Source:http://linkedlifedata.com/resource/pubmed/id/12021844
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
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pubmed:dateCreated |
2002-5-21
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pubmed:abstractText |
The ectodysplasin 1 gene ( ED1) encodes a signaling molecule of the tumor necrosis factor family that is involved in fetal development of ectodermal appendages. Mutations in the ED1 gene are responsible for X-linked anhidrotic ectodermal dysplasia characterized by impaired development of hair, teeth, and eccrine sweat glands in human, mouse, and cattle. Two isoforms of ectodysplasin 1, termed ED1-A1 and ED1-A2, arise by alternative splicing and bind to different receptors. We identified a novel ED1 splice site mutation in a cattle family with X-linked anhidrotic ectodermal dysplasia. The point mutation is located within a 5' splice site (splice donor) at the beginning of intron 8 that is used exclusively in the alternatively spliced ED1-A1 transcript. Remarkably, cDNA sequencing demonstrated that both physiological transcripts, i.e., the ED1-A1 and the ED1-A2 splice variant, were affected by this point mutation. In an affected animal, the use of cryptic internal splice donor and acceptor sites within exon 8 lead to the production of a single transcript lacking 51 or 45 bp with respect to the normal ED1-A1 or ED1-A2 transcripts, respectively. The translated protein of the mutated transcript contained a large deletion in the functionally important C-terminal tumor necrosis factor-like domain thus causing the observed phenotype of anhidrotic ectodermal dysplasia. Our findings suggest the presence of a splice enhancer in the ED1 gene in the region of the mutation.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/DNA Primers,
http://linkedlifedata.com/resource/pubmed/chemical/EDA protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Ectodysplasins,
http://linkedlifedata.com/resource/pubmed/chemical/Eda protein, mouse,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0946-2716
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
80
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
319-23
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pubmed:dateRevised |
2011-7-8
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pubmed:meshHeading |
pubmed-meshheading:12021844-Amino Acid Sequence,
pubmed-meshheading:12021844-Animals,
pubmed-meshheading:12021844-Base Sequence,
pubmed-meshheading:12021844-Cattle,
pubmed-meshheading:12021844-Cattle Diseases,
pubmed-meshheading:12021844-DNA Primers,
pubmed-meshheading:12021844-Ectodermal Dysplasia,
pubmed-meshheading:12021844-Ectodysplasins,
pubmed-meshheading:12021844-Exons,
pubmed-meshheading:12021844-Female,
pubmed-meshheading:12021844-Male,
pubmed-meshheading:12021844-Membrane Proteins,
pubmed-meshheading:12021844-Molecular Sequence Data,
pubmed-meshheading:12021844-Pedigree,
pubmed-meshheading:12021844-Point Mutation,
pubmed-meshheading:12021844-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:12021844-Transcription, Genetic
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pubmed:year |
2002
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pubmed:articleTitle |
A single point mutation within the ED1 gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattle.
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pubmed:affiliation |
Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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