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PMID: 15793586 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.

Nature genetics ·Vol. 37 ·No. 4 ·2005-04-00 ·Pages 353-5

Bond J, Roberts E, Springell K, Lizarraga SB, Lizarraga S, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SM, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG

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.

MeSH Terms

Animals Brain/anatomy & histology Cell Cycle Proteins Centrosome/physiology Female Gene Expression Regulation, Developmental Genes, Recessive HeLa Cells Homozygote Humans Intracellular Signaling Peptides and Proteins/genetics Male Mice Microcephaly/genetics Microtubule-Associated Proteins/genetics Mitosis/physiology Molecular Sequence Data Mutation/genetics Nerve Tissue Proteins/genetics Neurons/cytology,physiology Pedigree Spindle Apparatus/physiology

Chemicals

CDK5RAP2 protein, human CENPJ protein, human Cell Cycle Proteins Intracellular Signaling Peptides and Proteins Microtubule-Associated Proteins Nerve Tissue Proteins

Authors & Affiliations

21 authors, click to expand affiliations / ORCID

Bond Jacquelyn

Molecular Medicine Unit, University of Leeds, St. James's University Hospital, Beckett Street, Leeds LS9 7TF, UK.

Roberts Emma

Springell Kelly

Lizarraga Sofia B

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

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng1539

Published

2005-04-00

Epub

2005-00-27

Pages

353-5

Language

English

Region

United States

NLM ID

9216904

Subset

Databases

GENBANK

AL929409, AY917123, AY917124, CAB89629

RefSeq

NM_018249, NM_018451, NM_145990, NP_649701, XM_127861, XP_127861, XP_224232

Corrections

ErratumIn

External Links

PubMed source DOI: 10.1038/ng1539 View journal details

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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.

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