Article
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
Nature genetics - 1 Apr 2005
Bond Jacquelyn, Roberts Emma, Springell Kelly, Lizarraga Sofia B, Lizarraga Sophia, 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 excerpt
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...
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