Pierce
GENETICS ESSENTIALS
Concepts and Connections
SECOND EDITION
CHAPTER 13
Gene Mutations, Transposable
Elements, and DNA Repair
© 2013 W. H. Freeman and Company
OUTLINE
• Categories of Mutations
• Suppressor Mutations
THE IMPORTANCE OF MUTATIONS
• Somatic Mutations
• Germ-line Mutations
• Base substitutions
• Transition
• Transversion
• Loss-of-function mutations
• Usually recessive
• Gain-of-function mutations
• Usually dominant
• Conditional mutations
• Require specific conditions
• Lethal mutations
SUPPRESSOR MUTATIONS
• Intragenic
SUPPRESSOR MUTATIONS
• Intergenic
MUTATION RATES
• Adaptive mutations
FACTORS AFFECTING MUTATION RATES
• Radiation
SPONTANEOUS REPLICATION ERRORS
• Tautomeric shifts
• Tautomeric shifts
• Mispairing due
to other
structures
• Wobble pairing
SPONTANEOUS REPLICATION ERRORS
• Mutagen
• Base analogs
CHEMICALLY INDUCED MUTATIONS
•Features:
•Flanking direct repeats
•Terminal inverted repeats
TRANSPOSABLE ELEMENTS ARE MOBILE DNA
SEQUENCES CAPABLE OF INDUCING MUTATIONS
•Examples:
• Approximately half of spontaneous
mutations in Drosophila
• Human genetic diseases
• The color of grapes
TRANSPOSITION
• Retrotransposons
• Replicative transposons
• New copy is introduced on the new site, old copy remains on the
original site
• Nonreplicative Transposons
• Excises from old site and inserts in a new one (no copy increase)
A NUMBER OF PATHWAYS REPAIR
CHANGES IN DNA
• Mismatch Repair
• Direct Repair
• Base-excision Repair
• Nucleotide-excision Repair
A NUMBER OF PATHWAYS REPAIR
CHANGES IN DNA
Mismatch
Repair
A NUMBER OF PATHWAYS REPAIR
CHANGES IN DNA
• Direct Repair
A NUMBER OF PATHWAYS REPAIR
CHANGES IN DNA
• Base-excision Repair
DNA glycosylases
Uracil glycosylase
• Nucleotide-excision Repair
Removes bulky DNA lesions (pyrimidine dimers)
A NUMBER OF PATHWAYS REPAIR
CHANGES IN DNA