| 释义 |
- Function
- References
- Further reading
- External links
{{Infobox_gene}}Ectodysplasin A (EDA) is a protein that in humans is encoded by the EDA gene. Ectodysplasin A is a transmembrane protein of the TNF family which plays an important role in the development of ectodermal tissues such as skin in humans.[1][2] It is recognized by the ectodysplasin A receptor. Function The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Along with c-Met, it has been shown to be involved in the differentiation of anatomical placodes, precursors of scales, feathers and hair follicles in vertebrates.[3] Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene.[2] References 1. ^{{cite journal | vauthors = Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho-Kere U, de la Chapelle A, Schlessinger D | title = X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein | journal = Nat Genet | volume = 13 | issue = 4 | pages = 409–16 | date = Sep 1996 | pmid = 8696334 | pmc = | doi = 10.1038/ng0895-409 }}
2. ^1 {{cite web | title = Entrez Gene: EDA ectodysplasin A| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1896| accessdate = }}
3. ^{{cite journal | vauthors = Barrow-McGee R, Kishi N, Joffre C, Ménard L, Hervieu A, Bakhouche BA, Noval AJ, Mai A, Guzmán C, Robert-Masson L, Iturrioz X, Hulit J, Brennan CH, Hart IR, Parker PJ, Ivaska J, Kermorgant S | display-authors = 6 | title = Beta 1-integrin-c-Met cooperation reveals an inside-in survival signalling on autophagy-related endomembranes | journal = Nature Communications | volume = 7 | issue = | pages = 11942 | year = 2016 | pmid = 27336951 | doi = 10.1038/ncomms11942 | pmc=4931016| bibcode = 2016NatCo...711942B }}
{{Clear}} Further reading {{refbegin|33em}}- {{cite journal | vauthors = Cui CY, Schlessinger D | title = EDA signaling and skin appendage development | journal = Cell Cycle | volume = 5 | issue = 21 | pages = 2477–83 | year = 2007 | pmid = 17102627 | pmc = 2860309 | doi = 10.4161/cc.5.21.3403 }}
- {{cite journal | vauthors = Srivastava AK, Montonen O, Saarialho-Kere U, Chen E, Baybayan P, Pispa J, Limon J, Schlessinger D, Kere J | title = Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed | journal = Am. J. Hum. Genet. | volume = 58 | issue = 1 | pages = 126–32 | year = 1996 | pmid = 8554048 | pmc = 1914968 | doi = }}
- {{cite journal | vauthors = Montonen O, Ezer S, Saarialho-Kere UK, Herva R, Karjalainen-Lindsberg ML, Kaitila I, Schlessinger D, Srivastava AK, Thesleff I, Kere J | title = The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone | journal = J. Histochem. Cytochem. | volume = 46 | issue = 3 | pages = 281–9 | year = 1998 | pmid = 9487109 | doi = 10.1177/002215549804600301 }}
- {{cite journal | vauthors = Ferguson BM, Thomas NS, Munoz F, Morgan D, Clarke A, Zonana J | title = Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications | journal = J. Med. Genet. | volume = 35 | issue = 2 | pages = 112–5 | year = 1998 | pmid = 9507389 | pmc = 1051213 | doi = 10.1136/jmg.35.2.112 }}
- {{cite journal | vauthors = Hertz JM, Nørgaard Hansen K, Juncker I, Kjeldsen M, Gregersen N | title = A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia | journal = Clin. Genet. | volume = 53 | issue = 3 | pages = 205–9 | year = 1998 | pmid = 9630076 | doi = 10.1111/j.1399-0004.1998.tb02678.x }}
- {{cite journal | vauthors = Monreal AW, Zonana J, Ferguson B | title = Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations | journal = Am. J. Hum. Genet. | volume = 63 | issue = 2 | pages = 380–9 | year = 1998 | pmid = 9683615 | pmc = 1377324 | doi = 10.1086/301984 }}
- {{cite journal | vauthors = Bayés M, Hartung AJ, Ezer S, Pispa J, Thesleff I, Srivastava AK, Kere J | title = The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats | journal = Hum. Mol. Genet. | volume = 7 | issue = 11 | pages = 1661–9 | year = 1998 | pmid = 9736768 | doi = 10.1093/hmg/7.11.1661 }}
- {{cite journal | vauthors = Martínez F, Millán JM, Orellana C, Prieto F | title = X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg) | journal = J. Invest. Dermatol. | volume = 113 | issue = 2 | pages = 285–6 | year = 1999 | pmid = 10469321 | doi = 10.1046/j.1523-1747.1999.00656.x }}
- {{cite journal | vauthors = Ezer S, Bayés M, Elomaa O, Schlessinger D, Kere J | title = Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells | journal = Hum. Mol. Genet. | volume = 8 | issue = 11 | pages = 2079–86 | year = 1999 | pmid = 10484778 | doi = 10.1093/hmg/8.11.2079 }}
- {{cite journal | vauthors = Yan M, Wang LC, Hymowitz SG, Schilbach S, Lee J, Goddard A, de Vos AM, Gao WQ, Dixit VM | title = Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors | journal = Science | volume = 290 | issue = 5491 | pages = 523–7 | year = 2000 | pmid = 11039935 | doi = 10.1126/science.290.5491.523 | bibcode = 2000Sci...290..523Y }}
- {{cite journal | vauthors = Drögemüller C, Distl O, Leeb T | title = Identification of a highly polymorphic microsatellite within the bovine ectodysplasin A (ED1) gene on BTA Xq22-24 | journal = Anim. Genet. | volume = 31 | issue = 6 | pages = 416 | year = 2001 | pmid = 11167539 | doi = 10.1046/j.1365-2052.2000.00693.x }}
- {{cite journal | vauthors = Elomaa O, Pulkkinen K, Hannelius U, Mikkola M, Saarialho-Kere U, Kere J | title = Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein | journal = Hum. Mol. Genet. | volume = 10 | issue = 9 | pages = 953–62 | year = 2001 | pmid = 11309369 | doi = 10.1093/hmg/10.9.953 }}
- {{cite journal | vauthors = Vincent MC, Biancalana V, Ginisty D, Mandel JL, Calvas P | title = Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia | journal = Eur. J. Hum. Genet. | volume = 9 | issue = 5 | pages = 355–63 | year = 2001 | pmid = 11378824 | doi = 10.1038/sj.ejhg.5200635 }}
- {{cite journal | vauthors = Chen Y, Molloy SS, Thomas L, Gambee J, Bächinger HP, Ferguson B, Zonana J, Thomas G, Morris NP | title = Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 98 | issue = 13 | pages = 7218–23 | year = 2001 | pmid = 11416205 | pmc = 34649 | doi = 10.1073/pnas.131076098 | bibcode = 2001PNAS...98.7218C }}
- {{cite journal | vauthors = Sinha SK, Zachariah S, Quiñones HI, Shindo M, Chaudhary PM | title = Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor | journal = J. Biol. Chem. | volume = 277 | issue = 47 | pages = 44953–61 | year = 2003 | pmid = 12270937 | doi = 10.1074/jbc.M207923200 }}
- {{cite journal | vauthors = Kobielak A, Kobielak K, Biedziak B, Trzeciak WH | title = A novel mutation A1270G of the EDA1 gene causing Tyr343Cys substitution in ectodysplasin-A in a family with anhidrotic ectodermal dysplasia | journal = Acta Biochim. Pol. | volume = 50 | issue = 1 | pages = 255–8 | year = 2003 | pmid = 12673367 }}
- {{cite journal | vauthors = Zhang XJ, Chen JJ, Song YX, Yang S, Xiong XY, Zhang AP, He PP, Gao M, Li YB, Lin D, Huang W | title = Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia | journal = Arch. Dermatol. Res. | volume = 295 | issue = 1 | pages = 38–42 | year = 2004 | pmid = 12682853 | doi = 10.1007/s00403-003-0394-7 }}
- {{cite journal | vauthors = Nishibu A, Hashiguchi T, Yotsumoto S, Takahashi M, Nakamura K, Kanzaki T, Kaneko F | title = A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal dysplasia | journal = Dermatology | volume = 207 | issue = 2 | pages = 178–81 | year = 2004 | pmid = 12920369 | doi = 10.1159/000071790 }}
{{refend}} External links - [https://www.ncbi.nlm.nih.gov/books/NBK1112/ GeneReview/NIH/UW entry on Hypohidrotic Ectodermal Dysplasia]
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