The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Evolution of the Human ASPM Gene, a Major Determinant of Brain Size
Abstract
The size of human brain tripled over a period of ∼2 million years (MY) that ended 0.2–0.4 MY ago. This evolutionary expansion is believed to be important to the emergence of human language and other high-order cognitive functions, yet its genetic basis remains unknown. An evolutionary analysis of genes controlling brain development may shed light on it. ASPM (abnormal spindle-like microcephaly associated) is one of such genes, as nonsense mutations lead to primary microcephaly, a human disease characterized by a 70% reduction in brain size. Here I provide evidence suggesting that human ASPM went through an episode of accelerated sequence evolution by positive Darwinian selection after the split of humans and chimpanzees but before the separation of modern non-Africans from Africans. Because positive selection acts on a gene only when the gene function is altered and the organismal fitness is increased, my results suggest that adaptive functional modifications occurred in human ASPM and that it may be a major genetic component underlying the evolution of the human brain.
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Cites
Kimura, M. (1980) · Journal of Molecular Evolution · doi:10.1007/bf01731581 · Cited by 29,778
Molecular Evolution and Phylogenetics
Nei, M., & Kumar, S. (2000) · doi:10.1093/oso/9780195135848.001.0001 · Cited by 8,012
Hitchhiking Under Positive Darwinian Selection
Fay, J. C., & Wu, C.-I. (2000) · Genetics · doi:10.1093/genetics/155.3.1405 · Cited by 1,819
ASPM is a major determinant of cerebral cortical size
Bond, J., Roberts, E., Mochida, G. H., Hampshire, D. J., Scott, S., Askham, J. M., Springell, K., Mahadevan, M., Crow, Y. J., Markham, A. F., et al. (2002) · Nature Genetics · doi:10.1038/ng995 · Cited by 581
Cited by
Development of the human cerebral cortex: Boulder Committee revisited
Bystron, I., Blakemore, C., & Rakic, P. (2008) · Nature Reviews Neuroscience · doi:10.1038/nrn2252 · Cited by 977
Patterns of neural stem and progenitor cell division may underlie evolutionary cortical expansion
Kriegstein, A., Noctor, S., & Martínez-Cerdeño, V. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn2008 · Cited by 738
The evolutionary genetics of personality
Penke, L., Denissen, J. J. A., & Miller, G. F. (2007) · European Journal of Personality · doi:10.1002/per.629 · Cited by 610
Cortical Evolution: Judge the Brain by Its Cover
Geschwind, D. H., & Rakic, P. (2013) · Neuron · doi:10.1016/j.neuron.2013.10.045 · Cited by 519
Woods, C. G., Bond, J., & Enard, W. (2005) · The American Journal of Human Genetics · doi:10.1086/429930 · Cited by 431
Metadata
- Authors
- Zhang, J.
- Venue
- Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2003-12-01
- Volume
- 165
- Issue
- 4
- Pages
- 2063-2070
- ISSN
- 0016-6731 (ISSN-L)
- 1943-2631
- OpenAlex
- W2096220958
- Cited by
- 208
- References
- 4
- FWCI
- 105.00
- Type
- journal article
- Language
- en
- Open access
- closed
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