Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure

被引：58

作者：

Brown, Jacob D. ^{[2
,3
]}

Dutta, Sunit ^{[1
]}

Bharti, Kapil ^{[6
]}

Bonner, Robert F. ^{[4
]}

Munson, Peter J. ^{[7
]}

Dawid, Igor B. ^{[1
]}

Akhtar, Amana L. ^{[2
]}

Onojafe, Ighovie F. ^{[2
]}

Alur, Ramakrishna P. ^{[2
]}

Gross, Jeffrey M. ^{[8
]}

Hejtmancik, J. Fielding ^{[2
]}

Jiao, Xiaodong ^{[2
]}

Chan, Wai-Yee ^{[3
,5
]}

Brooks, Brian P. ^{[2
]}

机构：

[1] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Mol Genet Lab, NIH, Bethesda, MD 20892 USA

[2] NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA

[3] Georgetown Univ, Washington, DC 20007 USA

[4] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Med Biophys, NIH, Bethesda, MD 20892 USA

[5] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Dev Genet, NIH, Bethesda, MD 20892 USA

[6] NINDS, Mammalian Dev Sect, NIH, Bethesda, MD 20892 USA

[7] NIH, Math & Stat Comp Lab, Ctr Informat Technol, Bethesda, MD 20892 USA

[8] Univ Texas Austin, Austin, TX 78712 USA

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 2009年 / 106卷 / 05期

基金：

美国国家卫生研究院;

关键词：

coloboma; eye; pax2; zinc finger protein; zebrafish; EYE; MUTATIONS; COLOBOMA; HEDGEHOG; PAX2; FAMILY; HOMEODOMAIN;

D O I：

10.1073/pnas.0812017106

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The gene networks underlying closure of the optic fissure during vertebrate eye development are poorly understood. Here, we profile global gene expression during optic fissure closure using laser capture microdissected (LCM) tissue from the margins of the fissure. From these data, we identify a unique role for the C2H2 zinc finger proteins Nlz1 and Nlz2 in normal fissure closure. Gene knockdown of nlz1 and/or nlz2 in zebrafish leads to a failure of the optic fissure to close, a phenotype which closely resembles that seen in human uveal coloboma. We also identify misregulation of pax2 in the developing eye of morphant fish, suggesting that Nlz1 and Nlz2 act upstream of the Pax2 pathway in directing proper closure of the optic fissure.

引用

页码：1462 / 1467

页数：6

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