Abstract
Ectodermal dysplasias comprise over 150 syndromes of unknown pathogenesis. X-linked anhidrotic ectodermal dysplasia (EDA) is characterized by abnormal hair, teeth and sweat glands. We now describe the positional cloning of the gene mutated in EDA. Two exons, separated by a 200-kilobase intron, encode a predicted 135-residue transmembrane protein. The gene is disrupted in six patients with X;autosome translocations or submicroscopic deletions; nine patients had point mutations. The gene is expressed in keratinocytes, hair follicles, and sweat glands, and in other adult and fetal tissues. The predicted EDA protein may belong to a novel class with a role in epithelial-mesenchymal signalling.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adult
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Alleles
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Alopecia / genetics
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Amino Acid Sequence
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Base Sequence
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Chromosomes, Artificial, Yeast
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CpG Islands
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DNA Primers / chemistry
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DNA, Complementary / genetics
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Ectodermal Dysplasia / genetics*
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Ectodysplasins
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Gene Expression
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Genetic Linkage
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Hair / abnormalities
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Hair / physiology
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Humans
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Hypohidrosis / genetics*
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In Situ Hybridization
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Male
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Membrane Proteins / genetics*
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Molecular Sequence Data
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Promoter Regions, Genetic
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RNA, Messenger / genetics
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Skin Physiological Phenomena
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Tooth Abnormalities / genetics*
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Translocation, Genetic
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X Chromosome / genetics*
Substances
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DNA Primers
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DNA, Complementary
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EDA protein, human
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Ectodysplasins
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Membrane Proteins
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RNA, Messenger
Associated data
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GENBANK/U59227
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GENBANK/U59228