BIO 2306 Lecture Notes - Lecture 18: Germline Mutation, Chromosome, Neutral Mutation

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10 Mar 2018
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Source of gene variation if favorable, will be important in adaptation. Arise from: unequal crossing over, strand slippage. In-frame insertions and deletions: expanding trinucleotide repeats. # of copies of a trinucleotides increases in succeeding generations. # of copies correlates with severity of the disease of age of onset. Wild-type protein alters aa in protein alters sense codon does not alter aa to stop codon premature termination. Neutral mutation alters amino acid but does not affect function of protein. Loss-of-function mutation complete of partial absence of normal protein function. Conditional mutation mutant phenotype only expressed under certain (restrictive) conditions. Suppressor mutations hides effect of another mutation (restores wild-type) The rst mutation was in the gene that encoded a protein. The second mutation was in a gene that encoded trna. It is a suppressor because even though tyr is still a mutation of leu, the end result is still the same: a full-length, functional protein.

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