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PCDH15  -  protocadherin-related 15

Homo sapiens

Synonyms: CDHR15, DFNB23, Protocadherin-15, USH1F
 
 
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Disease relevance of PCDH15

 

High impact information on PCDH15

 

Biological context of PCDH15

 

Anatomical context of PCDH15

  • Consistent with the phenotypes observed in these families, we demonstrated expression of PCDH15 in the retina and cochlea by RT-PCR and immunohistochemistry [9].
  • Importantly, whereas protocadherins are absent from the surface of normal hematopoietic cells, we describe, for the first time, that PCDH15 is expressed in cytotoxic tumor-derived T- and NK-cell lines as well as in biopsies of nasal NK/T-cell lymphomas.Oncogene (2006) 25, 2807-2811. doi:10.1038/sj.onc.1209301; published online 12 December 2005 [3].
  • Our results further strengthen the importance of protocadherin 15 in the morphogenesis and cohesion of stereocilia bundles and retinal photoreceptor cell maintenance or function [10].
  • PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23 [10].
  • The left temporal bone of patient 2, classified as Usher syndrome genetic subtype USH1D or USH1F, demonstrated the typical signs of severe cochleosaccular degeneration [11].
 

Associations of PCDH15 with chemical compounds

  • RESULTS: We showed that Pcdh15 (USH1F) interacted with harmonin PDZ2 [12].
 

Other interactions of PCDH15

  • Altogether, our data indicate that CDH23 and PCDH15 play an essential long-term role in maintaining the normal organization of the stereocilia bundle [6].
  • Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90% [7].
  • The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa [1].

References

  1. The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. Brownstein, Z., Ben-Yosef, T., Dagan, O., Frydman, M., Abeliovich, D., Sagi, M., Abraham, F.A., Taitelbaum-Swead, R., Shohat, M., Hildesheimer, M., Friedman, T.B., Avraham, K.B. Pediatr. Res. (2004) [Pubmed]
  2. A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. Ben-Yosef, T., Ness, S.L., Madeo, A.C., Bar-Lev, A., Wolfman, J.H., Ahmed, Z.M., Desnick, R.J., Willner, J.P., Avraham, K.B., Ostrer, H., Oddoux, C., Griffith, A.J., Friedman, T.B. N. Engl. J. Med. (2003) [Pubmed]
  3. Protocadherin 15 (PCDH15): a new secreted isoform and a potential marker for NK/T cell lymphomas. Rouget-Quermalet, V., Giustiniani, J., Marie-Cardine, A., Beaud, G., Besnard, F., Loyaux, D., Ferrara, P., Leroy, K., Shimizu, N., Gaulard, P., Bensussan, A., Schmitt, C. Oncogene (2006) [Pubmed]
  4. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Ahmed, Z.M., Riazuddin, S., Bernstein, S.L., Ahmed, Z., Khan, S., Griffith, A.J., Morell, R.J., Friedman, T.B., Riazuddin, S., Wilcox, E.R. Am. J. Hum. Genet. (2001) [Pubmed]
  5. Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. Astuto, L.M., Weston, M.D., Carney, C.A., Hoover, D.M., Cremers, C.W., Wagenaar, M., Moller, C., Smith, R.J., Pieke-Dahl, S., Greenberg, J., Ramesar, R., Jacobson, S.G., Ayuso, C., Heckenlively, J.R., Tamayo, M., Gorin, M.B., Reardon, W., Kimberling, W.J. Am. J. Hum. Genet. (2000) [Pubmed]
  6. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Zheng, Q.Y., Yan, D., Ouyang, X.M., Du, L.L., Yu, H., Chang, B., Johnson, K.R., Liu, X.Z. Hum. Mol. Genet. (2005) [Pubmed]
  7. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. Roux, A.F., Faugère, V., Le Guédard, S., Pallares-Ruiz, N., Vielle, A., Chambert, S., Marlin, S., Hamel, C., Gilbert, B., Malcolm, S., Claustres, M. J. Med. Genet. (2006) [Pubmed]
  8. Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome. Le Guédard, S., Faugère, V., Malcolm, S., Claustres, M., Roux, A.F. Mol. Vis. (2007) [Pubmed]
  9. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Alagramam, K.N., Yuan, H., Kuehn, M.H., Murcia, C.L., Wayne, S., Srisailpathy, C.R., Lowry, R.B., Knaus, R., Van Laer, L., Bernier, F.P., Schwartz, S., Lee, C., Morton, C.C., Mullins, R.F., Ramesh, A., Van Camp, G., Hageman, G.S., Woychik, R.P., Smith, R.J., Hagemen, G.S. Hum. Mol. Genet. (2001) [Pubmed]
  10. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Ahmed, Z.M., Riazuddin, S., Ahmad, J., Bernstein, S.L., Guo, Y., Sabar, M.F., Sieving, P., Riazuddin, S., Griffith, A.J., Friedman, T.B., Belyantseva, I.A., Wilcox, E.R. Hum. Mol. Genet. (2003) [Pubmed]
  11. Histopathologic features of the temporal bone in usher syndrome type I. Wagenaar, M., Schuknecht, H., Nadol, J., Benraad-Van Rens, M., Pieke-Dahl, S., Kimberling, W., Cremers, C. Arch. Otolaryngol. Head Neck Surg. (2000) [Pubmed]
  12. Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C). Reiners, J., Märker, T., Jürgens, K., Reidel, B., Wolfrum, U. Mol. Vis. (2005) [Pubmed]
 
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