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EYA4  -  EYA transcriptional coactivator and...

Homo sapiens

Synonyms: CMD1J, DFNA10, Eyes absent homolog 4
 
 
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Disease relevance of EYA4

 

High impact information on EYA4

  • Unlike previously described mutations causing dilated cardiomyopathy that affect structural proteins, this mutation deletes 4,846 bp of the human transcriptional coactivator gene EYA4 [1].
  • Although EYA proteins interact with members of the SIX and DACH protein families in a conserved network that regulates early embryonic development, this finding shows that EYA4 is also important post-developmentally for continued function of the mature organ of Corti [5].
  • We identified Eyes absent 4 (EYA4), a member of the vertebrate Eya family of transcriptional activators, as the causative gene of postlingual, progressive, autosomal dominant hearing loss at the DFNA10 locus [5].
  • A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6 [6].
  • Aberrant promoter methylation of EYA4 was studied by methylation-specific PCR using bisulfite-treated DNA from esophageal adenocarcinomas, Barrett's esophagus, and normal epithelia, and then confirmed by sequencing [4].
 

Biological context of EYA4

  • Using an extended American family in which a gene for autosomal dominant late-onset non-syndromic hearing impairment is segregating, we have identified a new locus, DFNA10, on chromosome 6 [6].
  • Eight cancer cell lines were treated with the demethylation agent 5-aza-2'-deoxycytidine, and EYA4 mRNA expression with and without treatment was quantified by real-time reverse-transcription PCR [4].
  • CONCLUSIONS: The EYA4 gene promoter is hypermethylated commonly in sporadic and colitic neoplasia and may be associated with gene silencing [7].
  • 5. The hearing phenotype in all three DFNA10 families is similar, with losses beginning in the middle frequencies and involving the low and high frequencies later in life [8].
  • We also report a Belgian family with autosomal dominant nonsyndromic hearing impairment linked to DFNA10 and a Norwegian family with the same condition in which linkage is suggestive, although maximum lod scores are only 2 [8].
 

Anatomical context of EYA4

 

Other interactions of EYA4

References

  1. Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. Schönberger, J., Wang, L., Shin, J.T., Kim, S.D., Depreux, F.F., Zhu, H., Zon, L., Pizard, A., Kim, J.B., Macrae, C.A., Mungall, A.J., Seidman, J.G., Seidman, C.E. Nat. Genet. (2005) [Pubmed]
  2. A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10. Pfister, M., Tóth, T., Thiele, H., Haack, B., Blin, N., Zenner, H.P., Sziklai, I., Nürnberg, P., Kupka, S. Mol. Med. (2002) [Pubmed]
  3. Eya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner ear. Zou, D., Silvius, D., Rodrigo-Blomqvist, S., Enerb??ck, S., Xu, P.X. Dev. Biol. (2006) [Pubmed]
  4. Frequent methylation of eyes absent 4 gene in Barrett's esophagus and esophageal adenocarcinoma. Zou, H., Osborn, N.K., Harrington, J.J., Klatt, K.K., Molina, J.R., Burgart, L.J., Ahlquist, D.A. Cancer Epidemiol. Biomarkers Prev. (2005) [Pubmed]
  5. Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Wayne, S., Robertson, N.G., DeClau, F., Chen, N., Verhoeven, K., Prasad, S., Tranebjärg, L., Morton, C.C., Ryan, A.F., Van Camp, G., Smith, R.J. Hum. Mol. Genet. (2001) [Pubmed]
  6. A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6. O'Neill, M.E., Marietta, J., Nishimura, D., Wayne, S., Van Camp, G., Van Laer, L., Negrini, C., Wilcox, E.R., Chen, A., Fukushima, K., Ni, L., Sheffield, V.C., Smith, R.J. Hum. Mol. Genet. (1996) [Pubmed]
  7. Aberrant methylation of the eyes absent 4 gene in ulcerative colitis-associated dysplasia. Osborn, N.K., Zou, H., Molina, J.R., Lesche, R., Lewin, J., Lofton-Day, C., Klatt, K.K., Harrington, J.J., Burgart, L.J., Ahlquist, D.A. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association. (2006) [Pubmed]
  8. Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment. Verhoeven, K., Fagerheim, T., Prasad, S., Wayne, S., De Clau, F., Balemans, W., Verstreken, M., Schatteman, I., Solem, B., Van de Heyning, P., Tranebjärg, L., Smith, R.J., Van Camp, G. Hum. Genet. (2000) [Pubmed]
  9. Novel method for high throughput DNA methylation marker evaluation using PNA-probe library hybridization and MALDI-TOF detection. Schatz, P., Distler, J., Berlin, K., Schuster, M. Nucleic Acids Res. (2006) [Pubmed]
  10. Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping. Chen, A.H., Mueller, R.F., Prasad, S.D., Greinwald, J.H., Manaligod, J., Muilenburg, A.C., Verhoeven, K., Van Camp, G., Smith, R.J. Arch. Otolaryngol. Head Neck Surg. (1998) [Pubmed]
  11. Audiometric analysis of a Belgian family linked to the DFNA10 locus. Verstreken, M., Declau, F., Schatteman, I., Van Velzen, D., Verhoeven, K., Van Camp, G., Willems, P.J., Kuhweide, E.W., Verhaert, E., D'Haese, P., Wuyts, F.L., Van de Heyning, P.H. The American journal of otology. (2000) [Pubmed]
 
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