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Lecture 10

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BIOL 2040
Motti Anafi

BIOL 2040 Lecture 10 Human Genetics Consequences of mutations  Gain of function o Increases activity of the protein encoded by the mutated gene o Overexpression of the protein o Inappropriate expression (wrong place, wrong time)  Loss of function o Decreases activity of the protein encoded by the mutated gene o Not enough protein production Genetic Mutations  Somatic mutations o Mutations are of the cells other than gametes (is not inheritable) o Will not be passed on  85% of cancer is this type o Mutations often kill the cells o Make the cell cancerous o When the cell dies, so does the mutation  Germline Mutations o They will be found in every cell descended from the zygote to which that mutant gene contributed o If an adult is produced, EACH CELL WILL CONTAIN THIS MUTATION o Included with these mutated genes is the passing on of these genes Why do Meiotic errors occur?  They appear to be accidental but the age of the mother seems to have an effect on the magnitude of errors How do Mistakes Occur?  The spindle fibre must try and find the centromeres perfectly  What are the odds of such an error? o Sometimes there can be too many chromosomes taken into one gametic cell (3:1 ratio of chromosomes instead of 2:2)  “Abnormal chromosome #”  Called nondisjunction  Pairs of homologous chromosomes don’t separate normally during meiosis (contain 2 or no copies of a certain
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