X linked progressive cone-rod dystrophy (COD) is a retinal disease primarily affecting the cone photoreceptors. The disease is genetically heterogeneous and two loci, COD1 (Xp21.1-11.4) and COD2 (Xq27.2-28), have been previously identified. COD1 was recently shown to be caused by mutations in RPGR exon ORF15 (Xp21.1), the gene that is also responsible for RP3 type retinitis pigmentosa. In this ...

RPGR and RPGRIP1 are molecular partners with vital roles in retinal function. Mutations in RPGR are implicated in heterogeneous retinal phenotypes, while those in RPGRIP1 lead to Leber congenital amaurosis. RPGR and RPGRIP1s differentially localize in photoreceptors among species. This may contribute to phenotype disparities among species bearing mutations in RPGR. However, it cannot account fo...

The canine disease, X-linked progressive retinal atrophy (XLPRA), is similar to human RP3, an X-linked form of retinitis pigmentosa, and maps to the same region in the X chromosome. Analysis of the physical map of the XLPRA and RP3 intervals shows a high degree of conservation in terms of genes and their order. We have found different mutations in exon ORF15 of the RPGR gene in two distinct mut...

PURPOSE To measure the rates of visual acuity, visual field, and ERG loss in patients with X-linked retinitis pigmentosa due to RPGR mutations and to determine whether these rates differ from those of patients with dominant retinitis pigmentosa due to RHO mutations. METHODS Snellen visual acuities, Goldmann visual field areas (V4e white test light), and 30 Hz (cone) full-field ERG amplitudes ...

A significant part of marker-assisted backcross breeding (MABB) is recurrent parent genome recovery (RPGR). The purpose this study was to introduce MABB-mediated resistance genes against numerous bacterial leaf blight (BLB) pathogens. Here, we examine the introgression four Xoo high-yielding Malaysian MR297 lineage Xa21, xa13, xa5, and Xa4 from IRBB60 lineage. To accomplish both foreground back...

PURPOSE Canine X-linked progressive retinal atrophy (XLPRA) is a hereditary, progressive retinal degeneration that has been mapped previously to the canine X chromosome in a region flanked by the dystrophin (DMD) and tissue inhibitor of metalloproteinase 1 (TIMP1) genes, and is tightly linked to the gene RPGR. The comparable region of the human X chromosome includes the disease locus for RP3, a...

AIM: To report a novel splicing mutation in the RPGR gene (encoding retinitis pigmentosa GTPase regulator) three-generation Chinese family with X-linked (XLRP). METHODS: Comprehensive ophthalmic examinations including best corrected visual acuity, fundus photography, vision field, and pattern-visual evoked potential were performed to identify disease phenotype of six-year-old boy from (proband)...

L ee and Seo propose in their article [1] that RPGR binds to PDE6d not with the N-terminal RCC1-like propeller domain but solely with the C-terminus. They show, using an immunoprecipitation experiment, that FLAG-tagged fragments missing the C-terminal CaaX motif of RPGR fail to coimmunoprecipitate together with myc-tagged PDE6d. We have previously shown that the N-terminal 400 residues of RPGR ...