Biology:USH2A
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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]
References
- ↑ "Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa". Science 280 (5370): 1753–7. Jul 1998. doi:10.1126/science.280.5370.1753. PMID 9624053. Bibcode: 1998Sci...280.1753E.
- ↑ "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. doi:10.1086/302855. PMID 10729113.
- ↑ "Entrez Gene: USH2A Usher syndrome 2A (autosomal recessive, mild)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7399.
Further reading
- "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. doi:10.1523/JNEUROSCI.0342-07.2007. PMID 17567809.
- "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. doi:10.1073/pnas.0610950104. PMID 17360538. Bibcode: 2007PNAS..104.4413L.
- "The molecular genetics of Usher syndrome.". Clin. Genet. 63 (6): 431–44. 2004. doi:10.1034/j.1399-0004.2003.00109.x. PMID 12786748. https://zenodo.org/record/1231456.
- Roland FP (1978). "Management of atypical pneumonias in view of the new entity "Legionnaire's disease".". Rhode Island Medical Journal 61 (7): 270–2. PMID 276901.
- "A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation.". Am. J. Hum. Genet. 64 (4): 1221–5. 2000. doi:10.1086/302332. PMID 10090909.
- "Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.". Hum. Mutat. 15 (4): 388. 2000. doi:10.1002/(SICI)1098-1004(200004)15:4<388::AID-HUMU27>3.0.CO;2-N. PMID 10738000.
- "Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.". Am. J. Hum. Genet. 66 (6): 1975–8. 2001. doi:10.1086/302926. PMID 10775529.
- "Identification of novel USH2A mutations: implications for the structure of USH2A protein.". Eur. J. Hum. Genet. 8 (7): 500–6. 2000. doi:10.1038/sj.ejhg.5200491. PMID 10909849.
- "Spectrum of mutations in USH2A in British patients with Usher syndrome type II.". Exp. Eye Res. 72 (5): 503–9. 2001. doi:10.1006/exer.2000.0978. PMID 11311042.
- "A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.". Am. J. Hum. Genet. 69 (1): 228–34. 2001. doi:10.1086/321269. PMID 11402400.
- "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. doi:10.1016/S0378-5955(01)00344-6. PMID 11788194.
- "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. doi:10.1002/humu.9042. PMID 12112664.
- "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. doi:10.1006/geno.2002.6823. PMID 12160733.
- "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. doi:10.1001/archopht.120.11.1566. PMID 12427073.
- "Usherin expression is highly conserved in mouse and human tissues". Hear. Res. 174 (1–2): 55–63. 2003. doi:10.1016/S0378-5955(02)00635-4. PMID 12433396.
- "Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation". J. Med. Genet. 40 (1): 8e–8. 2003. doi:10.1136/jmg.40.1.e8. PMID 12525556.
- "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. doi:10.1242/jcs.00850. PMID 14676276.
- "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. doi:10.1038/sj.ejhg.5201138. PMID 14970843.
- "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. doi:10.1086/383096. PMID 15015129.
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