DFNA5 explained

Non-syndromic hearing impairment protein 5 is a protein that in humans is encoded by the DFNA5 gene.^{[1] [2] [3]}

Function

Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene.

The observation that DFNA5 is epigenetically inactivated in a large number of cancers of frequent types (gastric, colorectal, and breast) is another important finding and is in line with its apoptosis-inducing properties. Indeed, if apoptosis is an intrinsic feature of DFNA5, shutting the gene down in tumor cells makes them more susceptible to uncontrolled cellular growth. Moreover, the fact that DFNA5 is regulated by P53 strongly suggests that DFNA5 is a tumor suppressor gene.^[4]

References

Further reading

• Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA . A "double adaptor" method for improved shotgun library construction . Anal. Biochem. . 236 . 1 . 107–13 . 1996 . 8619474 . 10.1006/abio.1996.0138 .
• Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA . Large-scale concatenation cDNA sequencing . Genome Res. . 7 . 4 . 353–8 . 1997 . 9110174 . 139146 . 10.1101/gr.7.4.353 .
• Thompson DA, Weigel RJ . Characterization of a gene that is inversely correlated with estrogen receptor expression (ICERE-1) in breast carcinomas . Eur. J. Biochem. . 252 . 1 . 169–77 . 1998 . 9523727 . 10.1046/j.1432-1327.1998.2520169.x .
• Van Laer L, Huizing EH, Verstreken M, van Zuijlen D, Wauters JG, Bossuyt PJ, Van de Heyning P, McGuirt WT, Smith RJ, Willems PJ, Legan PK, Richardson GP, Van Camp G . Nonsyndromic hearing impairment is associated with a mutation in DFNA5 . Nat. Genet. . 20 . 2 . 194–7 . 1998 . 9771715 . 10.1038/2503 . 23534085 .
• Grottke C, Mantwill K, Dietel M, Schadendorf D, Lage H . Identification of differentially expressed genes in human melanoma cells with acquired resistance to various antineoplastic drugs . Int. J. Cancer . 88 . 4 . 535–46 . 2000 . 11058868 . 10.1002/1097-0215(20001115)88:4<535::AID-IJC4>3.0.CO;2-V . 24030621 .
• Van Laer L, DeStefano AL, Myers RH, Flothmann K, Thys S, Fransen E, Gates GA, Van Camp G, Baldwin CT . Is DFNA5 a susceptibility gene for age-related hearing impairment? . Eur. J. Hum. Genet. . 10 . 12 . 883–6 . 2003 . 12461698 . 10.1038/sj.ejhg.5200878 . free .
• Gregan J, Van Laer L, Lieto LD, Van Camp G, Kearsey SE . A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment . Biochim. Biophys. Acta . 1638 . 2 . 179–86 . 2003 . 12853124 . 10.1016/s0925-4439(03)00083-8 . free . 10067/429010151162165141 . free .
• Yu C, Meng X, Zhang S, Zhao G, Hu L, Kong X . A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family . Genomics . 82 . 5 . 575–9 . 2004 . 14559215 . 10.1016/S0888-7543(03)00175-7 .
• Bischoff AM, Luijendijk MW, Huygen PL, van Duijnhoven G, De Leenheer EM, Oudesluijs GG, Van Laer L, Cremers FP, Cremers CW, Kremer H . A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation . Audiol. Neurootol. . 9 . 1 . 34–46 . 2004 . 14676472 . 10.1159/000074185 . 20139112 .
• 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 . The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage . J. Hum. Genet. . 51 . 8 . 652–64 . 2006 . 16897187 . 10.1007/s10038-006-0004-6 . free .
• Van Laer L, Meyer NC, Malekpour M, Riazalhosseini Y, Moghannibashi M, Kahrizi K, Vandevelde A, Alasti F, Najmabadi H, Van Camp G, Smith RJ . A novel DFNA5 mutation does not cause hearing loss in an Iranian family . J. Hum. Genet. . 52 . 6 . 549–52 . 2007 . 17427029 . 10.1007/s10038-007-0137-2 . 24786210 . free .

External links

• GeneReviews/NCBI/NIH/UW entry on Deafness and Hereditary Hearing Loss Overview

Notes and References

1. van Camp G, Coucke P, Balemans W, van Velzen D, van de Bilt C, van Laer L, Smith RJ, Fukushima K, Padberg GW, Frants RR . Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15 . Hum Mol Genet . 4 . 11 . 2159–63 . Mar 1996 . 8589696 . 10.1093/hmg/4.11.2159 . 2066/20568 . free .
2. Van Laer L, Van Camp G, van Zuijlen D, Green ED, Verstreken M, Schatteman I, Van de Heyning P, Balemans W, Coucke P, Greinwald JH, Smith RJ, Huizing E, Willems P . 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 . Eur J Hum Genet . 5 . 6 . 397–405 . Mar 1998 . 9450185 . 10.1159/000484798.
3. Web site: Entrez Gene: DFNA5 deafness, autosomal dominant 5.
4. de Beeck KO, Van Laer L, Van Camp G . DFNA5, a gene involved in hearing loss and cancer: a review . The Annals of Otology, Rhinology, and Laryngology . 121 . 3 . 197–207 . Mar 2012 . 22530481 . 10.1177/000348941212100310 . 32637216 .