Recombinant Human X-linked retinitis pigmentosa GTPase regulator (RPGR), partial

1. A Chinese family with Retinitis pigmentosa, 5 males with night blindness and decreased vision, and 8 females with different severities of myopia. Targeted exome capture sequencing in 2 males revealed a novel variant in the RPGR gene. The mutation cosegregated with the disease phenotype in the family. PMID: 30313097
2. this is the first report of a molecular genetic diagnosis of XLRP in a patient with Turner syndrome. The X-linked RP in this woman may not be related to Turner syndrome, but may be a manifestation of the lack of a normal paternal X chromosome with in tact but mutate d RPGR PMID: 29135076
3. A novel frame-shift mutation in exon ORF15 of RPGR gene attributes of this heterozygosity suggest that gain-of-function mechanism could give rise to pathologic myopia via a degenerative cell-cell remodeling of the retinal structures. PMID: 27995965
4. RPGR interacts with PDE6delta and INPP5E. PDE6delta binds selectively to the C-terminus of RPGR and that this interaction is critical for RPGR's localization to cilia. INPP5E associates with the N-terminus of RPGR and trafficking of INPP5E to cilia is dependent upon the ciliary localization of RPGR. PMID: 28172980
5. In induced pluripotent stem cells and mouse knockouts that RPGR mediates actin dynamics in photoreceptors via the actin-severing protein, gelsolin. PMID: 28814713
6. Together with a physical interaction between RPGR and the C-terminal domain of CEP290, our data suggest that RPGR and CEP290 genetically interact and highlight the involvement of hypomorphic alleles of genes as potential modifiers of heterogeneous retinal ciliopathies. PMID: 26936822
7. We also correlated the features observed in patients with those of three Rpgr-mutant (Rpgr-ko, Rd9, and Rpgr-cko) mice. In patients, there was pronounced macular disease PMID: 27798110
8. Profound visual loss occurred by the second decade of life with progression to near no light perception by age 60 in this kindred of X-linked RP associated with the RPGR genotype. PMID: 24555744
9. Although carriers of XLRP are usually asymptomatic or have a mild disease of late onset, the proband presented here exhibited an early-onset, aggressive form of the disease. PMID: 24428633
10. The regulator of chromosome condensation 1-like domain of RPGR was conserved in vertebrates and invertebrates, but RPGR(ORF15) was unique to vertebrates. PMID: 26431479
11. Coverage-based analysis indicated that the RPGR open reading frame (ORF)15 was located in an uncovered or low-depth region. Through additional screening of ORF15, we identified pathogenic mutations in 14% (7/50) of patients. PMID: 25569437
12. X-linked retinitis pigmentosa caused by mutations in the RPGR gene is a severe and early onset form of retinal degeneration. [review] PMID: 25301933
13. Severe retinal degeneration is found in a Czech family women with a c.2543del mutation in ORF15 of the RPGR gene. PMID: 25352739
14. The edge of the ellipsoid zone in each patient with X-linked retinitis pigmentosa indicates a transition zone between relatively healthy and relatively degenerate retina. PMID: 25556114
15. RPGR mutations associated with X-linked retinitis pigmentosa. PMID: 24454928
16. We will summarize the functional characterization of RPGR and highlight recent studies in animal models, which will not only shed light on the disease mechanisms in X linked retinitis pigmentosa but will also provide therapeutic strategies for treatment. PMID: 24664734
17. A novel RPGR gene was found in a retinal dystrophy patient in a family with Stargardt disease. PMID: 24489377
18. While visual acuity and electroretinography phenotypes are concordant in only some patients carrying identical mutations, assessment of phenotypes revealed stronger phenotypic conservation. PMID: 23681342
19. RPGR is acting as a scaffold protein recruiting cargo-loaded PDE6D and Arl3 to release lipidated cargo into cilia. PMID: 23559067
20. Mutations in RPGR were found in two patients and relatives with primary ciliary dyskinesia and retinitis pigmentosa. Reduced ciliary orientation and coordination of ciliary bundles suggest RPGR may play a role in respiratory cilia orientation. PMID: 22888088
21. Mutations in RPGR are one of the most common causes of all forms of retinitis pigmentosa. PMID: 23372056
22. the human RPGR proximal promoter region in which a 3-kb fragment contained sufficient regulatory elements to control RPGR expression in mouse retina and other tissues. PMID: 22577079
23. Genetic variation of RPGRIP1L and IQCB1 may affect severity in RPGR mutation X-linked retinitis pigmentosa. PMID: 22183348
24. This novel mutation in RPGR ORF15 causes serious retinitis pigmentosa phenotype in males and no RP phenotype in female carriers. PMID: 21914266
25. The function of RPGR was analysed by RNA interference-mediated translational suppression. PMID: 21933838
26. Data show that the minor allele (N) of I393N in IQCB1 and the common allele (R) of R744Q in RPGRIP1L were associated with severe disease in XlRP with RPGR mutations. PMID: 21857984
27. Expression of RPGR mutations in this particular region appears to be relatively homogeneous and predisposed to cones. PMID: 21866333
28. a micro-deletion through prenatal genetic diagnosis and another novel nonsense mutation in RPGR-ORF15. PMID: 21683121
29. Recent advances on understanding the role of RPGR in photoreceptor protein trafficking, are summarized. PMID: 20238008
30. a novel deletion mutation in the retinitis pigmentosa GTPase regulator gene, gORF15+556delA, in a Han Chinese family with retinitis pigmentosa PMID: 21227725
31. Mutations in the RPGR gene lead to X-linked Retinitis pigmentosa (XLRP), one of the most severe and early onset forms of RP. Gene therapy is considered a potential therapeutic option and is currently under investigation. PMID: 21174525
32. The pedigree we have investigated here represents the first Czech family with an identified molecular genetic cause of retinitis pigmentosa PMID: 20064120
33. RPGR modulates intracellular localization and function of RAB8A. PMID: 20631154
34. Differentially expressed genes were identified in mutant retinas. At 7 and 16 weeks, a combination of nonclassic anti- and proapoptosis genes and mitochondria-related genes appear to be involved in photoreceptor degeneration. PMID: 20574030
35. The novel mutation in RPGR ORF15 causes a serious retinitis pigmentosa phenotype in males and noretinitis pigmentosa phenotype in female carriers. PMID: 20806050
36. Studies highlight the recent developments in understanding the mechanism of cilia-dependent photoreceptor degeneration due to mutations in RPGR and PGR-interacting proteins in severe genetic diseases. PMID: 20090203
37. These findings show that splicing of RPGR is precisely regulated in a tissue-dependent fashion and suggest that mutations in RPGR frequently interfere with the expression of alternative transcript isoforms. PMID: 19834030
38. RPGR is involved in cilia-dependent cascades during development in zebrafish. PMID: 19815619
39. This novel mutation in RPGRcauses X-Linked RP with complete penetrance in males and females and affected females are highly myopic but retain better visual function than affected males. PMID: 19218993
40. Insertional/deletional mutations observed in the three families with X-linked retinitis pigmentosa are all different and new, and are predicted to lead to a frameshift, resulting in a truncated protein. PMID: 11754050
41. X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15 PMID: 11857109
42. A mutation in this gene causes X-linked cone dystrophy. This type of hereditary retinal degeneration is distinct from retinitis pigmentosa. PMID: 11875055
43. RPGR and RPGRIP isoforms are distributed and co-localized at restricted foci throughout the outer segments of human and bovine, but not mice rod photoreceptors. PMID: 12140192
44. Identification of an RPGR mutation in atrophic macular degeneration expands the phenotypic range from retinitis pigmentosa. PMID: 12160730
45. RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. PMID: 12657579
46. Different RPGR mutations lead to distinct RP (retinitis pigmentosa) phenotypes, with a highly variable inter- and intrafamilial phenotypic spectrum of disease PMID: 14516808
47. Among patients with RPGR mutations, those with ORF15 mutations had, on average, a significantly larger visual field area and a borderline larger ERG amplitude than did patients with RPGR mutations in exons 1-14 PMID: 14564670
48. Mutations in the RPGR gene is associated with X-linked retinitis pigmentosa PMID: 14566651
49. Sequencing revealed skipping of exon 2 in the mutated transcript, leading to in-frame deletion of 42 amino acids affecting the critical RCC1-like domain. PMID: 15364249
50. RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. PMID: 15772089

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HGNC: 10295

OMIM: 300029

KEGG: hsa:6103

STRING: 9606.ENSP00000367766

UniGene: Hs.61438