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 S.H. Ko, Irma Thesleff, Juha Kere, David Schlessinger

研究成果: Article

231 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)13069-13074
ページ数6
ジャーナルProceedings of the National Academy of Sciences of the United States of America
94
24
DOI
出版ステータスPublished - 1997 11 25

ASJC Scopus subject areas

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