What is a mutation?
heritable change in the DNA; the process by which such a change occurs
What is a mutant?
a cell/organism with a mutation
How do mutations occur?
there is no repair or incorrect DNA repair to damaged base pairs
Are all mutations spontaneous?
no. Some are induced (i.e. UV)
What is a mutagen?
physical or chemical agent that raises the mutation frequency above the spontaneous rate
What happens in the deamination of cytosines?
A spontaneous reaction turns cytosine to uracil (water kicks out an amine group)
A GC bp turns into a GU bp
during the next round of DNA replication, uracil behaves like thymine, and pairs with adenine
ends up with GC AU
Then GC AU turns into GC GC and AT AU
Therefore, the consequence is that GC turns to AT
What is base excision repair (BER)?
1) DNA repair enzymes recognize damaged bases and remove them
2) other DNA repair enzymes replace the DNA (i.e. sugar and P, then dCTP with DNA pol and DNA ligase)
Give an example of and enzyme used in BER. What does it do?
uracil DNA glycosylase (removes uracil)
DNA polymerase misaligns in repeat-rich regions, causing small insertions or deletions (indels). What is this called?
Replication slippage
What are the two types of spontaneous mutations?
base pair substitutions
indels
What are the two DNA repair systems learned?
BER: fixes damaged nucleotides
NHEJ: fixes damaged chromosomes
What is the result of deamination of cytosines?
GC to AT bp mutation