title: Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens.
abstract: 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.
authors.affiliation: Howard Hughes Medical Institute, Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.
authors.forename: Nitzan
authors.initials: N
authors.lastname: Mekel-Bobrov
authors.forename: Sandra L
authors.initials: SL
authors.lastname: Gilbert
authors.forename: Patrick D
authors.initials: PD
authors.lastname: Evans
authors.forename: Eric J
authors.initials: EJ
authors.lastname: Vallender
authors.forename: Jeffrey R
authors.initials: JR
authors.lastname: Anderson
authors.forename: Richard R
authors.initials: RR
authors.lastname: Hudson
authors.forename: Sarah A
authors.initials: SA
authors.lastname: Tishkoff
authors.forename: Bruce T
authors.initials: BT
authors.lastname: Lahn
mesh_terms: D000220:Adaptation, Biological; D000818:Animals; D044466:Asian People / Q000235:genetics; D005075:Biological Evolution; D044383:Black People; D001921:Brain / Q000033:anatomy & histology* / Q000502:physiology; D005785:Gene Conversion; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008957:Models, Genetic; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009929:Organ Size; D002679:Pan troglodytes / Q000235:genetics; D010802:Phylogeny; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic; D012641:Selection, Genetic; D017422:Sequence Analysis, DNA; D013995:Time; D044465:White People
chemical_list: C467202:ASPM protein, human; D009419:Nerve Tissue Proteins