What is a mutation?
A random change in the nucleotide base sequence within the DNA molecule
What 3 things could happen to the base sequence/
Why might a mutation in a gene not lead to a different primary structure?
The genetic code is degenerate (many amino acids coded for by more than one codon)
What increases the rate at which mutations occur?
Mutagens (chemical, physical, biological agents)
Give examples and effects of physical mutagens
Ionizing radiations (e.g. X-rays/gamma rays/UV)
Break one/both strands of DNA causing mutations
Give examples and effects of chemical mutagens
Deanimating agents
Alter bases in DNA, altering the base sequence
Give examples of biological agents
Alkylating agents - Methyl/ethyl groups attached to bases, leading to incorrect pairing of bases during replication
Base analogs - incorporated into DNA instead of usual base during replication, changing the base sequence
Viruses - viral DNA inserts itself into the genome, changing the base sequence
What is a point mutation?
When a single base pair is changed
What is a substitution mutation?
One base pair replaced for another (usually leads to a single, different amin acid being inserted during translation)
What is a deletion mutation?
A base pair is lost from the DNA sequence, causing a frame shift (Every codon ‘down stream’ is different)
What is an insertion/addition mutation?
An extra base pair is inserted into the DNA sequence, causing a frame shift (Every codon ‘down stream’ is different)
What is a mis-sense effect on an amino acid sequence?
Where one nucleotide base is substituted with another meaning one amino acid in the sequence is incorrect
What is a nonsense effect on an amino acid sequence?
Where one base is substituted with another causing a stop codon to be created
What is a silent effect on an amino acid sequence?
Subsitution occues but has no effect on the amino acid due to the degenerate nature of the code (usually the 3rd base)
Why can mutations have no effect on phenotype as a normally functioning protein is made?
What damaging effects can mutations have on proteins?
What beneficial effect can mutations have on proteins?
A protein has new and useful characteristics (this drives natural selection)
What is a chromosome mutation?
A mutation affecting the whole chromosome or a number of chromosomes within a cell (casued by mutagens)
Name and describe the 4 types of chromosome mutation
Deletion - A section of chromosome breaks off and is lost
Duplication - Sections on a chromosome are duplicated
Translocation - A section of one chromsome breaks off and joins another chromosome
Inversion - A section of a chromosome breaks off, is reversed and joins back onto the chromosome
What are housekeeping genes?
Genes that code for enzymes needed for reactions in metabolic pathways (e.g. respiration) and are needed constantly
What are tissue specific genes?
Genes that code for protein based hormones that are only required by certain cels at certain times
What is gene regulation?
When genes are turned on/off and the rate of protein synthesis is changed according to demand
What is transcriptional gene regulation?
Genes being turned on/off
What is post-transcriptional gene regulation?
mRNA modified which regulates translation + the types of protein produced