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.
journal_name
Proc Natl Acad Sci U S Aauthors
Starr CJ,Kappler JA,Chan DK,Kollmar R,Hudspeth AJdoi
10.1073/pnas.0308474100keywords:
subject
Has Abstractpub_date
2004-02-24 00:00:00pages
2572-7issue
8eissn
0027-8424issn
1091-6490pii
101/8/2572journal_volume
101pub_type
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