由于人类抗苗勒管激素受体发生突变而导致对抗苗勒管激素不敏感。
Insensitivity to anti-müllerian hormone due to a mutation in the human anti-müllerian hormone receptor.
作者信息
Imbeaud S, Faure E, Lamarre I, Mattéi M G, di Clemente N, Tizard R, Carré-Eusèbe D, Belville C, Tragethon L, Tonkin C, Nelson J, McAuliffe M, Bidart J M, Lababidi A, Josso N, Cate R L, Picard J Y
机构信息
Unité de Recherches sur l'Endocrinologie du Développement INSERM, Ecole Normale Supérieure, Département de Biologie, Montrouge, France.
出版信息
Nat Genet. 1995 Dec;11(4):382-8. doi: 10.1038/ng1295-382.
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.
抗苗勒管激素（AMH）及其受体参与男性胎儿苗勒管的退化过程。我们现已克隆并定位了人类AMH受体基因，并通过鉴定一名患有持续性苗勒管综合征患者的AMH受体突变，提供了该基因对于AMH信号传导是必需的遗传学证据。该突变破坏了第二个内含子5'端的不变二核苷酸，产生了两种异常mRNA，一种缺失了配体结合所需的第二个外显子，另一种则包含了第二个内含子的前12个碱基。在AMH缺陷和AMH受体缺陷个体中观察到的相似表型表明，AMH信号传导机制非常简单，仅由一种配体和一种II型受体组成。
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