presentation_24 - 1 Lecture 24 Human genetics Overall...

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Unformatted text preview: 1 Lecture 24 Human genetics Overall sequence divergence is 1.23% in single nucleotide substitutions in orthologous genes. X Y Divergence between humans and chimps autosomes 2 Orthologous vs. paralogous genes gene duplication speciation sp. A sp. B Gene 1 2 1’ 2’ orthologous: 1 vs. 1’; 2 vs. 2’ Paralogous: 1 vs. 2’; 1’ vs. 2 Orthologous proteins are generally very similar. 29% are identical b/w human and chimp! Single nucleotide substitutions 3 Other sources of divergence • Chromosome rearrangements • Insertions & deletions • Transposable elements • Regulatory sequences Chromosome changes- Chimps, gorillas & orangu- tans have 24 chromosomes while humans have 23.- numerous inversions. 4 Insertions & deletions ! = ~4% often found in genic sequences Subst. Indels Total Region Length Chrom. % % % (bp) Human-chimp divergence in sample regions In chimp, not human; in human, not chimp Transposable elements Size distribution of short indels 5 Size distribution of long indels # deletions Total # bases (Mb) Deletion size (kb) Transposable elements • Elevated rates of transposition in human lineage (also in baboons) relative to chimps (~7000 vs. 2,300 copies of Alu in humans vs. chimps). • Two new classes of Alu sequences....
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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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presentation_24 - 1 Lecture 24 Human genetics Overall...

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