RS1 (gene)

From Wikipedia, the free encyclopedia

Retinoschisis (X-linked, juvenile) 1

Identifiers

RS1; RS; XLRS1

External IDs

OMIM: 312700 MGI: 1336189 HomoloGene: 279

Gene ontology
Molecular Function:	• protein binding
Cellular Component:	• extracellular space
Biological Process:	• cell adhesion • multicellular organismal development • visual perception • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000330 (mRNA)
NP_000321 (protein)

NM_011302 (mRNA)
NP_035432 (protein)

Location

Chr X: 18.57 - 18.6 Mb

Chr X: 156.11 - 156.14 Mb

Pubmed search

[1]

[2]

Retinoschisis (X-linked, juvenile) 1, also known as RS1, is a human gene.^[1]

[edit] References

^ Entrez Gene: RS1 retinoschisis (X-linked, juvenile) 1.

[edit] Further reading

Sikkink SK, Biswas S, Parry NR, et al. (2007). "X-linked retinoschisis: an update.". J. Med. Genet. 44 (4): 225–32. doi:10.1136/jmg.2006.047340. PMID 17172462.
Alitalo T, Kruse TA, de la Chapelle A (1991). "Refined localization of the gene causing X-linked juvenile retinoschisis.". Genomics 9 (3): 505–10. PMID 2032721.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548.
Sauer CG, Gehrig A, Warneke-Wittstock R, et al. (1997). "Positional cloning of the gene associated with X-linked juvenile retinoschisis.". Nat. Genet. 17 (2): 164–70. doi:10.1038/ng1097-164. PMID 9326935.
Hotta Y, Fujiki K, Hayakawa M, et al. (1998). "Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.". Hum. Genet. 103 (2): 142–4. PMID 9760195.
Shastry BS, Hejtmancik FJ, Trese MT (1999). "Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.". Biochem. Biophys. Res. Commun. 256 (2): 317–9. doi:10.1006/bbrc.1999.0323. PMID 10079181.
Mashima Y, Shinoda K, Ishida S, et al. (1999). "Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.". Hum. Mutat. 13 (4): 338. doi:10.1002/(SICI)1098-1004(1999)13:4<338::AID-HUMU16>3.0.CO;2-0. PMID 10220153.
Huopaniemi L, Rantala A, Forsius H, et al. (1999). "Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.". Eur. J. Hum. Genet. 7 (3): 368–76. doi:10.1038/sj.ejhg.5200300. PMID 10234514.
Gehrig A, White K, Lorenz B, et al. (1999). "Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.". Clin. Genet. 55 (6): 461–5. PMID 10450864.
Hiriyanna KT, Bingham EL, Yashar BM, et al. (2000). "Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.". Hum. Mutat. 14 (5): 423–7. doi:10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D. PMID 10533068.
Grayson C, Reid SN, Ellis JA, et al. (2000). "Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.". Hum. Mol. Genet. 9 (12): 1873–9. PMID 10915776.
Weber BH, Schrewe H, Molday LL, et al. (2002). "Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure.". Proc. Natl. Acad. Sci. U.S.A. 99 (9): 6222–7. doi:10.1073/pnas.092528599. PMID 11983912.
Tuvdendorj D, Isashiki Y, Ohba N, et al. (2002). "Two Japanese patients with mutations in the XLRS1 gene.". Retina (Philadelphia, Pa.) 22 (3): 354–7. PMID 12055472.
Wistow G, Bernstein SL, Wyatt MK, et al. (2002). "Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts.". Mol. Vis. 8: 196–204. PMID 12107411.
Inoue Y, Yamamoto S, Inoue T, et al. (2002). "Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis.". Am. J. Ophthalmol. 134 (4): 622–4. PMID 12383832.
Wang T, Waters CT, Rothman AM, et al. (2003). "Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.". Hum. Mol. Genet. 11 (24): 3097–105. PMID 12417531.
Tanimoto N, Usui T, Takagi M, et al. (2003). "Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene.". Jpn. J. Ophthalmol. 46 (5): 568–76. PMID 12457918.
Wu WW, Molday RS (2003). "Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis.". J. Biol. Chem. 278 (30): 28139–46. doi:10.1074/jbc.M302464200. PMID 12746437.
Fraternali F, Cavallo L, Musco G (2003). "Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin.". FEBS Lett. 544 (1-3): 21–6. PMID 12782284.
Sato M, Oshika T, Kaji Y, Nose H (2003). "Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome.". Ophthalmic Res. 35 (5): 295–300. doi:10.1159/000072151. PMID 12920343.