The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence.

N. Mekel-Bobrov, D. Posthuma, S.L. Gilbert, P. Lind, M.F. Gosso, M. Luciano, S.E. Harris, T.C. Bates, T.J.C. Polderman, L.J. Whalley, H. Fox, J.M. Starr, P.D. Evans, GW Montgomery, C. Fernandes, P. Heutink, N.G. Martin, D.I. Boomsma, I.J. Deary, M.J. Wright & 2 others E.J.C. de Geus, B.T. Lahn

Research output: Contribution to JournalArticleAcademicpeer-review

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. © 2007 Oxford University Press.
Original languageEnglish
Pages (from-to)600-608
JournalHuman Molecular Genetics
Volume16
Issue number6
DOIs
Publication statusPublished - 2007

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Intelligence
Microcephaly
Genes
Alleles
Aptitude
Hominidae
Brain
Cognition
Phenotype
Population

Cite this

Mekel-Bobrov, N. ; Posthuma, D. ; Gilbert, S.L. ; Lind, P. ; Gosso, M.F. ; Luciano, M. ; Harris, S.E. ; Bates, T.C. ; Polderman, T.J.C. ; Whalley, L.J. ; Fox, H. ; Starr, J.M. ; Evans, P.D. ; Montgomery, GW ; Fernandes, C. ; Heutink, P. ; Martin, N.G. ; Boomsma, D.I. ; Deary, I.J. ; Wright, M.J. ; de Geus, E.J.C. ; Lahn, B.T. / The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence. In: Human Molecular Genetics. 2007 ; Vol. 16, No. 6. pp. 600-608.
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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. {\circledC} 2007 Oxford University Press.",
author = "N. Mekel-Bobrov and D. Posthuma and S.L. Gilbert and P. Lind and M.F. Gosso and M. Luciano and S.E. Harris and T.C. Bates and T.J.C. Polderman and L.J. Whalley and H. Fox and J.M. Starr and P.D. Evans and GW Montgomery and C. Fernandes and P. Heutink and N.G. Martin and D.I. Boomsma and I.J. Deary and M.J. Wright and {de Geus}, E.J.C. and B.T. Lahn",
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Mekel-Bobrov, N, Posthuma, D, Gilbert, SL, Lind, P, Gosso, MF, Luciano, M, Harris, SE, Bates, TC, Polderman, TJC, Whalley, LJ, Fox, H, Starr, JM, Evans, PD, Montgomery, GW, Fernandes, C, Heutink, P, Martin, NG, Boomsma, DI, Deary, IJ, Wright, MJ, de Geus, EJC & Lahn, BT 2007, 'The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence.' Human Molecular Genetics, vol. 16, no. 6, pp. 600-608. https://doi.org/10.1093/hmg/ddl487

The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence. / Mekel-Bobrov, N.; Posthuma, D.; Gilbert, S.L.; Lind, P.; Gosso, M.F.; Luciano, M.; Harris, S.E.; Bates, T.C.; Polderman, T.J.C.; Whalley, L.J.; Fox, H.; Starr, J.M.; Evans, P.D.; Montgomery, GW; Fernandes, C.; Heutink, P.; Martin, N.G.; Boomsma, D.I.; Deary, I.J.; Wright, M.J.; de Geus, E.J.C.; Lahn, B.T.

In: Human Molecular Genetics, Vol. 16, No. 6, 2007, p. 600-608.

Research output: Contribution to JournalArticleAcademicpeer-review

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AU - Posthuma, D.

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AU - Lind, P.

AU - Gosso, M.F.

AU - Luciano, M.

AU - Harris, S.E.

AU - Bates, T.C.

AU - Polderman, T.J.C.

AU - Whalley, L.J.

AU - Fox, H.

AU - Starr, J.M.

AU - Evans, P.D.

AU - Montgomery, GW

AU - Fernandes, C.

AU - Heutink, P.

AU - Martin, N.G.

AU - Boomsma, D.I.

AU - Deary, I.J.

AU - Wright, M.J.

AU - de Geus, E.J.C.

AU - Lahn, B.T.

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