Lecture 8 Notes Flashcards
Molecular mechanism of recombination
- DNA is cut
- an exonuclease produces single-stranded regions with exposed 3’ ends
- strand invasion results in heteroduplex formation
- formation of a double Holliday junction
- branch migration extends the region of heteroduplex
- resolution of the Holliday Junctions
gene conversion from recombination
heteroduplexes formed during recombination may have different sequences (alleles) on the two DNA strands of a single DNA
mutations
change in base pair sequence of DNA
substitution
changing one nucleotide for another
deletion
deleting a nucleotide from a sequence
insertion
inserting a nucleotide into the sequence
slipped mispairing
DNA polymerase pauses and newly synthesized strand slips
triplet repeat diseases - polyQ
Q= amino acid glutamine
protein is altered
dominant mutant
ex: Huntington disease
non poly Q triplet repeat diseases
ex: fragile x syndrome
no alteration of protein structure
alteration of mRNA 5’ UTR interferes with protein expression
triplet repeats
have hyper mutability
mutagens
things in the environments that can cause mutations
somatic mutations
mutations that occur in body cells (aren’t passed down0
germ line mutations
mutations that occur in sex cells and can be passed down
point mutations
can produce or revert a mutant
forward mutation
wild type -> mutant
test: screening