{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T09:37:26Z","timestamp":1789983446384,"version":"4.0.1"},"reference-count":28,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2016,9,1]],"date-time":"2016-09-01T00:00:00Z","timestamp":1472688000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>X-linked hypohidrotic ectodermal dysplasia (XLHED) caused by variants in the EDA gene represents the most common ectodermal dysplasia in humans. We investigated three male mixed-breed dogs with an ectodermal dysplasia phenotype characterized by marked hypotrichosis and multifocal complete alopecia, almost complete absence of sweat and sebaceous glands, and altered dentition with missing and abnormally shaped teeth. Analysis of SNP chip genotypes and whole genome sequence data from the three affected dogs revealed that the affected dogs shared the same haplotype on a large segment of the X-chromosome, including the EDA gene. Unexpectedly, the whole genome sequence data did not reveal any nonsynonymous EDA variant in the affected dogs. We therefore performed an RNA-seq experiment on skin biopsies to search for changes in the transcriptome. This analysis revealed that the EDA transcript in the affected dogs lacked 103 nucleotides encoded by exon\u00a02. We speculate that this exon skipping is caused by a genetic variant located in one of the large introns flanking this exon, which was missed by whole genome sequencing with the illumina short read technology. The altered EDA transcript splicing most likely causes the observed ectodermal dysplasia in the affected dogs. These dogs thus offer an excellent opportunity to gain insights into the complex splicing processes required for expression of the EDA gene, and other genes with large introns.<\/jats:p>","DOI":"10.1534\/g3.116.033225","type":"journal-article","created":{"date-parts":[[2016,8,1]],"date-time":"2016-08-01T22:39:08Z","timestamp":1470091148000},"page":"2949-2954","source":"Crossref","is-referenced-by-count":21,"title":["A Splice Defect in the <i>EDA<\/i> Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype"],"prefix":"10.1093","volume":"6","author":[{"given":"Dominik P","family":"Waluk","sequence":"first","affiliation":[{"name":"Department of Clinical Research, Molecular Dermatology and Stem Cell Research, University of Bern, 3001, Switzerland"},{"name":"DermFocus, University of Bern, 3001, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gila","family":"Zur","sequence":"additional","affiliation":[{"name":"Veterinary Teaching Hospital, The Koret School of Veterinary Medicine, The Hebrew University of Jerusalem, Rehovot, 7610001, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronnie","family":"Kaufmann","sequence":"additional","affiliation":[{"name":"Veterinary Teaching Hospital, The Koret School of Veterinary Medicine, The Hebrew University of Jerusalem, Rehovot, 7610001, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika M","family":"Welle","sequence":"additional","affiliation":[{"name":"DermFocus, University of Bern, 3001, Switzerland"},{"name":"Institute of Animal Pathology, Vetsuisse Faculty, University of Bern, 3001, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vidhya","family":"Jagannathan","sequence":"additional","affiliation":[{"name":"DermFocus, University of Bern, 3001, Switzerland"},{"name":"Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cord","family":"Dr\u00f6gem\u00fcller","sequence":"additional","affiliation":[{"name":"DermFocus, University of Bern, 3001, Switzerland"},{"name":"Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliane J","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Clinical Research, Molecular Dermatology and Stem Cell Research, University of Bern, 3001, Switzerland"},{"name":"DermFocus, University of Bern, 3001, Switzerland"},{"name":"Institute of Animal Pathology, Vetsuisse Faculty, University of Bern, 3001, Switzerland"},{"name":"Clinic for Dermatology, Inselspital, Bern University Hospital, University of Bern, 3001, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tosso","family":"Leeb","sequence":"additional","affiliation":[{"name":"Department of Clinical Research, Molecular Dermatology and Stem Cell Research, University of Bern, 3001, Switzerland"},{"name":"DermFocus, University of Bern, 3001, Switzerland"},{"name":"Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Galichet","sequence":"additional","affiliation":[{"name":"Department of Clinical Research, Molecular Dermatology and Stem Cell Research, University of Bern, 3001, Switzerland"},{"name":"DermFocus, University of Bern, 3001, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2016,9,1]]},"reference":[{"key":"2021042015100663000_bib1","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1093\/bioinformatics\/btu638","article-title":"HTSeq\u2014a Python framework to work with high-throughput sequencing data.","volume":"31","author":"Anders","year":"2015","journal-title":"Bioinformatics"},{"key":"2021042015100663000_bib2","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1093\/oxfordjournals.jhered.a023146","article-title":"X-linked ectodermal dysplasia in the dog.","volume":"88","author":"Casal","year":"1997","journal-title":"J. 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