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SUMMARY:Journal Club: Human-specific loss of regulatory DNA and the evolut
 ion of human-specific traits - Toomas Kivisild
DTSTART:20110505T120000Z
DTEND:20110505T130000Z
UID:TALK29579@talks.cam.ac.uk
CONTACT:Simon Baxter
DESCRIPTION:NATURE | VOL 471 | 10 MARCH 2011 \n\nhttp://www.nature.com/nat
 ure/journal/v471/n7337/abs/nature09774.html\n\nHumans differ from other an
 imals in many aspects of anatomy\, physiology\, and behaviour\; however\, 
 the genotypic basis of most human-specific traits remains unknown1. Recent
  whole-genome comparisons have made it possible to identify genes with ele
 vated rates of amino acid change or divergent expression in humans\, and n
 on-coding sequences with accelerated base pair changes2\, 3\, 4\, 5. Regul
 atory alterations may be particularly likely to produce phenotypic effects
  while preserving viability\, and are known to underlie interesting evolut
 ionary differences in other species6\, 7\, 8. Here we identify molecular e
 vents particularly likely to produce significant regulatory changes in hum
 ans: complete deletion of sequences otherwise highly conserved between chi
 mpanzees and other mammals. We confirm 510 such deletions in humans\, whic
 h fall almost exclusively in non-coding regions and are enriched near gene
 s involved in steroid hormone signalling and neural function. One deletion
  removes a sensory vibrissae and penile spine enhancer from the human andr
 ogen receptor (AR) gene\, a molecular change correlated with anatomical lo
 ss of androgen-dependent sensory vibrissae and penile spines in the human 
 lineage9\, 10. Another deletion removes a forebrain subventricular zone en
 hancer near the tumour suppressor gene growth arrest and DNA-damage-induci
 ble\, gamma (GADD45G)11\, 12\, a loss correlated with expansion of specifi
 c brain regions in humans. Deletions of tissue-specific enhancers may thus
  accompany both loss and gain traits in the human lineage\, and provide sp
 ecific examples of the kinds of regulatory alterations6\, 7\, 8 and inacti
 vation events13 long proposed to have an important role in human evolution
 ary divergence.
LOCATION:First Floor Seminar Room\, Department of Zoology.
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