MCPH1
Description
The MCPH1 (microcephalin 1) is a protein-coding gene located on chromosome 8.
MCPH1 is a gene expressed during fetal brain development. Mutations in MCPH1, when homozygous, cause primary microcephaly, a condition characterized by a severely diminished brain. While no effect on mental ability or behavior has been demonstrated in normal individuals, normal variation in brain structure (cortical surface area and total brain volume) has been linked to common genetic variants within MCPH1, but only in females. A derived form of MCPH1 appeared about 37,000 years ago and has spread widely, suggesting a selective sweep. This variant is thought to contribute to increased brain volume and may correlate with the incidence of tonal languages. The derived form of MCPH1 may have originated from a lineage separated from modern humans approximately 1.1 million years ago and later introgressed into humans. This finding supports the possibility of admixture between modern humans and extinct Homo spp.
MCPH1 is also known as BRIT1, MCT.
