Molecular Genetics BSCI410 Review for 3rd exam; Lectures 13-17--------------------------------------------------------------------------------------------------------------------------1Study material.This study guide covers material for the third hour exam: Regulation of transcription; RNAprocessing, stability, localization and translation; Physical and genetics maps; LOD scores andallelic association; Complex traits and types of allele. The exam is Tuesday, Nov. 22.Be able to define, discuss, and explain the following:polycistronic monocistronic antiterminationhelix-turn-helix motif recognition helix CTDcore promoter enhancer silencergeneral transcription factors preinitiation complex zinc fingerhomeodomain bZIP domain bHLH domainnucleosome euchromatin heterochromatinPEV (position effect variegation) consensus sequence RNA polymerases I, II & IIIDNAase hypersensitve site LCR (locus control region) de novo methylationDNA methylation histone acetylation epigeneticimprinting maintenance methylase spliceosomeexon intron lariatSR protein snRNP ESEcap polyadenylation signal nonsense-mediated decayRNA editing trans-splicing aminoacyl-tRNAaminoacyl-tRNA synthetase initiator methionyl tRNA peptidyl-tRNAShine-Dalgarno sequence scanning model of eukaryotic initiationA site P site E sitenonsense mutations missense mutations Ran GTPasesmall ribosomal subunit large ribosomal subunit EJC (exon junction complex)RNAi siRNA miRNAdicer RISC ubiquitinFISHphysical map genetic map cytological mapchromosome painting pulsed gel electrophoresis contigradiation hybrid YAC BACSTS EST microsatellitesCEPH kindred lod score SNPautozygosity linkage disequilibrium allelic associationidentity by descent informative meioses pseudogeneshaplotype incomplete penetrance phenocopygenetic heterogeneity polygenic determination allelic serieshypermorph neomorph hypomorphantimorph dominant negative haploinsufficientMolecular Genetics BSCI410 Review for 3rd exam; Lectures 13-17--------------------------------------------------------------------------------------------------------------------------2Thought-provoking questions:Why is it advantageous in a complex genome for genes to have multiple independently regulatedenhancers?What differences in gene expression and genome structure between prokaryotes and eukaryotes canbe attributed, directly or indirectly, to differences in the mechanism of translation initiation?Which tRNA is able to enter the P site of the ribosome without passing through the A site?Review questions.Know the properties of active and inactive chromatin.Review sex determination in Drosophila (pp. 605-609) as an example of regulation by transcriptionand alternative splicing. Know and be able to compare the mechanisms of dosage compensation inmammals and in Drosophila.Review pattern formation in Drosophila (pp. 826-838) as an example of transcriptional and post-transcriptional regulation of gene expression including RNA localization.Be sure that you understand the yeast two-hybrid assay for protein-protein interactions, both as atechnique and as an illustration of principles behind transcriptional activation.Sometimes, two wild-type alleles at a locus are inherited, but only one is expressed. Be able to giveat least two examples of this phenomenon (which is known as monoallelic expression).Be able to explain the transmission disequilibrium test and sib pair anlysis.You are studying a disease known as Mount's syndrome that you believe is genetic. You have 100patients, and you determine their genotypes at each of four biallelic marker loci A, B, C and D. Asa control, you examine 100 unaffected people from the same region of the country. The followingis a table of gene frequencies for each locus:locus A locus B locus C locus DUnaffected 85 A1, 15 A251 B1, 49 B278 C1, 22 C25 D1, 95 D2Affected 83 A1, 17 A248 B1, 52 B237 C1, 63 C230 D1, 70 D2Which alleles are associated with Mount's disease?Can you conclude that marker locus C is linked to a gene affecting Mount's disease? If not, suggestalternative
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