What is a mutation?
a change in the base sequence of DNA
What are the types of mutations?
substitution -silent -mis-sense -non-sense frame shift -insertion -deletion
What is a substitution mutation?
a mutation where one base is replaced by another
-can change the amino acid or it could stay the same
What is a silent mutation?
a mutation where different codons code for the same amino acid (degenerate code)
What is a mis-sense mutation?
a mutation where a different amino acid is coded for
-could cause issues or could do nothing
What is a non-sense mutation?
a mutation where a stop codon is part way through a sequence of bases, resulting in a shortened polypeptide
What is a frame shift mutation?
a mutation where every amino acid after the mutation changes
two types:
What is an insertion mutation?
a mutation where an additional base is added to the sequence
What is a deletion mutation?
a mutation where there is a missing base in the sequence
What is a point mutation?
a mutation where only 1 base changes
What is an inversion mutation?
a mutation where a sequence of bases is reversed, resulting in one amino acid changing
What effects can mutations have?
What is a mutagen?
a chemical, physical or biological agent that causes a mutation
eg. UV light, viruses, etc
What are house keeping genes?
genes that control metabolic processes
What are tissue specific genes?
genes which have specific roles in specific tissue proteins
-turn genes on and off
What are the types of gene regulation?
What is epigenetics?
environment affecting gene regulation
What happens in transcriptional gene regulation in eukaryotes?
chromatin remodelling aka histone modification
What is the structure of a chromatin?
DNA is coiled around histones (proteins)
What does acetylation do to DNA (in histone modification)?
- translation occurs
What does methylation do to DNA (in histone modification)?
- no translation occurs
What happens in transcriptional gene regulation in prokaryotes?
LAC operon
-glucose or lactose can be used as a respiratory substrate…
GLUCOSE
-regulatory gene produces a repressor protein, which binds to the operator, blocking the promotor
-RNA polymerase can’t bind to promotor so there is no transcription of structural genes (prevents energy waste as structural genes aren’t needed for glucose)
LACTOSE (used when glucose is in short supply)
-lactose binds to repressor protein, which changes its tertiary structure (+ shape), meaning it can’t bind to the operator anymore
-RNA can bind to promotor so transcription of structural genes can occur
-structural genes code for enzymes:
-lac Z codes for β galactose (splits lactose into glucose and galactose)
-lac Y codes for lactose permease (increases e.coli’s permeability to lactose so it can absorb more)
-lac A codes for transacetylase (adds an acetyl group)
What is an operon?
a group of genes under the control of the same regulatory gene
What genes are in the LAC operon?