title: The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains.
abstract: Mouse Tabby (Ta) and X chromosome-linked human EDA share the features of hypoplastic hair, teeth, and eccrine sweat glands. We have cloned the Ta gene and find it to be homologous to the EDA gene. The gene is altered in two Ta alleles with a point mutation or a deletion. The gene is expressed in developing teeth and epidermis; no expression is seen in corresponding tissues from Ta mice. Ta and EDA genes both encode alternatively spliced forms; novel exons now extend the 3' end of the EDA gene. All transcripts recovered have the same 5' exon. The longest Ta cDNA encodes a 391-residue transmembrane protein, ectodysplasin-A, containing 19 Gly-Xaa-Yaa repeats. The isoforms of ectodysplasin-A may correlate with differential roles during embryonic development.
authors.affiliation: J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, SC 29646, USA. anand@ggc.org
authors.forename: A K
authors.initials: AK
authors.lastname: Srivastava
authors.forename: J
authors.initials: J
authors.lastname: Pispa
authors.forename: A J
authors.initials: AJ
authors.lastname: Hartung
authors.forename: Y
authors.initials: Y
authors.lastname: Du
authors.forename: S
authors.initials: S
authors.lastname: Ezer
authors.forename: T
authors.initials: T
authors.lastname: Jenks
authors.forename: T
authors.initials: T
authors.lastname: Shimada
authors.forename: M
authors.initials: M
authors.lastname: Pekkanen
authors.forename: M L
authors.initials: ML
authors.lastname: Mikkola
authors.forename: M S
authors.initials: MS
authors.lastname: Ko
authors.forename: I
authors.initials: I
authors.lastname: Thesleff
authors.forename: J
authors.initials: J
authors.lastname: Kere
authors.forename: D
authors.initials: D
authors.lastname: Schlessinger
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D018076:DNA, Complementary; D053331:Ectodysplasins; D005091:Exons; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D009479:Neuropeptides / Q000235:genetics*; D010641:Phenotype; D011401:Promoter Regions, Genetic; D017386:Sequence Homology, Amino Acid
chemical_list: D018076:DNA, Complementary; C506018:EDA protein, human; D053331:Ectodysplasins; C506019:Eda protein, mouse; D018398:Homeodomain Proteins; D008565:Membrane Proteins; D009479:Neuropeptides; C109467:Ptx3 homeodomain protein, mouse