2. Academic Validation
  3. Identification of microcephalin, a protein implicated in determining the size of the human brain

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.
Andrew P Jackson 1,  Helen Eastwood,  Sandra M Bell,  Jimi Adu,  Carmel Toomes,  Ian M Carr,  Emma Roberts,  Daniel J Hampshire,  Yanick J Crow,  Alan J Mighell,  Gulshan Karbani,  Hussain Jafri,  Yasmin Rashid,  Robert F Mueller,  Alexander F Markham,  C Geoffrey Woods
Affiliations

Affiliation

  • 1 Molecular Medicine Unit, University of Leeds, United Kingdom. medapj@leeds.ac.uk
PMID: 12046007 DOI: 10.1086/341283
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.

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