19 Aug 1994 the human RDS/peripherin gene,4mutations were first identified in families with autosomal dominant retinitis pigmentosa (adRP, for review.

1993-03-01

1992-03-01 · View protein in InterPro IPR000830, Peripherin/rom-1 IPR018498, Peripherin/rom-1_CS IPR042026, Peripherin_LEL IPR018499, RDS_ROM1, 1 hit Digenic inheritance of a ROM1 gene mutation with a peripherin/RDS or rhodopsin mutation in families with retinitis pigmentosa Jacobson, S G; Cideciyan, A V; Bascom, R A; Ponjavic, Vesna LU; Abrahamson, Magnus LU; Ekström, Ulf LU; Andréasson, Sten LU; Ehinger, Berndt LU; Sheffield, V C and McInnes, R R, et al. () In Digital Journal of Ophthalmology 5 (6). Peripherin/RDS. Other versions of this article Kathleen Boesze‐Battaglia the rds defect is more deleterious to rods than to cones, a difference that is likely to reﬂect a greater role of peripherin/rds in maintaining the structure of the rod outer segment. The data also provide an empirical basis with which to compare rds/1 mice to patients heterozygous for one or another dominantly inherited peripherin/rds mutation.

Peripherin rds

KLHL7. IMPDH1. BBS2. BBS7. BBS10.

More than 40 mutations within the peripherin/RDS gene have been associated with a variety of retinal degenerative diseases (Kohl et al., 1998); the majority

/ Jacobson, S G; Cideciyan, A V; A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration. Ophthalmic Genet.

Increased numbers of mutations in the peripherin/RDS (retinal degeneration slow ) gene have been identified in families with autosomal dominant retinitis

Purpose: To measure the proportion of cases of retinitis pigmentosa (RP) caused by mutations in the peripherin/RDS (RDS) and ROM1 genes. Methods: The single-strand conformation polymorphism (SSCP) method was used to analyze 227 unrelated patients with dominant or recessive RP for mutations in the RDS gene and an overlapping In 1987, a second distinct peripherally located retinal rod protein was also given the name peripherin. To distinguish between the two, this second protein is referred to peripherin 2 or peripherin/RDS (retinal degeneration slow) for its location and role in retinal disease. Structure and properties Digenic inheritance of a ROM1 gene mutation with a peripherin/RDS or rhodopsin mutation in families with retinitis pigmentosa. Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift The 3 coding exons of the peripherin/RDS gene were subsequently screened for mutations in affected and unaffected family members. A nonconservative missense substitution, Arg172Trp (R172W), segregated uniquely in all affected subjects.

BBS7.
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Detergent soluble Crds2 is a more distant homologue of mammalian RDS but closer as to Xenopus rds The RDS gene codes for the protein peripherin‐RDS, which is an integral membrane glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It is thought to function as a structural protein involved in the maintenance of the flattened form of the disc lamellae. Peripherin/rds and Rom1 trafficking was maintained in rhodopsin-knockout mice, suggesting that rim proteins and rhodopsin have separate transport pathways. The presence of truncated peripherin/rds-GFP in the outer segment supported previous evidence that peripherin/rds mice form homotetramers for outer segment targeting. Peripherin/Rds is a tetraspanning membrane protein that has been implicated in photoreceptor outer segment morphogenesis and inherited retinal degenerative diseases.

Natural mutations of the encoding gene result in degenerative retinal disorders, such as retinitis pigmentosa. Ekström, Ulf et al. "Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system".
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Screening for mutations in rhodopsin and peripherin/RDS in patients with autosomal dominant retinitis pigmentosa. 1994; Am.J.Hum.Genet. Haploinsufficiency because of a null mutation in the gene encoding peripherin/rds has been thought to be the primary defect associated with the photoreceptor degeneration seen in the retinal degeneration slow ( rds ) mouse.