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Gene Review

DFNA5  -  deafness, autosomal dominant 5

Homo sapiens

Synonyms: ICERE-1, ICERE1, Inversely correlated with estrogen receptor expression 1, Non-syndromic hearing impairment protein 5
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Disease relevance of DFNA5


High impact information on DFNA5

  • However, no significant linkage between ARHI and microsatellite markers from the DFNA5 region could be detected [2].
  • Subsequently, the DFNA5 coding region was analysed for single nucleotide polymorphisms (SNPs) [2].
  • To evaluate the hypothesis that a decrease in DFNA5 mRNA expression level contributes to the acquired etoposide resistance phenotype exhibited by MeWo ETO 1 cells, this drug-resistant line was stably transfected with the DFNA5-encoding cDNA [4].
  • By that approach it could be demonstrated that the expression level of a mRNA encoded by a gene found to be mutated in non-syndromic hearing impairment, DFNA5 (ICERE-1), was distinctly decreased in the 33-fold etoposide-resistant melanoma cell line MeWo ETO 1 [4].
  • However, the refinement of the candidate region of DFNA5 excludes the HOXA1 gene as a candidate for DFNA5 [5].

Biological context of DFNA5


Anatomical context of DFNA5

  • We cloned a novel candidate gene (CG1, candidate gene 1), which is expressed in human fetal cochlea, from the DFNA5 candidate region [5].
  • The HOXA1 gene located in 7p15 was considered to be a good candidate gene for DFNA5 as it harbours mutations leading to developmental defects of the inner ear in mice [5].
  • METHODS: We performed transfection experiments in mammalian cell lines (HEK293T and COS-1) with green fluorescent protein (GFP) tagged wildtype and mutant DFNA5 and analysed cell death with flow cytometry and fluorescence microscopy [8].

Other interactions of DFNA5

  • Mutation analysis of the CG1 gene in DFNA5 patients, however, could not reveal a disease-causing mutation [5].
  • 5. Two loci for nonsyndromic forms of deafness, DFNA5 and DFNA11, have previously been mapped to these two chromosomal regions [9].
  • Speech recognition scores were compared with those of DFNA2, DFNA5, DFNA9, and presbyacusis subjects [10].
  • Compared with subjects having DFNA2 and DFNA5, speech recognition in those with DFNA20/26 scored better at threshold levels below 85 dB hearing level, but worse at levels above 90 dB [10].

Analytical, diagnostic and therapeutic context of DFNA5


  1. Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15. van Camp, G., Coucke, P., Balemans, W., van Velzen, D., van de Bilt, C., van Laer, L., Smith, R.J., Fukushima, K., Padberg, G.W., Frants, R.R. Hum. Mol. Genet. (1995) [Pubmed]
  2. Is DFNA5 a susceptibility gene for age-related hearing impairment? Van Laer, L., DeStefano, A.L., Myers, R.H., Flothmann, K., Thys, S., Fransen, E., Gates, G.A., Van Camp, G., Baldwin, C.T. Eur. J. Hum. Genet. (2002) [Pubmed]
  3. Characterization of a gene that is inversely correlated with estrogen receptor expression (ICERE-1) in breast carcinomas. Thompson, D.A., Weigel, R.J. Eur. J. Biochem. (1998) [Pubmed]
  4. DFNA5 (ICERE-1) contributes to acquired etoposide resistance in melanoma cells. Lage, H., Helmbach, H., Grottke, C., Dietel, M., Schadendorf, D. FEBS Lett. (2001) [Pubmed]
  5. Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea. Van Laer, L., Van Camp, G., van Zuijlen, D., Green, E.D., Verstreken, M., Schatteman, I., Van de Heyning, P., Balemans, W., Coucke, P., Greinwald, J.H., Smith, R.J., Huizing, E., Willems, P. Eur. J. Hum. Genet. (1997) [Pubmed]
  6. A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment. Gregan, J., Van Laer, L., Lieto, L.D., Van Camp, G., Kearsey, S.E. Biochim. Biophys. Acta (2003) [Pubmed]
  7. The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage. Masuda, Y., Futamura, M., Kamino, H., Nakamura, Y., Kitamura, N., Ohnishi, S., Miyamoto, Y., Ichikawa, H., Ohta, T., Ohki, M., Kiyono, T., Egami, H., Baba, H., Arakawa, H. J. Hum. Genet. (2006) [Pubmed]
  8. DFNA5: hearing impairment exon instead of hearing impairment gene? Van Laer, L., Vrijens, K., Thys, S., Van Tendeloo, V.F., Smith, R.J., Van Bockstaele, D.R., Timmermans, J.P., Van Camp, G. J. Med. Genet. (2004) [Pubmed]
  9. Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11. Kastury, K., Taylor, W.E., Gutierrez, M., Ramirez, L., Coucke, P.J., Van Hauwe, P., Van Camp, G., Bhasin, S. Genomics (1997) [Pubmed]
  10. A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment. Kemperman, M.H., De Leenheer, E.M., Huygen, P.L., van Wijk, E., van Duijnhoven, G., Cremers, F.P., Kremer, H., Cremers, C.W. Arch. Otolaryngol. Head Neck Surg. (2004) [Pubmed]
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