Genetics Final Exam Summer 2012 VERSION B. Multiple Choice (50 pts. possible) IF you completed the in-class workshop put a CHECK MARK HERE --->

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1 enetics Final Exam Summer 2012 VERSION B Name Multiple hoice (50 pts. possible) Problems (50 points possible) Total (100 points possible) KEY IF you completed the in-class workshop put a HEK MRK HERE ---> There are two sections in the exam: MLTIPLE HOIE PROBLEMS 25 questions worth 2 points each. - nswer on the Scantron Form 11 problems worth 5 points each. If you completed the workshop we will drop the 2 lowest scores. OR If you did not complete the workshop we will drop the 1 lowest score. Phe Phe Leu Leu Leu Leu Leu Leu Ile Ile Ile Met Val Val Val Val Ser Tyr Ser Tyr Ser Stop Ser Stop Pro Pro Pro Pro Thr Thr Thr Thr la la la la His His ln ln sn sn Lys Lys sp sp lu lu ys ys Stop Trp rg rg rg rg Ser Ser rg rg ly ly ly ly 5' Base in nticodon 3' Base in odon or or I, or 1

2 1. In the table below you are given the genotypes of 4 E. coli strains. ll 4 strains are "diploid" for the Lac Operon region. For each of the strains, indicate (using + or -) whether or not the Lac gene products will be expressed at high levels in the presence or absence of inducer. ssume that the inducer IPT is used rather than lactose. Beta alactosidase Lactose Permease ENOTYPE no inducer with inducer no inducer with inducer I S P + O + Z - Y - I + P + O c Z + Y I + P + O + Z + Y - I P + O c Z + Y I S P - O c Z + Y - I + P + O + Z + Y I + P - O + Z + Y - I P + O c Z - Y HINTS: I - = I O c = O - For wild-type E. coli the correct responses would be: Beta alactosidase Lactose Permease ENOTYPE no inducer with inducer no inducer with inducer I + P + O + Z + Y The diagram below depicts a charged trn interacting with a codon in a mrn. The six squares represent the nucleotides of the codon paired with the anticodon, and the rectangle represents the amino acid attached to the acceptor stem of the trn. Some of the 7 identities represented by the squares and the rectangle are given. Work out the identities for the remaining empty shapes and add them to the diagram. i.e. fill any remaining empty squares and/or rectangle with the correct nucleotide or amino acid. If there are any boxes where the identity cannot be unambiguously determined, IVE LL THE POSSIBILITIES. ly trn I mrn NOTE: DO NOT SSME that the mrn is shown in the usual orientation. You must determine the orientation from the information provided. 2

3 3. Describe the molecular basis for the fact that base pairs in which the is methylated (5-methylcytosine) are hotspots for a certain type of mutation. Deamination of 5-me creates a T mismatch. T mismatches cannot be repaired by the uracil DN glycosylase which repairs the normal cytosine deamination lesion (i.e. mismatch). 4. For an (rg) codon, how many of the possible single base pair substitution changes are synonymous, missense, and nonsense? Synonymous 2 Missense 6 Nonsense 1 3

4 5. This is a matching problem that involves the mutational processes we considered in detail. These mechanisms are listed in the left-hand column. In column 2, write the letter designation only for the pre-mutagenic lesion that is created by each mechanism. In column 3 write the letter or letters designation for the repair mechanism/s that can correct the lesion. In column 4 write the letter designations to indicate the overall mutational change that results from each process. Each choice may be used one or more times. Each box may have one or more appropriate responses MTENI PROESS PREMTENI LESION/S REPIR MEHNISM/S OVERLL MTTION/S Tautomeric Shifting of Bases (+ B OK) H, K, L M (+N OK) (e.g. keto/enol) ltraviolet (V) Radiation D F N Deamination of 5-methyl ytosine B I N Deamination of ytosine J,, L N PREMTENI LESION/S ll possible Normal Base Pair Mismatches with incorrect base in newer DN strand LETTER REPIR MEHNISM/S Letter OVERLL MTTION/S Photolyase F T Bidirectional Transitions - T Mismatch B P Excision T nidirectional Transition - Mismatch Methyl-Directed Mismatch Repair TT Intrastrand Dimer D No specific repair mechanism T - T Mismatch E racil DN lycosylase Proofreading by DN Polymerase Single Strand ap Repair LETTER H Transversions O I J K L M N 4

5 6. Imagine that a mutation eliminates expression of the gene for the regulatory protein P. (i.e. s a result of this mutation there is no longer any P protein in the cell.) How would this mutation alter expression of the Lac operon genes? (i.e. How would Lac gene expression be different in the mutant compared to the wild-type strain where P was present?) denyl cyclase is required to synthesize cmp under conditions of glucose limitation. Therefore P activation of Lac (and other catabolic operons) would not occur. Production of lac mrn would still be regulated by lactose, but even in the absence of glucose would not be produced at levels as high as in a wild-type strain. High levels of Lac mrn transcription would not be observed even in presence of lactose and absence of glucose because the P regulator would not bind to its operator. 7. ive the anticodon sequences (with polarities) of LL possible ysteine-specific trn's. ircle the anticodon sequences in your complete set that would represent a minimum set needed to translate all Tyrosine codons. If they are all required, circle them all. (There may be more than one minimum set. If so, you need give only one of them.) ysteine = ys MXIMM MINIMM 3' 5' 3' 5' 3' 5' 5

6 8. The diagram represents a segment in a larger DN molecule, where a base mismatch ( with ) has resulted from tautomeric shifting of a base in the template strand during DN replication. The diagram also shows a nearby T sequence. 1. Which of the bases in the mismatch is erroneous? 2. se an arrow to indicate the approximate location of strand cutting by the endonuclease muth. nmethylated T 3. If the mismatch is not repaired, the overall mutation that would result is: (ircle One) ---> T 4. What is the identity of the base that experienced the tautmeric shift? (ircle one) 9. ngelman syndrome (S) is a rare human genetic disorder in which individuals exhibit unusual seizures and repetitive symmetrical muscle movements and which is due to lack of expression of the gene BE3. Expression of BE3a is subject to maternal imprinting. Two normal parents have a female child born with S who carries a defective copy of BE3a. a. Which one of her parents must be heterozygous for the defective BE3a allele? (Defective BE3a alleles are very rare in the human population, so it is unlikely that both parents carry it.) MLE PRENT b. If the couple has a son, what is the probability that he will have S? 1/2 6

7 10. ive 3 important and significant differences between bacterial genomes and eukaryotes. ircular vs Linear DN no nucleus vs nucleus mostly coding DN vs mostly non-coding DN single vs multiple origins of replication other responses may be acceptable as well 11. In a paragraph, describe the differences between "maternal effect" and "maternal inheritance". The differences you address should include the inheritance pattern of traits as seen in genetic crosses, and the cellular/molecular bases of the two phenomena. If you wrote your answer ahead of time, just staple it to the back of your exam. Maternal effect genes are transcribed in cells of a female during oogenesis and the mrn or protein products of the gene are transported into oocytes where the effect early development of the embryo. Therefore the phenotype of the offspring reflects the genotype of the mother. Maternal inheritance is due to the transmission of mitochondria and chloroplasts, and their associated genomes, via the egg but not the sperm. Therefore the genotype of the offspring will be identical to that of the mother. 7

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