GENETICS Why are we who we are? Where does your physical appearance come from? Build a cell Use the loose materials at the side bench to create a cell Include all structures you know about. Label all structures. You may work with groups up to 3 people. Remember all the materials you use will have to be put away at the end or you’ll make this girl cry. Why is genetics important? Jellyfish Genetically modified cat with genes from Jellyfish Microtubules (a protein) with genes from Jellyfish Genetics What is Genetics? The study of genetic transfer So what are Genes exactly? Genes are very small pieces of DNA Why is studying them important? Human genome Fun DNA facts! DNA from one cell is about 2 meters long DNA from one adult can stretch to the moon and back 6,000 times There are 20-25 000 genes Only 1.5% of DNA is genes You and I are 99-99.9% identical at the DNA level Typing 60 words per minute for 8 hours a day you could write the human genome in 50 years! Why is genetics important? Allows us to study: Some hereditary diseases (Huntington’s disease) Cancers Pathogens (bacteria and viruses) Crime scenes! Allows us to create: Large quantities of organic molecules (Insulin for ex.) Vaccines Antibiotics Genetically modified organisms (GMO) Plants, bacteria, animals Also useful for traditional breeding processes Really cool stuff! https://www.youtube.com/watch?v=1c-agCXZ2EU Jellyfish https://www.youtube.com/watch?v=0WN_YQUiWtU Glow in the dark fish Why bother doing this? http://www.slate.com/articles/video/video/2013/12/glow_in_the_dark_pig _video_chinese_scientists_use_jellyfish_dna_to_create.html https://www.youtube.com/watch?v=OSx_x5FkY2w Cool animals! Human genome Why do we have two copies of each gene ? Where does each copy come from? Think-Pair-Share How do we know about genes? This guy! Gregor Mendel The father of genetics Grew and cross-bred pea plants Very carefully recorded all of his observations You are a pea plant! Pea plant activity Do not open your cue cards until asked to! Step 1: Obtain two cue cards from Mr. Mitchell I will divide the room into two groups One group will be tall pea plants Stand beside your desk One group will be short pea plants Sit down at your desk Step 2: Exchange cards: Students who are standing will exchange 1 of their cards with someone who is sitting If you are sitting you may only make one exchange At the end of step 2 you should have one original card and one new card. Step 3: What kind of pea plant do you think you are? Size of pea plant Tall Medium Short What is going on? Number of pea plants Step 4: Turns out you are all tall pea plants Everyone should be standing now because you are all tall Exchange at random one of your cards with someone else ONLY MAKE ONE EXCHANGE! Step 5: What kind of pea plant are you now? Size of pea plant Letters on your cards TT Tt tt Number of plants Dominant and Recessive Genes Why was everyone a tall pea plant after the first round of exchanges? Some genes are dominant, they will be displayed no matter what if present Some genes are recessive, they will only show up if there are two copies of them present Phenotype: Observable characteristics Genotype: Genetic makeup A dominant gene will always be observed in the phenotype A recessive gene will only be observed when the genotype has two recessive genes Gregor Mendel Concluded there were invisible “factors” which influenced the traits of offspring These factors were later called genes. Created several laws of inheritence First Law of Inheritance Law of segregation: Individuals all have a pair of alleles which separate during cell division Offspring receive only one allele from each parent Allele – a single variant form of a gene (in this case you either started with the two alleles tall tall, or short short, you had two alleles they just happened to both be the same). Second Law of Inheritance Law of independent assortment Genes for separate traits are passed down independent of genes for other traits. If I were to add a second trait to our activity you would have needed separate cue cards to hand one of each type randomly to someone else. The second law is only partially true Remember we have 20-25 000 genes but only 23 pairs of chromosomes, they can’t all be independent! Plant and animal breeding Historically plants and animals have been bred to gain desired traits Examples: (write one down) Horses which are larger and have better endurance Plants which grow more or different varieties of produce Plants which will both grow well in harsh conditions and are good producers Darwin used these facts in his book The Origin of Species in his argument for evolution. Darwin In the origin of species wrote: “Slow though the process of selection may be, if feeble man can do much by his powers of artificial selection, I can see no limit to the amount of change, to the beauty and infinite complexity of the co-adaptations between all organic beings, one with another and with their physical conditions of life, which may be effected in the long course of time by nature's power of selection.” How have pugs changed over time https://www.youtube.com/watch?v=Wz0mJW_LKsU Modern techniques GMO’s What are GMO’s? https://www.youtube.com/watch?v=EzEr23XJwFY Genetically Modified Organisms (GMO) GMO: An organism which has had its genome has been altered through genetic engineering Example: Glow in the dark fish Genome: The total genetic make-up of an organism or cell Desired traits in one species are inserted into the DNA of another species Or genes are deleted Or genes over-produce compared to their “natural” counterparts Take some notes: Historically plants and animals have been bred to gain desired traits Examples: (write one down or use another one I talked about) Horses which are larger and have better endurance Plants which grow more or different varieties of produce Plants which will both grow well in harsh conditions and are good producers Modern techniques allow for creation of genetically modified organisms which is used to make Inuslin Vocabulary Genetically Modified Organism (GMO): An organism which has had its genome has been altered through genetic engineering Example: Glow in the dark fish Genome: The total genetic make-up of an organism or cell Insulin Promotes uptake of glucose (sugar) from our blood to tissues Produced naturally in our bodies in the pancreas Some people do not produce enough Some peoples bodies stop responding properly to insulin This is called Diabetes So what do people with diabetes do? Inject insulin to prevent high blood-sugar Where does the insulin come from? It used to come from: Where does the insulin come from? About 2 tons of pig parts to produce 8 ounces of pure insulin Allergic reactions occurred Now Insulin is produced by bacteria All thanks to knowledge about genetics Cheaper to produce No chance of allergic reactions GMO crops There are lots of commercially available crop varieties: Corn Soybean Golden Rice Genes for Vitamin A have been added 250 000 to 500 000 vitamin A-deficient children become blind every year, half of them dying within 12 months of losing their sight. (World Health Organization). Pope Francis has given his blessing to the project (go Pope Francis!) However…….. https://www.youtube.com/watch?v=zuc4Kf8E3SA More notes! Insulin: Used to be made by cows Allergic reactions occurred Took a lot of resources to produce Now genetically modified bacteria produce it. No chance of allergic reactions Lots can be made quite easily GMO crops are very common GMO assignment Assignment #1: What are GMO’s? RE9.1 Examine the process of and influences on the transfer of genetic information and the impact of that understanding on society past and present. For this assignment you may work with groups of up to 3 people, or you may work alone. Your goal is to create a poster, presentation, report, video, website or any other form of representation you feel is appropriate. Within this format you will be responsible for: Outlining what a GMO is Pick one GMO crop I have listed on your assignment sheet Explain what has been modified in that crop Detail potential benefits as well as potential drawbacks of that crop State your own opinion(s) on the production of this crop and other GMO crops You will have one class period to conduct your research, the final product is due on Tuesday September 21st. Recall Dominant and Recessive genes There are lots of easily observed phenotypes in humans which display dominant or recessive traits. Dominant and Recessive genes in us Phenotypes we can observe: Trait Eye colour Earlobe Freckles Dimples Chin Cleft Hitchhikers Thumb Widow's peak Brown Detached Present Present Present Absent Present Blue Attached Absent Absent Absent Present Absent Dominant and Recessive genes in us Attached Detached Widow’s peak No widow’s peak Representing genes We use a single letter to represent specific genes. Dominant genes get an upper case letter Recessive genes get a lower case of the same letter For instance for the tall pea plant we used T, the other allele t is for short. If something (or someone) is phenotypically recessive they are two lower case letters. (tt) If something (or someone) is phenotypically dominant they are either a mix of upper and lower case or both upper case. (TT or Tt) Dominant and Recessive genes in us Fill in your charts possible Genotypes (for example I have freckles so I could be FF or Ff) Trait Eye colour Earlobe Freckles Dimples Chin Cleft Hitchhikers Thumb Widow's peak Brown (B) Blue (b) Detached (E) Attached (e) Present (F) Absent (f) Present (D) Absent (d) Present (C) Absent (c) Absent (H) Present (h) Present (W) Absent (w) Class data: Trait Phenotypes Eye colour Brown (B) Blue (b) Earlobe Detached (E) Attached (e) Freckles Present (F) Absent (f) Dimples Present (D) Absent (d) Chin Cleft Present (C) Absent (c) Hitchhikers Thumb Absent (H) Present (h) Widow's peak Present (W) Absent (w) Genotypes Bb or BB bb Ee or EE Ee Ff or FF ff Dd or DD dd Cc or CC cc HH or Hh hh Ww or WW ww Dominant and Recessive genes Sheep: Black coat is recessive White coat is dominant If we were to write this out: White coat would be either Ww or WW, black coat would be ww Extra notes. Genes are represented by a single letter Upper case letter is used for dominant allele, lower case is used for recessive allele Ex. A dominant allele for hitchhikers thumb would be “H”, the recessive gene would be “h” In animals coat colour is an easily identified dominant/recessive trait. In plants, the colour of flower Allele – a single variant form of a gene Genetic disorders What happens when you receive the wrong number of chromosomes? Typically the fetus will self abort if there is an incorrect number of chromosomes In some cases the fetus is still viable Some examples: Down syndrome XXX syndrome Klinefelter syndrome Turner syndrome Trisomy 21 AKA Down Syndrome Screening of pregnant women can detect if the fetus is likely to have down syndrome In the US 65% of diagnosed fetuses with Down Syndrome are aborted In Europe 92% Tests have up to 5% false positives 5% of the time when the test says the child will have Down Sydrome the test is wrong! 48 Other errors XXY – Klinefelter syndrome May have cognitive developmental delays Not always diagnosed because of mild symptoms XXX – Triple X syndrome. May not present any symptoms Because in all human cells only 1 x chromosome is active. Turner Syndrome 1 in 2500 females affected Only 1 X chromosome present or part of a second one Average height of 4’7” infertility 49 Other genetic disorders Sickle cell anemia: Cells end up being a shape which can cause blocking of blood vessels Can be very painful Cells die prematurely Colour blindness: Affects males more than females (it is recessive on the X chromosome) 25 29 45 56 6 8 Write like the wind! Wrong number of chromosomes=miscarriage typically Extra X chromosome, or chromosome 21 can result in live births XXX syndrome, XXY Klinefelter syndrome Mild symptoms Turner syndrome (1 X chromosome) Infertility and short stature Trisomy 21 – Down syndrome Distinct physical features Short life expectancy and learning disabilities Keep writing Colour blindness Found on X chromosome Males more likely to be affected Sickle cell anemia Mis-shaped red blood cells can cause blockage of smaller blood vessels/veins Mutations! https://www.youtube.com/watch?v=ZCovtVdpuIs Mutation: Mutations are changes in the genetic code of an organism or cell which can be passed on to future generations of organisms or cells. Mutation activity: Find a partner (groups of 2 only please) Come up and grab sheet A and sheet B (one partner gets sheet A the other gets sheet B). Do not look at each others paper. Grab a paper towel, whiteboard and marker; test your marker. Await further instructions. Mutations activity part 2: Now that you have your whiteboards and each of you has one sheet of paper either A or B: Write down sentence 1 on your whiteboard. Erase one of the underlined words Pass your whiteboard to your partner. Fill in the blank with a word you think is appropriate Read your new sentences to each other. Repeat for sentence 2 but not for sentence 3. Sentence 3: Write down sentence 3 and erase one of the words like before. Now pick a word from your noun list and circle it. Exchange boards. Fill your new blank with the word you circled Read them back to each other. Mutations: This activity was meant to simulate mutations. Our cells are very good at repairing mutations. (sentences 1 and 2) Occasionally our cells have to guess how to fix mutations. (sentence 3) The Genetic Code There are 4 different molecules that make up all of our DNA. These 4 bases are represented by four letters A, C, G, and T. When DNA replicates (is copied) a mistake is made 1/100,000 times This totals about 120,000 mistakes every time DNA is copied in 1 cell. Luckily our cells are very good at repairs and very rarely does a mistake go unnoticed. Mistakes happen. Some errors do not get fixed and are passed down If multiple errors occur in a single cell line cancer cells can emerge. Our bodies fight cancer cells naturally Cells self destruct if they know there is an error If a cell has different DNA it may produce different products which our body can recognize as foreign. Gene therapy Some virus’ can insert their DNA into our chromosomes This is partially why we see other species genes in our own DNA In gene therapy viral particles have their DNA replaced with new DNA This is then inserted into our cells and into our chromosomes. Notes: DNA and mutations DNA is represented by a 4 letter code A, T, G, C DNA replication results in errors which mostly get fixed When errors do not get fixed it can result in cancer Only if there are several errors within a single cell line These errors can build up over time Cells with errors self destruct Our immune system also attacks cells with errors. Gene therapy – correct DNA is inserted into cells using viral particles Can cause immune reactions. What have we learned so far? We have been discussing how genes are transferred Grab a whiteboard and make a group of 3-4 people Brainstorm what you have learned about genetic transfer over the last week. Write down what you think are the most important things you have learned Mitosis Overview Interphase occurs before Mitosis begins: Interphase G1 Cell growth DNA is not replicated yet Interphase S Synthesis of DNA Interphase G2 (just after S phase) Cell growth continues Cells double in size through the course of interphase http://www.bioweb.uncc.edu/1110Lab/notes/notes1/lab6.htm Prophase Chromosomes condense Each chromosome is made up of two sister chromatids Centrosomes move to opposite ends of the cell Nuclear envelope breaks down http://www.bioweb.uncc.edu/1110Lab/notes/notes1/lab6.htm Metaphase Centrosomes attach to chromatids Chromatids line up along the centre of the cell http://www.bioweb.uncc.edu/1110Lab/notes/notes1/lab6.htm Anaphase Sister chromatids separate Chromatids move to opposite ends of the cell Telophase Nuclei re-form Chromosomes decondense Cytokinesis Begins in anaphase Organelles (ER, golgi apparatus, mitochondria) are divided between the two daughter cells. Cell membrane pinches in the middle resulting in two cells Cell cycle notes Interphase Cells double in size DNA replicates After chromosomes replicates it consists of two sister chromatids Centrosome replicates Prophase Chromatids condense Centrosomes move to opposite poles of the cell Nuclear envelope dissipates Mitotic spindle attaches to chromatids Metaphase Chromatids line up along the centre of the cell Centrosomes attach to chromatids Cell cycle notes Anaphase Sister chromatids separate and are pulled to opposite poles Telophase Nuclei form around chromatids, chromatids begin to decondense Cytokenesis Begins in anaphase by moving organelles (mitochondria, ER, golgi etc) to each pole Ends with pinching off of the cell membrane resulting in two cells Vocabulary: Mitotic spindle – fibres which help move chromatids to proper positions. Centrosome – connects to mitotic spindle to help pull chromatids to opposite poles Two options after mitosis Cells can re-enter the cell cycle The entire cycle takes around 48 hours, most of that is interphase Cells can go into a state called G0 (G-naught) G0 Cells no longer divide but are still active Some cells may exit this stage and divide Other cells will remain in this state forever Nerve cells for example typically do not divide as adults DNA damage and division Recall that DNA damage can result in mutations Most DNA damage is repaired Cells check their DNA in G1 to make sure there is no damaged DNA Cells check their DNA during interphase S for damage and errors while replicating Cells check their DNA again at G2 to make sure everything replicated properly in interphase S Finally cells check to make sure things are aligned during metaphase The cell cycle Using your microscope Use the lowest power (4x magnification). Lower the stage as far down as it will go Place your selected slide on the stage and secure in place Turn the light on and make sure the light is hitting a useful spot. Look through the eyepiece and move the stage up using the coarse adjustment knob until you have an image in focus Using your microscope Move to the 10x lens. Re-focus using the FINE ADJUSTMENT ONLY Once in focus move to the 40x lens Re-focus using FINE ADJUSTMENT ONLY Draw a cell which is undergoing mitosis, use the guidelines within the textbook. you can pick any stage of mitosis you like, be sure to label any structures you can see. Team-work/ team editing This slide is just here to remind me to talk about this! Exemplars of student news hand-ins 2/3 Exemplars of student news hand-ins 3/3 Cheating on checkpoints Sometimes mutations occur which allow cells to skip the checkpoints This can result in uncontrolled growth (replication of cells) Cells capable of becoming cancerous can result due to this. Cell cycle notes Cells re-enter cell cycle or enter G0 (G-naught) Cells no longer divide but are still active Some cells may exit this stage and divide Other cells will remain in this state forever Nerve cells for example typically do not divide as adults Recall that DNA damage can result in mutations Several checkpoints in the cell cycle to prevent this Ignoring these checkpoints because of mutations can result in cancer. Activity time! Step 1: Find a partner, take out your cell phone and take a picture of that partner Activity time! You have received two identical pieces of paper. Take a few minutes to draw a picture of yourself on one of the pieces of paper. Fold your papers in half Find a partner decide between you which will be on team 1 and which will be on team 2. Line up in the middle of the room in a straight line standing next to your partner. Activity time! Move to opposite sides of the room, one person towards the front of the room one person towards the back of the room. Unfold your paper then refold it Line up again in opposite orientation to the first time Exchange papers with someone else in your line. Move to opposite sides of the room again, one person towards the desk side, one person towards the computer/door side. You just completed one cycle of Meiosis Note that there is no exact copy of yourself in the other 3 cells. Activity time! Get your two pieces of paper out again. Find the person in the room who has the same letters on their paper as you, the letters will be the same but the capitalization will be different. Line up in a straight line in the middle of the room standing beside your partner. Tear your picture in half so that you now have one letter one each half of the picture Exchange half of your torn paper with your partner making sure you still have two different letters. Tape your torn papers together (each partner should have ½ of their own paper taped to ½ of their partners paper). Activity time! Exchange Pieces of paper with your partner Team 1 move towards the computer side of the room. Team 2 move towards the couch side of the room. Unfold your pieces of paper Congratulations you have just completed the Mitosis cell cycle! The pieces of paper you hold represent the genes you carry as a chromosome. Note that each ‘cell’ contains an copy of you. Get your piece of paper with your picture back and have a seat for a few minutes. Meiosis What is Meiosis used for: Meiosis is used to produce sex cells (egg and sperm in humans) These cells are used to produce offspring Meiosis Overview Meiosis- Interphase Replication of DNA Cells grow and prepare for Meiosis Prophase I Chromosomes condense Homologous chromosomes pair up Homologous chromosomes contain the same genes, one is from the father (paternal), one from the mother (maternal). We have 23 pairs of homologous chromosomes Crossing-over occurs Crossing over Some portions of the DNA from one homologous chromosome swap with DNA from the other homologous chromosome Crossing over gives greater genetic diversity Metaphase I Homologous chromosomes line up along the centre of the cell. Anaphase I Homologous chromosomes migrate to opposite poles of the cell Telophase I and Cytokenesis Nucleus reforms around chromosomes Cell splits into two At this point each half of the cell has only half the genetic material of the original cell They are haploid Cells may rest after this phase and de-condense their chromosomes Chromosome number Diploid (2n) = Full complement of chromosomes found in any somatic cell of an organism Haploid (n) = Half the number of chromosomes found in a diploid cell. Sex cells have a haploid number of chromosomes. Somatic cell – Any cell in the body except sex cells (sperm and eggs in humans) In Mitosis cells are diploid (2n) Human genome Not done yet! We now have two cells, these cells are haploid (n=23) Each of those cells has only half the genetic material of the parental cell They are called haploid Note that the chromosomes in each cell are a mix of maternal and paternal One cell DOES NOT get all the mothers DNA and vice versa Our two cells are going to divide again. The same steps are used as before except interphase. This series of steps is called Meiosis II Prophase II Nuclear envelopes start to break down Chromosomes re-condense Metaphase II Chromosomes line up along the middle of the cell In the opposite orientation from Meiosis I (Note that your diagram does not show this) Anaphase II Centrosomes pull individual chromatids to opposite sides of the cell Note that because of crossing over these two chromatids are not identical! Telophase II and Cytokenesis Nuclear envelope re-forms Chromosomes de-condense Cell membrane cleavage results in 4 cells none of which are identical These cells are sex cells (egg and sperm in humans) Extra notes. Genes are represented by a single letter Upper case letter is used for dominant allele, lower case is used for recessive allele Ex. A dominant allele for hitchhikers thumb would be “H”, the recessive gene would be “h” In animals coat colour is an easily identified dominant/recessive trait. In plants, the colour of flower Allele – a single variant form of a gene (b for blue eyes B for brown eyes) Binary Fission Organisms such as bacteria do not produce sexually They have no need of sex cells Bacteria also lack membrane bound organelles So no need to divide these between cells Division begins when the bacterial cells have enough nutrients This results in copying of DNA Once DNA is copied the cell simply separates the DNA to opposite sides of the cell and starts pinching the cell wall/membrane in the middle. Fun Facts with Mr. Fire Blanket! E. coli bacteria can divide every 20 minutes under ideal conditions If a single E. coli cell had unlimited resources and was left to divide uncontrolled for two days there would be: 48 hours * 3 divisions/hour = 144 divisions. Every division doubles the number of E. coli This would result in 2143 E. coli. That’s 1.11 x1043 E. coli cells. These would weigh 7.43x1030 grams The earth weighs 5.972x1027 grams (thanks google!) What do genes actually do? We know they determine how we look but how? I wonder if they know what protein is? What is protein? Think (silently) What is protein, where have you seen or heard about it and what do you know? Pair Talk with your neighbor about what you know. Share with the class Functions of protein Enzymes: Help perform chemical reactions in our body Amylase in our saliva starts breaking down carbohydrates DNA repair machinery is made up of enzymes Structural: Give structure and support inside and outside of our cells Mitotic spindle aparatus for ex. Hair (did you count the hairs on your head Throy?) Cellular processes: such as cell signaling (like cells talking to each other) Hormones Cell membrane is full of proteins Where does all this protein come from? Our cells make all the proteins we need Proteins are genetically based (Our genes determine what our proteins are) This is why our genes determine our hair colour, hair is mostly protein. Our immune system knows which proteins belong to us and which do not. Most cellular processes are carried out by proteins Causes of mutations UV light Shorter wavelength than visible light Recall the four letter code of DNA? (ATCG) UV light can change C’s to T’s UV light can also bind two T’s together Causes of mutations X-rays Shorter wavelength than UV Cause mutations much more readily Causes of mutations Carcinogens Chemicals which cause mutations and cancer Can have a variety of different effects which change the DNA bases Causes of mutations Smoking Smoking causes 80% of lung cancers Many toxic chemicals which can enter our bloodstream Arsenic (found in cigarettes) prevents DNA repair Causes of mutations Free radicals Molecules the body naturally makes Antioxidants found in fruits and veggies counteract these Eat Healthy! Causes of mutations Viruses Insert their DNA into ours causing mutations Human Papilloma Virus (HPV) for instance – cause warts Main cause of cervical cancer Gardasil vaccine for some forms of HPV Causes of mutations UV light X-rays Carcinogens Smoking (carcinogens) Free radicals Viruses Activity time I need two volunteers Don’t worry everyone else is also participating My volunteers are cells which are trying to replicate by mitosis Each time they want to replicate they must bring me a pink, green and yellow cue card. This allows them to recruit one of you to become a new cell Once you are recruited you can start to replicate as well! Once all the possible cells (students) are used up we’ll see who has the most cells. Effects of mutations If certain genes are mutated, the proteins they produce may not work properly Hormones which signal cellular growth Autoregulation: cells can now signal to themselves to grow DNA repair proteins working improperly Cell cycle checkpoint proteins Repression of cell surface proteins Helps evade immune system Prevention of apoptosis: Programmed cell death Effects of mutations All of the mutations discussed can cause uncontrolled cellular reproduction Usually more than one of these mutations is required to cause cancer