| Literature DB >> 15793586 |
Jacquelyn Bond1, Emma Roberts, Kelly Springell, Sofia B Lizarraga, Sophia Lizarraga, Sheila Scott, Julie Higgins, Daniel J Hampshire, Ewan E Morrison, Gabriella F Leal, Elias O Silva, Suzana M R Costa, Diana Baralle, Michela Raponi, Gulshan Karbani, Yasmin Rashid, Hussain Jafri, Christopher Bennett, Peter Corry, Christopher A Walsh, C Geoffrey Woods.
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.Entities:
Mesh：
Substances：
Year: 2005 PMID： 15793586 DOI： 10.1038/ng1539
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330