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{{ | '''Eyes absent homolog 4''' is a [[protein]] that in humans is encoded by the ''EYA4'' [[gene]].<ref name="pmid9887327">{{cite journal | vauthors = 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 | title = EYA4, a novel vertebrate gene related to Drosophila eyes absent | journal = Hum Mol Genet | volume = 8 | issue = 1 | pages = 11–23 |date=Mar 1999 | pmid = 9887327 | pmc = | doi =10.1093/hmg/8.1.11 }}</ref><ref name="pmid11159937">{{cite journal | vauthors = Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjarg L, Morton CC, Ryan AF, Van Camp G, Smith RJ | title = Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus | journal = Hum Mol Genet | volume = 10 | issue = 3 | pages = 195–200 |date=Feb 2001 | pmid = 11159937 | pmc = | doi =10.1093/hmg/10.3.195 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: EYA4 eyes absent homolog 4 (Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2070| accessdate = }}</ref> | ||
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| summary_text = This gene encodes a member of the eyes absent (EYA) family 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.<ref name="entrez" | | summary_text = This gene encodes a member of the eyes absent (EYA) family 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.<ref name="entrez" /> | ||
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==References== | ==References== | ||
{{reflist | {{reflist}} | ||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
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| citations = | | citations = | ||
*{{cite journal | author=O'Neill ME | *{{cite journal | author=O'Neill ME |title=A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6 |journal=Hum. Mol. Genet. |volume=5 |issue= 6 |pages= 853–6 |year= 1996 |pmid= 8776603 |doi=10.1093/hmg/5.6.853 |name-list-format=vanc| author2=Marietta J | author3=Nishimura D | display-authors=3 | last4=Wayne | first4=S | last5=Van Camp | first5=G | last6=Van Laer | first6=L | last7=Negrini | first7=C | last8=Wilcox | first8=ER | last9=Chen | first9=A }} | ||
*{{cite journal | author=Schönberger J |title=Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24 |journal=Circulation |volume=101 |issue= 15 |pages= 1812–8 |year= 2000 |pmid= 10769282 |doi= 10.1161/01.cir.101.15.1812|name-list-format=vanc| author2=Levy H | author3=Grünig E | display-authors=3 | last4=Sangwatanaroj | first4=S | last5=Fatkin | first5=D | last6=MacRae | first6=C | last7=Stäcker | first7=H | last8=Halpin | first8=C | last9=Eavey | first9=R }} | |||
*{{cite journal | author=Schönberger J | *{{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }} | ||
*{{cite journal | author=Pfister M |title=A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10 |journal=Mol. Med. |volume=8 |issue= 10 |pages= 607–11 |year= 2004 |pmid= 12477971 |doi= | pmc=2039947 |name-list-format=vanc| author2=Tóth T | author3=Thiele H | display-authors=3 | last4=Haack | first4=B | last5=Blin | first5=N | last6=Zenner | first6=HP | last7=Sziklai | first7=I | last8=Nürnberg | first8=P | last9=Kupka | first9=S }} | |||
*{{cite journal | author=Strausberg RL | *{{cite journal | author=Mungall AJ |title=The DNA sequence and analysis of human chromosome 6 |journal=Nature |volume=425 |issue= 6960 |pages= 805–11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 |name-list-format=vanc| author2=Palmer SA | author3=Sims SK | display-authors=3 | last4=Edwards | first4=C. A. | last5=Ashurst | first5=J. L. | last6=Wilming | first6=L. | last7=Jones | first7=M. C. | last8=Horton | first8=R. | last9=Hunt | first9=S. E. }} | ||
*{{cite journal | author=Pfister M | *{{cite journal | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |name-list-format=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }} | ||
*{{cite journal | author=Mungall AJ | *{{cite journal | author=Schönberger J |title=Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss |journal=Nat. Genet. |volume=37 |issue= 4 |pages= 418–22 |year= 2005 |pmid= 15735644 |doi= 10.1038/ng1527 |name-list-format=vanc| author2=Wang L | author3=Shin JT | display-authors=3 | last4=Kim | first4=Sang Do | last5=Depreux | first5=Frederic F S | last6=Zhu | first6=Hao | last7=Zon | first7=Leonard | last8=Pizard | first8=Anne | last9=Kim | first9=Jae B }} | ||
*{{cite journal | author=Gerhard DS | *{{cite journal | author=Kimura K |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 |name-list-format=vanc| author2=Wakamatsu A | author3=Suzuki Y | display-authors=3 | last4=Ota | first4=T | last5=Nishikawa | first5=T | last6=Yamashita | first6=R | last7=Yamamoto | first7=J | last8=Sekine | first8=M | last9=Tsuritani | first9=K }} | ||
*{{cite journal | author=Schönberger J | *{{cite journal | author=Beausoleil SA |title=A probability-based approach for high-throughput protein phosphorylation analysis and site localization |journal=Nat. Biotechnol. |volume=24 |issue= 10 |pages= 1285–92 |year= 2006 |pmid= 16964243 |doi= 10.1038/nbt1240 |name-list-format=vanc| author2=Villén J | author3=Gerber SA | display-authors=3 | last4=Rush | first4=John | last5=Gygi | first5=Steven P }} | ||
*{{cite journal | author=Kimura K | *{{cite journal | author=Makishima T |title=Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain |journal=Am. J. Med. Genet. A |volume=143 |issue= 14 |pages= 1592–8 |year= 2007 |pmid= 17567890 |doi= 10.1002/ajmg.a.31793 |name-list-format=vanc| author2=Madeo AC | author3=Brewer CC | display-authors=3 | last4=Zalewski | first4=Christopher K. | last5=Butman | first5=John A. | last6=Sachdev | first6=Vandana | last7=Arai | first7=Andrew E. | last8=Holbrook | first8=Brenda M. | last9=Rosing | first9=Douglas R. }} | ||
*{{cite journal | author=Beausoleil SA | *{{cite journal | author=Hildebrand MS |title=A novel splice site mutation in EYA4 causes DFNA10 hearing loss |journal=Am. J. Med. Genet. A |volume=143 |issue= 14 |pages= 1599–604 |year= 2007 |pmid= 17568404 |doi= 10.1002/ajmg.a.31860 |name-list-format=vanc| author2=Coman D | author3=Yang T | display-authors=3 | last4=Gardner | first4=R.J. Mckinlay | last5=Rose | first5=Elizabeth | last6=Smith | first6=Richard J.H. | last7=Bahlo | first7=Melanie | last8=Dahl | first8=Hans-Henrik M. }} | ||
*{{cite journal | author=Makishima T | |||
*{{cite journal | author=Hildebrand MS | |||
}} | }} | ||
{{refend}} | {{refend}} | ||
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Latest revision as of 00:41, 31 August 2017
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| Location (UCSC) | n/a | n/a | |||||
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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) family 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.[3]
References
- ↑ 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 (Mar 1999). "EYA4, a novel vertebrate gene related to Drosophila eyes absent". Hum Mol Genet. 8 (1): 11–23. doi:10.1093/hmg/8.1.11. PMID 9887327.
- ↑ Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjarg L, Morton CC, Ryan AF, Van Camp G, Smith RJ (Feb 2001). "Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus". Hum Mol Genet. 10 (3): 195–200. doi:10.1093/hmg/10.3.195. PMID 11159937.
- ↑ 3.0 3.1 "Entrez Gene: EYA4 eyes absent homolog 4 (Drosophila)".
Further reading
- O'Neill ME, Marietta J, Nishimura D, et al. (1996). "A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6". Hum. Mol. Genet. 5 (6): 853–6. doi:10.1093/hmg/5.6.853. PMID 8776603.
- Schönberger J, Levy H, Grünig E, et al. (2000). "Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24". Circulation. 101 (15): 1812–8. doi:10.1161/01.cir.101.15.1812. PMID 10769282.
- 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.
- Pfister M, Tóth T, Thiele H, et al. (2004). "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): 607–11. PMC 2039947. PMID 12477971.
- Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Schönberger J, Wang L, Shin JT, et al. (2005). "Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss". Nat. Genet. 37 (4): 418–22. doi:10.1038/ng1527. PMID 15735644.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243.
- Makishima T, Madeo AC, Brewer CC, et al. (2007). "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): 1592–8. doi:10.1002/ajmg.a.31793. PMID 17567890.
- Hildebrand MS, Coman D, Yang T, et al. (2007). "A novel splice site mutation in EYA4 causes DFNA10 hearing loss". Am. J. Med. Genet. A. 143 (14): 1599–604. doi:10.1002/ajmg.a.31860. PMID 17568404.
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