, conferred a late onset of knockout (tag= 4.0 h) and a biphasic, slow decay (14m <t 2 < 22 m). The final class contained only a single PAM, 5'-GGG, which demonstrated the latest onset of target knockout (tag = 5.0 h) and a biphasic signal decay with the longest half-times (1i= m and T2 = 363 103 m). It also should be noted that for all samples target knockout ceased no later than 7 h post-induction, and thus knockout was significantly more efficient overall for the first three faster PAM groups (~10-4) compared that of to the last two slower PAM groups (>10-2). This extensive characterization enables a designer to select a PAM with a kinetic profile tailored to the desired application. 3.4.6 Actuator copy number The primary goal of our initial attempts to build a functional DNAi device was to suppress the activity of the OFF state so that the construct would be sufficiently genetically stable to perform the necessary characterization experiments in a reliable fashion. Unfortunately, as we observed from phage blocking experiments (Figure 3.5), our efforts to bring the DNAi OFF state under control also had the consequence of lowering the maximal activity in the DNAi ON state. However, a device with a maximal dynamic range in DNAi activity would enable the largest number of possible applications, and so it would be worthwhile to investigate whether the device's maximal induced activity can be increased without causing the device to fail in the OFF state (i.e. 8-h target retention <95%). The easiest way to accomplish this would be to add 51 We therefore constructed two additional chromosomal copies of the actuator sequence. additional DNAi device variants in which either two copies ('2x') or three copies ('3x') of the actuator sequence (pACT-B) had been integrated into the host chromosome. These addition integrations were targeted to the AaraC-araBAD and/or the APiaci:/aC/ loci, which had been altered during the original parent strain's construction (Table A.2). The kinetics of pTAR(S) target plasmid loss were measured for host strains harboring either the lXB, 2 XB, or 3 XB pACT-B-derived actuator and spacer Y (pCR-Y, CmR). In line with our expectation, increased actuator copy number correlated with an increased rate of target plasmid Time Post-Activation (hr) These disappearance (Figure 3.13). 2 initial multi-copy actuator strains had however, so and they (U We 0- wished to confirm whether boosting profiles even further, and so we 10-4 CO 0 araC levels would improve their kinetic .4-j 10-6 LA_ 10-8 augmented the 3x actuator with the stronger pAraC-105 (p15A, KanR) accessory plasmid and then re-assayed its performance. As expected, the rate of target considerably increased knockout (Figure 3.13, red strain, we constructed the 3x strain to include an auto-regulated Pc-araC cassette by integrating pACT-C at the 2x, -- -amnem 3x, 3 10-10 + pAraC-105 FiRure 3.13: Effect of actuator copy number on the kinetics of target plasmid knockout A time course is shown for the knockout of pSC101-based target plasmid pTAR(S) from DNAi strains programmed with either spacer Y (solid line) or dual spacer Y+Z (dotted line). These strains contain either a 1xB, 2XB, 3xB or 3xc chromosomal actuator. Both the pAraC-105 accessory plasmid (p15A, KanR) and the pACT-05-derived actuator encode araC diamonds), and so similar to our expression reconstruction of the lxc actuator 8 10-2 possessed sub-optimal araC levels and were likely under-performing. 6 100 been built with the original PJ2311-araC cassette, 4 cassettes (PJ231os-araC and Pc-araC cassette, respectively) that significantly boost araC expression within the host. Measurements reflect the fraction of cells that retain the pTAR(S) target plasmid (Target') in the DNAi ON state (2mM arabinose) and were performed via plate-based assay (Methods). All data are the average of three independent measurements performed on different days and error bars show the standard deviation. 52 APLacI:/aC/ locus, thereby yielding and 3xc actuator strain. Combining what we had learned from our series of kinetic optimizations, we assembled a DNAi strain harboring the 3xc (v1.0) actuator, dual Y+Z spacers (pCR-YZ), and measured the kinetics of pTAR(S) knockout under DNAi ON conditions. As predicted, the rate of plasmid loss was the fastest yet observed (Figure 3.13, purple x's), slightly exceeding that of the accessorysupplemented, all-pACTO4 3x strain (red diamonds). A strain with an additional fourth copy of the actuator sequence (pACT-C), which was integrated at the site of a ArhaSR-rhaBADM deletion, was constructed, but its kinetic characterization was abandoned in favor of other efforts. The 3xc actuator was decidedly sufficient for our subsequent investigations. The rather dramatic >10 4 -fold increase in maximal plasmid knockout efficiency that accompanied these actuator modifications was the focus of the experiments discussed in greater detail below. 3.5 Optimization of DNAi device knockout efficiency 3.5.1 Introduction Contemporaneous with our efforts to elucidate and optimize the DNAi device's relevant kinetic parameters, we were engaged in parallel efforts to maximize its efficiency with respect to target plasmid knockout. Based on our phage blocking experiments, in which as few as ~1 in 10s transduction events was successful (Fig 3.5), we hoped to be able to exceed our original 99.9% target plasmid elimination threshold by at least a few additional orders of magnitude or perhaps more. After examining our initial kinetic data, we noticed that all of our DNAi strains harboring an integrated copy of pACT-C and its associated Pc-araC cassette always reached their minimum value for target plasmid retention well before then end of the 8-h DNAi induction time-course, even when the slowest spacer (Y) was used (Figures 3.10 & 3.13). We therefore opted to focus our efficiency optimization efforts on this class of actuator variants only. In doing so, we could be confident that our measurements were not kinetically-limited. 53 3.5.2 Design parameters affecting plasmid knockout efficiency Our standard plasmid knockout efficiency assay was similar to our kinetic measurements. Strains harboring a lxc or 3xc chromosomal actuator variant and a pSC101-based target plasmid - (pTAR(S), RFP+, StrR) were programmed with one or more on-target CRISPR spacers (pCR-X, -Y, Z, -YZ, pUC19, CmR). A lXc actuator strain programmed with spacer N (pCR-N), which lacked a cognate proto-spacer in either the target plasmid or the host genome, served as an off-target negative control. Cultures were then subjected to conditions that either induced (+2mM arabinose, DNAi ON) or repressed (+0.5% glucose, DNAi OFF) DNAi activity for 8 h in the absence of antibiotic selection for the target (-spectinomycin), at which point the fraction of targetpositive cells was measured via plating assay (Methods). 100. 10-1. 10-9 DNAi OFF ON CRISPR N Actuator 1xc X 1xc ON OFF ON OFF ON OFF ON OFF ON OFF ON Y Z Y+Z X 1xc 1xc 1xc 3xc Y 3xc Z 3xc Y+Z xc OFF ON, OFF ON OFF Figure 3.14: Systematic optimization of target plasmid knockout efficiency. Data for the knockout of target plasmids are'shown for different spacers and numbers of actuators carried in the chromosome (lxc and 3xc). The fraction of cells that retain the pSC101 origin pTAR(S) target plasmid (Target+) is shown in the OFF (repressed by 0.5% glucose) and ON (2mM arabinose) states. The OFF data and the 1x/N ON data were obtained using the cytometry assay and the remainder were obtained by the plate-based assay (Methods). All data are the average of three independent measurements performed on different days, and error bars are the standard deviations We examined nine different DNAi strains in which proto-spacer location, spacer multiplicity, PAM sequence, and actuator copy number were independently varied in order to find the set of design parameters that maximized the device's knockout efficiency (Figure 3.14). From a strictly practical perspective, our optimization was highly successful. The fraction of target-positive host cells following knockout was reduced more than 10 4 -fold from ~2x10-4 for each of the 1x actuator cases to less than 4x10-9 for the best-performing 3 xc actuator/Y+Z device. In absolute terms, this fraction corresponded to a target-positive host cell titer of only 3x101 54 cfu/ml. Furthermore, we were also reassured to observe that our systematic enhancement of DNAi ON state kinetics had not simultaneously increased leakage activity to the point where it destabilized the device in the DNAi OFF state. In all eight on-target strains tested, including the one believed to have the highest specific activity of DNAi (3xc actuator, Z CRISPR), 97-99% of host cells retained the target plasmids for the necessary 8-h interval under DNAi-repressing conditions. 3.5.3 Analysis of plasmid knockout survivors While finding a set of design parameters that improved function was a relatively straightforward exercise in combinatorics, extracting the relevant design principles underlying the success of the 3xc/Y+Z device was more complicated. For example, it was initially unclear why certain alterations, such as increasing the spacer multiplicity from one to two (i.e. Y or Z vs. Y+Z), improved performance when implemented in the context of the 3x actuator but not in the context of the 1x actuator. It was also not immediately obvious why a similar discrepancy applied to devices with a single non-coding target (X) versus a single essential target (Y or Z). To determine the causes of this and other effects, we conducted failure mode analysis in which we characterized individual spectinomycin-resistant clones that had survived our plasmid knockout conditions with their target DNA intact. Specifically, we wished to determine whether these survivors still possessed intact DNAi machinery or whether they were loss-of-function mutants. In addition, if they were indeed mutants, we sought to determine which of the three essential DNAi components (i.e. actuator, spacer, or proto-spacer) had been inactivated. Unfortunately, the DNAi strain variants from our efficiency optimization experiments carried their CRISPR and target components as two separate plasmids, which we feared would complicate our genotypic analysis. We therefore opted to perform our failure mode analysis on a set of analogous DNAi strains that instead contained just a single pSC101-based cis-targeted plasmid. These cis-targeted plasmids encode both a constitutively expressed CRISPR array and the corresponding valid proto-spacer sequence(s) (pCisTAR(S), StrR, RFP+, Figure 3.15A). 55 A PJ2310 AX pSC101 C pCisTAR(S)-M Y Z3 .C M13 on Y CRISPR PJ 23 117 N..+ B 100 4C . 106 DNAi Spacer Actuator Targeting C OFF ON N 1xc OFF ON X 1xC cis cis * OFF ON J OFF ON Z Y 1xC 1xc Target mutation2.x0 No mutation Loss-of-function mutants: 1.3x10- 1.3x10-5 5 OFF ON Y+Z 1.3x10-5 xc OFF ON Y+Z 3xc cis cis+trans 43/43 0/48 3 cis cis cis cis 5.6x10-6 8.8x106 Actuator mutation CRISPR mutationn N J OFF ON OFF X Y+Z 3xc 1xc 6 7.3x10- A7N9 W W 44/44 48/48 WL 48/48 W 48/48 42/42 Figure 3.15 Characterization of DNAi device functionality and escape mutants. (A) The map for the pCisTAR(S)-M set of cis-targeting plasmids, which encode both a constitutively-expressed spacer ('M') and its corresponding protospacer, is depicted. The set is otherwise isogenic with pTAR(S). Spacer combinations are shown below, and their sequences are provided in Supplementary Table A.1. (B) Data for the knockout of cis-targeted plasmid are depicted for different spacers in combination with different actuators (genomic 1x and 3x). The fraction of cells that retain the cistargeted plasmid (Target') is shown in the DNAi OFF (repressed by 0.5% glucose) and ON (2mM arabinose) states. The OFF data and the 1x/N ON data were obtained using the cytometry assay and the remainder were obtained by the plate-based assay (Methods). All data represent the average of three independent experiments performed on different days and the error bars are the standard deviation. (C) DNAi device failure modes for each on-target strain subjected to DNAi ON conditions in (B) are shown. The particular loss-of-function mutation class was assigned based upon which of a series of complementation plasmids did or did not restore a surviving clone's DNAi activity (Methods) using the framework described in Table A.8. The numbers labeling each pie sector indicate the predicted fraction of total cells from the experiment in (B) that contain the specified mutation, and this fraction was calculated as [Fraction target+ DNAi ON cells from (B)]x[# Clones containing specified mutation]/[Total # clones analyzed]. Pie charts are vertically aligned with the corresponding strain in (B). 56 We harvested surviving clones (StrR, target+) from cis-only targeted DNAi strains encoding X, Y, Z, or Y+Z spacer combinations that had been subjected to 8 h DNAi-inducing conditions (Methods). Subsequent mutation analysis revealed that 100% of the isolates from all cis-only targeted strains were loss-of-function that could not be re-induced (Figure 3.15C). We next examined the statistics of individual component failures for each strain, and thus made the key observation that under these conditions, the device's knockout efficiency is ultimately dictated by the single DNAi component that is most likely to fail. Changing a specific DNAi design parameter can indeed improve knockout efficiency significantly, but only when that change lowers the probability of the dominant component's failure to a sufficient extent that mutations in the next most failure-prone component now come to dominate, thereby establishing a new, higher efficiency ceiling. 3.5.4 Design principles for optimizing plasmid knockout efficiency We were able to determine that there are two main avenues through which one can lower the probability of a DNAi component's failure. First, redundant copies of any component (i.e. actuator, spacer, or proto-spacer) means that all copies must break down before the component fails entirely, and such coincidences are less likely. Second, choosing proto-spacers located within essential ORFs limits the number of possible mutations that are capable of both disabling DNAi and leaving the cell viable, thereby lowering the frequency of proto-spacer inactivation. In light of this cogent theory explaining the workings of our DNAi device, the somewhat peculiar trends from our trans-targeted DNAi efficiency measurements highlighted above appear less obtuse. Spacer multiplicity only improves performance in the 3xc actuator case, because for all lxc actuator strains, the actuator is the most failure-prone component whereas in the 3xc strains it is the least. Increasing actuator copy number from lxc to 3xc has large positive effect on efficiency when a single essential sequence is targeted (proto-spacer Y or Z) but has very little effect when a single non-essential sequence is targeted (proto-spacer X), presumably because proto-spacer mutations become dominant in both 3xc cases and the probability of incurring a DNAi-inactivating mutation is much more like to occur in proto-spacer X than in proto-spacers Y or Z in a viable cell. 57 These design principles also empowered us to make forward predictions regarding improvements in our device's performance. For instance, we observed that the cis-targeted 3xc/Y+Z DNAi strain was ~1000-fold less efficient in removing the target plasmid than the corresponding trans-targeted strain. With the aid of our escape mutant characterization, we determined this discrepancy was likely the result of lower redundancy of the CRISPR spacer in the former case (10-12 copies vs. "500 copies). We therefore hypothesized that adding an additional ~500 redundant copies of the Y+Z spacer combination to the cis-targeted strain through complementation with our trans-targeting CRISPR plasmid (pCR-YZ, pUC19, CmR) would restore the strain to maximal efficiency. Indeed, we were correct. After the (cis+trans)-targeted 3x/Y+Z strain was subjected to standard plasmid knockout conditions, the fraction of host cells retaining the target plasmid was reduced from 1.9x10-6 to 2.0x10-9 (Figure 3.15B) This case also demonstrates that if our design strategy reduces the individual probabilities of failure each component low enough, the system is no longer mutation limited. Instead, of the 48 surviving (cis+trans)-targeted clones tested, all 100% were transient escapees whose DNAi activity could be re-induced (Figure 3.15C). As expected, a similar analysis of the equivalent trans-only targeted 3xc/Y+Z DNAi ON survivors again revealed that 100% of clones (48 of 48) were transient escapees as well. 58 4. Characterization of the optimized CRISPR DNAi device 4.1 Scope of DNAi device plasmid knockout functionality 4.1.1 Effect of target copy number on DNAi knockout efficiency and kinetics Having arrived at an optimal design, the 3xc actuator coupled with a Y+Z spacer, we wished to further investigate the DNAi device's properties and capabilities. We began by screening its activity against an array of similar targets with varying copy numbers. These target plasmids were constructed by substituting the pSC101 origin of replication (10-12 copies/genome) present in the original target plasmid (StrR, RFP+) with either a pBAC (1-2 copies/genome), a p15A (20-30 copies/genome), or a pUC19 (>500 copies/genome) origin. All four target variants were then transformed into a host containing the optimized DNAi device (3x actuator, Y+Z CRISPR), and the resulting strains were subjected to plasmid knockout conditions (2 mM arabinose, -spectinomycin) for 8 h, during which time the fraction of host cells retaining the target plasmid was measured periodically. Under these conditions, certain elements of the performance of the optimized DNAi device were largely independent of copy number (Figure 4.1A). The overall efficiencies of target plasmid knockout after 8-h induction for pBAC- (8.9x10 1 0 ), pSC1O1- (2.9x10-9 ), pl5A- (4.3x10-9 ), and pUC19-based (1.5x10-9) targets were all comparably high. In addition, the kinetic profiles of DNAi-mediated knockout for each target were reasonably similar. Once the PBAD promoter activates after 2 h (Figure A.8), plasmid knockout was quite rapid, and the largest change in the fraction of cells retaining the target occurred within the first hour following the onset of observable plasmid loss. While the precise rate of this plasmid loss did appear to be somewhat inversely related to target copy number, the effect was only prominent for the very-high-copy pUC19-based target. It should be noted, however, that preliminary experiments with a much less active DNAi device (1xB/Y CRISPR) suggested that target copy number exerts a much stronger effect on DNAi kinetics in this slower regime (data not shown). 59 A Time Post-Activation (hr) 8 4 6 2 0 B 102 pSC101 Target pBAC Target p15A Target 10-2 LPBAC - zl Pci9 ... p15A1 p I UOFN pUC19 Target -2 ff 106 I I03 I 101 DNAI spacer OFF ON N OFF ON Y+Z OFF ONIOFF ON N Y+Z OFF ON OFF ON N Y+Z ON OFF N OFF ON Y+Z Figure 4.1 Plasmid knockout kinetics and target DNA depletion using the optimized DNAi device. (A) A time course is shown for the knockout of target plasmids (pTAR('X'), StrR, RFP ) containing different origins of replication. The inducer (2 mM arabinose) is added at t = 0 hr and time aliquots are analyzed using the plating assay to determine the fraction retaining the target plasmid (Methods). The vertical dashed line indicates t = 2.25 hr, the time at which the PBAD promoter activates to initiate the synthesis of DNAi actuator components (Figure A.8). All of the data were gathered using the 3x DNAi device and the Y+Z dual spacers. When the target contains the pUC19 origin, the plasmid containing the targeting array was changed to a compatible RSF origin (pCR-YZ* and pCR-N*). (B) The recovery of target plasmid DNA sequences via PCR after the 8 hr induction of DNAi as performed in (A) is quantified via qPCR and is given in terms of absolute copy number per milliliter of culture (ACNculture; Methods). All data represent the average of three independent experiments performed on different days and the error bars are the standard deviation. 4.1.2 DNAi-mediated depletion of target plasmid DNA As we had originally envisioned using the DNAi device to prevent the escape or theft of proprietary or dangerous genetic information, we next examined the ability of the DNAi to render the target DNA sequence more difficult to recover via PCR-based methods. The optimized ontarget (Y+Z) and off-target (N) DNAi strains containing targets with varying copy number as described above were subjected to DNAi activation (2 mM arabinose) or repression (0.5% glucose) in the absence of selection for the target plasmid (-spectinomycin) for 8 hr. Total plasmid DNA was then isolated from each sample, and qPCR was used to quantify the amount of recoverable target DNA sequence in terms of absolute copy number (Figure 4.1B, Methods). As expected, no appreciable reduction in the amount of PCR-recoverable DNA sequence was observed upon device activation for all off-target variants (CRISPR N). In contrast, when the DNAi was properly targeted (CRISPR Y+Z) device activation drastically diminished the amount of recoverable DNA present in the sample relative to that present in the corresponding repressed sample. The fold-reduction in copy number between the DNAi OFF state and the DNAi ON state 60 was 1.1x104 , 4.6x10 4, 6.8x10 2, and 1.2 x10 4 for the pBAC-, pSC101-, pl5A-, and pUC19-based targeted, respectively. Thus, the DNAi not only enables the controlled and precise alteration of host cell genotype and phenotype, but also represents a way of destroying the very DNA sequence information underlying that genotype. 4.2 Impact of the DNAi device on host growth and genetic stability 4.2.1 Effect of DNAi activity on host growth Given the properties of the DNAi actuator cas components to bind and cleave DNA, off- target catalytic activity could potentially result in toxicity manifested as slower growth of the We assessed the toxicity of the DNAi ON state by measuring cell density (in cfu/ml) host. following 8 h of continuous growth in the presence of varying concentrations of inducer (Figure 3 4.2A). The measurements were based on the xc actuator and contained the Y+Z dual spacers B A 24 2.5 - -. 2.0 22 - 0 1.5 4 1.0 18 0.0 - 0 / - , - , - 10-1 10-3 Ara (mM) ' - ,16 101 0 , , -- , ,10-1 10-3 Ara (mM) - 0.5 101 Figure 4.2: Growth impact of strains carrying the DNAi device. (A) The cell density is shown as a function of inducer (0-10 mM Ara) for cells containing either the 3x DNAi (black circles) device or no actuator (gray squares), along with the Y+Z dual CRISPR targeting array (pCR-YZ, CmR), and a target plasmid (pTAR(S), RFP , StrR). Measurements of viable cell titers in cfu/ml were made by plating serial dilutions of cultures onto solid media without selection for the target plasmid (Methods). (B) Doubling time (in min) as a function of inducer (0-10 mM Ara) for host strains carrying a Y+X CRISPR plasmid (pCR-XY, CmR) and either the 3x DNAi device (black circles) or no actuator (gray squares). Data reflect the least-squares fit of an exponential growth model prepared from OD6 00 values measured at 3-min intervals between 60 and 90 min post-induction (Methods). Arrows indicate 2 mM arabinose, the inducer concentration at which all plasmid knockout and cell killing experiments are performed. The data are the average of three independent experiments performed on different days and the error bars are the standard deviation. 61 and the pTAR(S) targeting plasmid, which was being knocked out during the time course. Activity was well tolerated at the inducer concentrations used for the experiments in this manuscript (2 mM). Even upon maximal induction (10 mM), less than a 40% reduction in culture density was observed. Furthermore, the rate of cell growth was minimally affected as well. When analogous growth rate measurements were performed comparing the 3xc DNAi strain to the actuator-free strain, the maximal difference in doubling time was <1.5 min (Figure 4.2B) 4.2.2 Long-term stability of DNAi device function If the DNA targeted for DNAi knockout contains an essential gene, then even properly- targeted DNAi activity creates a toxic growth effect and thus a selective pressure against its own maintenance. Given enough time, even a slight pressure from the device's leakage activity might result in the accumulation of loss-of-function mutations that inactivate the device entirely. The long-term stability of DNAi performance in plasmid knockout experiments was therefore tested over many generations in continuous liquid culture. Cells containing the optimized 3x/Y+Z DNAi device and a pSC101 target were repeatedly passaged in the DNAi OFF state (0.5% glucose) with selection for the target plasmid (+spectinomycin) every 12 h for 90 days. At 48-h intervals, a sample of the culture was removed and subjected to a standard 8-h plasmid knockout experiment in which the DNAi was either induced (2 mM arabinose, DNAi ON) or repressed (0.5% glucose, DNAi OFF) under conditions allowing for the loss of the target plasmid (-spectinomycin). Initially, the device performed as previously characterized; less than 1 in 108 of cells in the ON state and >98% of cells in the OFF state retained the target (Figure 4.3). This optimal level of performance was observed through day 21, which corresponded to approximately 350 doublings and 101 07-fold total amplification of the initial sample based on OD600 measurements. After this point, the plasmid knockout efficiency in the DNAi ON state did begin to decline, albeit exceptionally slowly. Even towards the end of the 90-day experiment, the device was still largely functional. During no single 14-day interval over the course of the entire experiment did the average knockout efficiency in the DNAi ON state ever decline to a point where greater than 1 in 107 host cells retained the target plasmid. Furthermore, the OFF state remained completely stable, and the average fraction of cells retaining the target plasmid never dipped below 98%. By 62 the end of the full 90 days, which corresponds to a remarkable 1700 cell divisions, we had greatly exceeded our original goal of stably maintaining DNAi device performance over 100 cell generations. The fact that the continual passaging over this period also corresponds to a 10s20_ fold amplification of the initial inoculant made us more confident that a strain harboring the DNAi device could be cultured to populate even the absolute largest of industrial fermenters with little worry about compromising the strain's integrity. Time (d) 0 I . . I . I 70 60 50 40 30 20 10 . a . 90 80 a 10-2. C 10-6. I-U LA.I I01.Z . 0-10-III Figure 4.3: Long term plasmid knockout performance of the DNAi device in continuous culture. (A) The activity of the DNAi device was characterized periodically for three months. A strain containing the 3x DNAi device and the Y+Z dual spacer (pCR-YZ) and pSC101 target plasmid (pTAR(S)) was passaged every 12 hours under conditions where the device is OFF (0.5% glucose) (Methods). Every 2 days, aliquots were taken and analyzed via the These cytometry assay to determine the fraction of cells containing the target plasmid (Target') (white circles). was plasmid target the of fraction the and hours 8 for samples were then induced with 2 mM arabinose dashes). (black determined via plating assay (Methods) 4.2.3 Long-term stability of host metabolism while carrying the DNAi device Ultimately, the DNAi device was intended to be used in combination with other engineered biological systems. We therefore sought to determine whether the device might Protein overdestabilize the performance of other genetic programs running in parallel. expression is one hallmark of synthetic biochemical pathways, and so over the course of our 90day experiment, every time we assayed for DNAi performance, we also performed a parallel cytometric measurement of host RFP levels, which were generated from the pTAR(S) target plasmid's constitutive expression cassette, when the device was in its OFF state. As hoped, the average expression was exceptionally stable. If one does not include the three outlying points, 63 which correspond to technical errors in measurement rather than aberrations in strain performance, then the relative standard deviation of mean RFP expression at the end of the full 90 days was <1.2% (Figure 4.4A). In addition, as the corresponding RFP histograms show, this remarkable consistency in the mean RFP value does not mask a significant shift in the populationwide distribution of expression levels (Figure 4.4B). When combined with the data regarding the DNAi device's stable performance, these data strengthen the premise that the DNAi device in its OFF state represents a very small metabolic burden to its host. B A 106 Day 1 00000 0 105 0000000000000000000000000 00000000000 -Ci 0 o Day 31 0 UDay U_ 103 L. Day 11 ADay 21 41 Day 51 103 C102_____ EDay 61 101 Day 81 IDay 91 1001 0 10 20 30 40 50 60 70 80 90 100 101 102 10104 10s 106 RFP Fluorescence (A.U.) Time (d) Figure 4.4: Stability of target plasmid protein expression during cell passaging experiments. (A) Median RFP expression level for host cells containing the 3x DNAi device, a Y+Z CRISPR (pCR-YZ, Cm ), and an RFP+ target plasmid (pTAR(S), StrR) taken every 2 days as the sample is repeatedly passaged for 90 days in the DNAi OFF state (+0.5% glucose) (Methods). Outlier data points were due to technical error. (B) An overlay of RFP fluorescence histrograms corresponding to single cytometry measurements taken every 10 days during the experiment described in (A). Each histogram comprises >10,000 cells. 4.3 Targeting of DNAi activity to the host genome 4.3.1 Using the DNAi device to effect cell death In addition to its ability to cure plasmids, CRISPR-mediated DNAi activity can be directed against the host genome to kill the cel1 59,70. In order to determine whether the DNAi could be used to effect cell killing in a user-controlled manner, we constructed host strains containing the 3x genomic actuator along with CRISPR targeting plasmids encoding either a single genome- 64 targeted spacer (either G, or G 2) or an off-target spacer (N). The G 1 spacer was selected to target only a single chromosomal sequence that is directly adjacent to the actuator at the ACRISPR-cas locus. The G 2 spacer targets the attL sequence present in all three of the actuators, which are C B A Time Post-Activation (hr) 8 6 4 2 0 CRISPR G2 GI N Chromosomal Targets +1 * oriC G2 100 19. c- 0 0 Z 1.) 10-4 101. E colistr. K-12 MG1655 .U Zi 14' 10-6 G2o '11 G2 103.107. V-~ .2 101 1-8. 0 8 6 4 2 Time Post-Activation (hr) Figure 4.5: Cell killing dynamics upon targeting of Cas activity to the genome. (A) Two on-target spacers (GI and G 2 ) are shown along with the locations of their corresponding sequences in the E. coli K12 host chromosome. The G 2 spacer targets a site within the chromosomally-inserted actuator sequences (starred) and so those proto-spacer locations coincide with the three actuator locations . An off-target spacer (N) is used as a control as it does not target a sequence in the genome. The spacing from the G, target for the qPCR assays in Figure 4.6 is shown. (B) The kinetics of cell killing is shown, where the efficiency is presented as a ratio of the titer of viable cells between the DNAi ON (+2mM arabinose) and OFF (+0.5% glucose) states. The data are shown for the 3x actuator and the G, (pCR-G1) or G 2 (pCR-G2) targets (green diamonds and orange squares, respectively). The N control (pCR-N) is shown as blue circles. (C) The data from (B) expressed in terms of viable cell titers (cfu/ml). Vertical dashed lines indicate t = 2.25 hr, the time at which the PBAD promoter activates to initiate the synthesis of DNAi actuator on components (Figure A.8). All data represent the average of three independent experiments performed deviation. different days, and error bars indicate the standard separated by chromosomal distances of 300 kbp and 2.8 Mbp, respectively. Both the G 1 and G 2 spacers are oriented such that their respective crRNAs basepair with the genomic (-) strand upon target recognition. The relative chromosomal locations and multiplicities of the Gi and G2 protospacer targets are shown in (Figure 4.5A). With respect to the G2 proto-spacers, the genomic distance between sites varies between 300 kbp and 2.8 Mbp, and as such each intervening segment contains many essential host genes. 65 These on-target and off-target strains Time Post-Activation (hr) were subsequently induced with 2 mM arabinose ( ) (DNAi ON) or repressed with 0.5% glucose (DNAi 1004 OFF), and over an 8 h interval the ratio of viable cells for a given DNAi condition was periodically measured as the cell titer of the genome- - 4 6 8 LA_. 0 z 0 10-4 targeted sample (Gn) divided by that of the offtarget sample (N) (Figure 4.5B). For both the G 1 2 0 10- and G 2 - targeted strains in the DNAi ON state, host cell death was highly efficient, and the terminal viable cell ratios for the G 1 and G 2 samples were 7x10-7 and 8x10~9 , respectively. These values corresponded to exceptionally low 3 absolute viable cell titers of 7x10 cfu/mL for the - Gi-targeted strain and 9x10 1 cfu/mL for the G 2 targeted strain (Figure 4.5C). Similar to DNAimediated plasmid knockout, cell death was also quite rapid following its onset, with the largest change in the ratio of viable cells occurring between 2 and 3 h post-induction. Furthermore, after 8 hrs in the DNAi OFF state, the viable cell ratios corresponding to both genome-targeted samples were slightly greater than 1. This Fiaure 4.6: DNAi-mediated cell killing in the presence and absence of antibiotic selection. The kinetics of cell killing is shown, where the efficiency is presented as a ratio of the titer of viable cells between the DNAi ON (+2mM arabinose) and OFF (+0.5% glucose) states. The data are shown for the 3x actuator and the G 2 (pCR-G2, CmR) targets as determined by cell death assays (Methods) performed by plating without solid media with and onto chloramphenicol (orange squares and black triangles, respectively). The off-target negative control (pCR-N, CmR) is shown as blue circles. The vertical dashed line indicates t = 2.25 hr, the time at which the PBAD promoter activates to initiate the synthesis of DNAi actuator components (Figure A.8). All data represent the average of three independent experiments performed on different days, and error bars indicate the standard deviation. suggested that genome-targeted DNAi leakage activity, which might have otherwise resulted in on-target host cell death and slower net cell growth relative to the off-target control, was negligible. Targeting DNAi activity to the genome thereby killing the host and curtailing its biochemistry therefore enables yet another viable and efficient means of halting the amplification of all DNA sequences harbored within the cell. 66 4.3.2 Analysis of cell death assay survivors The aforementioned measurements quantifying the efficiency of DNAi-mediated killing were performed in strict accordance with our standard cell death assay, in which both the liquid media used during DNAi induction and the plates used to assay cell titer contain chloramphenicol in order to select for the CRISPR targeting plasmid (pCR). As the use of antibiotics is often costprohibitive in large-scale fermentations, we were curious as to how the absence of this selection would affect the DNAi device's performance. The G2-targeted strain was assayed once more under identical experimental conditions except that in addition to the normal plating with chloramphenicol selection, plating without selection was performed in parallel. Somewhat surprisingly, while the apparent efficiency of killing as measured with the +chloramphenicol plates reached its usual value, the apparent efficiency of killing in the same samples as measured with the non-selective plates was more than a factor of 104 lower (Figure 4.6). This ratio of efficiencies implied that >99.99% of colonies on the non-selective plates had lost their chloramphenicol resistance marker and the linked CRISPR array. This was confirmed by colony PCR (data not shown). We concluded that when implementing a DNAi device under non-selective conditions, the probability of plasmid loss is sufficiently high that it can become yet another mechanism for incurring a DNAi efficiency-limiting mutation. We next wished to determine whether the DNAi device's failure modes for cell killing were similar to those observed in our previous plasmid knockout experiments. Operating on the assumption that they were indeed similar, we formed a number of hypothesis about the composition of the survivor populations resulting from the Gr and G2-targeted experiments prior to beginning our investigations. First, because the efficiency of Gr-targeted DNAi activity was almost 100-fold lower that of G 2 -targeted killing, we projected that 100% of the surviving clones that we screened would be loss-of-function mutants. Furthermore, because of the redundancies built into both the actuator (3 copies/cell) and the CRISPR spacer (pCR-G1, pUC19 ori, >500 copies/cell) that lowered their respective probabilities of failure, we also hypothesized that 100% of the G 1 survivors would have mutations in the chromosomal proto-spacer target (1 copy/cell). Indeed, both of our hypotheses were correct (Table 4.1). Of the 108 clones screened, none could be re-induced to effect cell suicide, and all 108 had a noticeable defects 67 at the G, locus that would be expected to render DNAi at that target inactive given what is known about the stringency of crRNA-proto-spacer base-pairing requirements (Methods) 5 1. For most of the clones (82 of 108), this defect was rather large; a ~450-bp amplicon roughly centered on the Gi spacer failed to amplify by colony PCR suggesting that a large deletion of at least a few hundred base pairs had occurred. For the remaining 26 of 108, colony PCR succeeded, and so the G, locus was sequenced using these amplified products. As previously implied, all 26 of the sequenced clones had noticeable defects in G 1. Some were point mutants, a few possessed sizeable insertions disrupting G 1, but most were smaller deletions within or around the proto-spacer. The overwhelming preponderance of deletions in the region is consistent with, but not conclusive proof of, the notion that the host attempts to repair the double-stranded break created at the proto-spacer subsequent to DNAi-mediated cutting. Of course, if the repair successfully re-circularizes the genome before an essential gene is damaged while simultaneously damaging the proto-spacer sequence in the process, then the cell can survive indefinitely as an escape mutant. Table 4.1: Characterization of suicide assay survivors" Strain DNAi Phenotype Escape Mutations Actuator CRISPR TClones Transient Mutatione Actuatord CRISPR' Proto-spacerf IndeterminateQ 3x DNAi Gi 108 0 (0%) 108 (100%) 0 0 108 0 3x DNAi G2 105 82 (78%) 23 (22%) 0 0 6 17 a. b. c. Surviving colonies following 8-hr DNAi induction (see Methods "Suicide Assay") Transient escape survivors are able to re-initiate cell killing activity upon a second 8-hr induction of DNAi activity Escape mutation survivors are unable to re-initiate cell killing activity upon a second 8-hr induction of DNAi activity d. e. Actuator escape mutants are unable to knock out CRISRP/target hybrid plasmid pSELF-X upon DNAi activation (Methods) Escape mutants are identified via colony PCR of the relevant DNA followed by direct Sanger sequencing. f. g. Includes inactivating mutations in PAM sequence Location of escape mutation could not be determined due to confounding growth defects Reassured by the success of our predictions for the Gi-targeted case, we made another prediction for the G2-targeted sample. Given that a certain level of redundancy had been built into all components (3 copies actuator; >500 copies spacer; 3 copies G2 proto-spacer), we hypothesized that all of our survivors would be re-inducible, similar to what we observed for knockout of pTAR(S) with optimized DNAi device. Unfortunately, this time we were only partly 68 correct (Table 4.1). Of the 105 clones examined, when DNAi was re-induced under the usual conditions, 82 were indeed transient escapees (>100-fold drop in titer relative to DNAi OFF state) rather than loss-of-function mutants. Furthermore, for the remaining 23 clones, phenotypic determination of the host's DNAi status it was difficult due to confounding growth defects, which possibly could have resulted from DNAi-mediated chromosomal damage). Nevertheless, even though 17 of these clones were ultimately unclassifiable, through colony PCR and sequencing it was determined definitively that the remaining 6 contained DNAi-disabling mutations at all three G 2 proto-spacer sites. This too is consistent with our theory of post DNAi repair and resultant damage to chromosomal sequence, as the odds of three different sites along the genome acquiring these mutations independently is certainly lower than the observed frequency of this genotype. Of course, if DNA cutting and repair are ultimately shown to be part of the biochemical forces shaping the performance of the DNAi device, this information must be factored into any subsequent designs. 4.3.3 DNAi-mediated depletion of chromosomal DNA One of the primary advantages of using a targeted endonuclease is that specific regions of the genome can be targeted for degradation. This could be used to remove preferentially DNA associated with a highly engineered region or insertions containing synthetic pathways. Because the host's endogenous exonuclease activity combined with that specific to Cas3 presumably 100. 0-. cc E0 Z z -< - 10-_. 104. Spacer N G, NI Gj NI G1 NI G 1 NI GI 1kbp I 10 kbp 100 kbp I Mbp Dist. to G1 0 bp Figure 4.7: DNA recovery as a function of distance from proto-spacer. The ability to recover chromo-somal DNA sequences via PCR after the induction of DNAi for 8 hours is quantified as a function of distance from the single each For target. proto-spacer chromosomal is recovery of efficiency the chromosomal locus, measured as the ratio of the relative copy number (RCN) of the DNAi ON state divided by that of the corresponding DNAi OFF state (Methods). Chromosomal distances are measured as the center-to-center spacing between the PCR amplicon indicated and the singlyoccurring G1 chromosomal protospacer (NCBI NC_000913.3 position 2,887,466). Sequences for primer pairs are provided in Supplementary Table 5. All data of three independent represent the average experiments performed on different days, and error bars indicate the standard deviation. 69 chews the DNA target from both ends of the initial cut, we expected that, upon chromosomal targeting of DNAi activity, the DNA sequence corresponding to the region near the targeted protospacer would be significantly more difficult to recover. We applied a qPCR-based assay to test this hypothesis using DNAi activity targeted with the G, spacer, which is centered on position 2,887,466 of the E. coli str. K-12 genome (NCBI numbering), and compared it to the control (N). Both on- and off-target samples were induced, and qPCR was used to amplify five chromosomal loci at increasing distances (0 bp, 1 kbp, 10 kbp, 100kbp, and 1 Mbp) from the G 1 cut site (Figure 4.7, Methods). When comparing the DNAi ON to the DNAi OFF state in the case of the G1 spacer, the amount of DNA remaining from the region surrounding the target (0-1kb) is reduced >103fold. By 10kb, there is ~3.3-fold more DNA, but there is still significant loss. By 1MB, the amount of DNA is equal to that which is recoverable from the N control, whose DNA recoverability was not appreciably altered by the DNAi device's ON/OFF state at any distance from the G 1 protospacer. This demonstrates that the specificity of the Cas complex can be applied to selectively target regions of the genome while leaving non-targeted regions intact. Notably, all three copies of the DNAi actuator are entirely encoded within 10kb of a G 2 spacer. More specifically, the cas3 gene essential to DNAi function is within either 0.5 kbp (pACTA/B) or 1.5 kbp (pACT-C). It is thus exceedingly likely that during the G2-targeted cell killing experiments, the vast majority of host cells either irreparably damaged or completely degraded all three copies of their own actuator sequences before submitting to cell death. We also previously demonstrated that cis-targeted plasmids (pCisTAR(S)-M), in which both a self-targeted CRISPR spacer and its cognate proto-spacer are encoded on the same plasmid within 1 kbp of one another, are knocked out in a DNAi-dependent manner with efficiencies equivalent to the corresponding trans-targeted case. Taken together, these experiments demonstrate that the cas/CRISPR system is capable of targeted degradation of its own genetics. 4.3.4 Orthogonal cell death mechanisms increase killing efficiency Finally, given that DNAi-mediated cell killing efficiency was improved considerable when we designed redundant proto-spacer targets to avoid inactivation mutations, we hypothesized that the efficiency of cell killing could be similarly improved by layering DNAi-mediated 70 chromosomal degradation with another redundant method for cell killing. To test this we designed and implemented a second site-specific integrase-mediated killing strategy that 65 employed the Int5 site-specific serine recombinase as its actuator . The rather atypical design was as follows. Beginning with an older 1xB chromosomal actuator strain, we proceeded to integrate an additional synthetic DNA sequence encoding both a kanamycin resistance cassette and our standard proto-spacer X coupled to an 5'-ATG PAM into the genome at the AaraCaraBAD locus. This "loop-out" cassette is Time Post-Activation (hr) 0 flanked by the recombinase's cognate attBints and attPints sites, oriented in parallel such that 2 6 4 8 100 initiation of the site-specific recombination results in excision of the kanamycin resistance C gene and thus cell death in the presence of kanamycin. C A dedicated plasmid-based actuator that expressed the Int5 recombinase (plnt5act, p15A, AmpR) was constructed to activate 10-2 10-4 cc 10-6. 10-8- the integrase-mediated cell death pathway, while the embedded lxB actuator could be programmed with spacer X (pCR-X, pUC19, CmR) to effect DNAi-mediated cell death. For convenience, both actuators were coupled to PBAD promoters Figure 4.8: Combining DNAi-mediated and intergase-mediated cell killing methods in a single host. The kinetics of cell killing is shown for host strains harboring both a 1x chromosomal actuator (pACT-B-derived) and an Int5-targeted attBint 5-KanR- so that both systems could be switched into X-attPnW 5 chromosomal loop-out cassette along with the addition of cassettes for the expression of either spacer X (pCRX, CmR), Int5 (plnt05at,, Am pR) or both. Upon their ON states through arabinose (2 mM) and into their OFF states through the addition of glucose (0.5%). The aforementioned integrase-sensitive base strain was then transformed with the appropriate sets of plasmids to effect cell death either through integrase-mediated killing alone (plnt5act), through DNAi-mediated killing alone 71 induction, killing was initiated via chromo-sometargeted DNAi activity (blue triangles, pCR-X), integrase mediated looping-out of an essential gene (green squares, plnt5+), or both methods simultaneously (black circles, pCR-X+/plnt5act). All data reflect the ratio of viable cells between the ON (2 mM arabinose) and OFF (0.5% glucose) states when plated on kanamycin. Measurements were performed via plate-based assay (Methods). All data reflect the average of three independent measurements performed on different days and error bars show the standard deviation. (pCR-X), or through both pathways simultaneously (plnt5act and pCR-X). Over an 8-h period, the fraction of viable, kanamycin-resistance cells was measured as the ratio of cell titers between the devices' ON states (2 mM arabinose) and OFF states (0.5% glucose) in accordance with an adapted version of our cell death assay (Methods). As expected, while both DNAi-mediated killing alone (Fig 4.8, blue triangles) and integrase-mediated killing alone (green squares) were indeed effective at leaving only a small fraction of the host cells viable (4.3x10-5 and 6.3x10-4 respectively), the combination of the two killing modes simultaneously improved overall efficiency to where less than 3 in 108 cells survived induction (black circles). Thus, programming the host with redundant mechanisms of cell killing does indeed increase the robustness of the suicide response. 72 5. Discussion and Conclusions Having precise, dynamic control over the DNA contents of a living cell represents a potentially powerful means of manipulating biological systems for a wide variety of applications. To that end, we have exploited the CRISPR-mediated DNA interference phenomenon to design and construct a genetically-encoded DNAi device that degrades a set of user-specified DNA targets in a live E. coli host in response to a chemical input signal. The target DNA is completely stable when DNAi is in the OFF state but is rapidly and efficiently degraded when the device is switched into the ON state. Through an extensive set of parameterization and optimization experiments, we have determined which particular design specifications are important for maximizing both the kinetics and the degradative efficiency of CRISPR-mediated DNAi activity while minimizing its impact on the host's underlying metabolism. As a result, the optimized device is effective at knocking out plasmid targets with a wide range of copy numbers, demonstrates very little toxic effect on the host's growth or ability to over-express proteins, and is robust to continuous culture over hundreds of generations. Finally, we have shown that when DNAi activity was targeted to sites on the host chromosome, host cell death occurs, and the sequence surrounding the target site is rendered more difficult to recover. We have deliberately focused much of our experimental inquiries and optimization efforts on improving the DNAi device within the context of information security and biocontainment applications given the growing needs therein. For many biotechnology firms, engineered DNA constructs can be valuable assets that can confer a competitive advantage in the marketplace, but protecting these assets by maintaining trade secrecy with respect to their sequence information is a task fraught with unique challenges. First and foremost, the fundamental imperative of living entities to propagate their genetic material enables techniques such as cell culture and PCR that allow researchers to amplify samples as small as a single cell or nucleic acid fragment with high-fidelity into sufficient material to obtain reliable sequence information. This particular facet of biology has long been recognized as a potential avenue to procure genetically modified samples without the original developers' consent. During the 1950s and 60s, at the height of phage research, investigators toyed with the idea of obtaining 73 samples of mutant phage variants from competing groups by swabbing the letters and envelopes . used for written correspondence between the two labs 71 The combination of next-generation sequencing and rising large-scale gene synthesis technologies could undermine attempts at trade secrecy even further. For example, it may soon prove unnecessary to possess even a single complete and/or viable physical sample in order to replicate a piece of genetically-engineered biotechnology. Instead, incomplete fragments of DNA, potentially as short as tens of base-pairs and derived from a collection of disparate, nonfunctional sources, can be sequenced, re-assembled in silico, disseminated globally, and then synthesized de novo and transformed into an appropriate host on site to recapitulate perfectly a piece of proprietary technology. Under such conditions, the abstract sequence information itself harbors the value independent of how it is encoded. One documented episode of informationbased theft with noteworthy economic repercussions occurred between 2007 and 2010, during which time a corporate spy was selling trade secrets he had stolen from two of his employers, American biotech firms Dow AgroSciences LLC and Cargill Inc., to competing Chinese corporate and academic interests. Among the secrets stolen from Cargill was an electronic DNA sequence for a proprietary enzyme, with the associated loss valued at $7 million (USD) 7 1. One worrisome implication of these occurrences is that many entities exiting a research laboratory, whether they are electronic communications, waste streams, or finished products, can potentially harbor valuable sequence information would undermine trade secrecy and therefore may represent significant economic liabilities. Thus, there appears to be real value in technologies, such as our DNAi device, that can be used to "decontaminate" laboratory effluent and remove this sequence information, thereby mitigating these risks. In its current manifestation, the DNAi device could be employed to protect sensitive sequence information in a manner analogous to how a paper shredder destroys printed information prior to disposal. Following fermentation, the user actively intervenes and supplies a chemical input signal, which then switches the device into the ON state and results in sequence degradation within the sample. The resulting cellular material, with much of the sensitive information removed, can then be discarded or recycled as necessary with greater confidence that it will not be exploited by competitors. 74 With a specific application in mind, the question then becomes whether or not the performance of our optimized DNAi device is up to such a task. Our data suggest that the DNAi device reduces the concentration of targeted DNA >300-fold out to 10 kbp from the site of the initial DNAi-mediated cut, and a good read depth for a dedicated, single-lane MiSeq-type microbial genome re-sequencing experiment is ~100-300 reads. Thus, even under the most laboratory-like conditions in which the engineered host strain of interest is obtained "fresh from fermentation," our device's action will likely cause considerable difficulty in the de novo reconstruction of the targeted sequence compared to non-targeted regions. Nevertheless, we anticipate that our device's action will have the greatest impact on samples obtained from the greater environment, where DNA degradation from environmental stress and high concentrations of background DNA will further obscure the signal from the low-concentration targeted regions. In fact, compared to a similar DNA degradation device constructed from a nonspecific nuclease that degrades all DNA equivalently, the targeted nature of DNAi-mediated nuclease activity exploits this competitive inhibition effect inherent to "unbiased" sequencing methods to a greater extent. In more practical terms, eking out a minimum read depth of 1 across the sequence of interest may be sufficient to extract all, or at least the vast majority, of the information encoded therein. A ~300-fold depletion of DNA to counteract a read depth of 300 does suggest that perhaps the optimized device's performance still teeters on the tipping point for usefulness. An additional 10- or 100-fold improvement in the efficiency of chromosomal DNA elimination might therefore be necessary to demonstrate truly robust function in real-world applications. Given our extensive knowledge of the DNAi device's workings and limitations, however, we can conceive of a number of design solutions that might confer the necessary enhancements. For instance, tighter spacing of multiple proto-spacers blanketing a target sequence might create the necessary redundancy to reduce the probability of overall failure at that locus. In addition, because it appears that DNAi-mediated degradation competes with the host's error-prone attempts to repair the resulting double-stranded break (DSB) in its genome, targeting the rec genes responsible for this repair might result in more thorough and persistent exonuclease degradation". Finally, deliberately flanking targeted regions with stretches of repeated 75 sequences and/or chi recombination hot-spots might incentivize this repair process to recombine out the necessary sequences following DSB formation. Of course, there is no way of knowing for certain whether or not the current performance of the optimized 3x DNAi device or any reasonable derivative is sufficient to meet the needs of our proposed DNA sequence "paper shredder" application without first empirically testing its function under appropriate real-world environmental conditions. Unfortunately, those experiments were beyond the scope of this work, but they are certainly reasonable ones to perform as part of any subsequent endeavors. Ultimately, with respect to the protection of proprietary sequence information from theft, it is likely that our original paper shredder analogy can be carried one step further. With sufficient skill, patience, and diligence, any DNAi-treated sequence can presumably be reassembled from partial samples much like paper shreds can be meticulously reconstructed into a full document. Whether partial DNAi-mediated degradation alone proves a significant deterrent against illicit efforts to procure a particular genetically-engineered DNA sequence will likely depend on the balance between the cost of sequence reconstruction and the economic value of the reassembled sequence. For these reasons, the relative imperfection of the DNAi device is perhaps even better suited to biocontainment applications. Unlike theft protection, where either one's security measures succeed in preventing a competitor's acquisition of your information or they don't, the criteria for success and failure are not quite as binary with regard to biocontainment problems. Instead, a biocontainment solution that offers a reasonable amount of risk reduction or environmental remediation might be better than none at all. In addition the DNAi device's ability to effect the demise of both live cells and their DNA allows it to deal with a broader range of potential contaminating threats. For instance, an industrial accident could release 1017-1019 cells into the environment 3 . In such a scenario, a DNAi-mediated reduction of viable cells by a factor of 10- is equivalent to reducing the number of cells present in a 1M liter fermenter to those present in 10 ml of culture. This is well below the log-6 reduction in viable cells in the liquid/solid waste stream required by the US Environmental Protection Agency (EPA) and meets the log-8 76 reduction required by the US National Institutes of Health (NIH) E. coli host-vector (EK2) guidelines 7 4 for plasmid retention before disposal. At the same time, the proliferation of antibiotic resistant pathogenic bacteria has succeeded in raising more general concerns about the safety of releasing synthetic DNA constructs into the environment in any form due to the perceived risk of inadvertent horizontal gene transfer events involving naturally competent strains of microbes 75 . Many existing methods for effecting programmed cell death only lyse the host and do little to remediate levels of cellular DNA, which escapes into the environment 75 . When this extracellular DNA is released into the environment, it does eventually decay due to the action of nucleases produced by the soil microbiota", but with half-lives on the order of days. In fact, experiments with recombinant E. coli showed that DNA in soil could be detected by PCR for 28-60 days after release.' Applying DNAi activity to reduce extracellular DNA levels by ~104 -fold and live cell titers by 10 8 -fold could therefore potentially reduce the duration of the environmental exposure to this DNA by many days or months. Furthermore, if specific segments of a sample's DNA are thought to be particularly dangerous or undesirable, the device's DNAi can be easily reprogrammed to target those particular threats. Another particularly useful and somewhat unique characteristic of the DNAi device that we observed though our experiments is its capacity to degrade its own genetic information without fully interfering with its overall function. This property of "self-elimination" could prove extremely useful from both a biocontainment and secrecy protection standpoint. In terms of biocontainment, the release of the DNA sequences that encode the DNAi device, which is of synthetic origin itself, is potentially just as troublesome to future regulators as the synthetic DNA that the device was originally implemented to prevent from escaping. Thus, this capacity for "self-elimination" avoids a significant regulatory hurdle that might otherwise hinder attempts at real-world applications for other biocontainment systems. In terms of protecting the information contained within DNA from theft, self-elimination is helpful in that it removes valuable clues as to a recovered DNA sample's true value. For instance, if a competitor detects the DNAi device itself within one particular sample among a collection of others, then they are more likely to deduce that the sample in question contains the valuable proprietary information they seek. 77 Whereas before resource limitations may have made it impossible for them to pursue every lead and forced them to choose randomly, the additional information may incentivize them to concentrate their remaining resources to pursue this preliminary hit. In its current incarnation, the optimized DNAi device converts a chemical signal, specifically a high concentration of arabinose, into an output of DNAi activity, and as we have demonstrated, this arrangement works exceptionally well for measuring the device's properties within the well-controlled laboratory environment. Outside of the lab, however, that property could prove quite limiting, because more practical biotechnology applications may require the DNAi device to respond to a vastly different set of chemical or environmental signals. For instance, even from the standpoint of the aforementioned theft prevention and biocontainment applications it would be preferable to connect the DNAi input to sensors that activate when the cells are removed from a defined media or exposed to particular conditions (e.g., light or oxygen). Taken further, even more sophisticated controls can be achieved by connecting the device to the output promoter of a transcriptional genetic circuit; for example, genetic logic to integrate signals from multiple sensors that define a cocktail of chemicals specific to a media or environment. That way, the device can act as a safeguard without the need for active user intervention. Fortunately, the DNAi device was deliberately designed with this type of reprogramming in mind. In theory, any genetic circuit could be connected to the DNAi actuator component so long as its output spanned the required range of promoter activity, which we have explicitly characterized. Despite the DNAi device's successes, potential strengths, and adaptability, it is highly unlikely that the technology we have developed represents the singular, ultimate solution to any problem involving the unintended proliferation of DNA sequence. Given the relative fluidity of DNA's many usable and transmittable formats and the ease with which it can be amplified both in vitro and in vivo, any viable laboratory-, commercial-, or industrial-scale solution that provides comprehensive protection against unintended dissemination of the encoded information will likely require a combination of layered, redundant, compatible strategies rather than a single safeguard. Our preliminary experiments in which we combined DNAi- and integrase-mediated killing within a single host (Figure 4.8) have demonstrated that redundant cell death mechanisms can indeed be harnessed to increase the overall efficiency of killing. We therefore have every 78 reason to anticipate that DNAi will prove compatible with others' published systems for the containment of genetically modified organisms, including devices that implement programmed cell death, DNA deletion, and the recoding of the genome to require non-natural amino acids (reviewed in 75,76) in addition to having successfully constructed a highly functional and potentially useful genetic device, our investigations have also reemphasized the importance of certain design principles for successfully engineering synthetic biochemical pathways. Chief among these insights are strategies for reducing leaky gene expression. Specifically, chromosomal expression appears to be less leaky compared to plasmid-based expression of comparable copy number. Our optimized device with three chromosomal copies of the actuator sequence per cell demonstrated greater retention of the target plasmid in the DNAi OFF state (>98%) than the equivalent device harboring a BAC-based actuator (81%) that is maintained at 1-2 copies/cell. It is also clear that there can be positive externalities to reducing the leakiness of a system to its bare minimum, regardless of whether or not that extreme is required for the system's proper function. Our optimized 3x DNAi strain carried >25 kbp of actuator DNA that was of no direct benefit to the host in either the DNAi ON or the DNAi OFF state, and yet that sequence was maintained without antibiotic selection and without any noticeable loss of function for over 360 cell generations. It was only after 1700 generations that even a reasonable loss of functionality occurred. Thus, the rate of genetic drift within a population appears to be quite low, and from the DNAi host strain's perspective, the cost of carrying extra base-pairs is exceedingly low as long as those base pairs are not expressing anything. When it comes to ensuring reliability of function of a genetically encoded device, redundancy is perhaps most important. Even if the device is perfectly silent in its OFF state and thus represents an effectively neutral bit of genetic information from the perspective of host viability, genetic drift will ultimately result in the accumulation of loss-of-function mutations that will appear only after the device is switched into the ON state. Thus, unless there is a means of positively selecting in favor of a gene that is silent (a premise that seems intrinsically contradictory), redundancy is the only remedy to lower the probability of a component's total failure. 79 This finding is not novel; others who have built kills switches and suicide devices that have employed other biochemical mechanisms for inducing cell death have similarly found that mutation rates dominate failure rates under most conditions. Nevertheless, with respect to our DNAi-based device, our redundancy strategy was sufficiently successful that we lowered the probability loss-of-function mutation to the point where it no longer dominated. Instead, in the case of the optimized 3x device, a cell was more likely to transiently deactivate its DNAi pathway as a result of reaching stationary phase than it was to have undergone a DNAi-inactivating mutation over the course of our 8-hr knockout and killing experiments. The specific cause of this stationary phase deactivation was never determined, but considering the cells do not undergo appreciable cell death at this stage, perhaps a re-design of the system's components can provide a solution, in which case mutation may once more become limiting. Our experiments in which we measured the efficiency of cell killing without selection for a plasmid encoding essential DNAi component highlighted an inherent instability in plasmid maintenance (Fig 4.6). This finding was exceptionally surprising considering that the plasmid in question was high-copy, and so the notion that failure of DNA replication or segregation could cause hundreds of copies to fail seemed improbable. Fortunately, the probability of a given cell failing in this manner is low (~104 for a pUC19-based plasmid under our conditions), and so if the particular application of a genetic program requires <99.9% reliable performance, this failure mode will likely have little-to-no impact. Nevertheless, for applications in which the robust function of the maximal fraction of cells is desirable, as was the case with our DNAi device, this is a significant limitation, especially in the context of large-scale fermentations in which the use of antibiotics is cost-prohibitive. In these cases, this flaw must be circumvented in another manner, possibly through improvements in genetic design. One obvious and readily available solution for our DNAi device is to do away with plasmids all together and instead to integrate the CRISPR targeting arrays into the chromosome as we did with the actuator sequences. Other design solutions, such as incorporating a toxin-antitoxin system or moving an essential gene onto a plasmid, allow for negative selection against plasmid loss without the need to add antibiotics or other expensive chemicals. 80 Along similar lines, when extremely robust function and genetic stability is required, it is best to use natural selection to one's advantage and design genetic components such that their failure is actively selected against. For instance, when choosing how to integrate multiple copies of the actuator sequence, we could have opted to insert long head-to-tail tandem repeats into a single genomic locus. Unfortunately, long repeated sequences such as these are generally unstable in recA+ strains, because recombination reaction will change the copy number in one direction or another unless a selective pressure exists to the contrary 68. However, by choosing instead to integrate the copies of our actuator sequence at great distances from one another and to point them in the same direction, we guaranteed that any analogous recombination events that occurred in this context would remove a large swath of the host genome and kill the cell. Our preference for essential DNA sequences as proto-spacers similarly reflects this design principle for two reasons. These DNAi elements are less likely to fail due to the accumulation of random mutations, because most of the base pair changes that would otherwise render DNAi inactive are also lethal to the host and thereby prune themselves from the population. Furthermore, if DNAi mediated cutting is indeed actively counter-balanced by the host's somewhat error-prone attempts to repair its broken DNA, then a very likely outcome of DNAi activity at a specific site is a net alteration to the underlying sequence. Again, if this sequence is essential, this alteration will be selected against for the same reasons as above. The DNAi device we have constructed is a powerful, multipurpose tool that has been highly engineered for superior function. Given its abilities to cure plasmids, kill its host, or both, and to do so in a manner that places exceedingly little burden on the host's competing metabolic process, it may find use in a wide array of biotechnologies in addition to our proposed application of protecting sensitive DNA sequence information from theft or inadvertent release. Of course, while our device has operated strictly in the context of K-type E. coli, the organism from which its genetic components are derived, in the true spirit of synthetic biology, metagenomic engineering, and the unifying principles of biology's Central Dogma, there is every reason to believe that with the proper modifications our system could be adapted to function in diverse microorganisms or higher-order species. The extensive parameterization of the device's components that we have performed will be particularly useful in this organism-specific tailoring 81 process. At the very least, however, the lessons learned during the construction and optimization of the DNAi device will aid in designing the next generation of genetically encoded devices that are both highly functional and highly robust to the demands placed upon them. 82 A. Supporting Information A.1 Supplementary Figures B A PBAD PBAD PJ2317 PJ23117 cas genes A' B C DEaraC cas genes araC A 9 C D E pACT-A pACT-01 C7 PBAD Kan"colEl T F cas genes A B C D E cas genes A 6C D araC E PBAD KanRp15A araC pACT-B pACT-02 1!7 6T P123117 PMDo P123117 Kan attP T R6K FIRT Kan PC PBAD PJ2317 cas genes cas genes A. B 'C DE 4 arac araC A a C Q E pACT-C pACT-03 attP KnBACT : C R6K FRT KanR PJ231XX araC pAraC-xx pp5a CKanR the episomal Supplementary Figure A.1: Actuator and araC accessory plasmid maps. (A) With the exception of their origins of replication, the control of the actuator plasmids pACT-01 through pACT-03 are isogenic with one another. Expression of the cas3ABCDE operon is under araC gene is expressed arabinose-inducible PBAD promoter. P8AD function requires the expression of the AraC transactivator protein, and the of the cas3ABCDE expression pACT-C, through pACT-A from a weak constitutive PJ23117 promoter. (B) For the integrating actuator plasmids, and utilizes pACT-B and pACT-A both in constitutive is araC of Expression promoter. operon is under the control of the arabinose-inducible PBAD present site FRT single The araC. of expression controls Pc promoter auto-regulated native the pACT-C the same araC cassette as in (B), but in into integrate to plasmids this allowing thereby site FRT chromosomal corresponding a with recombination in pACT-A enables FILP-mediated Int5enabling of function analogous the serves pACT-C and pACT-B in present the host chromosome via loop-in mechanism. The attP sites pACT-C possess R6K origins in mediated recombination with a corresponding chromosomal attB site. Integration constructs pACT-A through initiate from these loci. The not does DNA chromosomal of replication unregulated MG1655, coli E. as such hosts order to ensure that in pirrecombination between FRT site present in pACT-B and pACT-C allows the plasmid KanR marker and R6K origin to be excised via FLP-mediated of pACT-A. (C) The araC integration following excised be cannot marker The site. FRT the plasmid-borne FRT site and an adjacent chromosomal (P2 117), while pAraC-105 uses a accessory plasmids are isogenic except that pAraC-117 expresses araC from weak constitutive promoter stronger constitutive promoter (Po 2 31 05 )- 83 A PJ23117 N PJ 23 1 7 PJ 23117 PJ23117 Repeat z A z Y Spacer -; P M13 ori colEl (pUC19) M13 ori colEl (pUC19) M13 ori colEl (pUC19) p CR-YZ pCR-Z pCR-Y pCR-N EPJ23117 N2A PJ2127 1 r+ N Xmm z Y M13 ori colEl (pUC19) N28 NC-N CMR LMR CMR M13 ori RSf M13 ori RSf r* G, r4 I pCRG1 I pCR-Xtt CMR CMR M13 ori p15A M13 ori colEl (pUC19) x + pCR-Xpi 5 a CM1 M13 ori PJ 231W Ptet A x AtetR1 r+ pR-G2 M13 ori colEl (pUC19) PJ23117 G CMR colEl (pUC19) CMR M13 ori colEl (pUC19) PJa3117 PJ2311, CR-N2 pCRX pCR-YZ* pCR- N* I M13 ori p15A B PAM: 5'-ATG PJ2,3O PAM: P231O0 5'-ATG |tx x ft pTAR(B) pTAR(S) Y Z Y Z PJ23I00 IpTAR(P) Y Z PAM: M13 ori pSC101 p15A M13 ori 5-ATG TT|x pTAR(C) YZ Sr SOr StraRr BAC PAM; 5'-ATG Tix ft M13 ori colEl (pUC19) M13 ori Supplementary Figure A.2: CRISPR targeting plasmid and basic target plasmid maps. (A) All DNAi device experiments require at least one repeat-flanked CRISPR spacer to direct DNAi activity. The transcription of all CRISPR arrays was constitutive. Due to the high copy number of the pUC19-based colEl plasmid, a weak PJ23 117 promoter was used. When experimental conditions created a conflict between the CRISPR plasmid's origin of replication and that of the target plasmid (Figs 1D and 1E), the CRISPR plasmid colEl origin was substituted with an RSF origin (highlighted in red). For these RSF variants, a stronger constitutive promoter (PJ2311 - highlighted in red) was used in order to offset the drop in crRNA expression due to lower CRISPR plasmid copy number. (B) The RFP-expressing targets used for all plasmid knockout experiments are homologous and span more than two orders of magnitude with respect to copy number (1-2 copies/genome for BAC up to >500 copies/genome for pUC19). All copy number variants constitutively express high levels of RFP, confer resistance to streptomycin (and spectinomycin), and possess a non-coding proto-spacer (X) coupled to an ATG PAM in addition to two StrRcoding proto-spacers, Y and Z, with ATG and AAG PAMs, respectively. Increasing target plasmid copy number with a pUC19-based colEl origin caused RFP-mediated toxicity when expressed from the strong promoter PJ23100 An attenuated promoter (PJ231*) in which the -10 element had been mutated from TACAGT to TACTAT was used instead. 84 PC PWa attB FRT FRT KaR (rev) araC int5 (fwd) pKD13-AttB AMR " Am E6K pint~ts R6K 7 psc101V Supplementary Figure A.3: Strain construction plasmid maps. pKD13-attB encodes a modified Kan' knockout cassette coupled to an Int5 attB site. Upon amplification with appropriate primers ("fwd" and "rev") encoding 5'and 3'- homology (light and dark blue overhangs, respectively) to a target site within the host genome, the resulting linear DNA can be transformed into a XRED-expressing host to both knockout the targeted region and knock in a chromosomal attB site. plnt5ts confers arabinose-inducible expression of The pInt5t, plasmid possesses a the Int5 site-specific recombinase. temperature-sensitive pSC101 origin of replication that allows the plasmids to be cured from the host via growth at 37*C following successful recombination. 85 PBAD PC P23117 MWbo araC araC pGFP-C pGFP-B R6K attP POAD RiboJ R6K attP FRT FRT KanR KanR Supplementary Fixure A.4: Fluorescence measurement plasmid maps. Fluorescence measurement plasmids pGFP-B and pGFP-C are isogenic with actuator plasmids pACT-B and pACT-C (Figure A.1), except that a RiboJ-B0034GFP reporter cassette was substituted for the actuator cas operon. The were integrated instead their corresponding pACT counterparts at the same three chromosomal locations to create the 3x GFP reporter strain (Methods). 86 PCR Cassette (amplified from pKD13-attB) qKan R FRT FRT ,4- (!R.ED- CRISPR cas genes ~ .4.......IL. [arabinose] Integration locus (e.g. native cas/CRISPR) Deletion of host genes FRT FRT FRT 4 Removal of marker (via pCP20/FLP) 4 Addition of pIntS1 , and pACT-01 PJ 23117cas E PRM PI PBAD genes D C B cl A pACT-A pCP20 R6KFRT Ri AM R KanR CMR pSC101ts FRT Actuator integration Phage clean-up (via Pivir transduction) PBAD pACT-A-derived actuator Supplementary Figure A.5: Schematic of FLIP-mediated actuator genomic integration methodology. A FRTflanked KanR knockout cassette is amplified from pKD13 using primers containing 5'- and 3'-homology (light and dark blue segments, respectively) to regions of the MG1655 chromosome targeted for actuator insertion (See Table A.3 for primer sequences). The knockout cassette is integrated into an MG1655 donor strain via ?RED 1 recombinase9 , thereby simultaneously deleting a segment of the host chromosome. (See Table A.2 for deleted segments) The KanR marker is removed via FLP recombinase (pCP20) , and the marker-free strain is retransformed with pCP20. FLP is expressed, and cells are transformed with integrating actuator plasmid pACT-A. FLP-mediated recombination between the plasmid-borne FRT site and the chromosomal FRT site then creates a chromosomally-integrated actuator sequence within the donor strain. The integrated actuator locus is then moved from the donor strain to the final recipient host strain via Plvir phage transduction. The Kan Rmarker and R6K origin cannot be removed from the recipient host. Integration leaves the FRT sequences unaltered, and so repeated plasmid integrations resulting in a heat-to-tail array of actuator sequences. It is therefore possible to achieve clones with actuator copy numbers greater than one from a single transformation. 87 PCR Cassette (amplified from pKD13-attB) attB FRT FRT - cas genes ,Y .D E~j ~~ ** (-[arabinose] CRISPR ~.. ........ Integration locus (e.g. native cas/CRISPR) Deletion of host genes FRT attB FRT Removal of marker (via pCP20/FLP) attB FRT I 'PBAD PC Addition of pInt 5t and pACT-01 *pwP jarabinose]+ aabns] cas genes p p +1oE a intS FRT R ac pint5t pACT-C Am R KanR pSC101ts attB FRT Actuator integration PC PRAD Phage clean-up (via Pivir transduction) Removal of marker and R6K ori (via pCP20/FLP) PC P8AD pACT-C-derived actuator Supplementary Figure A.6: Schematic of IntS-mediated actuator genomic integration methodology. A Kan knockout cassette containing to the Int5 attB site is amplified from pKD13-attB using primers containing 5'- and 3'-homology (light and dark blue segments, respectively) is integrated regions of the MG1655 chromosome targeted for actuator insertion (See Table A.3 for primer sequences). The attB cassette A.2 for Table (See chromosome. host the of segment a deleting simultaneously , thereby into an MG1655 donor strain via XRED recombinase with pInt5 . Int5 deleted segments) The Kan marker is removed via FLP recombinase (pCP20) 1, and the marker-free strain is transformed Int5-mediated shown). as pACT-C (i.e. plasmid actuator integrating an with transformed and expression is induced with arabinose actuator recombination between the plasmid-borne attP site and the chromosomal attB site then creates a chromosomally-integrated recipient host strain via final the to strain donor the from moved then is locus actuator integrated The strain. donor the within sequence 9 host via FLP P1, phage transduction. The Kan marker, R6K origin, and IntS attR site are subsequently removed from the recipient was procedure analogous an recombinase (pCP20) to yield the final 1x actuator strain. For host strains containing the 3x genomic actuator, actuator. the as iterated two additional times using pACT-B 88 A Input 1 [arabinosel -4 PC PaAO col, oC-aroBAD locus 7RNAP tet E.cE. Input 2 -f I I [IPTG1 ® -# -- ______ -- PT 7/LacO - P,/LacO P,/LaCO CRISPR C D E A 8, genes z Plac LPaipWUR397 RSF Kan Jac[ Leader 4 +cos pWUR400 CDF lacl Str pWUR47xI C 1: p15a CmlacI Jr B Input 1 (IPTG- Cas3 CasABCDE I I crRNA guides AIk I - P 23119/LacO -- -1 P23119/LacO cas genes P 23 9/LaCOCRISPR Leader SpWUR397* r* ,I pWUR400* pWUR47x* acd PWaci p15a CDF RSF Str CMR lacl Supplementary Figure A.7: Schematic of three-plasmid, two-input cas/CRISPR over-expression system (Brouns et al, 2008) (A) Upon addition of both inputs (arabinose and IPTG), T7 RNAP is expressed from its chromosomal cassette and the hybrid PT/LacO promoters are de-repressed. T7 RNAP then initiates transcription from its cognate promoters present on all three pWUR plasmids, resulting in expression of all three cas/CRISPR components essential to DNAi activity. The pWUR397 expresses Cas3, pWUR400 expresses CasABCDE ('Cascade'), and a pWUR47x variant expresses the pre-crRNA, which is processed by CasE and then used to target DNAi activity. The pWUR47x family of plasmids also possesses a strong RBS and the native K-type E. coli CRISPR leader sequence immediately upstream of the first CRISPR repeat. This RBS was found to cause growth defects within its host, and the leader was found to be non-essential. Both were ultimately removed from later-generation CRISPR plasmids. (B) Schematic of the simplified pWUR* overexpression system. All pWUR* plasmids are isogenic with their parent pWUR counterparts, except that their respective PT/LacO hybrid promoters have been replaced with P1 23 1 /LacO hybrid promoters. In the absence of the LacO operator, the wild-type PJ 23119 promoter is a strong constitutive promoter. The net result of these substitutions is that expression of all cas/CRISPR components are now independent of T7 RNAP. The need for arabinose induction of PBAD-T7 RNAP is therefore removed, and the two-input system in (A) is reduced to a single input (IPTG). 89 B A 101 104 100 101 102 , ,- 2 10 0 10010 0) 0) 0 010o-6 ie TiePs-Atvto)(r 4 20- 0 otAtvain(r C:D2 10'10 10-1 Time Post-Activation (hr) Time Post-Activation (hr) Supplementary Figure A.8: Characterization of PBAD Input. (A) PBAD input promoter expression levels over time for the 3x GFP reporter strain (green squares, left-hand axis in a.u., Methods) are shown for cells grown under standard DNAi induction conditions (2YT, 2mM Ara). The data from Figure 4.1 depicting the kinetics of pTAR(S) plasmid knockout using the 3xc DNAi strain containing pCR-YZ (blue triangles, right-hand axis in fraction target+ cells) are overlaid for reference. Cultures of the 3x GFP strain containing pTAR(S) and pCR-YZ were prepared, induced, cultured, and sampled in a manner identical to that used in Figure 4.1 (Methods). Cytometric analysis of GFP fluorescence was also performed similarly, except that populations were gated based on forward and side scatter and then based on RFP expression from pTAR(S) (1000 RFP au cut-off) to ensure that only viable cells were counted. The vertical dashed line at t = 2.25 hr indicates the maximal lag time for PBAD-mediated synthesis of the GFP reporter. This lag correlates exceptionally well with the observed lag in the induction of DNAi- mediated plasmid knockout. (B) PBAD input promoter expression levels over time for the 3x GFP strain (green squares, left-hand axis) and the kinetics of pTAR(S) plasmid knockout for the 3xc DNAi strain (blue triangles, righthand axis) are shown for cells grown under leakage conditions (2YT, OmM Ara, 0% Glc). Again, both strains contained the pTAR(S) & pCR-YZ target/CRISPR plasmid pair. With the exception of the inducer concentrations, 1 experiments were performed identically to those depicted in (A). The horizontal dashed line at 5x10 a.u. reflects the estimated minimum expression threshold for DNAi activity, defined as the expression level required to observe a fraction of target-positive cells <95% in the corresponding plasmid knockout experiment, and is approximately "3-fold higher than the expression level of PBAD in the glucose-repressed state (corresponding to t = 0 hr, Methods). All measurements were background-corrected by subtracting the auto-fluorescence of a triple-knockout E. coli MG1655 parent strain (No DNAi, Methods) containing target and CRISPR plasmids pTAR(S) and pCR-YZ that was grown under identical conditions. Data points depicted as hollow green squares include measurements whose value was at or below the detection limit for the instrumentation used, and were therefore rounded up to the minimum measurable value (0.1 a.u.). All data represent the average of three independent experiments performed on different days, and error bars indicate the standard deviation. 90 Pla PaL" ,AM:_5'-NNN PJ23100 PAM: wt pPAM-TC i pPAM-NNNr StrR pSC101 M13 ori L pSC101 *NN pPAM-NNN-RFP Y Z Y Z Y Z TTLIx 5 StrR StrR M13 ori pSC101 M13 ori Supplementary Figure A.9: Maps of target plasmids used in PAM experiments. All PAM targets possess a pSC101 origin of replication. The additional M13 origin of replication allows these plasmids to be packaged as ssDNA into a viral capsid when the host co-expresses the full compliment of M13 viral proteins. The resulting plasmid-containing phagemid virion particles are capable of directly transducing F+ E. coli strains. 91 0 .2 8 6 4 2 Time Post-Activation (hr) 2 0 8 6 100 4 2 0 101. 100 10-. 10' 10-1 10-'. 10-2 10-2 10-' 10-' 10*4 10-4. 10-s 10-' 0 t 2 6 2 8 100 10-' 10-1] 10-' 10-2 101 10-3 10-' 10-3 10-' 10-s 10-4 10-5 10- 10-5. 10-' AGG 2 4 6 4 4 6 8 0 10-k Time Post-Activation (hr) 2 0 8 6 100 4 6 0 8 10-1 10-2 10,3 10'. 10. 10'. 10-4 10-4. 10-4. 10-5. 100 0 100) 10- 10-' 10-' 10-. 10-2 10-1 10-2 102 10-' 10'1 10-' 10a'. 10-4 10-4 10-4. 10-d 10-5. TAG 2 TTG TGG 8 2 4 6 8 TAA GTG Time Post-Activation (hr) 2 0 8 6 4 100 0 6 1 001 10-2. 8 4 cAG 102 6 2 10-' 10. 4 8 10-s 10- 2 6 10-2 10-'. 10-'. 0 100, 4 AAT 10-1 GGG 2 10-' AAG 100. 10-' 8 10-4. 100 GAG 6 10-3. ATG 2 4 10-2. ATA ) 8 2 100 icy'. Time Post-Activation (hr) 2 0 8 6 4 100 10-5 . 4 AAC 100 0 0 10-i 10-1 AAA 8 6 4 4 6 8 10-. CcG Supplementary Figure A.10: The dynamics of plasmid loss for each active PAM sequence. The overlay from Figure 3.12 is separated into individual plots for increased visual clarity. PAM sequences are indicated in the lower left of each graph, and colors correspond canoncial, strong, weak, and negative control PAMs as in Figure 3.11. Data are for the 1xc DNAi device, X spacer targeting plasmid (pCR-X, CmR), and a pSC101 target (pPAMNNN-RFP, RFP+, StrR) and reflect the fraction of cells containing the target plasmid as determined by PAM kinetic assay (Methods). All data reflect the average of three independent experiments performed on different days, and error bars indicate the standard deviation. 92 A.2 Supplementary Tables Table A.1: CRISPR element sequences Element PAM Target Spacer G 1 CACCCGACGCCATTCTATACCTGATAATTCTT AAG N.C.a (genome) Spacer G2 TTGTCAACGCTCCCAGGCCGTCCACTCCCTGA AAG attLb Spacer Ni TGGTCTTCAGCCTTCTAGAGATATGAAGACTT n/a none Spacer N2AI CTTTCGCAGACGCGCGGCGATACGCTCACGCA n/a none Spacer GACTCACCCCGAAAGAGATTGCCAGCCAGCTT n/a none Spacer AX ACTGTTCGGGAGCTTTGTTCAGCAGCGATAAC ATG bIaAX (plasmid) Spacer X ACAGTAAGAGAATTATGCAGTGCTGCCATAAC ATG N.C.a or bla (plasmid) d Spacer Y ACATTCTTGCAGGTATCTTCGAGCCAGCCACG ATG StrR Spacer Z CCACACAGTGATATTGATTTGCTGGTTACGGT AAG StrR Repeat GAGTTCCCCGCGCCAGCGGGGATAAACCG N 2 .c - - Sequence a. N.C = Non-coding sequence b. Att sites correspond to IntS recombinase used for actuator chromosomal integration c. Spacers designated N2A and N 2. in this work correspond to spacers with designations N, and N, from pWUR477 from Brouns et al. Science, 2008. d. Spacer X targets a non-coding region in target plasmid pTAR(S) and the wild-type bla (Amp") allele in target plasmid pAmpTAR(S)-X 93 Table A.2: Host chromosomal modifications Locus A(CRISPR-cas) A(araC-araBAD) ALaci Native Sequence Deleteda Actuatorb (1x strainc) Actuatorb-c (2x strain) Actuatorb (3x strainc) 2,879,926 - 2,889,743 pACT-A, -B, or -C pACT-B pACT-B 65,854 - 71,265 none pACT-B pACT-B 366,428 - 367,586 none none pACT-B or -C a. Numbering based on NCBI entryfor E. coli str. K-12 substr. MG1655 (NC_000913.3) b. All actuators are oriented with respect to the chromosomal (-) -strand c. For a given actuator copy number, different actuator variants are delineated by a subscript indicative of the pACT version integrated at their variable position. For example, the 3x strain harboring 2x pACT-B plus Ix pACT-C is designated 3 xc 94 Table A.3: Genomic modification primers Primer0 Sequenceb A(CRISPR-cas3)-fwd 5'- TATCAGGTATAGAATGGCGTCGGGTGCTTGAGGCTGTCTGgtgtaggctggagctgcttc A(CRISPR-cas3)-rev 5'- A(araC-araBAD)-fwd 5'- GCTACTCCGTCAAGCCGTCAATTGTCTGATTCGTTACCAAgtgtaggctggagctgcttc A(araC-araBAD)-rev 5' - AGCCTGGTTTCGTTTGATTGGCTGTGGTTTTATACAGTCAattccggggatccgtcgacc ALacI-fwd 5'-- TCTGGTGGCCGGAAGGCGAAGCGGCATGCATTTACGTTGAgtgtaggctggagctgcttc ALacd-rev 5' - TGCCTAATGAGTGAGCTAACTCACATTAATTGCGTTGCGCattccggggatccgtcgacc AATGCTACCTCTGGTGAAGGAGTTGGCGAAGGCGTCTTGAattccggggatccgtcgacc a. Forward and reverse designations are given with respect to actuator orientation following integration b. Underlined sequence corresponds to homology (40 bp) with host chromosome. Lower case sequence corresponds to priming regions present within pKD13-AttB plasmid for amplifying the knockout cassette 95 Table A.4: Int5-specific recombination sites Site Sequence0 attB GAGCGCCGGATCAGGGAGTGGACGGCCTGGGAGCGCTACACGCTGTGGCTGCGGTCGGTGC attP CCCTAATACGCAAGTCGATAACTCTCCTGGGAGCGTTGACAACTTGCGCACCCTGATCTG attL GAGCGCCGGATCAGGGAGTGGACGGCCTGGGAGCGTTGACAACTTGCGCACCCTGATCTG attR CCCTAATACGCAAGTCGATAACTCTCCTGGGAGCGCTACACGCTGTGGCTGCGGTCGGTGC a. All sequences given in the forward orientation. Underlined bases corresponds to recombination point. 96 Table A.5: qPCR primer sets Set Dist. to Gil Reverse primer Forward primer Amplicon length Mol. Wt. (ng/mol) A 0 CGAGCAGCATTCCTGATTTTA CTCGAGGAAGCAGCTCCA 110 bp B 1 GGCGTCGCTTGATGAACTGATA CCGCACGCACCGTAAAGT 83 bp 5.11X10 C 10 GCGCATTTTGATTGGCATT CCCAGCAAAATACCGCGAT 99 bp 6.11x10' D 100 GCAATTTTTCCCGGCAAAATTACAA CATGTTAAGAACCTCCCTATCCGTATATAA 100 bp 6.16x101 E 1000 GGTTGATCCAAGCTTCCTGACA AAGAATGGCTGGGATCGTGGGTT 94 bp 5.80x1013 Stra - AAAACAAAGTTAAACATCATGAGGGAA GATGACGCCAACTACCTCTGATA 78 bp 4.81X1013 6.80X1013 a. Center-to-center distances (in kbp) between the corresponding qPCR amplicon and the protospacer G, sequence (NCBI position 2,887,466) as measured along the host chromosome in the (+)-strand direction. 97 13 3 3 Table A.6: Constitutive promoter sequences Promoter TTGACGGCTAGCTCAGTCCTAGGTACAGTGCTAGc PJ231OO P Sequence0 b23100- TTGACGgctagctcagtcctaggTACTATGCTAGc PJ23101 TTTACAgctagctcagtcctaggATAATAGCTAGc P123105 TTTACGgctagctcagtcctaggTACTATGCTAGc PJ23117 TTGACAgctagctcagtcctaggGATTGTGCTAGc a. Italicized and underlined sequences correspond to promoter -35 and -10 elements, respectively. Lowercase base corresponds to the promoter -1 position. b. Mutations in -10 element relative to P23m are given in bold 98 Table A.7: RBS sequences RBS Sequence0 Plasmid ORF pACT-01/02 cas3 pACT-01/02 casA pACT-Olb araC pACT-02d araC pTAR RFP pINT5t5 lnt5 ATACCCGTTTTTTTGGGCTAGCAGGGACAGGATATGTGAGTAAACGTCGTTATCTTACCGGTAAAGAAGT p1NT5tsb araC GTTTTTGTCATGGCTTTGGTCCCGCTTTGTTACAGAATGCTTT.. pGFP-01/02c-d GFP pJ23101-GFPe GFP a. b. c. d. e. ATACCCGTTTTTTTGGGCTAGCAATAAGGAGATATACCAT GCACTCGAGTGTAGAAATAATTTTGTTTAACTTTAATAAGGAGATATACCAT GTTTTTGTCATGGCTTTGGTCCCGCTTTGTTACAGAATGCTTT... TTCTTCTCTGAATGGCGGGAGTATGAAAAGTAIG TACTAGAGAAAGAGGAGAAATACTAGATM TTTCCCCCGGAAACCAATAAAAGAAGGCCATCGTCAIQ TCAGGCCA TTCTTCTCTGAATGGCGGGAGTATGAAAAGTATI CCTGTcACCGGATGTGCTTTCCGGTCTGATGAGTCCGTGAGGACGAAACACCTCTACAAATAATTTTGTTTAAAAAGAGGAGAAATACTAG&Tr TTACTAGAGTCACACAGGAAAGTACTA&MI RBS defined as the entire 5' UTR spanning the transcriptional +1 site (bold) through the start codon (underlined) Native araC RBS sequence corresponding to E. coli str. K-12 substr. MG1655 (NC_000913.3 positions 70225-70389) RBS includes RiboJ self-cleaving ribozyme. RNA auto-cleavage occurs 3' to the lowercase cytosine. BBa_0034 RBS sequence is in italics BBa_0032 RBS sequence is in italics 99 Table A.8: Classification of DNAi survivor LOF mutations via genetic complementation Original pCisTAR(S) pCisTAR(S)-X pCisTAR(S)-Y pCisTAR(S)-Z pCisTAR(S)-Y+Z DNAi activity observed +pACT-03/pCR? (Yes/No) +pACT-03 +pCR-N +pCR-X +pCR-Y +pCR-Z Yes Yes Yes Yes Yes Yes No No No No No No Yes Yes Yes No No No Yes Yes No No No No No Yes Yes Yes Yes Yes Yes No No No No No No Yes Yes Yes No No Yes No Yes No No No No No Yes Yes Yes Yes Yes Yes No No No No Yes Yes Yes No No No No Yes Yes No No No No No No Yes Yes Yes Yes Yes Yes No No No No Yes Yes Yes No No No No Yes No No No No No No No LOF assignment No LOF Actuator CRISPR Target Multiple mutations No LOF Actuator CRISPR Target Multiple mutations No LOF Actuator CRISPR Target Multiple mutations No LOF Actuator CRISPR Targets (both) Multiple mutations a. While the chart does not cover all 32 Yes/No combinations for each pCisTAR(S) variant, none of the 27 other ambiguous cases were observed 100 Bibliography 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. 12. 13. 14. 15. 16. 17. 18. 19. 20. 21. 22. Arkin, A. Setting the standard in synthetic biology. Nat. Biotechnol. 26, 771-774 (2008). Molin, S. et al. 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