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

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 si...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 2005-09, Vol.309 (5741), p.1720-1722
Main Authors: Mekel-Bobrov, Nitzan, Gilbert, Sandra L, Evans, Patrick D, Vallender, Eric J, Anderson, Jeffrey R, Hudson, Richard R, Tishkoff, Sarah A, Lahn, Bruce T
Format: Article
Language:English
Subjects:
Abnormalities
Adaptation, Biological
African Continental Ancestry Group
Alleles
Analysis
Animals
Asian Continental Ancestry Group - genetics
Biological and medical sciences
Biological Evolution
Bones
Brain
Brain - anatomy & histology
Brain - physiology
Brain size
Chromosomes
Craniofacial abnormalities
Earth sciences
Earth, ocean, space
European Continental Ancestry Group
Evolution
Exact sciences and technology
Fundamental and applied biological sciences. Psychology
Gene Conversion
Gene Frequency
Genes
Genetics of eukaryotes. Biological and molecular evolution
Genotype
Geographic regions
Haplotypes
High frequencies
Hominids
Homo sapiens
Human genetics
Humans
Individualized Instruction
Linkage Disequilibrium
Models, Genetic
Musculoskeletal abnormalities
Nerve Tissue Proteins - genetics
Organ Size
Paleontology
Pan troglodytes - genetics
Phylogeny
Polymorphism, Genetic
Positive selection
Recombination, Genetic
Selection, Genetic
Sequence Analysis, DNA
Size
Statistical Distributions
Statistical Significance
Time
Vertebrate paleontology
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Summary: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 rapid adaptive evolution.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.1116815