Abstract
Retinitis pigmentosa (RP) is a heterogeneous genetic retinal disorder, characterized by impaired dark adaption and progressive loss of photoreceptor cells. More than 46 genes have been identified to be responsible for RP, but the functional roles of RP-causing mutants are largely unknown. Due to the similarities of anatomy, physiology and functional signal pathways to human retina, the zebrafish has become a valuable model to study human retinal diseases. With the aid of improved techniques in transgenesis, the use of the zebrafish model has been accelerated, especially in the field of retinal degeneration. In this brief review, we will present an overview of the transgenic approaches in zebrafish and the utility of transgenic zebrafish for assessing the pathogenicity of RP-causing alleles.
Highlights
Retinitis pigmentosa (RP, MIM# 268000) is a heterogeneous group of genetic disorders, characterized by the degeneration of rod and cone photoreceptors [1]
More than 53 genetic loci are associated with RP, 46 genes have been identified, 18 genes for autosomal dominant RP, 26 for autosomal recessive RP and 2 for X-linked RP
Most causing genes are only responsible for a small proportion of cases, but mutations in the rhodopsin gene (RHO) cause about 25% of autosomal dominant RP, the USH2A gene accounts for about 20% of autosomal recessive RP, and the retinitis pigmentosa GTPase regulator (RPGR) gene accounts for about 60-75% of the X-linked RP families [1,2,7]
Summary
Retinitis pigmentosa (RP, MIM# 268000) is a heterogeneous group of genetic disorders, characterized by the degeneration of rod and cone photoreceptors [1]. Zebrafish retina develops very early, following an inner to outer retinal order, similar to that of other vertebrate species [10]. The first large-scale forward genetic screen identified 49 mutations causing retinal abnormalities, including loss of laminar pattern of neural retina, an abnormal specification of eye anlagen, cell death in outer nuclear layer, retardation of eye growth, nonspecific retinal degeneration, and retinal degeneration with pigmentation defect [14].
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