EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

被引：157

作者：

Abd El-Aziz, Mai M. ^{[1
]}

Barragan, Isabel ^{[2
,3
]}

O'Driscoll, Ciara A. ^{[1
]}

Goodstadt, Leo ^{[4
]}

Prigmore, Elena ^{[5
]}

Borrego, Salud ^{[2
,3
]}

Mena, Marcela ^{[2
,3
]}

Pieras, Juan I. ^{[2
,3
]}

El-Ashry, Mohamed F. ^{[1
]}

Abu Safieh, Leen ^{[1
]}

Shah, Amna ^{[1
]}

Cheetham, Michael E. ^{[6
]}

Carter, Nigel P. ^{[5
]}

Chakarova, Christina ^{[1
]}

Ponting, Chris P. ^{[4
]}

Bhattacharya, Shomi S. ^{[1
,7
]}

Antinolo, Guillermo ^{[2
,3
]}

机构：

[1] Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England

[2] Hosp Univ Virgen Rocio, Unidad Gest Clin Genet Reprod & Med Fetal, Seville 41013, Spain

[3] CIBERER, Seville, Spain

[4] Univ Oxford, Dept Physiol Anat & Genet, MRC, Funct Genom Unit, Oxford OX1 3QX, England

[5] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

[6] Inst Ophthalmol, Div Mol & Cellular Neurosci, London EC1V 9EL, England

[7] Univ Paris 06, INSERM U592, Inst Vis, UMR 592, Paris, France

来源：

NATURE GENETICS | 2008年 / 40卷 / 11期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

D O I：

10.1038/ng.241

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Using a positional cloning approach supported by comparative genomics, we have identified a previously unreported gene, EYS, at the RP25 locus on chromosome 6q12 commonly mutated in autosomal recessive retinitis pigmentosa. Spanning over 2 Mb, this is the largest eye-specific gene identified so far. EYS is independently disrupted in four other mammalian lineages, including that of rodents, but is well conserved from Drosophila to man and is likely to have a role in the modeling of retinal architecture.

引用

页码：1285 / 1287

页数：3

共 13 条

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