Recombinant Mouse Peripherin-2 (Prph2)

1. ablation of Rom1 results in the conversion of an MD/PD phenotype characterized by cone functional defects and the formation of abnormal Prph2/Rom1 complexes to an RP phenotype characterized by rod-dominant functional defects and reductions in total Prph2 protein. Thus one method by which ROM1 may act as a disease modifier is by contributing to the large variability in PRPH2-associated disease phenotype PMID: 28053051
2. quantitative FRET analysis in acutely isolated cone OS revealed that the cone degeneration-causing V268I mutation in peripherin-2 selectively reduced binding to M-opsin without affecting the peripherin-2 interaction to S-opsin or rhodopsin PMID: 27033727
3. These results support the idea that mutations may differentially affect Prph2's role as a structural component, and its role as a functional protein key for organizing membrane domains for cellular signalling. These roles may be different in rods and cones, thus contributing to the phenotypic heterogeneity that characterizes diseases associated with Prph2 mutations. PMID: 27365499
4. Eliminating Cngb1 and reducing RDS leads to additive defects in RDS expression levels and rod electroretinogram (ERG) function, (e.g., Cngb1-/-/rds+/- versus rds+/- or Cngb1-/-) but not to additive defects in rod ultrastructure. PMID: 26934134
5. In the group of mice manifesting homozygous mutation in the PRPH2 gene. PMID: 27116862
6. Our data suggest that upregulation of PRPH2 levels in combination with defects in the PRPH2 function caused by the mutation might be an important mechanism leading to cone degeneration. PMID: 26796962
7. These data suggest that glycosylation of RDS is required for RDS function or stability in cones, a difference that may be due to extracellular versus intradiscal localization of the RDS glycan in cones versus rods. PMID: 26420485
8. These data support a model of pattern dystrophy wherein a primary molecular defect occurring in all photoreceptors leads to secondary sequellae in adjacent tissues, an outcome which leads to macular vision loss. PMID: 25001182
9. Peripherin-2 links CNGB1 to the light-detector rhodopsin in outer segments of rod photoreceptors. PMID: 24963162
10. Expression of R172W mutation in cones induced subtle alterations in RDS/ROM-1 complex assembly, specifically resulting in the formation of abnormal, large molecular weight ROM-1 complexes. Fundus imaging demonstrated that R172W mice developed macular degeneration. PMID: 24463884
11. Correcting the levels of RDS gene expression does not improve the phenotype of the rd7 model of enhanced S-cone syndrome. PMID: 23650562
12. Structural characterization of the mechanism of RDS complex formation and the disease process underlying RDS-associated retinal degeneration. PMID: 23121719
13. Oligomerization incompetent retinal degeneration slow is associated with mislocalization of cone opsins and cone transducin. PMID: 22183390
14. These results suggest that while normal outer segment structure and function require RDS oligomerization, some RDS function is retained in the absence of C150. PMID: 20238000
15. RDS does not interact with the cone CNG. PMID: 20238003
16. These data highlight significant differences in assembly, trafficking and function of RDS in rods versus cones. PMID: 20858597
17. Based on these findings, a relatively small fragment of the Rds promoter may be useful in future gene transfer studies to drive gene expression in photoreceptors. PMID: 20447394
18. Two mutations at codon 244 in RDS confer different disease phenotypes: Asn244His and Asn244Lys RDS exhibit many of the abnormal biochemical hallmarks of traditional loss-of-function and gain-of-function mutations. PMID: 20055437
19. Erythropoietin was neuroprotective to the photoreceptors in the rds mouse. PMID: 19591826
20. Findings suggest that successful gene therapy in patients with photoreceptor defects may ultimately depend upon intervention in early stages of disease and upon accurate control of transgene expression. PMID: 11689482
21. Although Peripherin-2 gene replacement therapy only partially restores photoreceptor morphology, it results in a 300% increase of the visual cycle protein rhodopsin, leading to retinal function improvement. PMID: 14962744
22. R172W protein was more sensitive to tryptic digestion, indicative of a change in protein conformation, possibly contributing to the cone-dominated phenotype. PMID: 15254014
23. We generated transgenic mice expressing P/rds with the C214S missense mutation and crossed them into rds mutant mice to elucidate the mechanism underlying the pathology of autosomal dominant retinitis pigmentosa. PMID: 15656787
24. This study demonstrates the important role of the N-terminal portion of the peripherin (P)/rds second intradiscal (D2) loop and identifies the region between Cys165 and Asn182 as the domain for association of P/rds and its partner Rom-1. PMID: 15779916
25. analysis of rds-peripherin in retinal organotypic culture by RNA interference PMID: 16419083
26. This study provides novel insight into the distinct role of Rds in the OS development of rods and cones. PMID: 16585269
27. melanoregulin regulates peripherin-2 function PMID: 17260955
28. The R172W mutation leads to dominant cone degeneration in the mouse model, regardless of the expression level of the transgene. PMID: 18055786
29. Histologic analysis of homozygous mutant mice at 6 weeks indicated an absence of outer segments (OS) and a 50% reduction of photoreceptor cells which progressed to complete loss of photoreceptors by 10 months. PMID: 18763016
30. Rds C150S mutation failed to form higher-order Rds oligomers, although interactions between C150S-Rds and Rom-1 occurred in rods, but not in cones. PMID: 19050038

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KEGG: mmu:19133

STRING: 10090.ENSMUSP00000024773

UniGene: Mm.291370