2005/09/08 by Patrick Evans, Sandra L. Gilbert, Nitzan Mekel-Bobrov +6 · 3 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Diet and metabolism studies #Digestive system and related health #Genetics, Aging, and Longevity in Model Organisms
paper · doi:10.1126/science.1113722
openalex publication_date 2005/09/08 · openalex created_date 2016/06/24 · openalex updated_date 2026/07/23
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.