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presentation_24 - Lecture 24 Human genetics Divergence...

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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
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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
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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.
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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
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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. Human genome ~1% larger than chimps.
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6 Divergence specific to regulatory sequences Compared transcription factor binding sites (TFBS) b/w human, chimp & mouse.
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