Identification of microcephalin, a protein implicated in determining the size of the human brain

Am J Hum Genet. 2002 Jul;71(1):136-42. doi: 10.1086/341283. Epub 2002 Jun 3.

Abstract

Primary microcephaly (MIM 251200) is an autosomal recessive neurodevelopmental condition in which there is a global reduction in cerebral cortex volume, to a size comparable with that of early hominids. We previously mapped the MCPH1 locus, for primary microcephaly, to chromosome 8p23, and here we report that a gene within this interval, encoding a BRCA1 C-terminal domain-containing protein, is mutated in MCPH1 families sharing an ancestral 8p23 haplotype. This gene, microcephalin, is expressed in the developing cerebral cortex of the fetal brain. Further study of this and related genes may provide important new insights into neocortical development and evolution.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Brain / anatomy & histology*
  • Brain / pathology
  • Child
  • Chromosomes, Human, Pair 8 / genetics
  • Cloning, Molecular
  • DNA / genetics
  • DNA Mutational Analysis
  • Embryonic and Fetal Development / genetics
  • Female
  • Gene Expression Regulation, Developmental
  • Humans
  • In Situ Hybridization
  • Male
  • Mice
  • Microcephaly / genetics*
  • Microcephaly / pathology
  • Molecular Sequence Data
  • Nerve Tissue Proteins / genetics*
  • Organ Size / genetics
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Sequence Homology, Amino Acid

Substances

  • MCPH1 protein, human
  • Nerve Tissue Proteins
  • RNA, Messenger
  • DNA

Associated data

  • GENBANK/AK022909
  • GENBANK/AX087869
  • GENBANK/AX087870
  • GENBANK/AY070216
  • OMIM/251200