Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans.

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Evans, Patrick D; Gilbert, Sandra L; Mekel-Bobrov, Nitzan; Vallender, Eric J; Anderson, Jeffrey R; Vaez-Azizi, Leila M; Tishkoff, Sarah A; Hudson, Richard R; Lahn, Bruce T
Year of Publication: 2005
Journal: Science
Volume: 309
Issue: 5741
Pagination: 1717-20
Date Published: 09/2005
Publication Language: eng
ISSN: 1095-9203
Keywords: Adaptation, Biological, African Continental Ancestry Group, Alleles, Amino Acid Substitution, Asian Continental Ancestry Group, Biological Evolution, Brain, European Continental Ancestry Group, Exons, Gene Conversion, Gene Frequency, Genetic Variation, Genotype, Haplotypes, Humans, Linkage Disequilibrium, Microcephaly, Nerve Tissue Proteins, Organ Size, Polymorphism, Genetic, Recombination, Genetic, Selection, Genetic, Sequence Analysis, DNA, Time

The gene Microcephalin (MCPH1) regulates brain size and has evolved under strong positive selection in the human evolutionary lineage. We show that one genetic variant of Microcephalin in modern humans, which arose approximately 37,000 years ago, increased in frequency too rapidly to be compatible with neutral drift. This indicates that it has spread under strong positive selection, although the exact nature of the selection is unknown. The finding that an important brain gene has continued to evolve adaptively in anatomically modern humans suggests the ongoing evolutionary plasticity of the human brain. It also makes Microcephalin an attractive candidate locus for studying the genetics of human variation in brain-related phenotypes.

DOI: 10.1126/science.1113722
Alternate Journal: Science
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