Lesson 8: Where New Alleles and Genes Come From PDF

11/12/2024 Where new alleles and genes come from Lesson 8 Different versions were noted: ▄ 49th codon – proline or alanine ▄ 262nd codon – alanine or valine ▄ 296th codon – valine or isoleucine AVI & PAV alleles Un-kyu...

11/12/2024 Where new alleles and genes come from Lesson 8 Different versions were noted: ▄ 49th codon – proline or alanine ▄ 262nd codon – alanine or valine ▄ 296th codon – valine or isoleucine AVI & PAV alleles Un-kyung Kim et al., 2003 1  11/12/2024 Where do new alleles come from? The structure of the genetic material Where do new alleles come from? DNA replicates by complementary base pairing 2  11/12/2024 Mutation by deamination Spontaneous deamination Mutation by deamination Mutation by misalignment Mutation by misalignment results in duplications and deletions 3  11/12/2024 Premutation MAMMALIAN CELL 20,000 CASES OF SPONTANEOUS CHEMICAL DECAY PER DAY 100,000 REPLICATION ERRORS PER DIVISION DNA Repair DNA Proofreading and Repair 4  11/12/2024 DNA Repair The Importance of proofreading during replication How do mutations alter protein function Genetic information flows from DNA to mRNA to protein. 5  11/12/2024 How do mutations alter protein function The Genetic Code Point Mutation Transitions and Transversions 6  11/12/2024 Point Mutation No Mutation Silent Mutation DNA level TTC TTT mRNA level AAG AAA Protein level Lysine Lysine Point Mutation Non-synonymous/ Missense No Mutation Silent Mutation Conservative Non-conservative DNA level TTC TTT TCC TGC mRNA level AAG AAA AGG ACG Protein level Lysine Lysine Arginine Threonine 7  11/12/2024 How do mutations alter protein function Figure 8. The Genetic Code Point Mutation Non-synonymous/ Missense No Mutation Silent Mutation Conservative Non-conservative DNA level TTC TTT TCC TGC mRNA level AAG AAA AGG ACG Protein level Lysine Lysine Arginine Threonine 8  11/12/2024 Different versions were noted: ▄ 49th codon – proline or alanine ▄ 262nd codon – alanine or valine ▄ 296th codon – valine or isoleucine AVI & PAV alleles Un-kyung Kim et al., 2003 Point Mutation Non-synonymous/ Missense No Mutation Silent Mutation Conservative Non-conservative Nonsense DNA level TTC TTT TCC TGC ATC mRNA level AAG AAA AGG ACG UAG Protein level Lysine Lysine Arginine Threonine STOP 9  11/12/2024 Alpha-actinin-3 is a protein that connects with actin filaments in the Z line. RNA Editing 10  11/12/2024 Adermatoglyphia – absence of fingerprints SMARCAD1 SWI/SNF-RELATED MATRIX- ASSOCIATED ACTIN-DEPENDENT REGULATOR OF CHROMATIN SUBFAMILY A CONTAINING DEAD/H BOX 1 Deletion Mutation 11  11/12/2024 Where do new genes come from? Gene Duplication – unequal crossing over Duplication by unequal crossing over 12  11/12/2024 Gene Duplication – unequal crossing over Gene Duplication – unequal crossing over 13  11/12/2024 Gene Duplication – Retroposition or Retroduplication Gene Duplication – Retroposition or Retroduplication Chondrodysplasia in dogs 14  11/12/2024 Gene Duplication – Retroposition or Retroduplication A new copy of gene fgf4 from retroposition Parker et al., 2009 New genes from scratch C22orf45, a new gene from non coding DNA 15 11/12/2024 16