Lecture24 - BioEE 278 Evolutionary Biology Fall 2007 Lecture 24 HUMAN GENETICS No textbook reading Section reading Palumbi S R 2001 Humans as the

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BioEE 278 Fall 2007 Evolutionary Biology Lecture 24 HUMAN GENETICS No textbook reading. Section reading: Palumbi S. R. 2001. Humans as the world’s greatest evolutionary force. Science 293:1786-1790. A. Comparison of the genomes of humans and chimps. 1. Human-chimp single nucleotide sequence divergence ~1.23% 2. Other sorts of differences. a. genome rearrangements b. insertions/deletions: ~4% divergence due to “indels” c. duplication of transposable elements: 1% increase in human genome d. regulatory sequences: genome wide comparison of transcription factor binding sites (mostly cis -regulatory elements) to identify sites lost in humans B. Potential effects of genetic differences 1. Nucleotide substitutions: depends on whether they are synonymous vs. non-synonymous 2. Genome rearrangements: no known effect; can influence recombination and gene expression 3. Insertions, deletions, and transposable elements: loss/gain of function, new genes or regulatory elements; ~50% of “indels” detected b/w humans and chimps are in genic regions. 4. Regulatory sequences: can have profound effects on gene expression patterns
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This note was uploaded on 09/28/2008 for the course BIOEE 2780 taught by Professor Geber during the Fall '07 term at Cornell University (Engineering School).

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