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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Animals
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Brain / anatomy & histology*
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Cell Cycle Proteins
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Centrosome / physiology*
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Female
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Gene Expression Regulation, Developmental
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Genes, Recessive
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HeLa Cells
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Homozygote
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Humans
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Intracellular Signaling Peptides and Proteins / genetics*
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Male
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Mice
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Microcephaly / genetics*
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Microtubule-Associated Proteins / genetics*
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Mitosis / physiology
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Molecular Sequence Data
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Mutation / genetics*
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Nerve Tissue Proteins / genetics*
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Neurons / cytology*
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Neurons / physiology
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Pedigree
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Spindle Apparatus / physiology
Substances
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CDK5RAP2 protein, human
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CENPJ protein, human
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Cell Cycle Proteins
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Intracellular Signaling Peptides and Proteins
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Microtubule-Associated Proteins
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Nerve Tissue Proteins
Associated data
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GENBANK/AL929409
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GENBANK/AY917123
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GENBANK/AY917124
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GENBANK/CAB89629
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RefSeq/NM_018249
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RefSeq/NM_018451
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RefSeq/NM_145990
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RefSeq/NP_649701
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RefSeq/XM_127861
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RefSeq/XP_127861
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RefSeq/XP_224232