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

AUTOR(ES)

Srivastava, Anand K.

FONTE

The National Academy of Sciences of the USA

RESUMO

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.

Documentos Relacionados

• A gene that encodes a protein consisting solely of zinc finger domains is preferentially expressed in transformed mouse cells.
• Targeted Deletion of the tub Mouse Obesity Gene Reveals that tubby Is a Loss-of-Function Mutation
• Structure of the chicken link protein gene: exons correlate with the protein domains.
• The mouse pale ear (ep) mutation is the homologue of human Hermansky–Pudlak syndrome
• A novel growth-inducible gene that encodes a protein with a conserved cold-shock domain.