Sox1 directly regulates the γ-crystallin genes and is essential for lens development in mice

被引：229

作者：

Nishiguchi, S

Wood, H

Kondoh, H

Lovell-Badge, R

Episkopou, V ^{[1
]}

机构：

[1] Hammersmith Hosp, MRC, Lab Embryol, Ctr Clin Sci, London W12 0NN, England

[2] Osaka Univ, Inst Mol & Cellular Biol, Suita, Osaka 565, Japan

[3] MRC, Natl Inst Med Res, Div Dev Genet, London NW7 1AA, England

来源：

GENES & DEVELOPMENT | 1998年 / 12卷 / 06期

基金：

英国医学研究理事会;

关键词：

Sox1; gene targeting; cataract; gamma-crystallin;

D O I：

10.1101/gad.12.6.776

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

gamma-Crystailins are major structural components of the lens fiber cells in amphibians and mammals. Many dominant inherited cataracts in humans and mice have been shown to map within the gamma-crystallin gene cluster. Several transcription factors, including PAX6 and SOX proteins, have been suggested as candidates for crystallin gene regulation. Here we show that the targeted deletion of Sox1 in mice causes microphthalmia and cataract. Mutant lens fiber cells fail to elongate, probably as a result of an almost complete absence of gamma-crystallins. It appears that the direct interaction of the SOX1 protein with a promoter element conserved in all gamma-crystallin genes is responsible for their expression.

引用

页码：776 / 781

页数：6

共 29 条

[1] Targeted disruption of the mouse alpha A-crystallin gene induces cataract and cytoplasmic inclusion bodies containing the small heat shock protein alpha B-crystallin [J].