Spontaneous Mutations Flashcards
Mutation
A heritable change in the DNA; the process by which such a change occurs
Mutant
A cell or organism carrying a mutation
How do mutations come to be?
They can be either spontaneous or induced due to an external factor
Mutagen
A physical or chemical agent that raises the frequency of mutation above the spontaneous rate
Deamination of Cytosines
A spontaneous reaction turns cytosine into uracil
Happens to 100 bases/cell/day
Events of Deamination of Cytosines
Deamination of cytosine within DNA turns a GC bp into a GU bp
During DNA replication, one template will use a dCTP and the other will use a dATP
After another DNA replication, the result is a GC to AT bp substitution
Events of Base Excision Repair
Step 1: DNA repair enzymes recognize defective bases and remove them
Step 2: Other DNA repair enzymes fix the AP site
AP Sites
Places in DNA missing a base
Apurinic or apyrimidinic
The Timing of Base Excision Repair
Prompt repair of the lesion will stop a mutation from occurring
Delayed repair of the lesion will cause a mutation
Replication Slippage at Repeat DNA
If DNA pol falls off while in a repeat then the strands anneal incorrectly and when DNA pol returns loops form
If daughter strand loops out = insertion of base pairs
If template strand loops out = deletion of base pairs