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The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa.
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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.
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.
A novel frameshift mutation in RP2 (show NUDT19 Proteins) was detected. This mutation was located in exon 2 of the RP2 (show NUDT19 Proteins) gene: a nucleotide C was inserted at 111 (c.111insC, Fig. 1A), which caused a protein translation frameshift
Direct sequencing of RPGR (show RPGR Proteins) and RP2 (show NUDT19 Proteins) allowed for identification of a disease-causing mutation in 21 families. Of these "adRP (show PLIN2 Proteins)" families 19 had RPGR (show RPGR Proteins) mutations, and two had RP2 (show NUDT19 Proteins) mutations.
Based on our findings, we suggest that RPGR (show RPGR Proteins) should be considered as a first tier gene for screening isolated males with retinal degeneration.
data support a role for RP2 in facilitating the membrane association and traffic of Gbeta1, potentially prior to the formation of the obligate Gbeta:Ggamma heterodimer; combined with other recent evidence, this suggests that RP2 may co-operate with Arl3 and its effectors in the cilia-associated traffic of G proteins
The localization of RP2 (show NUDT19 Proteins) to basal bodies and cilia in photoreceptors and kidney cells has linked RP2 (show NUDT19 Proteins) dysfunction with ciliopathies.
Data demonstrate that Importin (show KPNA4 Proteins) beta2 is necessary for localization of retinitis pigmentosa 2 (RP2 (show NUDT19 Proteins)) to the primary cilium, and identify two distinct binding sites of RP2 (show NUDT19 Proteins), which interact independently with Importin (show KPNA4 Proteins) beta2.
An identifiable phenotype for RP2 (show NUDT19 Proteins)-X-linked retinitis pigmentosa aids in clinical diagnosis and targeted genetic screening.
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