Human Molecular Genetics Advance Access published online on January 12, 2007
Human Molecular Genetics, doi:10.1093/hmg/ddl487
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© The Author 2007. Published by Oxford University Press. All rights reserved
The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence
,*1 Howard Hughes Medical Institute, Department of Human Genetics 2 Committee on Genetics, University of Chicago, Chicago, IL 60637, USA 3 Department of Biological Psychology 4 Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit, Amsterdam, The Netherlands 5 Queensland Institute of Medical Research, Brisbane, Australia 6 Section of Medical Genomics, Department of Clinical Genetics and Anthropogenetics, Vrije Universiteit Medical Center, Amsterdam, The Netherlands 7 Department of Psychology, University of Edinburgh, UK 8 Department of Mental Health, University of Aberdeen, Clinical Research Centre, Royal Cornhill Hospital, Aberdeen, UK 9 Department of Geriatric Medicine, University of Edinburgh, Royal Victoria Hospital, Edinburgh, UK 10 Department of Child and Adolescent Psychiatry Erasmus MC – Sophia, Rotterdam, The Netherlands
* To whom correspondence should be addressed: BTL: Tel: 773-834-4393; Fax: 773-834-8470; Email: blahn{at}bsd.uchicago.edu. DP: Tel: 31-20-5988814; Fax: 31-20-5988832; Email: edanielle{at}psy.vu.nl
Received November 29, 2006; Revised January 3, 2007; Accepted January 3, 2007
Recent studies have made great strides towards identifying putative genetic events underlying the evolution of the human brain and its emergent cognitive capacities. One of the most intriguing findings is the recurrent identification of adaptive evolution in genes associated with primary microcephaly, a developmental disorder characterized by severe reduction in brain size and intelligence, reminiscent of the early hominid condition. This has led to the hypothesis that the adaptive evolution of these genes has contributed to the emergence of modern human cognition. As with other candidate loci, however, this hypothesis remains speculative due to the current lack of methodologies for characterizing the evolutionary function of these genes in humans. Two primary microcephaly genes, ASPM and Microcephalin, have been implicated not only in the adaptive evolution of the lineage leading to humans, but in ongoing selective sweeps in modern humans as well. The presence of both the putatively adaptive and neutral alleles at these loci provides a unique opportunity for using normal trait variation within humans to test the hypothesis that the recent selective sweeps are driven by an advantage in cognitive abilities. Here, we report a large-scale association study between the adaptive alleles of these genes and normal variation in several measures of IQ. Five independent samples were used, totaling 2,393 subjects, including both family-based and population-based datasets. Our overall findings do not support a detectable association between the recent adaptive evolution of either ASPM or Microcephalin and changes in IQ. As we enter the post-genomic era, with the number of candidate loci underlying human evolution growing rapidly, our findings highlight the importance of direct experimental validation in elucidating their evolutionary role in shaping the human phenotype.
The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.
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