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study also reveals a role of the C-terminal domain of RP2 in maintaining the overall protein stability.
maternal rp2 mRNA is essential for successful embryonic development and thus contributes to egg developmental competence
Knockout of RP2 decreases GRK1 (show GRK1 Proteins) and rod transducin (show GNAT1 Proteins) subunits and leads to photoreceptor degeneration in zebrafish
Results suggest that RP2 plays a key role in photoreceptor development and maintenance in zebrafish
Zebrafish RP2 is widely expressed throughout development. ZFRP2 knockdown caused retinal degeneration in zebrafish.
this study identifies ARL3 as a key player in prenylated protein trafficking in rod photoreceptor cells and establishes the potential role for ARL3 dysregulation in the pathogenesis of RP2 (show NUDT19 Proteins)-related forms of XLRP
Studies indicate taht the majority of patients with X-linked RP have mutations in the retinitis pigmentosa GTPase regulator (RPGR (show RPGR Proteins)) or retinitis pigmentosa 2 protein (RP2 (show NUDT19 Proteins)) genes.
study also reveals a role of the C-terminal domain of RP2 (show NUDT19 Proteins) in maintaining the overall protein stability.
Three XLRP families (RP-001, RP-002, and RP-003), composed of 13 individuals, were reported in this study, and 2 different mutations were detcted We found 3 genetic variants: a novel mutation c.1591G>T in exon 14 and a novel polymorphism c.1105C>T in exon 10, resulting in p.Glu531* and p.Arg369Cys of RPGR (show RPGR Proteins) gene, respectively, and one already known mutation c.413A>G in exon 2, resulting in a p.Glu138Gly of RP2 (show NUDT19 Proteins) gene
We identified a novel causative mutation in RP2 (show NUDT19 Proteins) from a single proband's exome sequence data analysis. This study highlights the effectiveness of the whole-exome sequencing in the genetic diagnosis of X-linked retinitis pigmentosa, over the conventional sequencing methods.
Three mutations were identified in the ORF15 (show RPGR Proteins) exon of RPGR (show RPGR Proteins). No RP2 (show NUDT19 Proteins) mutations were found among the examined families. Mutation screening of RP patients is essential to understand the mechanism behind this disease and develop treatments
seven out of 27 families, displaying mutations in the ABCA4, RP1, RP2 and USH2A genes, could be genetically or clinically reclassified. These results demonstrate the potential of our panel-based NGS strategy in RP diagnosis
The ability of the restored RP2 protein (show P2RX1 Proteins) level to reverse the observed cellular phenotypes in cells lacking RP2 (show NUDT19 Proteins) indicates that translational read-through could be clinically beneficial for patients.
ellipsometric measurements of naRP2 demonstrated that its particular affinity for saturated phospholipids can be explained by its larger extent of insertion in this phospholipid monolayer compared to that in polyunsaturated phospholipid monolayers.
The methylation state of CpG sites close to the RP2 (show NUDT19 Proteins) core promoter (GAAA)n repeat serves as a proxy measurement of X-chromosome inactivation in human and non-human primates.
this study identifies ARL3 as a key player in prenylated protein trafficking in rod photoreceptor cells and establishes the potential role for ARL3 dysregulation in the pathogenesis of RP2-related forms of X-linked retinitis pigmentosa
RP2 has a role in cone photoreceptor sensory cilium elongation in mice
we first performed detailed characterization of the Rp2-knockout (Rp2-KO) mice and observed early-onset cone dysfunction
Our studies suggest that RP2 contributes to the maintenance of photoreceptor function and that cone opsin mislocalization represents an early step in XLRP caused by RP2 mutations.
We propose that RP2 regulation of Arl3 is important for maintaining Golgi cohesion, facilitating the transport and docking of vesicles and thereby carrying proteins to the base of the photoreceptor connecting cilium for transport to the outer segment.
The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death
, retinitis pigmentosa 2 (X-linked recessive)
, XRP2 protein
, XRP2-like protein
, protein XRP2-like
, retinitis pigmentosa 2 homolog