{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T22:06:41Z","timestamp":1790978801671,"version":"4.1.0"},"reference-count":22,"publisher":"Cold Spring Harbor Laboratory","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genome Res."],"published-print":{"date-parts":[[2001,10,1]]},"abstract":"<jats:p>Anhidrotic ectodermal dysplasia (ED1) is characterized by hypotrichosis, reduced number of sweat glands, and incisior anodontia in human, mouse, and cattle. In affected humans and mice, mutations in the <jats:italic>ED1<\/jats:italic> gene coding for ectodysplasin 1 are found. Ectodysplasin 1 is a novel trimeric transmembrane protein with an extracellular TNF-like signaling domain that is believed to be involved in the formation of hair follicles and tooth buds during fetal development. We report the construction of a 480-kb BAC contig harboring the complete bovine <jats:italic>ED1<\/jats:italic> gene on BTA Xq22\u2013Xq24. Physical mapping and sequence analysis of the coding parts of the<jats:italic>ED1<\/jats:italic> gene revealed that a large genomic region including exon 3 of the <jats:italic>ED1<\/jats:italic> gene is deleted in cattle with anhidrotic ectodermal dysplasia in a family of German Holstein cattle with three affected maternal half sibs.<\/jats:p><jats:p>[The sequence data described in this paper have been submitted to the EMBL nucleotide database under accession nos. <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"AJ300468\" ext-link-type=\"gen\" xlink:type=\"simple\">AJ300468<\/jats:ext-link>, <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"AJ300469\" ext-link-type=\"gen\" xlink:type=\"simple\">AJ300469<\/jats:ext-link>, and <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"AJ278907\" ext-link-type=\"gen\" xlink:type=\"simple\">AJ278907<\/jats:ext-link>.]<\/jats:p>","DOI":"10.1101\/gr.182501","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T23:59:15Z","timestamp":1027727955000},"page":"1699-1705","source":"Crossref","is-referenced-by-count":60,"title":["Partial Deletion of the Bovine <i>ED1<\/i> Gene Causes Anhidrotic Ectodermal Dysplasia in Cattle"],"prefix":"10.1101","volume":"11","author":[{"given":"Cord","family":"Dr\u00f6gem\u00fcller","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ottmar","family":"Distl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tosso","family":"Leeb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2001,9,20]]},"reference":[{"key":"2021111810460697000_11.10.1699.1","unstructured":"Ausubel F.M. Brent R. Kingston R.E. Moore D.D. Seidman J.G. Smith J.A. Struhl K. (1995) Current protocols in molecular biology. (Wiley, New York, NY)."},{"key":"2021111810460697000_11.10.1699.2","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1101\/gr.145900","article-title":"An ordered comparative map of the cattle and human genomes.","volume":"10","author":"Band","year":"2000","journal-title":"Genome Res."},{"key":"2021111810460697000_11.10.1699.3","doi-asserted-by":"crossref","first-page":"1661","DOI":"10.1093\/hmg\/7.11.1661","article-title":"The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.","volume":"7","author":"Bay\u00e9s","year":"1998","journal-title":"Hum. Mol. 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