Ongoing Adaptive Evolution of ASPM, a Brain Size Determinant in Homo sapiens

@article{MekelBobrov2005OngoingAE,
  title={Ongoing Adaptive Evolution of ASPM, a Brain Size Determinant in Homo sapiens},
  author={Nitzan Mekel-Bobrov and Sandra L. Gilbert and Patrick Evans and Eric J. Vallender and Jeffrey R. Anderson and Richard R. Hudson and Sarah A. Tishkoff and Bruce T. Lahn},
  journal={Science},
  year={2005},
  volume={309},
  pages={1720 - 1722}
}
The gene ASPM (abnormal spindle-like microcephaly associated) is a specific regulator of brain size, and its evolution in the lineage leading to Homo sapiens was driven by strong positive selection. Here, we show that one genetic variant of ASPM in humans arose merely about 5800 years ago and has since swept to high frequency under strong positive selection. These findings, especially the remarkably young age of the positively selected variant, suggest that the human brain is still undergoing… Expand

Topics from this paper

Comment on "Ongoing Adaptive Evolution of ASPM, a Brain Size Determinant in Homo sapiens" and "Microcephalin, a Gene Regulating Brain Size, Continues to Evolve Adaptively in Humans"
TLDR
It is shown that models of human history that include both population growth and spatial structure can generate the observed patterns without selection. Expand
Comment on "Ongoing Adaptive Evolution of ASPM, a Brain Size Determinant in Homo sapiens"
TLDR
When ASPM is compared empirically to a large number of other loci, its variation is not unusual and does not support selection. Expand
Response to Comment on "Ongoing Adaptive Evolution of ASPM, a Brain Size Determinant in Homo sapiens" and "Microcephalin, a Gene Regulating Brain Size, Continues to Evolve Adaptively in Humans"
TLDR
Computer simulations are presented to argue that the haplotype structure found at the microcephalin and ASPM genes can be better explained by demographic history rather than by selection. Expand
Cytoskeletal genes regulating brain size.
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Recent investigations of congenital microcephaly in humans have resulted in the identification of several genes that non-redundantly and specifically influence mammalian brain size through microtubular organisation at the centrosome. Expand
MCPH , a disorder of neurogenic mitosis affecting foetal brain growth
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Microcephaly genes evolved adaptively throughout the evolution of eutherian mammals
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Extensive evidence for positive selection having acted on the majority of microcephaly loci not just in primates but also across non-primate mammals is found, suggesting that ASPM and CDK5RAP2 may have had a consistent role in the evolution of brain size in mammals. Expand
Evolution of ASPM coding variation in apes and associations with brain structure in chimpanzees
TLDR
The degree of coding variation at ASPM is characterized in a large sample of chimpanzees, and potential associations between genotype and various measures of brain morphology are examined, suggesting ASPM variation might play a role in shaping natural variation in brain structure in nonhuman primates. Expand
ASPM and the Evolution of Cerebral Cortical Size in a Community of New World Monkeys
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The results suggest that a multitude of interacting genes have driven the evolution of larger brains among primates, with different genes involved in this process in different encephalized lineages, or at least with evidence for positive selection not readily apparent for the same genes in all lineages. Expand
Phylogenetic Analysis of ASPM, a Major Contributor Gene of Microcephaly
TLDR
Bioinformatics analysis includes syntenic relationship of ASPM and its phylogenetic studies with reference to various selected orthologs revealed information about conservation of genes among different ortholog species and their evolutionary relationship. Expand
Molecular evolution of the brain size regulator genes CDK5RAP2 and CENPJ.
TLDR
The evolutionary patterns of all four presently known primary microcephaly genes are consistent with the hypothesis that genes regulating brain size during development might also play a role in brain evolution in primates and especially humans. Expand
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