Mutations
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Name 6 types of mutations
• substitutions • deletions • insertions • inversions • transpositions • chromosomal
What are substitutions?
When one base is replaced with another
Name 4 different types of substitution mutations
• Synonymous - produce same amino acid • Non-synonymous - produce different amino acid • Nonsense - stop codon produced causing truncation • Readthrough - causes extension
What does 1/2 nucleotide loss/addtion result in?
Frameshift mutation where coding region from that point forward is changed
Name 3 different types of insertions/deletions and their consequences
• Deletion of regulatory sequence - causes uncontrolled transcription • Deletion of core promoter - results in no transcription • Duplications - can cause expression to double/triple, copy can accumulate mutations causing a pseudogene (pseudogenisation) or can remain functional and adopt a different action (neofunctionalisation)
What are inversions?
180 degree rotation of a segment of a gene, function can be maintained if breakpoint is outside of the gene
What is transposition?
When a segment of DNA moves to a new position either on a closeby or to a non-homologous chromosome. This can be reciprocal or non-reciprocal. Transposable elements can insert themselves on to different positions on a gene