Anti-Mullerian hormone receptor defect

被引：33

作者：

di Clemente, Nathalie ^{[1
]}

Belville, Corinne ^{[1
]}

机构：

[1] Univ Paris 11, INSERM, U782, F-92140 Clamart, France

来源：

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM | 2006年 / 20卷 / 04期

关键词：

anti-Mullerian hormone; Mullerian inhibiting substance; persistent Mullerian duct syndrome; mutations; receptors;

D O I：

10.1016/j.beem.2006.09.004

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Anti-Mollerian hormone (AMH), produced by gonadal somatic cells, is mainly responsible for the regression of Mullerian ducts-the anlagen of uterus and Fallopian tubes-during male sex differentiation. Like other members of the transforming growth factor beta (TGF-beta) family, AMH signals through two serine/threonine kinase receptors, of which type II is specific, and type I is shared with the bone morphogenetic protein family. Persistent Mullerian duct syndrome is a rare form of male pseudohermaphroditism characterized by the persistence of Mullerian derivatives in otherwise normally virilized males. It is transmitted according to a recessive autosomic pattern and is due, in 84% of cases, to mutations of AMH and AMH receptor type II genes. Serum AMH is normal for age in patients with AMH type II mutations and low or undetectable in those with AMH mutations. In 14% of cases the origin of the condition is unknown.

引用

页码：599 / 610

页数：12

共 41 条

[1]

Allard S, 2000, DEVELOPMENT, V127, P3349

[2]

BAARENDS WM, 1994, DEVELOPMENT, V120, P189

[3] Mullerian Inhibiting Substance inhibits cervical cancer cell growth via a pathway involving p130 and p107 [J].

Barbie, TU ;

Barbie, DA ;

MacLaughlin, DT ;

Maheswaran, S ;

Donahoe, PK .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (26) :15601-15606

[4] Regulation of gonadotropin gene expression by Mullerian inhibiting substance [J].

Bédécarrats, GY ;

O'Neill, FH ;

Norwitz, ER ;

Kaiser, UB ;

Teixeira, J .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (16) :9348-9353

[5]

BEHRINGER RR, 1994, ARES SERONO S PUBLIC, P1

[6] Role of type I receptors for anti-Mullerian hormone in the SMAT-1 Sertoli cell line [J].

Belville, C ;

Jamin, SP ;

Picard, JY ;

Josso, N ;

di Clemente, N .

ONCOGENE, 2005, 24 (31) :4984-4992

[7] Mutations of the anti-Mullerian hormone gene in patients with persistent Mullerian duct syndrome: Biosynthesis, secretion, and processing of the abnormal proteins and analysis using a three-dimensional model [J].

Belville, C ;

Van Vlijmen, H ;

Ehrenfels, C ;

Pepinsky, B ;

Rezaie, AR ;

Picard, JY ;

Josso, N ;

di Clemente, N ;

Cate, RL .

MOLECULAR ENDOCRINOLOGY, 2004, 18 (03) :708-721

[8] ISOLATION OF THE BOVINE AND HUMAN GENES FOR MULLERIAN INHIBITING SUBSTANCE AND EXPRESSION OF THE HUMAN-GENE IN ANIMAL-CELLS [J].

CATE, RL ;

MATTALIANO, RJ ;

HESSION, C ;

TIZARD, R ;

FARBER, NM ;

CHEUNG, A ;

NINFA, EG ;

FREY, AZ ;

GASH, DJ ;

CHOW, EP ;

FISHER, RA ;

BERTONIS, JM ;

TORRES, G ;

WALLNER, BP ;

RAMACHANDRAN, KL ;

RAGIN, RC ;

MANGANARO, TF ;

MACLAUGHLIN, DT ;

DONAHOE, PK .

CELL, 1986, 45 (05) :685-698

[9] Mullerian inhibiting substance signaling uses a bone morphogenetic protein (BMP)-like pathway mediated by ALK2 and induces Smad6 expression [J].

Clarke, TR ;

Hoshiya, Y ;

Yi, SE ;

Liu, XH ;

Lyons, KM ;

Donahoe, PK .

MOLECULAR ENDOCRINOLOGY, 2001, 15 (06) :946-959

[10]

de Santa Barbara P, 1998, J BIOL CHEM, V273, P29654

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