USH2A explained

Usherin is a protein that in humans is encoded by the USH2A gene.^{[1] [2]}

This gene encodes the protein Usherin that contains laminin EGF motifs, a pentraxin domain, and many fibronectin type III motifs. The encoded basement membrane-associated protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa. Alternatively spliced transcript variants that encode different isoforms have been described.^[3]

Further reading

• Michalski N, Michel V, Bahloul A, Lefèvre G, Barral J, Yagi H, Chardenoux S, Weil D, Martin P, Hardelin JP, Sato M, Petit C . Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning.. J. Neurosci.. 27. 24 . 6478–88 . 2007 . 17567809 . 10.1523/JNEUROSCI.0342-07.2007 . 6672440. free.
• Liu X, Bulgakov OV, Darrow KN, Pawlyk B, Adamian M, Liberman MC, Li T . Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. . Proc Natl Acad Sci U S A . 104. 11 . 4413–8 . 2007 . 17360538 . 10.1073/pnas.0610950104 . 1838616 . 2007PNAS..104.4413L . free .
• Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER . The molecular genetics of Usher syndrome. . Clin. Genet. . 63 . 6 . 431–44 . 2004 . 12786748 . 10.1034/j.1399-0004.2003.00109.x . 21024265 .
• Roland FP . Management of atypical pneumonias in view of the new entity "Legionnaire's disease". . Rhode Island Medical Journal . 61 . 7 . 270–2 . 1978 . 276901 .
• Liu XZ, Hope C, Liang CY, etal . A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. . Am. J. Hum. Genet. . 64 . 4 . 1221–5 . 2000 . 10090909 . 10.1086/302332 . 1377848 .
• Adato A, Weston MD, Berry A, etal . Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. . Hum. Mutat. . 15 . 4 . 388 . 2000 . 10738000 . 10.1002/(SICI)1098-1004(200004)15:4<388::AID-HUMU27>3.0.CO;2-N . 23146564 . free .
• Rivolta C, Sweklo EA, Berson EL, Dryja TP . Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. . Am. J. Hum. Genet. . 66 . 6 . 1975–8 . 2001 . 10775529 . 10.1086/302926 . 1378039 .
• Dreyer B, Tranebjaerg L, Rosenberg T, etal . Identification of novel USH2A mutations: implications for the structure of USH2A protein. . Eur. J. Hum. Genet. . 8 . 7 . 500–6 . 2000 . 10909849 . 10.1038/sj.ejhg.5200491 . free .
• Leroy BP, Aragon-Martin JA, Weston MD, etal . Spectrum of mutations in USH2A in British patients with Usher syndrome type II. . Exp. Eye Res. . 72 . 5 . 503–9 . 2001 . 11311042 . 10.1006/exer.2000.0978 .
• Dreyer B, Tranebjaerg L, Brox V, etal . A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. . Am. J. Hum. Genet. . 69 . 1 . 228–34 . 2001 . 11402400 . 10.1086/321269 . 1226039 .
• Bhattacharya G, Miller C, Kimberling WJ, etal . Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa. . Hear. Res. . 163 . 1–2 . 1–11 . 2002 . 11788194 . 10.1016/S0378-5955(01)00344-6 . 25738905 .
• Nájera C, Beneyto M, Blanca J, etal . Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively . Hum. Mutat. . 20 . 1 . 76–7 . 2002 . 12112664 . 10.1002/humu.9042 . free .
• Huang D, Eudy JD, Uzvolgyi E, etal . Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease . Genomics . 80 . 2 . 195–203 . 2003 . 12160733 . 10.1006/geno.2002.6823 .
• Rivolta C, Berson EL, Dryja TP . Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A . Arch. Ophthalmol. . 120 . 11 . 1566–71 . 2002 . 12427073 . 10.1001/archopht.120.11.1566. 12112879 .
• Pearsall N, Bhattacharya G, Wisecarver J, etal . Usherin expression is highly conserved in mouse and human tissues . Hear. Res. . 174 . 1–2 . 55–63 . 2003 . 12433396 . 10.1016/S0378-5955(02)00635-4 . 31139976 .
• Bernal S, Ayuso C, Antiñolo G, etal . Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation . J. Med. Genet. . 40 . 1 . 8e–8 . 2003 . 12525556 . 10.1136/jmg.40.1.e8 . 1735247 .
• Bhattacharya G, Kalluri R, Orten DJ, etal . A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure . J. Cell Sci. . 117 . Pt 2 . 233–42 . 2004 . 14676276 . 10.1242/jcs.00850 . 26953433 .
• Aller E, Nájera C, Millán JM, etal . Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments . Eur. J. Hum. Genet. . 12 . 5 . 407–10 . 2004 . 14970843 . 10.1038/sj.ejhg.5201138 . free .
• van Wijk E, Pennings RJ, te Brinke H, etal . Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II . Am. J. Hum. Genet. . 74 . 4 . 738–44 . 2004 . 15015129 . 10.1086/383096 . 1181950 .

External links

• GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type II

Notes and References

1. Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB, Beisel KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ, Sumegi J . Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa . Science . 280 . 5370 . 1753–7 . Jul 1998 . 9624053 . 10.1126/science.280.5370.1753 . 1998Sci...280.1753E .
2. Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ . Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa . Am J Hum Genet . 66 . 4 . 1199–210 . May 2000 . 10729113 . 1288187 . 10.1086/302855 .
3. Web site: Entrez Gene: USH2A Usher syndrome 2A (autosomal recessive, mild).