Recently-derived variants of brain-size genes ASPM, MCPH1, CDK5RAP and BRCA1 not associated with general cognition, reading or language

Bates, Timothy C., Luciano, Michelle, Lind, Penelope A., Wright, Margaret J., Montgomery, Grant W. and Martin, Nicholas G. (2008) Recently-derived variants of brain-size genes ASPM, MCPH1, CDK5RAP and BRCA1 not associated with general cognition, reading or language. Intelligence, 36 6: 689-693. doi:10.1016/j.intell.2008.04.001


Author Bates, Timothy C.
Luciano, Michelle
Lind, Penelope A.
Wright, Margaret J.
Montgomery, Grant W.
Martin, Nicholas G.
Title Recently-derived variants of brain-size genes ASPM, MCPH1, CDK5RAP and BRCA1 not associated with general cognition, reading or language
Formatted title
Recently-derived variants of brain-size genes ASPM, MCPH1, CDK5RAP and BRCA1 not associated with general cognition, reading or language
Journal name Intelligence   Check publisher's open access policy
ISSN 0160-2896
1873-7935
Publication date 2008-11
Sub-type Article (original research)
DOI 10.1016/j.intell.2008.04.001
Open Access Status Not yet assessed
Volume 36
Issue 6
Start page 689
End page 693
Total pages 5
Place of publication London, United Kingdom
Publisher Elsevier
Language eng
Formatted abstract
Derived changes in genes associated with primary microcephaly (MCPH) have been suggested to be "currently sweeping to fixation" i.e., increasing in frequency in most populations, with the likely outcome that the derived allele will completely displace the ancestral allele over time. Possible causes for this sweep include effects on human reasoning and language. Here we test the hypothesis that these derived alleles are associated with current variation in spoken or written language and related traits. The association of derived alleles of the ASPM, MCPH1, CDK5RAP2 and BRCA1 genes was tested against well-validated measures of dyslexia, specific language impairment, working memory, IQ, and head-size in a family-based association study of over 1776 subjects from 789 families of twins. No evidence for association was found for any gene to any trait. The results strongly did not support the hypothesis that derived alleles in MCPH-related genes are related to the evolution of human language or cognition. Results were compatible with the alternate hypothesis, suggesting that adaptations in these genes associated with a dramatic increase in brain size have long since reached fixation and are now maintained by stabilizing selection. 
Keyword ASPM
Brain size
Dyslexia
Evolution
Intelligence
Language impairment
Reading
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
 
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