Insensitivity to anti-müllerian hormone due to a mutation in the human anti-müllerian hormone receptor.
Nat Genet
; 11(4): 382-8, 1995 Dec.
Article
en En
| MEDLINE
| ID: mdl-7493017
ABSTRACT
Anti-Müllerian hormone (AMH) and its receptor are involved in the regression of Müllerian ducts in male fetuses. We have now cloned and mapped the human AMH receptor gene and provide genetic proof that it is required for AMH signalling, by identifying a mutation in the AMH receptor in a patient with persistent Müllerian duct syndrome. The mutation destroys the invariant dinucleotide at the 5' end of the second intron, generating two abnormal mRNAs, one missing the second exon, required for ligand binding, and the other incorporating the first 12 bases of the second intron. The similar phenotypes observed in AMH-deficient and AMH receptor-deficient individuals indicate that the AMH signalling machinery is remarkably simple, consisting of one ligand and one type II receptor.
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Bases de datos:
MEDLINE
Asunto principal:
Trastornos del Desarrollo Sexual
/
Hormonas Testiculares
/
Glicoproteínas
/
Mutación Puntual
/
Receptores de Péptidos
/
Inhibidores de Crecimiento
/
Conductos Paramesonéfricos
Tipo de estudio:
Prognostic_studies
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
1995
Tipo del documento:
Article
País de afiliación:
Francia