Gene Symbol: Rp1
Description: RP1, axonemal microtubule associated
Alias: Rp1h, oxygen-regulated protein 1, rCG30348-like, retinitis pigmentosa 1 (autosomal dominant), retinitis pigmentosa 1 homolog
Liu Q, Zhou J, Daiger S, Farber D, Heckenlively J, Smith J, et al
. Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. Invest Ophthalmol Vis Sci. 2002;43:22-32 pubmed
Mutations in the RP1 gene account for 6% to 10% of autosomal dominant retinitis pigmentosa (adRP). Previous studies have shown that the RP1 gene is expressed specifically in photoreceptor cells...
Liu Q, Zuo J, Pierce E. The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein. J Neurosci. 2004;24:6427-36 pubmed
..Mutations in the retinitis pigmentosa 1 (RP1) gene are a common cause of retinitis pigmentosa (RP)...
Uchio Yamada K, Manabe N, Yamaguchi M, Akashi N, Goto Y, Yamamoto Y, et al
. Localization of extracellular matrix receptors in ICGN mice, a strain of mice with hereditary nephrotic syndrome. J Vet Med Sci. 2001;63:1171-8 pubmed
Liu J, Huang Q, Higdon J, Liu W, Xie T, Yamashita T, et al
. Distinct gene expression profiles and reduced JNK signaling in retinitis pigmentosa caused by RP1 mutations. Hum Mol Genet. 2005;14:2945-58 pubmed
..the mechanisms underlying autosomal dominant progressive retinitis pigmentosa (RP) caused by the mutations of the RP1 gene and to identify molecules that play roles in the early disease process, we used Affymetrix U74Av2 microarrays ..
Sedmak T, Wolfrum U. Intraflagellar transport molecules in ciliary and nonciliary cells of the retina. J Cell Biol. 2010;189:171-86 pubmed publisher
..Collectively, we provide evidence to implicate the differential composition of IFT systems in cells with and without primary cilia, thereby supporting new functions for IFT beyond its well-established role in cilia. ..
Westfall J, Hoyt C, Liu Q, Hsiao Y, Pierce E, Page McCaw P, et al
. Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1. J Neurosci. 2010;30:8759-68 pubmed publisher
..The retinal degeneration observed in Ahi1(-/-) mice recapitulates aspects of the retinal phenotype observed in patients with JBTS and suggests the importance of Ahi1 in photoreceptor function. ..
Omori Y, Chaya T, Katoh K, Kajimura N, Sato S, Muraoka K, et al
. Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival. Proc Natl Acad Sci U S A. 2010;107:22671-6 pubmed publisher
..In addition, overexpression of retinitis pigmentosa 1 (RP1), a microtubule-associated protein localized in outer-segment axonemes, induced ciliary elongation, and Mak ..
Daiger S, Sullivan L, Bowne S. Genes and mutations causing retinitis pigmentosa. Clin Genet. 2013;84:132-41 pubmed publisher
..In this review, we summarize the current approaches to gene discovery and mutation detection for RP, and indicate pitfalls and unsolved problems. Similar considerations apply to other forms of inherited retinal disease. ..
Karlstetter M, Sorusch N, Caramoy A, Dannhausen K, Aslanidis A, Fauser S, et al
. Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration. Hum Mol Genet. 2014;23:5197-210 pubmed publisher
..Fam161a is required for the molecular delivery into the outer segment cilium, a function which is essential for outer segment disk formation and ultimately visual function. ..