bio lecture 11. mutation

bio lecture 11. mutation - Mutation Dr Mark Holbrook...

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1 Mutation Dr. Mark Holbrook Mutation Definition Mutagens Effects of mutation Changes in DNA Defenses (e.g., proofreading, repair) Mutation Changes in the genetic material: Chromosome changes: o 50% of spontaneous human abortions o Down syndrome (extra chromosome 21) Smaller changes in DNA: o Uncorrected errors in replication o Caused by mutagens
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2 Mutagens (agents that generate mutations) Radiation that reacts with DNA: X-rays, cosmic rays Ultraviolet light Chemicals: Analogs of nucleotide bases Intercalators (insert into and distort DNA) Agents that damage (oxidize) bases Agents in cigarette smoke 3 rd -hand smoke (on surfaces) causes disease Sleiman et al 2010 PNAS; 107(15):6576-81. The effects of mutation (1) Mutations cause changes in DNA Altered product Function altered or absent Biological consequences depend upon normal function of the product: o Non-vital o Vital (essential) The effects of mutations (2) Somatic cells vs. germ cells o Mutations in somatic cells Disease (e.g., cancer) o Mutation in germ cells Heritable disease (e.g., Alkaptonuria)
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