BIOB51H3 Lecture Notes - Lecture 8: Craig Venter, Lmbr1, Fibroblast Growth Factor Receptor

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Mutations: most are found, fixed and removed, others persist and become harmful or beneficial, mutation rate is low (human germline rate is 64 per generation, many occur in noncoding regions which are functionally neutral) Craig venter genome sequencing: created the first draft sequence of human genome (it was his genome, found 3. 2 million nucleotides that differed between his paired chromosomes. Examples: albinism fgfr3 serine to proline, polydactylism lmbr1 c-t transition, webbed digits gli3 proline to serine, piebaldism kit arginine to glycine, fibrodisplasial ossifications avcr1 arginine to histidine, progeria mutation in lamin a. In frame or frameshift mutations that usually lead to nonsense. Larger than single scale mutations: duplications, deletions, inversions, translocations. Cis -regulatory regions: near/within focal gene, upstream, downstream, intron (binding sites) Trans-regulatory regions: far away (different chromosomes or proteins, mirna) Effects of mutation: directly affect protein sequence change amino acid sequence, alter protein activity, efficiency, shape, affect protein function, no change in amino acid sequence.

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