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Microcephalin, a Gene Regulating Brain Size, Continues to Evolve Adaptively in Humans
Patrick D. Evans,1,2Sandra L. Gilbert,1Nitzan Mekel-Bobrov,1,2Eric J. Vallender,1,2Jeffrey R. Anderson,1Leila M. Vaez-Azizi,1Sarah A. Tishkoff,4Richard R. Hudson,3Bruce T. Lahn1*
The gene Microcephalin (MCPH1) regulates brain size and hasevolved under strong positive selection in the human evolutionarylineage. We show that one genetic variant of Microcephalin inmodern humans, which arose 37,000 years ago, increased in frequencytoo rapidly to be compatible with neutral drift. This indicatesthat it has spread under strong positive selection, althoughthe exact nature of the selection is unknown. The finding thatan important brain gene has continued to evolve adaptively inanatomically modern humans suggests the ongoing evolutionaryplasticity of the human brain. It also makes Microcephalin anattractive candidate locus for studying the genetics of humanvariation in brain-related phenotypes.
1 Howard Hughes Medical Institute, Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA. 2 Committee on Genetics, University of Chicago, Chicago, IL 60637, USA. 3 Department of Ecology and Evolution, University of Chicago, Chicago, IL 60637, USA. 4 Department of Biology, University of Maryland, College Park, MD 20742, USA.
* To whom correspondence should be addressed. E-mail: blahn{at}bsd.uchicago.edu
Nitzan Mekel-Bobrov and Bruce T. Lahn (24 August 2007) Science317 (5841), 1036b.
[DOI: 10.1126/science.1143658] |Abstract »|Full Text »|PDF »
TECHNICAL COMMENTS
Nitzan Mekel-Bobrov, Patrick D. Evans, Sandra L. Gilbert, Eric J. Vallender, Richard R. Hudson, and Bruce T. Lahn (14 July 2006) Science313 (5784), 172b.
[DOI: 10.1126/science.1122822] |Abstract »|Full Text »|PDF »
NEWS OF THE WEEK
Michael Balter (9 September 2005) Science309 (5741), 1662.
[DOI: 10.1126/science.309.5741.1662] |Summary »|Full Text »|PDF »
BREVIA
Toshiyuki Hayakawa, Takashi Angata, Amanda L. Lewis, Tarjei S. Mikkelsen, Nissi M. Varki, and Ajit Varki (9 September 2005) Science309 (5741), 1693.
[DOI: 10.1126/science.1114321] |Abstract »|Full Text »|PDF »|Supporting Online Material »
REPORTS
Nitzan Mekel-Bobrov, Sandra L. Gilbert, Patrick D. Evans, Eric J. Vallender, Jeffrey R. Anderson, Richard R. Hudson, Sarah A. Tishkoff, and Bruce T. Lahn (9 September 2005) Science309 (5741), 1720.
[DOI: 10.1126/science.1116815] |Abstract »|Full Text »|PDF »|Supporting Online Material »
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37,000 years ago, increased in frequency too rapidly to be compatible with neutral drift. This indicates that it has spread under strong positive selection, although the exact nature of the selection is unknown. The finding that an important brain gene has continued to evolve adaptively in anatomically modern humans suggests the ongoing evolutionary plasticity of the human brain. It also makes Microcephalin an attractive candidate locus for studying the genetics of human variation in brain-related phenotypes. 
