Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
17220170
TITLE
The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence.
ABSTRACT
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 2393 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.
DATE PUBLISHED
2007 Mar 15
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2007/01/12
pubmed 2007/01/16 09:00
medline 2007/06/07 09:00
entrez 2007/01/16 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Mekel-Bobrov N Mekel-Bobrov Nitzan N Department of Human Genetics, Howard Hughes Medical Institute, University of Chicago, Chicago, IL 60637, USA.
Posthuma D Posthuma Danielle D
Gilbert SL Gilbert Sandra L SL
Lind P Lind Penelope P
Gosso MF Gosso M Florencia MF
Luciano M Luciano Michelle M
Harris SE Harris Sarah E SE
Bates TC Bates Timothy C TC
Polderman TJ Polderman Tinca J C TJ
Whalley LJ Whalley Lawrence J LJ
Fox H Fox Helen H
Starr JM Starr John M JM
Evans PD Evans Patrick D PD
Montgomery GW Montgomery Grant W GW
Fernandes C Fernandes Croydon C
Heutink P Heutink Peter P
Martin NG Martin Nicholas G NG
Boomsma DI Boomsma Dorret I DI
Deary IJ Deary Ian J IJ
Wright MJ Wright Margaret J MJ
de Geus EJ de Geus Eco J C EJ
Lahn BT Lahn Bruce T BT
INVESTIGATORS
JOURNAL
VOLUME: 16
ISSUE: 6
TITLE: Human molecular genetics
ISOABBREVIATION: Hum. Mol. Genet.
YEAR: 2007
MONTH: Mar
DAY: 15
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 0964-6906
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Hum Mol Genet
COUNTRY: England
ISSNLINKING: 0964-6906
NLMUNIQUEID: 9208958
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
CZB/4/505 Chief Scientist Office United Kingdom
ETM/55 Chief Scientist Office United Kingdom
S18386 Biotechnology and Biological Sciences Research Council United Kingdom
Wellcome Trust United Kingdom
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Adult
Alleles
Biological Evolution
Brain metabolism
Child metabolism
Evolution, Molecular metabolism
Family metabolism
Female metabolism
Genotype metabolism
Humans metabolism
Intelligence genetics
Male genetics
Microcephaly genetics
Molecular Biology genetics
Nerve Tissue Proteins genetics
Organ Size genetics
Polymorphism, Single Nucleotide genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 ASPM protein, human
0 MCPH1 protein, human
0 Nerve Tissue Proteins
OTHER ID's