The Cause of Mutations
Mutations are a random occurrence during DNA replication and the rate of mutation is influenced by external factors such as UV radiation. Mutation occurs spontaneously.
There are different types of mutation:
1. Deletion where one or more nucleotide bases are deleted. AGTCA becomes AGCA
2. Substitution where one or more nucleotide bases are replaced by others. AGTCA becomes AGTCG
3. Addition where one or more nucleotide bases are added as extra. AGTCA becomes ATGTCA
4. Inversion where a section of DNA is inverted e.g. AGTTCATTCCAGG becomes AGTTCCCTTAAGG
5. Duplication where one or more nucleotide bases are repeated e.g. AAGTCG becomes AAGTCGAAGTCG
6. Translocation where one or more nucleotide bases are moved between non-homologous chromosomes e.g. AAGCTT on human chromosome 1 is moved and becomes AAGCTT on human chromosome 3
The Effect of Mutations
Since the genetic code is degenerate, it’s possible that a mutation won’t have any effect whatsoever! This represents silent mutations. If 2 different triplet codes translate into the same amino acid, the polypeptide chain will remain unchanged. This of course only applies to substitutions.
Another scenario where a mutation may cause no effect is if it arises in an intron. Since these are removed before mRNA is translated, no mutations would be carried along.
What happens if a base is deleted or added? The genetic code is non-overlapping, so the error cannot simply be overlooked and the following triplets read correctly. The entire subsequent code will be shifted. This is called a frameshift.
Deletion: AGT GGC TTA… –> lose the first G –> ATG GCT TA…
Insertion: AGT GGC TTA… –> insert an A after the first A –> AAG TGG CTT A…
The code is affected significantly!!! In fact, it may be totally ruined. One way this can happen is by a nonsense mutation which by a frameshift causes the code to arrive at a stop codon earlier than it’s supposed to. This will result in a shorter polypeptide and therefore truncated protein which may malfunction.
A missense mutation is when a substitution changes the amino acid encoded. This does not necessarily impact the overall protein, but it may result in a protein with an altered binding site and therefore affect its activity.