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

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

^*J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646; ^‡Institute of Biotechnology and ^§Department of Medical Genetics, Haartman Institute, 00014 University of Helsinki, Helsinki, Finland; ^¶Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI 48202; and ^‖Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, MO 63110

Communicated by Albert de la Chapelle, University of Helsinki, Helsinki, Finland (received for review August 13, 1997)

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.

Footnotes

↵ † To whom reprint requests should be addressed at: J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646. e-mail: anand{at}ggc.org.
Data deposition: The sequences reported in this paper have been deposited in the GenBank database (accession nos. AF016627–AF016632 and Y13438).
ABBREVIATIONS:

d.p.c.,

days post coitum;

EGF,

epidermal growth factor