Best Practice & Research Clinical Endocrinology & Metabolism
Volume 20, Issue 4 , Pages 599-610 , December 2006

Anti-Müllerian hormone receptor defect

  • Nathalie di Clemente, PhD (Group Leader)

      Affiliations

    • Corresponding Author InformationCorresponding author. Tel.: +33 1 41 28 80 29; Fax: +33 1 41 28 80 28.

References 

  1. Josso N, Rey R, Gonzalès J. Sexual Differentiation. In:  New M editors. Pediatric Endocrinology. 2003;p. 1–30www.Endotext.com
  2. Jost A. Recherches sur la différenciation sexuelle de l'embryon de lapin. III. Rôle des gonades foetales dans la différenciation sexuelle somatique. Archives d'anatomie Microscopique et de Morphologie Expérimentale. 1947;36:271–315
  3. Jost A. Problems of fetal endocrinology: the gonadal and hypophyseal hormones. Recent Progress in Hormone Research. 1953;8:379–418
  4. Cate RL, Mattaliano RJ, Hession C, et al. Isolation of the bovine and human genes for Müllerian inhibiting substance and expression of the human gene in animal cells. Cell. 1986;45:685–698
  5. Josso N, Cate RL, Picard JY, et al. Anti-Müllerian hormone, the Jost factor. In:  Bardin CW editors. Recent Progress in Hormone Research. San Diego: Academic Press; 1993;p. 1–59
  6. Rey R, Lukas-Croisier C, Lasala C, et al. AMH/MIS: what we know already about the gene, the protein and its regulation. Molecular and Cellular Endocrinology. 2003;211:21–31
  7. Teixeira J, Maheswaran S, Donahoe PK. Müllerian inhibiting substance: An instructive developmental hormone with diagnostic and possible therapeutic applications. Endocrine Reviews. 2001;22:657–674
  8. Wang PY, Koishi K, McGeachie AB, et al. Mullerian Inhibiting Substance acts as a motor neuron survival factor in vitro. Proceedings of the National Academy of Sciences of the USA. 2005;102:16421–16425
  9. Vigier B, Tran D, Legeai L, et al. Origin of anti-Müllerian hormone in bovine freemartin fetuses. Journal of Reproduction and Fertility. 1984;70:473–479
  10. Josso N, Belville C, di Clemente N, et al. AMH and AMH receptor defects in persistent Müllerian duct syndrome. Human Reproduction Update. 2005;11:351–356
  11. Behringer RR, Cate RL. Müllerian inhibiting substance function during mammalian reproductive development. In:  Dufau ML editors. Cell and molecular biology of the testis. Rome: Ares-Serono Symposia Publications; 1994;p. 1–6
  12. Mishina Y, Rey R, Finegold MJ, et al. Genetic analysis of the Müllerian-inhibiting substance signal transduction pathway. Genes and Development. 1996;10:2577–2587
  13. Shi YG, Massagué J. Mechanisms of TGF-beta signaling from cell membrane to the nucleus. Cell. 2003;113:685–700
  14. Baarends WM, van Helmond MJL, Post M, et al. A novel member of the transmembrane serine/threonine kinase receptor family is specifically expressed in the gonads and in mesenchymal cells adjacent to the Müllerian duct. Development. 1994;120:189–197
  15. di Clemente N, Wilson CA, Faure E, et al. Cloning, expression and alternative splicing of the receptor for anti- Müllerian hormone. Molecular Endocrinology. 1994;8:1006–1020
  16. Imbeaud S, Faure E, Lamarre I, et al. Insensitivity to anti-Müllerian hormone due to a spontaneous mutation in the human anti-Müllerian hormone receptor. Nature Genetics. 1995;11:382–388
  17. Faure E, Gouédard L, Imbeaud S, et al. Mutant isoforms of the anti-Müllerian hormone type II receptor are not expressed at the cell membrane. The Journal of Biological Chemistry. 1996;271:30571–30575
  18. Zhan Y, Fujino A, MacLaughlin DT, et al. Mullerian inhibiting substance regulates its receptor/SMAD signaling and causes mesenchymal transition of the coelomic epithelial cells early in Mullerian duct regression. Development. 2006;133:2359–2369
  19. Allard S, Adin P, Gouédard L, et al. Molecular mechanisms of hormone-mediated Müllerian duct regression: involvement of beta-catenin. Development. 2000;127:3349–3360
  20. Barbie TU, Barbie DA, MacLaughlin DT, et al. Mullerian Inhibiting Substance inhibits cervical cancer cell growth via a pathway involving p130 and p107. Proceedings of the National Academy of Sciences of the USA. 2003;100:15601–15606
  21. Renaud EJ, MacLaughlin DT, Oliva E, et al. Endometrial cancer is a receptor-mediated target for Mullerian Inhibiting Substance. Proceedings of the National Academy of Sciences of the USA. 2005;102:111–116
  22. Racine C, Rey R, Forest MG, et al. Receptors for anti-mullerian hormone on Leydig cells are responsible for its effects on steroidogenesis and cell differentiation. Proceedings of the National Academy of Sciences of the USA. 1998;95:594–599
  23. Ingraham HA, Hirokawa Y, Roberts LM, et al. Autocrine and paracrine Müllerian inhibiting substance hormone signaling hormone in reproduction. Recent Progress in Hormone Research. 2000;55:53–68
  24. Segev DL, Hoshiya Y, Hoshiya M, et al. Müllerian-inhibiting substance regulates NF-kappa B signaling in the prostate in vitro and in vivo. Proceedings of the National Academy of Sciences of the USA. 2002;99:239–244
  25. Segev DL, Ha TU, Tran TT, et al. Müllerian inhibiting substance inhibits breast cancer cell growth through an NF kappa B-mediated pathway. The Journal of Biological Chemistry. 2000;275:28371–28379
  26. Bédécarrats GY, O'Neill FH, Norwitz ER, et al. Regulation of gonadotropin gene expression by Mullerian inhibiting substance. Proceedings of the National Academy of Sciences of the USA. 2003;100:9348–9353
  27. Santa Barbara Pd, Moniot B, Poulat F, Boizet B, et al. Steroidogenic factor-1 regulates the transcription of the human anti- Müllerian hormone receptor. The Journal of Biological Chemistry. 1998;273:29654–29660
  28. Teixeira J, Kehas DJ, Antun R, et al. Transcriptional regulation of the rat Müllerian inhibiting substance type II receptor in rodent Leydig cells. Proceedings of the National Academy of Sciences of the USA. 1999;96:13831–13838
  29. Parr BA, McMahon AP. Sexually dimorphic development of the mammalian reproductive tract requires Wnt-7a. Nature. 1998;395:707–710
  30. Hossain A, Saunders GF. Synergistic cooperation between the á-catenin signaling pathway and steroidogenic factor-1 in the activation of the Müllerian inhibiting substance type II. The Journal of Biological Chemistry. 2003;278:26511–26516
  31. Gouédard L, Chen YG, Thevenet L, et al. Engagement of bone morphogenetic protein type IB receptor and Smad1 signaling by anti-Müllerian hormone and its type II receptor. The Journal of Biological Chemistry. 2000;275:27973–27978
  32. Clarke TR, Hoshiya Y, Yi SE, et al. Müllerian inhibiting substance signaling uses a bone morphogenetic protein (BMP)-like pathway mediated by ALK2 and induces Smad6 expression. Molecular Endocrinology. 2001;15:946–959
  33. Belville C, Picard JY, Josso N, et al. Role of type I receptors for anti-Müllerian hormone in the SMAT-1 Sertoli cell line. Oncogene. 2005;24:4984–4992
  34. Jamin SP, Arango NA, Mishina Y, et al. Requirement of Bmpr1a for Müllerian duct regression during male sexual development. Nature Genetics. 2002;32:408–410
  35. Dutertre M, Gouédard L, Xavier F, et al. Ovarian granulosa cell tumors express a functional receptor for anti- Müllerian hormone in transgenic mice. Endocrinology. 2001;142:4040–4046
  36. Roberts LM, Visser JA, Ingraham HA. Involvement of a matrix metalloproteinase in MIS-induced cell death during urogenital development. Development. 2002;129:1487–1496
  37. Belville C, Van Vlijmen H, Ehrenfels C, et al. Mutations of the anti-Müllerian hormone gene in patients with persistent Müllerian duct syndrome: biosynthesis, secretion and processing of the abnormal proteins and analysis using a three-dimensional model. Molecular Endocrinology. 2004;18:708–721
  38. Imbeaud S, Belville C, Messika-Zeitoun L, et al. A 27 base-pair deletion of the anti-Müllerian type II receptor gene is the most common cause of the persistent Müllerian duct syndrome. Human Molecular Genetics. 1996;5:1269–1279
  39. Messika-Zeitoun L, Gouédard L, Belville C, et al. Autosomal recessive segregation of a truncating mutation of anti-Müllerian hormone type II receptor in a family affected by the persistent Müllerian duct syndrome contrasts with its dominant negative activity in vitro. The Journal of Clinical Endocrinology and Metabolism. 2001;86:4390–4397
  40. Hoshiya M, Christian BP, Cromie WJ, et al. Persistent Müllerian duct syndrome caused by both a 27-bp deletion and a novel splice mutation in the MIS type II receptor gene. Birth Defects Research. Part A. 2003;67:868–874
  41. Durlinger ALL, Kramer P, Karels B, et al. Control of primordial follicle recruitment by anti-Müllerian hormone in the mouse ovary. Endocrinology. 1999;140:5789–5796

PII: S1521-690X(06)00075-3

doi: 10.1016/j.beem.2006.09.004

Best Practice & Research Clinical Endocrinology & Metabolism
Volume 20, Issue 4 , Pages 599-610 , December 2006