A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

被引：437

作者：

Bond, J

Roberts, E

Springell, K

Lizarraga, S

Scott, S

Higgins, J

Hampshire, DJ

Morrison, EE

Leal, GF

Silva, EO

Costa, SMR

Baralle, D

Raponi, M

Karbani, G

Rashid, Y

Jafri, H

Bennett, C

Corry, P

Walsh, CA

Woods, CG ^{[1
]}

机构：

[1] Univ Cambridge, Addenbrookes Hosp, Dept Med Genet, CIMR, Cambridge CB2 2BP, England

[2] Univ Leeds, St James Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, England

[3] Harvard Univ, Sch Med, Dept Neurol, Beth Israel Deaconess Med Ctr,Harvard Inst Med, Boston, MA 02115 USA

[4] St James Univ Hosp, Canc Res UK Ctr Leeds, Div Canc Med Res, Leeds LS9 7TF, W Yorkshire, England

[5] Inst Maternoinfantil Pernambuco, Recife, PE, Brazil

[6] Univ Fed Pernambuco, Dept Genet, Recife, PE, Brazil

[7] St James Univ Hosp, Dept Clin Genet, Leeds LS9 7TF, W Yorkshire, England

[8] Lady Wellington Hosp, Dept Obstet & Gynaecol, Lahore, Pakistan

[9] St Lukes Hosp, Dept Paediat, Bradford BD5 0NA, W Yorkshire, England

来源：

NATURE GENETICS | 2005年 / 37卷 / 04期

基金：

美国国家卫生研究院; 英国惠康基金; 英国医学研究理事会;

关键词：

D O I：

10.1038/ng1539

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

收藏

页码：353 / 355

页数：3

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