Eyes absent homolog 4 explained

Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.^{[1] [2] [3]}

This gene encodes a member of the eyes absent (EYA) subfamily of proteins. The encoded protein may act as a transcriptional activator and be important for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant nonsyndromic sensorineural 10 locus. Three transcript variants encoding distinct isoforms have been identified for this gene.

Further reading

• O'Neill ME . A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6 . Hum. Mol. Genet. . 5 . 6 . 853–856 . 1996 . 8776603 . 10.1093/hmg/5.6.853 . vanc. Marietta J . Nishimura D . 3 . Wayne . S . Van Camp . G . Van Laer . L . Negrini . C . Wilcox . ER . Chen . A . free .
• Schönberger J . Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24 . Circulation . 101 . 15 . 1812–1818 . 2000 . 10769282 . 10.1161/01.cir.101.15.1812. vanc. Levy H . Grünig E . 3 . Sangwatanaroj . S . Fatkin . D . MacRae . C . Stäcker . H . Halpin . C . Eavey . R . free .
• Strausberg RL . 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 . 16899–16903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Pfister M . A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10 . Mol. Med. . 8 . 10 . 607–611 . 2004 . 12477971 . 10.1007/BF03402171. 2039947 . vanc. Tóth T . Thiele H . 3 . Haack . B . Blin . N . Zenner . HP . Sziklai . I . Nürnberg . P . Kupka . S .
• Mungall AJ . The DNA sequence and analysis of human chromosome 6 . Nature . 425 . 6960 . 805–811 . 2003 . 14574404 . 10.1038/nature02055 . vanc. Palmer SA . Sims SK . 3 . Edwards . C. A. . Ashurst . J. L. . Wilming . L. . Jones . M. C. . Horton . R. . Hunt . S. E. . 2003Natur.425..805M . free .
• Gerhard DS . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–2127 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Schönberger J . Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss . Nat. Genet. . 37 . 4 . 418–422 . 2005 . 15735644 . 10.1038/ng1527 . vanc. Wang L . Shin JT . 3 . Kim . Sang Do . Depreux . Frederic F S . Zhu . Hao . Zon . Leonard . Pizard . Anne . Kim . Jae B . 20760254 .
• Kimura K . Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . vanc. Wakamatsu A . Suzuki Y . 3 . Ota . T . Nishikawa . T . Yamashita . R . Yamamoto . J . Sekine . M . Tsuritani . K .
• Beausoleil SA . A probability-based approach for high-throughput protein phosphorylation analysis and site localization . Nat. Biotechnol. . 24 . 10 . 1285–1292 . 2006 . 16964243 . 10.1038/nbt1240 . vanc. Villén J . Gerber SA . 3 . Rush . John . Gygi . Steven P . 14294292 .
• Makishima T . Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain . Am. J. Med. Genet. A . 143 . 14 . 1592–1598 . 2007 . 17567890 . 10.1002/ajmg.a.31793 . vanc. Madeo AC . Brewer CC . 3 . Zalewski . Christopher K. . Butman . John A. . Sachdev . Vandana . Arai . Andrew E. . Holbrook . Brenda M. . Rosing . Douglas R. . 20167944 .
• Hildebrand MS . A novel splice site mutation in EYA4 causes DFNA10 hearing loss . Am. J. Med. Genet. A . 143 . 14 . 1599–1604 . 2007 . 17568404 . 10.1002/ajmg.a.31860 . vanc. Coman D . Yang T . 3 . Gardner . R.J. Mckinlay . Rose . Elizabeth . Smith . Richard J.H. . Bahlo . Melanie . Dahl . Hans-Henrik M. . 40602803 .

Notes and References

1. Borsani G, DeGrandi A, Ballabio A, Bulfone A, Bernard L, Banfi S, Gattuso C, Mariani M, Dixon M, Donnai D, Metcalfe K, Winter R, Robertson M, Axton R, Brown A, van Heyningen V, Hanson I . EYA4, a novel vertebrate gene related to Drosophila eyes absent . Hum Mol Genet . 8 . 1 . 11–23 . Mar 1999 . 9887327 . 10.1093/hmg/8.1.11 . free .
2. Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjarg L, Morton CC, Ryan AF, Van Camp G, Smith RJ . Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus . Hum Mol Genet . 10 . 3 . 195–200 . Feb 2001 . 11159937 . 10.1093/hmg/10.3.195 . free .
3. Web site: Entrez Gene: EYA4 eyes absent homolog 4 (Drosophila).