Table of Contents Author Guidelines Submit a Manuscript
Neural Plasticity
Volume 2018, Article ID 2062346, 10 pages
https://doi.org/10.1155/2018/2062346
Research Article

Identification of Binding Partners of Deafness-Related Protein PDZD7

1Shenzhen Research Institute of Shandong University, Shenzhen, Guangdong 518057, China
2Shandong Provincial Key Laboratory of Animal Cells and Developmental Biology, School of Life Sciences, Shandong University, Jinan, Shandong 250100, China
3Co-Innovation Center of Cell Biology, Shandong Normal University, Jinan, Shandong 250014, China

Correspondence should be addressed to Zhigang Xu; nc.ude.uds@gzux and Yanfei Wang; nc.ude.uds@fy_gnaw

Received 2 December 2017; Revised 24 January 2018; Accepted 14 February 2018; Published 28 March 2018

Academic Editor: Renjie Chai

Copyright © 2018 Haibo Du et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. J. A. Boughman, M. Vernon, and K. A. Shaver, “Usher syndrome: definition and estimate of prevalence from two high-risk populations,” Journal of Chronic Diseases, vol. 36, no. 8, pp. 595–603, 1983. View at Publisher · View at Google Scholar · View at Scopus
  2. B. J. B. Keats and D. P. Corey, “The usher syndromes,” American Journal of Medical Genetics, vol. 89, no. 3, pp. 158–166, 1999. View at Google Scholar
  3. D. Well, S. Blanchard, J. Kaplan et al., “Defective myosin VIIA gene responsible for Usher syndrome type IB,” Nature, vol. 374, no. 6517, pp. 60-61, 1995. View at Publisher · View at Google Scholar
  4. J. D. Eudy, M. D. Weston, S. Yao et al., “Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa,” Science, vol. 280, no. 5370, pp. 1753–1757, 1998. View at Publisher · View at Google Scholar · View at Scopus
  5. M. Bitner-Glindzicz, B. Glaser, K. J. Lindley et al., “A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene,” Nature Genetics, vol. 26, no. 1, pp. 56–60, 2000. View at Publisher · View at Google Scholar · View at Scopus
  6. E. Verpy, M. Leibovici, I. Zwaenepoel et al., “A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C,” Nature Genetics, vol. 26, no. 1, pp. 51–55, 2000. View at Publisher · View at Google Scholar · View at Scopus
  7. Z. M. Ahmed, S. Riazuddin, S. L. Bernstein et al., “Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F,” The American Journal of Human Genetics, vol. 69, no. 1, pp. 25–34, 2001. View at Publisher · View at Google Scholar · View at Scopus
  8. K. N. Alagramam, H. Yuan, M. H. Kuehn et al., “Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F,” Human Molecular Genetics, vol. 10, no. 16, pp. 1709–2603, 2001. View at Publisher · View at Google Scholar
  9. H. Bolz, B. von Brederlow, A. Ramírez et al., “Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D,” Nature Genetics, vol. 27, no. 1, pp. 108–112, 2001. View at Publisher · View at Google Scholar · View at Scopus
  10. J. M. Bork, L. M. Peters, S. Riazuddin et al., “Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23,” The American Journal of Human Genetics, vol. 68, no. 1, pp. 26–37, 2001. View at Publisher · View at Google Scholar · View at Scopus
  11. T. Joensuu, R. Hämäläinen, B. Yuan et al., “Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3,” The American Journal of Human Genetics, vol. 69, no. 4, pp. 673–684, 2001. View at Publisher · View at Google Scholar · View at Scopus
  12. D. Weil, A. el-Amraoui, S. Masmoudi et al., “Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin,” Human Molecular Genetics, vol. 12, no. 5, pp. 463–471, 2003. View at Publisher · View at Google Scholar · View at Scopus
  13. M. D. Weston, M. W. J. Luijendijk, K. D. Humphrey, C. Möller, and W. J. Kimberling, “Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II,” The American Journal of Human Genetics, vol. 74, no. 2, pp. 357–366, 2004. View at Publisher · View at Google Scholar · View at Scopus
  14. I. Ebermann, H. P. N. Scholl, P. Charbel Issa et al., “A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss,” Human Genetics, vol. 121, no. 2, pp. 203–211, 2007. View at Publisher · View at Google Scholar · View at Scopus
  15. S. Riazuddin, I. A. Belyantseva, A. P. J. Giese et al., “Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48,” Nature Genetics, vol. 44, no. 11, pp. 1265–1271, 2012. View at Publisher · View at Google Scholar · View at Scopus
  16. P. Mathur and J. Yang, “Usher syndrome: hearing loss, retinal degeneration and associated abnormalities,” Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, vol. 1852, no. 3, pp. 406–420, 2015. View at Publisher · View at Google Scholar · View at Scopus
  17. I. Ebermann, J. B. Phillips, M. C. Liebau et al., “PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome,” The Journal of Clinical Investigation, vol. 120, no. 6, pp. 1812–1823, 2010. View at Publisher · View at Google Scholar · View at Scopus
  18. E. Schneider, T. Märker, A. Daser et al., “Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment,” Human Molecular Genetics, vol. 18, no. 4, pp. 655–666, 2009. View at Publisher · View at Google Scholar · View at Scopus
  19. K. T. Booth, H. Azaiez, K. Kahrizi et al., “PDZD7 and hearing loss: more than just a modifier,” American Journal of Medical Genetics Part A, vol. 167A, no. 12, pp. 2957–2965, 2015. View at Publisher · View at Google Scholar · View at Scopus
  20. B. Vona, S. Lechno, M. A. H. Hofrichter et al., “Confirmation of PDZD7 as a nonsyndromic hearing loss gene,” Ear and Hearing, vol. 37, no. 4, pp. e238–e246, 2016. View at Publisher · View at Google Scholar · View at Scopus
  21. J. Zou, T. Zheng, C. Ren et al., “Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice,” Human Molecular Genetics, vol. 23, no. 9, pp. 2374–2390, 2014. View at Publisher · View at Google Scholar · View at Scopus
  22. M. Grati, J. B. Shin, M. D. Weston et al., “Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network,” The Journal of Neuroscience, vol. 32, no. 41, pp. 14288–14293, 2012. View at Publisher · View at Google Scholar · View at Scopus
  23. Q. Chen, J. Zou, Z. Shen, W. Zhang, and J. Yang, “Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2,” The Journal of Biological Chemistry, vol. 289, no. 52, pp. 36070–36088, 2014. View at Publisher · View at Google Scholar · View at Scopus
  24. C. P. Morgan, J. F. Krey, M.'. Grati et al., “PDZD7-MYO7A complex identified in enriched stereocilia membranes,” eLife, vol. 5, article e18312, 2016. View at Publisher · View at Google Scholar · View at Scopus
  25. J. Zou, Q. Chen, A. Almishaal et al., “The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells,” Human Molecular Genetics, vol. 26, no. 3, pp. 624–636, 2017. View at Publisher · View at Google Scholar · View at Scopus
  26. H. Nie, Y. Liu, X. Yin et al., “Plasma membrane targeting of protocadherin 15 is regulated by the golgi-associated chaperone protein PIST,” Neural Plasticity, vol. 2016, Article ID 8580675, 9 pages, 2016. View at Publisher · View at Google Scholar · View at Scopus
  27. C. Liu, X. Zhai, B. Zhao, Y. Wang, and Z. Xu, “Cyclin I-like (CCNI2) is a cyclin-dependent kinase 5 (CDK5) activator and is involved in cell cycle regulation,” Scientific Reports, vol. 7, article 40979, 2017. View at Publisher · View at Google Scholar · View at Scopus
  28. Y. Liu, H. Nie, C. Liu et al., “Angulin proteins ILDR1 and ILDR2 regulate alternative pre-mRNA splicing through binding to splicing factors TRA2A, TRA2B, or SRSF1,” Scientific Reports, vol. 7, no. 1, p. 7466, 2017. View at Publisher · View at Google Scholar · View at Scopus
  29. S. Heller, C. A. Sheane, Z. Javed, and A. J. Hudspeth, “Molecular markers for cell types of the inner ear and candidate genes for hearing disorders,” Proceedings of the National Academy of Sciences of the United States of America, vol. 95, no. 19, pp. 11400–11405, 1998. View at Publisher · View at Google Scholar · View at Scopus
  30. E. Fujita, Y. Kouroku, S. Ozeki et al., “Oligo-astheno-teratozoospermia in mice lacking RA175/TSLC1/SynCAM/IGSF4A, a cell adhesion molecule in the immunoglobulin superfamily,” Molecular and Cellular Biology, vol. 26, no. 2, pp. 718–726, 2006. View at Publisher · View at Google Scholar · View at Scopus
  31. E. Fujita, Y. Tanabe, T. Hirose et al., “Loss of partitioning-defective-3/isotype-specific interacting protein (par-3/ASIP) in the elongating spermatid of RA175 (IGSF4A/SynCAM)-deficient mice,” The American Journal of Pathology, vol. 171, no. 6, pp. 1800–1810, 2007. View at Publisher · View at Google Scholar · View at Scopus
  32. Y. Takai, J. Miyoshi, W. Ikeda, and H. Ogita, “Nectins and nectin-like molecules: roles in contact inhibition of cell movement and proliferation,” Nature Reviews Molecular Cell Biology, vol. 9, no. 8, pp. 603–615, 2008. View at Publisher · View at Google Scholar · View at Scopus
  33. K. Mandai, Y. Rikitake, M. Mori, and Y. Takai, “Nectins and nectin-like molecules in development and disease,” Current Topics in Developmental Biology, vol. 112, pp. 197–231, 2015. View at Publisher · View at Google Scholar · View at Scopus
  34. C. Y. Logan and R. Nusse, “The Wnt signaling pathway in development and disease,” Annual Review of Cell and Developmental Biology, vol. 20, no. 1, pp. 781–810, 2004. View at Publisher · View at Google Scholar · View at Scopus
  35. R. Chai, B. Kuo, T. Wang et al., “Wnt signaling induces proliferation of sensory precursors in the postnatal mouse cochlea,” Proceedings of the National Academy of Sciences of the United States of America, vol. 109, no. 21, pp. 8167–8172, 2012. View at Publisher · View at Google Scholar · View at Scopus
  36. F. Shi, J. S. Kempfle, and A. S. B. Edge, “Wnt-responsive Lgr5-expressing stem cells are hair cell progenitors in the cochlea,” The Journal of Neuroscience, vol. 32, no. 28, pp. 9639–9648, 2012. View at Publisher · View at Google Scholar · View at Scopus
  37. F. Shi, Y. F. Cheng, X. L. Wang, and A. S. B. Edge, “β-catenin up-regulates Atoh1 expression in neural progenitor cells by interaction with an Atoh1 3 enhancer,” The Journal of Biological Chemistry, vol. 285, no. 1, pp. 392–400, 2010. View at Publisher · View at Google Scholar · View at Scopus
  38. F. Shi, L. Hu, B. E. Jacques, J. F. Mulvaney, A. Dabdoub, and A. S. B. Edge, “β-Catenin is required for hair-cell differentiation in the cochlea,” The Journal of Neuroscience, vol. 34, no. 19, pp. 6470–6479, 2014. View at Publisher · View at Google Scholar · View at Scopus
  39. F. Shi, L. Hu, and A. S. B. Edge, “Generation of hair cells in neonatal mice by β-catenin overexpression in Lgr5-positive cochlear progenitors,” Proceedings of the National Academy of Sciences of the United States of America, vol. 110, no. 34, pp. 13851–13856, 2013. View at Publisher · View at Google Scholar · View at Scopus
  40. L. Spinardi and W. Witke, “Gelsolin and diseases,” Subcellular Biochemistry, vol. 45, pp. 55–69, 2007. View at Publisher · View at Google Scholar
  41. G. H. Li, P. D. Arora, Y. Chen, C. A. McCulloch, and P. Liu, “Multifunctional roles of gelsolin in health and diseases,” Medicinal Research Reviews, vol. 32, no. 5, pp. 999–1025, 2012. View at Publisher · View at Google Scholar · View at Scopus
  42. P. Mburu, M. R. Romero, H. Hilton et al., “Gelsolin plays a role in the actin polymerization complex of hair cell stereocilia,” PLoS One, vol. 5, no. 7, article e11627, 2010. View at Publisher · View at Google Scholar · View at Scopus
  43. J. Olt, P. Mburu, S. L. Johnson et al., “The actin-binding proteins eps8 and gelsolin have complementary roles in regulating the growth and stability of mechanosensory hair bundles of mammalian cochlear outer hair cells,” PLoS One, vol. 9, no. 1, article e87331, 2014. View at Publisher · View at Google Scholar · View at Scopus
  44. A. Gulino, L. Di Marcotullio, and I. Screpanti, “The multiple functions of Numb,” Experimental Cell Research, vol. 316, no. 6, pp. 900–6, 2010. View at Publisher · View at Google Scholar · View at Scopus
  45. Z. Gao, F. L. Chi, Y. B. Huang, J. M. Yang, N. Cong, and W. Li, “Expression of Numb and Numb-like in the development of mammalian auditory sensory epithelium,” Neuroreport, vol. 22, no. 2, pp. 49–54, 2011. View at Publisher · View at Google Scholar · View at Scopus
  46. J. Shen, D. I. Scheffer, K. Y. Kwan, and D. P. Corey, “SHIELD: an integrative gene expression database for inner ear research,” Database, vol. 2015, article bav071, 2015. View at Publisher · View at Google Scholar · View at Scopus
  47. C. J. Chan, D. M. Andrews, and M. J. Smyth, “Receptors that interact with nectin and nectin-like proteins in the immunosurveillance and immunotherapy of cancer,” Current Opinion in Immunology, vol. 24, no. 2, pp. 246–251, 2012. View at Publisher · View at Google Scholar · View at Scopus
  48. Y. Rikitake, K. Mandai, and Y. Takai, “The role of nectins in different types of cell–cell adhesion,” Journal of Cell Science, vol. 125, no. 16, pp. 3713–3722, 2012. View at Publisher · View at Google Scholar · View at Scopus
  49. Y. Zhiling, E. Fujita, Y. Tanabe, T. Yamagata, T. Momoi, and M. Y. Momoi, “Mutations in the gene encoding CADM1 are associated with autism spectrum disorder,” Biochemical and Biophysical Research Communications, vol. 377, no. 3, pp. 926–929, 2008. View at Publisher · View at Google Scholar · View at Scopus
  50. E. Fujita, H. Dai, Y. Tanabe et al., “Autism spectrum disorder is related to endoplasmic reticulum stress induced by mutations in the synaptic cell adhesion molecule, CADM1,” Cell Death & Disease, vol. 1, no. 6, article e47, 2010. View at Publisher · View at Google Scholar · View at Scopus
  51. Y. Takayanagi, E. Fujita, Z. Yu et al., “Impairment of social and emotional behaviors in Cadm1-knockout mice,” Biochemical and Biophysical Research Communications, vol. 396, no. 3, pp. 703–708, 2010. View at Publisher · View at Google Scholar · View at Scopus
  52. Y. Tanabe, E. Fujita, Y. K. Hayashi et al., “Synaptic adhesion molecules in Cadm family at the neuromuscular junction,” Cell Biology International, vol. 37, no. 7, pp. 731–736, 2013. View at Publisher · View at Google Scholar · View at Scopus