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29/1/20 Gene and Evolution -Mutation (Effects on Gene Expression (Loss-of…
29/1/20 Gene and Evolution
-Mutation
Effects on Gene Expression
Loss-of-function mutation
Result in the loss of a functional gene product
or loss of expression of the gene.
Hypomorphic mutation
Hypermorphic mutation
Gain-of-function mutation
Quantitative alteration in the activity of the gene
eg. loss of tissue specific expression( extopic expression)
Molecular basis of Mutation
A change in the base sequence of DNA
Rearrangement, insertion or deletion of DNA
sequences within the genome,
Mutation is most obvious when it result in the production of an abnormal phenotype ut this is not always evident.
Type of Mutations
Somatic
Producing an organism that is a genotypic
and phenotypie mosaic
Germ line
Mutations arising in cells that form gamates
Conditional mutations
Nucleotide Substitutions
Consequences of Mutations in
Reading Frames
Silent mutation
Missense mutations
Nonsense mutations
Frameshift Mutation
DNA Repair Mechanisms
Damage prevention
Damage reversal
Excision repair
Mismatch repair
Phenotypic Consequences of Mutation