97_09_LB_Mutation+Repair.ppt

97_09_LB_Mutation+Repair.ppt - 1 Mutation and Repair of DNA...

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Unformatted text preview: 1 Mutation and Repair of DNA Bio 97 2000-2007 Lee Bardwell Lecture Outline Mutation Classes Substitution, Insertion, Deletion, Duplication Silent, Missense, Nonsense, Frameshift Spontaneous Mutations/Damage Induced Mutations/Damage Fate of damaged DNA Mutation Rate DNA-repair defective diseases 2007 Lee Bardwell Lecture Outline Mutation Classes Substitution, Insertion, Deletion, Duplication Silent, Missense, Nonsense, Frameshift Spontaneous Mutations/Damage Induced Mutations/Damage Fate of damaged DNA Mutation Rate DNA-repair defective diseases 2007 Lee Bardwell Gross Mutations - Observable cytogenetically (i.e., at the level of the chromosome) Include Deletions, Duplications, Inversions, Translocations (covered first half of course) 1999 Lee Bardwell 2 Fine-Scale Mutations - Involve less than 1000 base pairs Often, just a single base pair is changed Include substitutions, deletions, insertions, duplications 1999 Lee Bardwell 5----------GAATTC---------3 3----------CTTAAG---------5 Substitutions: 5----------GA T TTC---------3 3----------CT A AAG---------5 5----------GA G TTC---------3 3----------CT C AAG---------5 Deletion: 5----------GAATC----------3 3----------CTTAG----------5 1999 Lee Bardwell 5----------GAATTC---------3 3----------CTTAAG---------5 Insertion: 5----------GAA C TTC---------3 3----------CTT G AAG---------5 Duplication: 5----------GAAT AT TC--------3 3----------CTTA TA AG--------5 2000 Lee Bardwell Substitutions that occur in protein-coding sequences Silent- changes a codon, but not the encoded amino acid residue possible because the code is degenerate Missense- changes the encoded residue Nonsense- an amino acid-encoding codon becomes a stop codon 1999 Lee Bardwell 3 EXAMPLES - substitutions Silent- TG T (Cys)--> TG C (Cys) GC A (Ala)--> GC N (Ala) (N = any) Missense- TG T (Cys)--> TG G (Trp) Nonsense- TG T (Cys)--> TG A (STOP) 2000 Lee Bardwell Deletions or insertions that occur in protein- coding sequences in multiples other than 3 will cause frameshift mutations 2000 Lee Bardwell Frameshift example NH2- Met-Thr-Leu -Lys -COOH 5-ATG- A CC-TTG-AAA-TAA-3 NH2-Met-Pro -COOH 5-ATG-CCT-TGA-AAT-AA-3 Delete A 2000 Lee Bardwell See t h e man pat the pet cat See tem anp att hep etc at 2001 Lee Bardwell Frameshift 4 Lecture Outline Mutation Classes Substitution, Insertion, Deletion, Duplication Silent, Missense, Nonsense, Frameshift Spontaneous Mutations/Damage Induced Mutations/Damage Fate of damaged DNA Mutation Rate DNA-repair defective diseases 2007 Lee Bardwell Spontaneous Mutations Mistakes Replication errors Polymerase misincorporation Recombination errors Unequal crossing over, etc....
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This note was uploaded on 02/09/2011 for the course BIO 97 taught by Professor Edinger during the Spring '10 term at UC Irvine.

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97_09_LB_Mutation+Repair.ppt - 1 Mutation and Repair of DNA...

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