A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)

被引：213

作者：

Hong, DH ^{[1
]}

Pawlyk, BS ^{[1
]}

Shang, JZ ^{[1
]}

Sandberg, MA ^{[1
]}

Berson, EL ^{[1
]}

Li, TS ^{[1
]}

机构：

[1] Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat, Boston, MA 02114 USA

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 2000年 / 97卷 / 07期

关键词：

D O I：

10.1073/pnas.060037497

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 X-linked RP3 locus codes for retinitis pigmentosa GTPase regulator (RPGR), a protein of unknown function with sequence homology to the guanine nucleotide exchange factor for Ran GTPase. We created an RPGR-deficient murine model by gene knockout. In the mutant mice, cone photoreceptors exhibit ectopic: localization of cone opsins in the cell body and synapses and rod photoreceptors have a reduced level of rhodopsin, Subsequently, both cone and rod photoreceptors degenerate, RPGR was found normally localized to the connecting cilia of rod and cone photoreceptors. These data point to a role for RPGR in maintaining the polarized protein distribution across the connecting cilium by facilitating directional transport or restricting redistribution. The function of RPGR is essential for the long-term maintenance of photoreceptor viability.

引用

页码：3649 / 3654

页数：6

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