A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size
J Bond, E Roberts, K Springell, S Lizarraga, S Scott… - Nature …, 2005 - nature.com
J Bond, E Roberts, K Springell, S Lizarraga, S Scott, J Higgins, DJ Hampshire, EE Morrison…
Nature genetics, 2005•nature.comAutosomal 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.
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.
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.
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