OPHN1
From Wikipedia, the free encyclopedia
Oligophrenin-1 is a protein that in humans is encoded by the OPHN1 gene.[1][2][3]
Oligophrenin 1 has 25 exons and encodes a Rho-GTPase-activating protein. The Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for non-specific X-linked mental retardation.[3]
References
- ↑ Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Bruls T, Chabrolle JP, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D (Aug 1997). "Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation". Eur J Hum Genet 5 (2): 105–9. PMID 9195162.
- ↑ Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrie A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J (May 1998). "Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation". Nature 392 (6679): 923–6. doi:10.1038/31940. PMID 9582072.
- ↑ 3.0 3.1 "Entrez Gene: OPHN1 oligophrenin 1".
Further reading
- Castellví-Bel S, Milà M (2001). "Genes responsible for nonspecific mental retardation". Mol. Genet. Metab. 72 (2): 104–8. doi:10.1006/mgme.2000.3128. PMID 11161835.
- Ramakers GJ (2002). "Rho proteins, mental retardation and the cellular basis of cognition". Trends Neurosci. 25 (4): 191–9. doi:10.1016/S0166-2236(00)02118-4. PMID 11998687.
- Bergmann C, Zerres K, Senderek J et al. (2003). "Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia". Brain 126 (Pt 7): 1537–44. doi:10.1093/brain/awg173. PMID 12805098.
- Tentler D, Gustavsson P, Leisti J et al. (1999). "Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia". Eur. J. Hum. Genet. 7 (5): 541–8. doi:10.1038/sj.ejhg.5200320. PMID 10439959.
- Billuart P, Chelly J, Carrié A et al. (2000). "Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation". Ann. Genet. 43 (1): 5–9. doi:10.1016/S0003-3995(00)00015-0. PMID 10818214.
- Pinheiro NA, Caballero OL, Soares F et al. (2001). "Significant overexpression of oligophrenin-1 in colorectal tumors detected by cDNA microarray analysis". Cancer Lett. 172 (1): 67–73. doi:10.1016/S0304-3835(01)00625-5. PMID 11595131.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Kitano T, Schwarz C, Nickel B, Pääbo S (2004). "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees". Mol. Biol. Evol. 20 (8): 1281–9. doi:10.1093/molbev/msg134. PMID 12777533.
- Philip N, Chabrol B, Lossi AM et al. (2003). "Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia". J. Med. Genet. 40 (6): 441–6. doi:10.1136/jmg.40.6.441. PMC 1735502. PMID 12807966.
- Xiao J, Neylon CB, Nicholson GA, Furness JB (2004). "Evidence that a major site of expression of the RHO-GTPASE activating protein, oligophrenin-1, is peripheral myelin". Neuroscience 124 (4): 781–7. doi:10.1016/j.neuroscience.2004.01.007. PMID 15026118.
- Ross MT, Grafham DV, Coffey AJ et al. (2005). "The DNA sequence of the human X chromosome". Nature 434 (7031): 325–37. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.
- Zanni G, Saillour Y, Nagara M et al. (2006). "Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia". Neurology 65 (9): 1364–9. doi:10.1212/01.wnl.0000182813.94713.ee. PMID 16221952.
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