oct 9 - Fig 7.6 2 Xeroderma pigmentosum Defective excision...

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Mutation and repair 10/9/06 Major ideas: 1. Mutations are a change in the primary sequence of the DNA (genotype). 2. Types of changes in the DNA include substitutions, transversions, insertions, deletions, inversions. 3. Mutations may be caused by chemicals (mutagens), ultraviolet light or X-rays, oxidizing agents, physical damage to the DNA, or errors in replication. 4. Most cells have a variety of mechanisms to repair damage or changes in the DNA sequence. 5. You should know the major types of mutations, their causes, and the way the cells repair the damage.
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1 5’TCTCGCATGGTAGGT 3’ 3’AGAGCGTACCATCCA 5’
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Unformatted text preview: Fig. 7.6 2 Xeroderma pigmentosum Defective excision repair 7 repair genes identified: XPA - XPG XPA: open complex formation XPB and XPD assist in open complex XPC is involved in sensing damage XPG and XPF function as endo nucleases Polymerase fills in the gap Other DNA repair defect diseases • Ataxia telangiectasia- mismatch repair • Fanconi anemia- at least 7 genes • Cockayne syndrome- transcription coupled repair, 2 genes that encode for proteins that interact with transcription machinery and DNA repair protein • These are autosomal recessive diseases...
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