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

Anand K. Srivastava, Johanna Pispa, Andrew J. Hartung, Yangzhu Du, Sini Ezer, Ted Jenks, Tokihiko Shimada, Maija Pekkanen, Marja L. Mikkola, Minoru Ko, Irma Thesleff, Juha Kere, David Schlessinger

Research output: Contribution to journalArticle

228 Citations (Scopus)

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 T(a) 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.

Original languageEnglish
Pages (from-to)13069-13074
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Volume94
Issue number24
DOIs
Publication statusPublished - 1997 Nov 25
Externally publishedYes

Fingerprint

Ectodysplasins
Exons
Phenotype
Mutation
Genes
Proteins
Tooth
Chromosomes, Human, X
Eccrine Glands
Sweat Glands
Point Mutation
Epidermis
Hair
Embryonic Development
Protein Isoforms
Complementary DNA
Alleles

ASJC Scopus subject areas

  • Genetics
  • General

Cite this

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. / Srivastava, Anand K.; Pispa, Johanna; Hartung, Andrew J.; Du, Yangzhu; Ezer, Sini; Jenks, Ted; Shimada, Tokihiko; Pekkanen, Maija; Mikkola, Marja L.; Ko, Minoru; Thesleff, Irma; Kere, Juha; Schlessinger, David.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 94, No. 24, 25.11.1997, p. 13069-13074.

Research output: Contribution to journalArticle

Srivastava, Anand K. ; Pispa, Johanna ; Hartung, Andrew J. ; Du, Yangzhu ; Ezer, Sini ; Jenks, Ted ; Shimada, Tokihiko ; Pekkanen, Maija ; Mikkola, Marja L. ; Ko, Minoru ; Thesleff, Irma ; Kere, Juha ; Schlessinger, David. / 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. In: Proceedings of the National Academy of Sciences of the United States of America. 1997 ; Vol. 94, No. 24. pp. 13069-13074.
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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 T(a) 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.",
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AU - Mikkola, Marja L.

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