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- Title
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
- Authors
Bond, Jacquelyn; Roberts, Emma; Springell, Kelly; Lizarraga, Sofia B; Scott, Sheila; Higgins, Julie; Hampshire, Daniel J; Morrison, Ewan E; Leal, Gabriella F; Silva, Elias O; Costa, Suzana M R; Baralle, Diana; Raponi, Michela; Karbani, Gulshan; Rashid, Yasmin; Jafri, Hussain; Bennett, Christopher; Corry, Peter; Walsh, Christopher A; Woods, C Geoffrey
- Abstract
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.
- Publication
Nature genetics, 2005, Vol 37, Issue 4, p353
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1539