Mutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells.

Abstract:

:To identify genes important for hair-cell function, we conducted a mutagenic screen in zebrafish. Larvae from one mutant line, ru848, were unresponsive to acoustic stimuli and unable to balance. The mutation results in a 90% reduction in hair-cell number and partial retinal degeneration by 5 days postfertilization. We localized the recessive ru848 mutation by positional cloning to the zebrafish homolog of the human Choroideremia gene, which encodes Rab escort protein 1. This protein is essential for the normal prenylation of Rabs. Mutations in the human gene induce choroideremia, a disease marked by slow-onset degeneration of rod photoreceptors and retinal pigment epithelial cells. The degenerative phenotype resulting from a null mutation in the zebrafish gene indicates that hair cells and retinal cells require Rab escort protein 1 for survival.

authors

Starr CJ,Kappler JA,Chan DK,Kollmar R,Hudspeth AJ

doi

10.1073/pnas.0308474100

keywords:

subject

Has Abstract

pub_date

2004-02-24 00:00:00

pages

2572-7

issue

8

eissn

0027-8424

issn

1091-6490

pii

101/8/2572

journal_volume

101

pub_type

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