Molecular cloning, genomic structure, and protein characterization of mouse optineurin

被引：47

作者：

Rezaie, T ^{[1
]}

Sarfarazi, M ^{[1
]}

机构：

[1] Univ Connecticut, Ctr Hlth, Dept Surg, Surg Res Ctr,Mol Ophthalm Genet Lab, Farmington, CT 06030 USA

来源：

GENOMICS | 2005年 / 85卷 / 01期

关键词：

D O I：

10.1016/j.ygeno.2004.10.011

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

We recently identified optineurin (OPTN) as a novel gene for glaucoma and determined its mRNA and protein expression patterns in different human tissues. Herein, we describe the cloning, mapping, genomic organization, and mRNA and protein expression patterns for murine optineurin (Optn). We mapped Optn to chromosome 2, within a region that is syntenic to human 10p14. Optn has 13 coding exons and its exon-intron boundaries are evolutionarily conserved with human. Optn encodes an 884-amino-acid protein and shows 78% identity to OPTN Northern blot analysis revealed three mRNA transcripts with highest expression in adult liver, heart, and testis and with earliest detectable message in 7-day-old embryos. In situ hybridization showed prominent ocular expression during mouse embryonic development. Optn colocalizes with vesicular structures near the nucleus and is expressed in anterior segment, retina, and optic nerve blood vessels. Gene and protein ocular profiling of Optn is a prerequisite for developing a mouse model for glaucoma. (C) 2004 Elsevier Inc. All rights reserved.

引用

页码：131 / 138

页数：8

共 27 条

[1] A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region [J].