What is a gene mutation?
What can be mutagenic?
tar, ionising radiation such as UV light, X-rays and gamma rays
What are the 2 main classes of DNA mutations?
What are the 3 types of substitution mutation?
Silent mutation
Missense mutation
-alters a single amino acid in polypeptide chain eg. sickle cell anaemia
- effect on protein produced
- change in tertiary structure + alters the shape
sickle cell anaemia
Nonsense mutation
creates a premature stop codon
causes incompletion of polypeptide chain
affects tertiary structure and function
eg. cystic fibrosis
What are the 3 main ways that a mutation in the DNA base sequence can occur?
Insertion
Deletion
Substitution
Insertion mutation
mutation that occurs when a nucleotide is randomly inserted into the DNA sequence
- changes the amino acid that would have been coded for by the original base triplet, as it creates a new, different triplet of bases
- insertion mutation also has a knock-on effect by changing the triplets further on in the DNA sequence (frameshift mutation)
- may change the amino acid sequence produced from this gene + the ability of the polypeptide to function
Frameshift mutation
Deletion of nucleotides
Substitution of nucleotides
mutation that occurs when a base in the DNA sequence is randomly swapped for a different base.
Beneficial mutation
Harmful Mutation
By altering a polypeptide, some mutations can lead to altered characteristic in an organism that causes harmful effects for the organism
Neutral mutations
offer no selective advantage/disadvantage to the individual organism
Why could neutral mutations occur? (3)
Nucleus
same genes
HOWEVER NOT EVERY GENE IS EXPRESSED
not all these genes are expressed all the time
Regulatory mechanisms
-several mechanisms that exist within cells to make sure the correct genes are expressed in the correct cell
- control which genes are expressed at diff points in time
What are the 3 main types of regulatory mechanisms?
regulation at the transcriptional level (reg. mechs that occur…)
regulation at the post-transcriptional level
regulation at the post-translational level
What are regulatory mechanisms controlled by?
many diff regulatory genes
Structural gene
codes for a protein that has a function within a cell eg. enzyme
Regulatory gene
code for proteins that control the expression of structural genes
-control structural genes + their levels of protein production
What is the lac operon an example of?
a regulatory mechanism at the transcriptional level