“CDH23”的意思、由来-开放百科全书

Function

This gene is a member of the cadherin superfamily, genes encoding calcium dependent cell-cell adhesion glycoproteins. The protein encoded by this gene is a large, single-pass transmembrane protein composed of an extracellular domain containing 27 repeats that show significant homology to the cadherin ectodomain. Expressed in the neurosensory epithelium, the protein is thought to be involved in stereocilia organization and hair bundle formation. Specifically, it is thought to interact with protocadherin 15 to form tip-link filaments.^[3]

Clinical significance

The gene is located in a region containing the human {{SWL|type=mutation_results_in|target=deafness}} loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this novel cadherin-like gene.^[4]^[5]

Interactions

References

1. ^{{cite journal | vauthors = Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C | title = Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D | journal = Nature Genetics | volume = 27 | issue = 1 | pages = 108–12 | year = 2001 | pmid = 11138009 | doi = 10.1038/83667 }}
2. ^{{cite journal | vauthors = Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ | title = Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23 | journal = The American Journal of Human Genetics | volume = 68 | issue = 1 | pages = 26–37 | year = 2001 | pmid = 11090341 | pmc = 1234923 | doi = 10.1086/316954 }}
3. ^{{cite journal | vauthors = Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Müller U, Kachar B | title = Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells | journal = Nature | volume = 449 | issue = 7158 | pages = 87–91 | year = 2007 | pmid = 17805295 | doi = 10.1038/nature06091 }}
4. ^¹{{EntrezGene|64072}}
5. ^{{cite journal | vauthors = Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK | title = Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing | journal = BMC Medical Genetics | volume = 15 | issue = 1 | pages = 46 | year = 2014 | pmid = 24767429 | pmc = 4036425 | doi = 10.1186/1471-2350-15-46 }}
6. ^{{cite journal | vauthors = Gorski M, Tin A, Garnaas M, et al. | title = Genome-wide association study of kidney function decline in individuals of European descent | journal = Kidney Int. | volume = 87 | issue = 5 | pages = 1017–29 | year = 2015 | pmid = 25493955 | pmc = 4425568 | doi = 10.1038/ki.2014.361 }}
7. ^{{cite journal | vauthors = Boëda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C | title = Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle | journal = The EMBO Journal | volume = 21 | issue = 24 | pages = 6689–99 | year = 2002 | pmid = 12485990 | pmc = 139109 | doi = 10.1093/emboj/cdf689 }}
8. ^{{cite journal | vauthors = Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U | title = The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions | journal = Proceedings of the National Academy of Sciences | volume = 99 | issue = 23 | pages = 14946–51 | year = 2002 | pmid = 12407180 | pmc = 137525 | doi = 10.1073/pnas.232579599 }}

Further reading

{{cite journal | vauthors = McHugh RK, Friedman RA | title = Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum | journal = The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology | volume = 288A | issue = 4 | pages = 370–81 | year = 2006 | pmid = 16550584 | doi = 10.1002/ar.a.20297 }}

{{cite journal | vauthors = Marres HA, Cremers CW | title = Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers | journal = Archives of Otolaryngology–Head & Neck Surgery | volume = 115 | issue = 5 | pages = 591–5 | year = 1989 | pmid = 2706105 | doi=10.1001/archotol.1989.01860290049013}}

{{cite journal | vauthors = Chaib H, Place C, Salem N, Dodé C, Chardenoux S, Weissenbach J, el Zir E, Loiselet J, Petit C | title = Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22 | journal = Human Molecular Genetics | volume = 5 | issue = 7 | pages = 1061–4 | year = 1996 | pmid = 8817348 | doi = 10.1093/hmg/5.7.1061 }}

{{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Research | volume = 6 | issue = 9 | pages = 791–806 | year = 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 }}

{{cite journal | vauthors = Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, Sheffield VC, Smith RJ | title = Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10 | journal = Human Molecular Genetics | volume = 5 | issue = 10 | pages = 1689–92 | year = 1996 | pmid = 8894709 | doi = 10.1093/hmg/5.10.1689 }}

{{cite journal | vauthors = Di Palma F, Holme RH, Bryda EC, Belyantseva IA, Pellegrino R, Kachar B, Steel KP, Noben-Trauth K | title = Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D | journal = Nature Genetics | volume = 27 | issue = 1 | pages = 103–7 | year = 2001 | pmid = 11138008 | doi = 10.1038/83660 }}

{{cite journal | vauthors = Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O | title = Prediction of the Coding Sequences of Unidentified Human Genes. XX. The Complete Sequences of 100 New cDNA Clones from Brain Which Code for Large Proteins in vitro | journal = DNA Research | volume = 8 | issue = 2 | pages = 85–95 | year = 2001 | pmid = 11347906 | doi = 10.1093/dnares/8.2.85 }}

{{cite journal | vauthors = Wilson SM, Householder DB, Coppola V, Tessarollo L, Fritzsch B, Lee EC, Goss D, Carlson GA, Copeland NG, Jenkins NA | title = Mutations in Cdh23 Cause Nonsyndromic Hearing Loss in waltzer Mice | journal = Genomics | volume = 74 | issue = 2 | pages = 228–33 | year = 2001 | pmid = 11386759 | doi = 10.1006/geno.2001.6554 }}

{{cite journal | vauthors = Nakajima D, Nakayama M, Kikuno R, Hirosawa M, Nagase T, Ohara O | title = Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs | journal = Molecular Brain Research | volume = 94 | issue = 1–2 | pages = 85–95 | year = 2001 | pmid = 11597768 | doi = 10.1016/S0169-328X(01)00218-2 }}

{{cite journal | vauthors = von Brederlow B, Bolz H, Janecke A, ((La O Cabrera A)), Rudolph G, Lorenz B, Schwinger E, Gal A | title = Identification and in vitro expression of novelCDH23 mutations of patients with Usher syndrome type 1D | journal = Human Mutation | volume = 19 | issue = 3 | pages = 268–73 | year = 2002 | pmid = 11857743 | doi = 10.1002/humu.10049 }}

{{cite journal | vauthors = Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ | title = CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness | journal = The American Journal of Human Genetics | volume = 71 | issue = 2 | pages = 262–75 | year = 2002 | pmid = 12075507 | doi = 10.1086/341558 | pmc=379159}}

{{cite journal | vauthors = Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U | title = The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions | journal = Proceedings of the National Academy of Sciences | volume = 99 | issue = 23 | pages = 14946–51 | year = 2002 | pmid = 12407180 | pmc = 137525 | doi = 10.1073/pnas.232579599 }}

{{cite journal | vauthors = de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H | title = Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family | journal = Hum. Genet. | volume = 112 | issue = 2 | pages = 156–63 | date = February 2003 | pmid = 12522556 | doi = 10.1007/s00439-002-0833-0 }}

{{cite journal | vauthors = Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C | title = Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin | journal = Human Molecular Genetics | volume = 12 | issue = 5 | pages = 463–71 | year = 2003 | pmid = 12588794 | doi = 10.1093/hmg/ddg051 }}

Function

Clinical significance

Interactions

References

Further reading

External links