BIOL 3P50 Lecture Notes - Lecture 14: Craig Venter, Human Genome Project, Regulatory Sequence
1 Sep 2015
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Lecture 12 - the mutability and repair of dna. * individual genomes differ in millions of ways. * some affect phenotype by producing normal range of genetically determined variation. * cause disease or make an individual susceptible to a disease. * mutation is the ultimate source of genetic variation. * craig venter (celera) vs. human genome project reference sequence (composite of anonymous donors) * 290,000 heterozygous insertion/deletion variants (1 571 bp) * 559,000 homozygous insertion/deletion variants (1 82,711 bp) * 44% of venter"s genes had a sequence variant and 17% encoded an altered protein. * similar variation observed in james watson"s genome. * damage to the chemical structure of dna. * permanent change to the dna sequence (mutation) * structural change that prevents dna template from being used for replication and transcription (lesion) * transitions are pyrimidine to pyrimidine or purine to purine substitutions. * transversions are pyrimidine to purine (or vice versa) substitutions.
