title: Zebrafish model for the genetic basis of X-linked retinitis pigmentosa.
abstract: Retinitis pigmentosa (RP) affects 1/4000 individuals in most populations, and X-linked RP (XLRP) is one of the most severe forms of human retinal degeneration. Mutations in both the retinitis pigmentosa GTPase regulator (RPGR) gene and retinitis pigmentosa 2 (RP2) gene account for almost all cases of XLRP. The functional roles of both RPGR and RP2 in the pathogenesis of XLRP are unclear. Due to the surprisingly high degree of functional conservation between human genes and their zebrafish orthologues, the zebrafish has become an important model for human retinal disorders. In this brief review, we summarize the functional characterization of XLRP-causing genes, RPGR and RP2, in zebrafish, and highlight recent studies that provide insight into the cellular functions of both genes. This will not only shed light on disease mechanisms in XLRP but will also provide a solid platform to test RP-causing mutants before proposing XLRP gene therapy trials.
authors.affiliation: Department of Life Sciences, Glasgow Caledonian University, Glasgow, Scotland.
authors.forename: Rakesh Kotapati
authors.initials: RK
authors.lastname: Raghupathy
authors.forename: Daphne L
authors.initials: DL
authors.lastname: McCulloch
authors.forename: Saeed
authors.initials: S
authors.lastname: Akhtar
authors.forename: Turki M
authors.initials: TM
authors.lastname: Al-mubrad
authors.forename: Xinhua
authors.initials: X
authors.lastname: Shu
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D050172:Genes, X-Linked; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000503:physiopathology; D015027:Zebrafish / Q000235:genetics; D029961:Zebrafish Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D005136:Eye Proteins; C559526:RP2 protein, zebrafish; D029961:Zebrafish Proteins; C547528:rpgra protein, zebrafish