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1: Nat Genet. 2005 Apr;37(4):353-5. Epub 2005 Mar 27.Click here to read Links
Erratum in:
Nat Genet. 2005 May;37(5):555. Lizarraga, Sophia [corrected to Lizarraga, Sofia B].

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.

Molecular Medicine Unit, University of Leeds, St. James's University Hospital, Beckett Street, Leeds LS9 7TF, UK.

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.

PMID: 15793586 [PubMed - indexed for MEDLINE]