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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size
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 neurogenesis and protein localization to the spindle poles of mitotic cells, suggesting that a centrosomal mechanism controls neuron number in the developing mammalian brain.
growth, animals, developmental, neurons, molecular sequence data, female, recessive, hela cells, anatomy & histology, intracellular signaling peptides and proteins, expression, male, genes, mutation, gene expression regulation, pedigree, mitotic spindle apparatus, microcephaly, humans, peptides, protein, physiology, research, mitosis, proteins, microtubule-associated proteins, brain, centrosome, mice, research support, genetics, homozygote, cytology, nerve tissue proteins, nerve tissue, human
1061-4036
353-355
Bond, Jacquelyn
0ccb46d6-5a47-49ce-8fee-65ac4464e884
Roberts, Emma
7a31a338-71a5-4638-8129-869817b381bc
Springell, Kelly
aa153541-88de-410d-a917-e60ec5d0a621
Lizarraga, Sophia
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Scott, Sheila
342a5e32-a076-4e6d-8f1c-d24f182f4c15
Higgins, Julie
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Hampshire, Daniel J.
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Morrison, Ewan E.
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Leal, G briella F.
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Silva, Elias O.
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Costa, Suzana M.R.
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Baralle, Diana
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Raponi, Michela
41119cbd-dacd-4f61-bfaa-312795cbd400
Karbani, Gulshan
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Rashid, Yasmin
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Jafri, Hussain
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Bennett, Christopher
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Corry, Peter
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Walsh, Christopher A.
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Woods, C. Geoffrey
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Bond, Jacquelyn
0ccb46d6-5a47-49ce-8fee-65ac4464e884
Roberts, Emma
7a31a338-71a5-4638-8129-869817b381bc
Springell, Kelly
aa153541-88de-410d-a917-e60ec5d0a621
Lizarraga, Sophia
5fd39a9d-c96e-4f1a-bf5c-0f98198cc3ba
Scott, Sheila
342a5e32-a076-4e6d-8f1c-d24f182f4c15
Higgins, Julie
4fd617af-95ee-4221-aaea-a7a65c3fe60c
Hampshire, Daniel J.
ac3f1ef2-62d9-4d9e-9d6e-ddd1b1061164
Morrison, Ewan E.
d70c7957-a981-466d-a9e7-65ab334f7a5d
Leal, G briella F.
7e534813-18d6-45d1-8bbf-f2475857106c
Silva, Elias O.
e9e31c81-458f-4ddb-b8b6-1696bd0ef0d8
Costa, Suzana M.R.
ce6719d9-c130-4014-9912-77f9454a447c
Baralle, Diana
faac16e5-7928-4801-9811-8b3a9ea4bb91
Raponi, Michela
41119cbd-dacd-4f61-bfaa-312795cbd400
Karbani, Gulshan
c6a76b50-dfa5-4b8b-a05e-50d90764b556
Rashid, Yasmin
f406859d-b1f9-4f9e-a15f-0c0a4d403cea
Jafri, Hussain
a3fb028a-c267-4366-ad53-102b83ffab5f
Bennett, Christopher
675345d2-d13a-4f3e-86b7-2d275fdecd2c
Corry, Peter
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Walsh, Christopher A.
86de9a7d-90f1-4a57-bf4d-bb9b343407c9
Woods, C. Geoffrey
62539ac5-7594-499e-b403-44c030e45916

Bond, Jacquelyn, Roberts, Emma, Springell, Kelly, Lizarraga, Sophia, Scott, Sheila, Higgins, Julie, Hampshire, Daniel J., Morrison, Ewan E., Leal, G briella 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. and Woods, C. Geoffrey (2005) A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nature Genetics, 37 (4), 353-355. (doi:10.1038/ng1539).

Record type: Article

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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More information

Published date: 2005
Keywords: growth, animals, developmental, neurons, molecular sequence data, female, recessive, hela cells, anatomy & histology, intracellular signaling peptides and proteins, expression, male, genes, mutation, gene expression regulation, pedigree, mitotic spindle apparatus, microcephaly, humans, peptides, protein, physiology, research, mitosis, proteins, microtubule-associated proteins, brain, centrosome, mice, research support, genetics, homozygote, cytology, nerve tissue proteins, nerve tissue, human

Identifiers

Local EPrints ID: 48494
URI: http://eprints.soton.ac.uk/id/eprint/48494
ISSN: 1061-4036
PURE UUID: a4cf4b83-c02a-4134-916c-f4c7ad65b602
ORCID for Diana Baralle: ORCID iD orcid.org/0000-0003-3217-4833

Catalogue record

Date deposited: 26 Sep 2007
Last modified: 17 Dec 2019 01:43

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Contributors

Author: Jacquelyn Bond
Author: Emma Roberts
Author: Kelly Springell
Author: Sophia Lizarraga
Author: Sheila Scott
Author: Julie Higgins
Author: Daniel J. Hampshire
Author: Ewan E. Morrison
Author: G briella F. Leal
Author: Elias O. Silva
Author: Suzana M.R. Costa
Author: Diana Baralle ORCID iD
Author: Michela Raponi
Author: Gulshan Karbani
Author: Yasmin Rashid
Author: Hussain Jafri
Author: Christopher Bennett
Author: Peter Corry
Author: Christopher A. Walsh
Author: C. Geoffrey Woods

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