Genetics Exam 3 Study Guide
Genetics Exam 3 Study Guide BIOL/PBIO 3333
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This 11 page Study Guide was uploaded by Lauran Notetaker on Sunday April 10, 2016. The Study Guide belongs to BIOL/PBIO 3333 at University of Oklahoma taught by Dr. Jim Thompson in Winter 2016. Since its upload, it has received 14 views. For similar materials see Genetics in Biology at University of Oklahoma.
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Date Created: 04/10/16
March 7, 2016 VI. Mutation A. Types B. Methods of Detection C. Rate D. Some causes VII. Mutations as a tool for Biochemical pathways A. Garrod-Inborn Errors of Metabolism B. Beadle and Tatum “One Gene-One Enzyme” C. Prototrophs vs Autotrophs D. Pathway Interpretation Genes don’t act independently Genetics is study of abnormalities ! Garrod’s Classic: Inborn errors of metabolism ! Met+ is an auxotroph (nutritional mutation) prototroph - the normal allele (Met+) Prototroph (normal) mutations that lead to nutritional deﬁciencies auxotrophs “one genes, one enzyme” hypothesis later reﬁned to “One gene, one polypeptide” hypothesis March 9, 2016 VII. Mutations as a tool for Biochemical Pathways A. Garrod - Inborn Errors of Metabolism B. Beadle and Tatum “One Gene - One Enzyme” C. Prototrophs and Autotrophs D. Pathway Interpretation VIII. Coding by DNA A. The Coding Problem - overview 1. “Central Dogma” 2. Types of RNA B. Transcription - overview C. Translation 1. The Nature of the Code larger number of + closer to the beginning of mutation (top)(right) large number of - closer to end (bottom)(left) all (+) either no mutation or mutation early “Central Dogma” of molecular biology DNA RNA polypeptide (protein) transcription translation (can go both under ways) transcription - produces an RNA copy of a gene mRNA - a temporary copy of a gene that contains info to make a polypeptide translation - produces a polypeptide using the info in mRNA polypeptide - becomes part of a functional protein that contributes to an organism’s traits Prokaryotes - no compartmentation Eukaryotes - nucleus/cytoplasm ! ! ! triplet code is simplest code because 4^3 = 64 3.21.2016 VIII. Coding by DNA B. Transcription - overview C. Translation 1. The Nature of the Code D. Events of Transcription 1. Promoter 2. Termination 3. Processing - overview E. Events of Translation 1. Protein Structure 2. Protein Synthesis a. Initiation b. Elongation c. Termination Participation #4 of 8 3rd Exam is April 8th NOT April 1st. All topics stated that will be covered is correct though. 3.23.2016 VIII. Coding by DNA D. Events of Transcription E. Events of Translation 1. Protein Structure 2. Protein Synthesis a. Initiation b. Elongation c. Termination F. An Application: Manipulating DNA replication: PCR Promoter - RNA Polymerase attaches close to a gene’s initiation site Enhancer - Binds activator proteins retains function even when reversed or moved far from gene whose transcription it inﬂuences Intron: RNA that is part of the primary transcript which is removed from mature mRNA Exon: part of the primary transcript that remains in the mature mRNA Primary transcript contains both introns and eons introns must be removed Evidence for Introns 1. RE enzymes - restriction endonucleases ! compare mRNA cDNA “copy DNA” reverse transcriptase RE sites are original in DNA, missing in cDNA Transcription - reads template strand from 3’ to 5’ to produce mRNA Translation - reads mRNA from 5’ to 3’ to produce polypeptides Structures Primary Secondary - inﬂuenced by how adjacent amino acids interact Tertiary Quaternary 3.25.2016 Exam #3 is April 8th, not April 1st VIII. Coding by DNA E. Events of Translation 1. Protein Structure 2. Protein Synthesis a. Initiation b. Elongation c. Termination IX. Chromosome Organization A. Single vs. repetitive sequences B. Nucleosomes C. Higher orders of folding X. Changes in Structure and Number A. Chromosome Mutations (aberrations) AUG - start codon ! ! ! ! ! ! ! ! E ! ! A-site - amino-acyl site P-site - peptidyl bond E-site - exit site removed in inactive form PCR - polymerase chain reaction attach to scaffold proteins “looped proteins” 20,000 - 80,000 bp on average “chromomeres” H1 serves as binding protein in nucleosome Other non-histone proteins appear to gather several loops together into daisy like rosettes Polytene chromosomes of Drosophila - allow detailed study of the relationship between genes and chromosome morphology acentric chromosome - one centromere dicentric chromosome - two centromeres March 30, 2016 IX. Chromosome Organization X. Changes in Structure and Number A. Chromosome Mutations (aberrations) 1. Deletions 2. Duplications 3. Inversions 4. Translocations 5. Deletion Mapping B. Changes in Number 1. Euploidy vs Aneuploidy 2. Non-disjunction 3. Ployploidy XI. Bacterial and Viral Genetics Cri du Chat (french, cry of the cat) syndrome - a chromosome deletion syndrome - collection of symptoms that correlate together for a speciﬁc disease Pericentric inversion - different chromosome arms, centromere is included in inversion Paracentric inversion - Same chromosome arm acentric - no centromere, will get lost during meiosis Homozygous - cell isn't going to be effected at all Heterozygous - form a loop translocation heterozygote - has to include chromosomes from 2 linkage groups April 1, 2016 X. Changes in Structure and Number A. Chromosome Mutations (aberrations) 5. Deletion mapping B. Changes in Number 1. Euploidy vs Aneuploidy 2. Non-disjunction 3. Polyploidy XI. Bacterial and Viral Genetics A. remember: prototrophs and auxotrophs B. Methods of Replication 1. Sigma mode 2. Theta mode C. DNA transfer in bacteria Upcoming Events: Exam #3 (April 8th), Term Essay (April 11th) Participation #5 of 8 An Application: Deletion Mapping Where deletions all overlap will be answer Non-disjunction (double negative) - coming together in division one 2 (n+1), 2 (n-1) in division two 1 (n+1), 1 (n-1), 2 (n) 2n-1 monosomic 2n+1 trisomy Down Syndrome Etiologies Trisomy 21 95% Inherited translocation 4% Mosaic 1% *Flat facial proﬁle, small nose, epicentral folds of the eyelid, varying degrees of mental retardation frequency = 1/600 newborns More frequent in mothers who are older Pataus Syndrome Trisomy 13 - Three copies of chromosome 13, cleft lip, cleft palette, severe mental retardation Edward Syndrome Trisomy 18 - severe growth deﬁciency, mental retardation, congenital heart disease, etc. XO 2n=45 monosomic for the X chromosome April 4, 2016 X. Changes in Structure and Number B. Changes in Number 1. Euploidy vs. Aneuploidy 2. Non-disjunction 3. Polyploidy XI. Bacterial and Viral Genetics A. remember: prototrophs and auxotrophs B. Methods of Replication 1. Sigma mode 2. Theta mode C. DNA Transfer in Bacteria 1. F+, F-, Hfr, and F^t 2. Conjunction 3. Transformation 4. Transduction 5. F-duction or sex-duction XII. Extranuclear inheritance Exam #3 Friday Term Essay due Monday April 11th (A week from today) Turner syndrome XO 2n = 45 monosomic for the X chromosome Etiology: usually from nondisjunction in the father Barr Bodies a means for dosage compensation To “equalize” the number of active X chromosomes in males and females Kleinfelters Syndrome XXXXY XXY “theta mode” of replication Transformation Conjunction The F factor - Conjunction by a specialized plasmid in the donor cell Hfr = High frequency recombination F-factor (plasmid) physically incorporated by crossing over April 6, 2016 X. Changes in Structure and Number B. Changes in Number 1. Euploidy vs. Aneuploidy 2. Non-disjunction 3. Polyploidy XI. Bacterial and Viral Genetics A. remember: prototrophs and auxotrophs B. Methods of Replication 1. Sigma mode 2. Theta mode C. DNA Transfer in Bacteria 1. F+, F-, Hfr, and F^t 2. Conjunction 3. Transformation 4. Transduction 5. F-duction or sex-duction (XII. Extranuclear inheritance) Participation #6 of 8 Extranuclear inheritance will not be on the exam Transformation - lysis of donor cell releases DNA into environment the Donor DNA is taken up by the recipient cell Conjugation - Donor DNA is transferred directly through a connecting tube. Contact and transfer are promoted by a specialized plasmid in the donor cell The specialized plasmid in the donor cell is The F factor Transduction - Bacteriophage infects the donor cell lysis of donor cell. Donor DNA is packaged in released bacteriophage. Donor DNA is transferred when phage particle infects recipient cell. F’ (“F-prime”) factor is an F factor that been excised from the Hfr chromosome but now carries a section of the bacterial chromosome with it Transduction = transfer of bacterial DNA from one cell (donor) to another by way of a virus Specialized transduction: restricted to certain genes Generalized transduction: some viruses can insert anywhere ! ! ! Co-transduction - carriage of two or more bacterial genes by a virus Co-transformation - Co-sex-duction - carriage of genes to a cell by an F factor Never B+ and E+ genes transferred together without C+ and D+ with them Departure from Diploidy in Plants Polyploid species: number of complete chromosome sets > 2 -auto(“self”)polyploids: contain multiples of the same chromosome set (same species) allo(“other”)polyploids: contain multiples of different chromosome sets (different species) Amphidiploids = nonidentical chromosome sets are doubled in allopolyploid April 8, 2016 Exam III
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