Chapter 21—Evolution at the Molecular Level Fill in the Blank 1. Charles Darwin published his theory of evolution in his book called __________________in 1859. Ans: The Origin of Species Difficulty: 1 2. One of the cornerstones of Darwin's theory of evolution known as the process of _____________, states that some variant traits confer on some individuals a greater chance of surviving and reproducing while other traits reduce fitness. Ans: natural selection Difficulty: 1 3. Darwin understood that inheritance was a factor in evolution but his understanding of this process was limited because he did not read Mendel's paper, entitled_______________________, which was published in 1866. Ans: Experiments on Plant Hybrids Difficulty: 2 4. The populations of T and B lymphocytes that circulate throughout vertebrate blood and tissues have the genetic ability to synthesize a great variety of ___________________________________, which are protein molecules that can recognize non-self antigens from self antigens. Ans: cell surface immune receptors Difficulty: 2 5. The HIV viral genome experiences rapid mutation and subsequent evolution due to the replicative infidelity of the enzyme ________________________________ which converts viral RNA into double stranded ________ in infected cells. Ans: reverse transcriptase, cDNA Difficulty: 2 6. The fatal consequences of untreated HIV infection result from the rapid accumulation of billions of mutant virus strains in an infected individual which subsequently out paces the ability of the hosts _________________________________ to control. Ans: immune system Difficulty: 2 Page 386 7. The three basic components of molecular evolution are ___________________________ to produce genetic variants, ____________________________ of a favored subset of variants and the ______________________________ of the favored variants in a population over many generations. Ans: diversification, selection, amplification Difficulty: 3 8. All living cells capable of reproduction utilize ________________ as the genetic material while non-living viruses can have _________________________ genomes. Ans: DNA, DNA or RNA Difficulty: 2 9. Some RNA molecules have been identified as being capable of carrying out enzymatic reactions involving intron removal and are known as __________________, a term denoted by the discoverers T. Cech et al. Ans: ribozymes Difficulty: 2 10. In a primordial world, a major disadvantage to having RNA serve as the repository of genetic information is the molecules susceptibility to _______________ and ____________________ hydrolysis. Ans: chemical, enzymatic Difficulty: 3 11. Mutations which are selectively neutral either survive or are eliminated from populations by the process of _____________________ which results primarily of chance events during reproduction. Ans: genetic drift Difficulty: 2 12. An advantageous allele becomes _________________________ when it becomes present in more than 99 percent of the sum total of the loci present in a population. Ans: fixed Difficulty: 2 13. Genome size in eukaryotes has increased primarily by the processes of ___________________ and ________________________ of DNA sequences as new DNA arises from pre-existing sequences. Ans: duplication, diversification Difficulty: 3 Page 387 14. Duplications of chromosomal DNA sequences can naturally arise via two mechanisms called ______________, a type of chromosomal aberration, and ___________________, which is a form of illegitimate recombination. Ans: transposition, unequal crossing over Difficulty: 3 15. The existence of pseudogenes that have string of polyadenylic acid residues at their 3' end is indicative of integration of a cDNA copy of an RNA transcript produced by the action of the enzyme ________________________________ which is encoded by ________________________ sequences present in the genome. Ans: reverse transcriptase, retroviral Difficulty: 3 16. Transposition is defined as the movement of a ___________________________ copy of a chromosomal DNA sequence to a location on another non homologous chromosome. Ans: duplicated Difficulty: 2 17. Normal meiotic crossing over occurs during the ______________________ stage of prophase I and is mediated by a cytological structure called the ________________________. Ans: pachytene, synaptonemal complex Difficulty: 3 18. In Drosophila, the normal non-Bar eye, Bar eye, and Ultrabar phenotypes result from ____________________ and the Bar eye phenotype results from _______ copies of the Bar eye locus. Ans: Unequal crossing over, two Difficulty: 4 19. Non functional copies of normally expressed genes called _________________________ arise via random genetic drift and accumulate mutations at a faster rate than functional coding or regulatory sequences. Ans: pseudogenes Difficulty: 2 20. A duplicated copy of an ancestral vertebrate beta globin gene gave rise to an oxygen storage protein called ___________________ which is normally expressed in _____________________ tissue and is functionally monomeric. Ans: myoglobin, muscle Difficulty: 3 Page 388 21. The two types of T-cell receptors, called ____________ and _____________, are encoded by three gene families and the generation of T-cell receptor diversity is similar to the process that generates antibody diversity except that ________________________________ does not occur. Ans: alpha/beta, gamma/delta, somatic hypermutation Difficulty: 3 22. The _______________ portion of the human beta T-cell receptor has been duplicated and translocated to chromosome 9 and contains __________ V gene segments and one functional _________________________ gene. Ans: 3', 7, transposition Difficulty: 3 Multiple Choice Select all that apply 23. Triple drug therapy to arrest HIV infection is designed to specifically inhibit: a. DNA polymerases b. reverse transcriptase c. proteases d. endonucleases e. peptidyl transferase Ans: b, c Difficulty: 2 24. A small subset of immune cells called ________________ can persist long past the initial immune response in humans. They arise during the T and B cell clonal expansion and proliferation in response to antigen stimulation. a. effector cells b. CD4 cells c. memory cells d. macrophages e. T-helper cells Ans: c Difficulty: 2 Page 389 25. The Burgess Shale, which contains the earliest representation of all the phyla in current existence, was deposited around ___________________ years ago. a. 1.4 million b. 2.3 billion c. 1 billion d. 700 million e. 4.2 billion Ans: d Difficulty: 2 26. It is believed that the mass extinction which led to the dinosaurs demise around 65 million years ago was the result of a large asteroid impact near present day: a. Iceland b. Hawaii c. Siberia d. Manitoba e. Yucatan Ans: e Difficulty: 1 27. In an ideal primordial RNA world, multi functional RNA molecules would be required to have which of the following properties? a. fold into three dimensional structures with enzymatic capabilities b. carry out selective self replication c. synthesize double stranded DNA d. phosphorylate proteins e. encode genetic information in a four letter digital alphabet Ans: a, b, e Difficulty: 3 28. The genomes of humans and chimpanzees are about 99 percent similar yet many evolutionary biologists believe that most of the apparent phenotypic differences between the two species involve a. several large chromosomal deletions b. changes in regulatory DNA sequences c. changes in DNA regulatory and developmental protein factors d. transposition e. minor chromosomal rearrangements Ans: b, c, e Difficulty: 4 Page 390 29. Silent (synonymous) nucleotide substitutions in codons involve the ___________ nucleotide position in the codon which is based on the ________________ hypothesis involving codon and anticodon base pairing during translation. a. 3'-third, Lyon b. 3'-third, wobble c. 5'-first, hydrogen bonding d. 5'-first, wobble e. second, Ohno Ans: b Difficulty: 3 30. Mutations which result in the replacement of a serine amino acid with a glycine residue, which are both hydrophobic amino acids, is considered a _________________________ amino acid substitution because the chance may have little effect on the normal function of a particular protein. a. synonymous b. conservative c. non-conservative d. favorable e. neutralized Ans: b Difficulty: 2 31. Nucleotide or amino acid substitutions that have no apparent effect on an organism's phenotype, function, or development are considered _______________________ mutations. a. neutral b. conservative c. advantageous d. non-coding e. reverse Ans: a Difficulty: 2 32. Human heterozygotes for sickle cell anemia are selectively more fit than the normal homozygotes and considerably more fit than individuals homozygous for the sickle cell allele. This enhanced fitness of the heterozygotes is known as: a. adaptive value b. reproductive fitness c. heterozygous advantage d. hybrid vigor e. genetic drift Ans: c Difficulty: 2 Page 391 33. The beta globin gene superfamily has three major components located on three separate chromosomes in humans, they are the beta globin gene family, the ______________________ gene family and the myoglobin gene. a. alpha globin b. Hba-ps4 c. gamma globin d. delta globin e. leghemoglobin Ans: a Difficulty: 2 34. In humans, the two functional adult alpha globin genes: a. encode 8 different types of alpha globin chains. b. encode proteins that form heterodimers in hemoglobin. c. each have three very long introns. d. encode identical polypeptide products. e. are conserved by concerted evolution. Ans: d, e Difficulty: 4 35. The Hba-ps3 and Hba-ps4 pseudogenes which are located on mouse chromosomes 15 and 17 respectively are unlinked from the three principle globin gene families and thus considered: a. orphons. b. transposable elements. c. retrotransposons. d. SINES. e. LINES. Ans: a Difficulty: 2 36. Hox proteins have in common the functional capacity to: a. transcribe target genes. b. reduce gene expression in developmental genes. c. function as DNA binding transcription factors. d. transpose as a group. e. function as epistatic regulators of 3' Hox genes. Ans: c, e Difficulty: 3 Page 392 37. The ancestral Hox gene family, which arose ________________ years ago, consisted of _______ related genes that encode protein products that regulate the expression of other genes. a. 100 million, 8 b. 1 billion, 5 c. 65 million, 6 d. 600 million, 5 e. 100,000, 8 Ans: d Difficulty: 3 38. LINE, SINE, and retroviral DNA sequences are considered by many evolutionary biologists to be: a. selfish DNA. b. selectively neutral. c. middle repetitive DNA sequences. d. unique sequence DNA. e. copied by the action of reverse transcriptase. Ans: a, c, e Difficulty: 2 39. SINE elements are evolutionarily related to: a. signal recognition particle scRNA sequences. b. tRNA sequences. c. snRNP RNA species. d. rRNA. e. mRNA. Ans: a, b Difficulty: 4 40. LINE and SINE sequences evolve by the processes of episodic amplification and: a. exon shuffling. b. RNA splicing. c. sequence degradation. d. concerted evolution. e. gene conversion. Ans: c Difficulty: 2 Page 393 41. Homologous LINE and SINE elements in close proximity on the same chromosome can increase the rate of: a. gene expression. b. mutation. c. unequal crossing over. d. deletions. e. duplications. Ans: c, e Difficulty: 3 42. Satellite DNA contains DNA sequence subsets that are useful for DNA fingerprinting because of the inherent high level of polymorphisms that occur in their loci and include which of the following components? a. microsatellite sequences b. minisatellite sequences c. telomeric satellite sequences d. centromeric satellite sequences e. all of the above Ans: e Difficulty: 3 43. The human ________________ sequence is a noncoding 171 bp motif present in tandem arrays in a 1 mb region of human centomeres. a. deltoid b. orphon c. alphoid d. microsatellite e. pseudogene Ans: c Difficulty: 2 44. Telemeric repeated DNA sequences contain a hexomeric repeating unit containing a _______________ sequence motif. a. TTAGGG b. GGGAAA c. TTTAGG d. TTTGGG e. TGATGC Ans: a Difficulty: 2 Page 394 45. A 100 residue amino acid sequence called the ______________________________ is common to all members of the immunoglobulin gene superfamily. a. variable domain b. constant domain c. immunoglobulin homology unit d. immunoglobulin binding site e. beta-2 microglobulin domain Ans: c Difficulty: 2 46. The unique tertiary structure of the immunoglobulin fold permits it to: a. resist proteolysis. b. display a great diversity of recognition sites. c. retains its three dimensional structure. d. form trimeric molecules with other immunoglobulin folds. e. none of the above. Ans: a, b, c Difficulty: 4 47. The immunoglobulin supergene family contains three different types of homology units called variable (V), ___________________, and homology (H). a. constant (C) b. joining (J) c. diversity (D) d. CD4 (C) e. CEA (C) Ans: a Difficulty: 2 48. The principle evolutionary mechanism that gave rise to the diverse immunoglobulin supergene family was: a. gene conversion. b. exon shuffling. c. genetic drift. d. concerted evolution. e. transposition. Ans: b Difficulty: 2 Page 395 49. The immunoglobulin gene families encode specific antigen receptor classes called: a. T cell receptors. b. antibodies. c. beta-2 microglobulin. d. MHC molecules. e. a, b, and d above. Ans: e Difficulty: 2 50. Members of the immunoglobulin gene superfamily which carry out functions different from vertebrate immune recognition include: a. beta-2 microglobulin. b. carcinoembryonic antigen. c. contactin. d. almagam. e. MAG. Ans: b, c, d, e Difficulty: 3 51. Class I MHC molecules which are composed of a _____________________ chain and a beta microglobulin chain, typically present __________________________ to T cytotoxic cells. a. light, pathogens b. heavy, peptide fragments c. light, native proteins d. heavy, T-cell receptors e. heavy, light chains Ans: b Difficulty: 3 52. An immune response has three basic components, it is highly specific, selects for increased adaptivity, and: a. has mutability. b. has memory. c. evolved rapidly by gene duplication. d. is maintained by concerted evolution. e. secretes antibody. Ans: b Difficulty: 2 Page 396 53. A diagram depicting evolutionary history of a gene is called a: a. node. b. branch diagram. c. phylogenetic tree. d. molecular clock. Ans: c Difficulty: 1 Matching Match the following terms with the best definition a. Kingdom b. Hardy-Weinberg equilibrium c. Burgess Shale d. eukarya e. Phylum f. alpha helix g. nucleus h. First cellular life i. RNA secondary structure j. A,U,C,G k. prokaryotes l. archaea m. intramembrane system n. punctuated equilibrium o. North Pole, Australia 54. RNA alphabet Ans: j Difficulty: 1 55. complimentary base pairing in single stranded RNA molecules Ans: i Difficulty: 3 56. 3.5 billion years ago Ans: h Difficulty: 1 57. living representatives of the earliest life forms Ans: l Difficulty: 2 Page 397 58. compact genomes Ans: k Difficulty: 2 59. originated about 1.4 billion years ago Ans: d Difficulty: 1 60. the most universal feature of eukaryotic cells Ans: m Difficulty: 4 61. fossil evidence of the “explosion” of metazoan life forms Ans: c Difficulty: 2 62. taxonomic level based on “body plan” Ans: e Difficulty: 3 63. short bursts of rapid evolution Ans: n Difficulty: 2 Match the following terms with the best definition a. C. Elegans b. class I MHC genes c. D. Melanogaster d. M. Perutz e. nodes f. Gene superfamily g. Multigene family h. Simple sequence repeats i. branches j. Alu sequences k. Tissue Plasminogen Activator l. fibronectin m. human beta globin gene cluster n. RRNA, tRNA, and histone genes o. L. Pauling 64. examined hemoglobin and cytochrome c protein sequences Ans: o Difficulty: 1 Page 398 65. in phylogenetic trees, taxonomic unit are designated as Ans: e Difficulty: 2 66. (n)2, (n)3, (n)4, (n)5, etc. Ans: h Difficulty: 3 67. the first metazoan species whose complete genome has been sequenced Ans: a Difficulty: 2 68. 3'-locus control region Ans: m Difficulty: 3 69. Kringle, Growth Factor, and Finger Ans: k Difficulty: 3 70. A set of linked genes descended by duplication and divergence Ans: g Difficulty: 2 71. Arose by gene conversion from 38 donor pseudogenes to a small set of functional genes Ans: b Difficulty: 4 72. Conserved by one way gene conversion events within a species but can differ in consensus sequence between different species Ans: n Difficulty: 3 73. Human globin genes Ans: f Difficulty: 2 True or False 74. Darwin was the first to propose that species could undergo evolution. Ans: False Difficulty: 2 Page 399 75. HIV genome has a high rate of mutation, about 1 in 50 nucleotides per replication. Ans: False Difficulty: 2 76. Ribozymes are RNA molecules that act as enzymes. Ans: True Difficulty: 1 77. Metazoans are multicellular animals. Ans: True Difficulty: 1 78. Punctuated equilibrium of evolution is the tendency of evolution to proceed through long periods of stasis followed by short explosive periods of change. Ans: True Difficulty: 1 79. Humans diverged from chimpanzees about 6 billion years ago. Ans: False Difficulty: 2 80. Based on DNA genotyping, Neanderthal man was determined not to be a direct ancestor of modern man. Ans: True Difficulty: 1 81. Species-specific differences in phenotype are most likely due to differences in gene expression rather than mutations within genes. Ans: True Difficulty: 1 82. Nonsynonymous mutations have no effect on the amino acid encoded. Ans: False Difficulty: 2 83. There is evidence that synonymous mutations can be deleterious or favorable based on availability of tRNA and their various synthetases. Ans: True Difficulty: 1 84. Most extremely rare mutations that have deleterious effects become fixed in a population. Ans: False Difficulty: 2 Page 400 85. Duplications increase genome size and occur through transposition and unequal crossing-over. Ans: True Difficulty: 1 86. Phylogenetic trees have nodes and branches; branches represent taxonomic units while nodes represent the relationship of these units. Ans: False Difficulty: 2 87. Gene conversion outcome of unequal crossing-over allows the transfer of information from one gene to another. Ans: True Difficulty: 1 88. Concerted evolution allows changes in single genetic elements to spread across a complete set of genes in a gene family. Ans: True Difficulty: 1 Short Answer 89. Affinity maturation in which the immune response adaptively increases the fit between antibody and antigen binding during B cell proliferation and differentiation is the result of what underlying mechanism and how does it occur? Ans: Somatic Hypermutation is responsible for causing 10 - 15 mutations in V region immunoglobulin DNA sequences during the immune response in B-cells. Mutations that increase the binding affinity of antibody to antigen will be selectively amplified for clonal expansion. Difficulty: 4 90. What are the five primary processes that account for the “generation of antibody diversity?” Ans: Germline diversity, Combinatorial joining, junctional diversity, somatic hypermutation, and the joining of light and heavy immunoglobulin chains. Difficulty: 3 91. What was the key evolutionary event in the evolution of the T-cell receptor gene family and how might it have occurred? Ans: The key events were the acquisition of the ability to rearrange DNA gene segments via insertion of a transposable element into the 3' region of an ancestral beta (T-cell receptor family) gene segment followed by gene duplication, divergence, and adaptation. Difficulty: 3 Page 401 92. What are the most interesting features of the human beta T-cell receptor family? Ans: The 700 kb T-cell receptor gene family on chromosome 7 in humans contains 45 functional V beta gene segments, 19 pseudogene segments, 2 clusters containing 1 D segment and 5 - 6 functional J gene segments in 7 genomic modules, and LINE and Alu repetitive sequence elements occupying about 36 percent of the total DNA. Difficulty: 4 93. What are three unique features of the Burgess Shale fossils? Ans: The fossils have a great variety of basic “body plans,” the evolution of these “body plans” occurred in a very short evolutionary time frame of about 10 - 20 million years, and all the phyla present today came into existence during this Cambrian “explosion” of metazoan life forms. Difficulty: 4 94. Catastrophic evolution has occurred a number of times during the evolution of life forms on earth and has resulted in great changes in species numbers and dominance. If a large asteroid struck the earth today what would be the effects of an oceanic impact and what might be the consequences? Ans: An asteroid impact into the sea would drastically alter earths climate and ecosystem integrity for years following the event. Massive tidal waves, fires, acid rain, and atmospheric dust clouds would kill most organisms outright followed by a great reduction in photosynthesis which would greatly impact both the aquatic and terrestrial food chains. Mass extinctions would occur in the now “toxic” environment heated by gasses and fires followed by deep cold. Could we be among the species that are sufficiently adaptive or opportunistic to survive? Difficulty: 4 95. Once life in cellular form emerged, living organisms evolved into three distinct domains (kingdoms). What are they? Ans: archaea, bacteria, and eukarya. Difficulty: 2 96. In evolutionary terms, what is punctuated equilibrium? Ans: The tendency of evolution to proceed through long periods of stasis (lack of change) followed by short periods of considerable change. Difficulty: 2 Page 402 Experimental Design and Interpretation of Data 97. What evolutionary conclusions can be drawn from a comparison of the human and mouse beta T-cell receptor gene complexes? Ans: DNA sequence analysis has revealed that very different repetitive DNA sequences are spread throughout the region between both species. The general organization of the genes has been evolutionarily conserved. Trypsinogen genes are associated within the segments of both species but have been considerably more amplified in the mouse while the human segments have experienced an enhanced amplification of V beta T-cell genes. Difficulty: 4 98. What three key requirements would be expected of a molecule capable of self replication in the earliest proto cells? Ans: The ancestral molecule may have been RNA which could have preceded DNA as the repository of genetic information. The requirements for such a molecule in the primordial RNA world would have to be: To encode genetic information in a digital alphabet containing four RNA letters, assume variable three dimensional structures capable of self replication and directing other cellular reactions, and to expand the population of successful molecules and processes through selective adaptation. Difficulty: 4 99. Scientist have determined that chimpanzee and human genomes are approximately 99% similar with nearly identical karyotypes yet remarkable differences exist in phenotypic expression. Interpret this data. Ans: The data suggests that developmental expression of genes leads to significant differences between chimps and humans rather than absolute differences in protein coding regions of the two genomes. Difficulty: 3 100. Two hypothetical populations of animals exist, one is immense covering a large continent and the other rather small which occupies an area the size of Chicago, IL. Predict the effect of each population's size on its genetic drift. Ans: The smaller the population, the more rapidly genetic drift effects it. Difficulty: 3 Page 403