A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

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 neurogen...

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Veröffentlicht in:	Nature genetics 2005-04, Vol.37 (4), p.353-355
Hauptverfasser:	Bond, Jacquelyn, Roberts, Emma, Springell, Kelly, 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
Format:	Artikel
Sprache:	eng
Schlagworte:	Agriculture Animal Genetics and Genomics Animals Biological and medical sciences Biomedical and Life Sciences Biomedicine Brain Brain - anatomy & histology brief-communication Cancer Research Cell differentiation, maturation, development, hematopoiesis Cell physiology Centrosome - physiology Complications and side effects Diagnosis Female Fundamental and applied biological sciences. Psychology Gene Expression Regulation, Developmental Gene Function Gene mutations Genes, Recessive Genetic aspects Genetics of eukaryotes. Biological and molecular evolution HeLa Cells Homozygote Human Genetics Humans Intracellular Signaling Peptides and Proteins - genetics Male Malformations of the nervous system Mammals Medical sciences Mice Microcephaly Microcephaly - genetics Microtubule-Associated Proteins - genetics Mitosis - physiology Molecular and cellular biology Molecular Sequence Data Mutation Mutation - genetics Nerve Tissue Proteins - genetics Neurology Neurons - cytology Neurons - physiology Pedigree Physiological aspects Spindle Apparatus - physiology
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Beschreibung
Zusammenfassung:	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.
ISSN:	1061-4036 1546-1718
DOI:	10.1038/ng1539