A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.

Journal: Nature Genetics
Published:
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.

Authors
Jacquelyn Bond, Emma Roberts, Kelly Springell, Sofia Lizarraga, Julie Higgins, Daniel Hampshire, Ewan Morrison, Gabriella Leal, Elias Silva, Suzana M Costa, Diana Baralle, Michela Raponi, Gulshan Karbani, Yasmin Rashid, Hussain Jafri, Christopher Bennett, Peter Corry, Christopher Walsh, C Woods