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.
Proc Natl Acad Sci U S A
; 94(24): 13069-74, 1997 Nov 25.
Article
em En
| MEDLINE
| ID: mdl-9371801
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.
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Base de dados:
MEDLINE
Assunto principal:
Neuropeptídeos
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Éxons
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Proteínas de Homeodomínio
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Proteínas de Membrana
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Mutação
Limite:
Animals
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Humans
Idioma:
En
Ano de publicação:
1997
Tipo de documento:
Article