A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.


Journal Article

Autosomal recessive primary microcephaly is a potential model in which to research genes involved in human brain growth. We show that two forms of the disorder result from homozygous mutations in the genes CDK5RAP2 and CENPJ. We found neuroepithelial expression of the genes during prenatal neurogenesis and protein localization to the spindle poles of mitotic cells, suggesting that a centrosomal mechanism controls neuron number in the developing mammalian brain.

Full Text

Duke Authors

Cited Authors

  • Bond, J; Roberts, E; Springell, K; Lizarraga, SB; Scott, S; Higgins, J; Hampshire, DJ; Morrison, EE; Leal, GF; Silva, EO; Costa, SMR; Baralle, D; Raponi, M; Karbani, G; Rashid, Y; Jafri, H; Bennett, C; Corry, P; Walsh, CA; Woods, CG

Published Date

  • April 2005

Published In

Volume / Issue

  • 37 / 4

Start / End Page

  • 353 - 355

PubMed ID

  • 15793586

Pubmed Central ID

  • 15793586

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/ng1539


  • eng

Conference Location

  • United States