Article
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.
Proceedings of the National Academy of Sciences of the United States of America - 25 Nov 1997
Srivastava A K, Pispa J, Hartung A J, Du Y, Ezer S, Jenks T, Shimada T, Pekkanen M, Mikkola M L, Ko M S, Thesleff I, Kere J, Schlessinger D
Abstract excerpt
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...
Topics
- Alternative Splicing
- Amino Acid Sequence
- Animals
- Base Sequence
- DNA, Complementary
- Ectodysplasins
- Exons
- Homeodomain Proteins
- Humans
- Membrane Proteins
- Mice
- Molecular Sequence Data
- Mutation