Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

被引：284

作者：

Vega, H

Waisfisz, Q

Gordillo, M

Sakai, N

Yanagihara, I

Yamada, M

van Gosliga, D

Kayserili, H

Xu, CZ

Ozono, K

Jabs, EW

Inui, K

Joenje, H

机构：

[1] Univ Nacl Colombia, Inst Genet, Bogota, Colombia

[2] Osaka Univ, Grad Sch Med, Dept Dev Med Pediat D5, Suita, Osaka 5650871, Japan

[3] Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, NL-1081 BT Amsterdam, Netherlands

[4] Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA

[5] Osaka Med Ctr Maternal & Child Hlth, Dept Dev Infect Dis, Res Inst, Osaka 5941101, Japan

[6] Istanbul Univ, Istanbul Fac Med, Dept Med Genet, TR-34390 Istanbul, Turkey

来源：

NATURE GENETICS | 2005年 / 37卷 / 05期

关键词：

D O I：

10.1038/ng1548

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Roberts syndrome is an autosomal recessive disorder characterized by craniofacial anomalies, tetraphocomelia and loss of cohesion at heterochromatic regions of centromeres and the Y chromosome. We identified mutations in a new human gene, ESCO2, associated with Roberts syndrome in 15 kindreds. The ESCO2 protein product is a member of a conserved protein family that is required for the establishment of sister chromatid cohesion during S phase and has putative acetyltransferase activity.

引用

页码：468 / 470

页数：3

共 15 条

[1] Human EFO1p exhibits acetyltransferase activity and is a unique combination of linker histone and Ctf7p/Eco1p chromatid cohesion establishment domains [J].