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a+ --> a- mutation (forward mutation)

a+ --> a- mutation (forward mutation). a- --> a+ reverse mutation ( revers ion). Presence of pink pigment + / -. Amorph Hypomorph Hypermorph Neomorph. An ALLELIC SERIES for this gene. Animation ed.9: 9.2&9.17 TRANSLATION. Animation ed.9: 9.2&9.17 TRANSLATION.

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a+ --> a- mutation (forward mutation)

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  1. a+ --> a- mutation (forward mutation) a- --> a+ reverse mutation (reversion)

  2. Presence of pink pigment + / - AmorphHypomorphHypermorphNeomorph An ALLELIC SERIES for this gene

  3. Animation ed.9: 9.2&9.17 TRANSLATION

  4. Animation ed.9: 9.2&9.17 TRANSLATION

  5. Now, insertions and deletions of base pairs:

  6. Forward mutation

  7. Reverse mutation

  8. Intragenic suppressor Equivalent reversion UCC (Ser)forwardUGC (Cys)reverseAGC (Ser) Wild type Mutant Wild type CGC (Arg, basic) forwardCCC (Proline) reverseCAC (His, basic) Wild type Mutant Pseudo-wild type

  9. Intragenic suppressor

  10. Intergenic suppressor

  11. Intergenic suppressor Nonsense suppressor

  12. Animation ed9: 9.19a Nonsense mutation

  13. Animation ed9: 9.19b Nonsense suppressor

  14. Animation 9.19c Nonsense suppression rodns and suppressor-tRNA together give WT phenotype

  15. Coding Regulatory

  16. Series of slides on molecular markers / genetic mapping (RF)

  17. When doing GENETIC mapping,Molecular Markers can be used as a locus Single Nucleotide Polymorphisms (SNPs) AACGTCATCG vs. AACGTTATCG Microsatellites (variable # of short repeats) CGCGCG vs. CGCGCGCGCG vs. CGCG Restriction Fragment Length Polymorphism (RFLP) SNP leading to a loss/gain of a restriction cut site

  18. When doing GENETIC mapping,Molecular Markers can be used as a locus Almost all SNPs, Microsatellites, etc. are SILENT, and there are millions of them They are mile-markers, not destinations! אבני דרך, ולא יעדים!

  19. Is there linkage between a mutant gene/phenotype and a SNP? USE standard genetic mapping technique, with SNP alternative sequences as “phenotype” B= bad hair, Dominant B 2’ / b 2 SNP1 ..ACGTC.. SNP1’ ..ACGCC.. SNP2 ..GCTAA.. SNP2’ ..GCAAA.. SNP3 ..GTAAC.. SNP3’ ..GTCAC.. X 1/1’1/1 B/b b/b 2/2’ 2/2 3/3’ 3/3 2/2’ 47% 2/2 3% 2/2’ 3% 2/2 47% 3/3’ 25% 3/3 25% 3/3’ 25% 3/3 25% 1/1’ 25% 1/1 25% 1/1’ 25% 1/1 25% B/b B/b b/b b/b SO…B is 6 cM from SNP2, and is unlinked to SNP 1 or 3

  20. Is there linkage between a mutant gene/phenotype and a SNP? USE standard genetic mapping technique, with SNP alternative sequences as “phenotype” B= bad hair, Dominant SNP1 ..ACGTC.. SNP1’ ..ACGCC.. SNP2 ..GCTAA.. SNP2’ ..GCAAA.. SNP3 ..GTAAC.. SNP3’ ..GTCAC.. X 1/1’1/1 B/b b/b 2/2’ 2/2 3/3’ 3/3 We have the ENTIRE genome sequence of mouse, so we know where the SNPs are Now-do this while checking the sequence of THOUSANDS of SNPs SO…B is 6 cM from SNP2, and is unlinked to SNP 1 or 3

  21. CGCGCG vs. CGCGCGCGCG vs. CGCG

  22. ~1990

  23. Screening for mutations • Finding the very rare cases where NEW ALLELES arise

  24. Types of mutations

  25. Types of mutations

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