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Gene Review

AMHR2  -  anti-Mullerian hormone receptor, type II

Homo sapiens

Synonyms: AMH type II receptor, AMHR, Anti-Muellerian hormone type II receptor, Anti-Muellerian hormone type-2 receptor, MIS type II receptor, ...
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Disease relevance of AMHR2


High impact information on AMHR2

  • Amh induces regression by binding to a specific type II receptor (Amhr2) expressed in the mesenchyme surrounding the ductal epithelium [5].
  • 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 [6].
  • Deletions restricted to MRII, located just proximal to MRI, produced a milder level of retardation, whereas deletions restricted to the still-more proximal MRIII produced no discernible phenotype [7].
  • MIS type II receptor in the Mullerian duct is temporally and spatially regulated during development and becomes restricted to the most caudal ends that fuse to form the prostatic utricle [3].
  • APC, a negative regulator of Wnt signaling, decreased SF1-mediated activation of the MISRII promoter in the colon carcinoma cell line SW480 [8].

Biological context of AMHR2

  • To do these experiments, we scaled up production of rhMIS and labeled it successfully with biotin for binding studies, cloned the human MIS type II receptor for mRNA detection, and raised antibodies to an extracellular domain peptide for protein detection [2].
  • RESULTS: MOVCAR cells and tumors express MISRII by Western blot, immunohistochemical, and Northern blot analyses. rhMIS significantly inhibited MOVCAR cell growth in vitro and in vivo in three separate long-term allotransplantation experiments [9].
  • Because no mutations or rare DNA sequence polymorphisms were detected in the AMH and the AMHR genes in this group of CAUV patients, it is unlikely that either gene commonly has an etiologic role in CAUV [10].
  • We analyzed a compound heterozygote PMDS patient who had a 27-bp deletion in exon 10 in one allele and a novel mutation in intron 5 in the other allele of the MISRII gene [11].
  • Anti-müllerian hormone and anti-müllerian hormone type II receptor messenger ribonucleic acid expression in rat ovaries during postnatal development, the estrous cycle, and gonadotropin-induced follicle growth [12].

Anatomical context of AMHR2


Associations of AMHR2 with chemical compounds


Regulatory relationships of AMHR2


Other interactions of AMHR2


Analytical, diagnostic and therapeutic context of AMHR2


  1. Mullerian inhibiting substance inhibits breast cancer cell growth through an NFkappa B-mediated pathway. Segev, D.L., Ha, T.U., Tran, T.T., Kenneally, M., Harkin, P., Jung, M., MacLaughlin, D.T., Donahoe, P.K., Maheswaran, S. J. Biol. Chem. (2000) [Pubmed]
  2. Human ovarian cancer, cell lines, and primary ascites cells express the human Mullerian inhibiting substance (MIS) type II receptor, bind, and are responsive to MIS. Masiakos, P.T., MacLaughlin, D.T., Maheswaran, S., Teixeira, J., Fuller, A.F., Shah, P.C., Kehas, D.J., Kenneally, M.K., Dombkowski, D.M., Ha, T.U., Preffer, F.I., Donahoe, P.K. Clin. Cancer Res. (1999) [Pubmed]
  3. Mullerian-inhibiting substance regulates NF-kappa B signaling in the prostate in vitro and in vivo. Segev, D.L., Hoshiya, Y., Hoshiya, M., Tran, T.T., Carey, J.L., Stephen, A.E., MacLaughlin, D.T., Donahoe, P.K., Maheswaran, S. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  4. Mullerian Inhibiting Substance inhibits cervical cancer cell growth via a pathway involving p130 and p107. Barbie, T.U., Barbie, D.A., MacLaughlin, D.T., Maheswaran, S., Donahoe, P.K. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  5. Requirement of Bmpr1a for Müllerian duct regression during male sexual development. Jamin, S.P., Arango, N.A., Mishina, Y., Hanks, M.C., Behringer, R.R. Nat. Genet. (2002) [Pubmed]
  6. Insensitivity to anti-müllerian hormone due to a mutation in the human anti-müllerian hormone receptor. 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. Nat. Genet. (1995) [Pubmed]
  7. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Zhang, X., Snijders, A., Segraves, R., Zhang, X., Niebuhr, A., Albertson, D., Yang, H., Gray, J., Niebuhr, E., Bolund, L., Pinkel, D. Am. J. Hum. Genet. (2005) [Pubmed]
  8. Synergistic cooperation between the beta-catenin signaling pathway and steroidogenic factor 1 in the activation of the Mullerian inhibiting substance type II receptor. Hossain, A., Saunders, G.F. J. Biol. Chem. (2003) [Pubmed]
  9. Recombinant human Mullerian inhibiting substance inhibits long-term growth of MIS type II receptor-directed transgenic mouse ovarian cancers in vivo. Pieretti-Vanmarcke, R., Donahoe, P.K., Szotek, P., Manganaro, T., Lorenzen, M.K., Lorenzen, J., Connolly, D.C., Halpern, E.F., MacLaughlin, D.T. Clin. Cancer Res. (2006) [Pubmed]
  10. Role for anti-Müllerian hormone in congenital absence of the uterus and vagina. Resendes, B.L., Sohn, S.H., Stelling, J.R., Tineo, R., Davis, A.J., Gray, M.R., Reindollar, R.H. Am. J. Med. Genet. (2001) [Pubmed]
  11. Persistent Mullerian duct syndrome caused by both a 27-bp deletion and a novel splice mutation in the MIS type II receptor gene. Hoshiya, M., Christian, B.P., Cromie, W.J., Kim, H., Zhan, Y., MacLaughlin, D.T., Donahoe, P.K. Birth defects research. Part A, Clinical and molecular teratology. (2003) [Pubmed]
  12. Anti-müllerian hormone and anti-müllerian hormone type II receptor messenger ribonucleic acid expression in rat ovaries during postnatal development, the estrous cycle, and gonadotropin-induced follicle growth. Baarends, W.M., Uilenbroek, J.T., Kramer, P., Hoogerbrugge, J.W., van Leeuwen, E.C., Themmen, A.P., Grootegoed, J.A. Endocrinology (1995) [Pubmed]
  13. Müllerian inhibiting substance regulates its receptor/SMAD signaling and causes mesenchymal transition of the coelomic epithelial cells early in Müllerian duct regression. Zhan, Y., Fujino, A., MacLaughlin, D.T., Manganaro, T.F., Szotek, P.P., Arango, N.A., Teixeira, J., Donahoe, P.K. Development (2006) [Pubmed]
  14. Mutant isoforms of the anti-Müllerian hormone type II receptor are not expressed at the cell membrane. Faure, E., Gouédard, L., Imbeaud, S., Cate, R., Picard, J.Y., Josso, N., di Clemente, N. J. Biol. Chem. (1996) [Pubmed]
  15. Endometrial cancer is a receptor-mediated target for Mullerian Inhibiting Substance. Renaud, E.J., MacLaughlin, D.T., Oliva, E., Rueda, B.R., Donahoe, P.K. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  16. Testicular dysgenesis does not affect expression of anti-müllerian hormone by Sertoli cells in premeiotic seminiferous tubules. Rey, R., al-Attar, L., Louis, F., Jaubert, F., Barbet, P., Nihoul-Fékété, C., Chaussain, J.L., Josso, N. Am. J. Pathol. (1996) [Pubmed]
  17. Welcome to the family: the anti-müllerian hormone receptor. Grootegoed, J.A., Baarends, W.M., Themmen, A.P. Mol. Cell. Endocrinol. (1994) [Pubmed]
  18. Steroidogenic factor-1 regulates transcription of the human anti-müllerian hormone receptor. Barbara, P.S., Moniot, B., Poulat, F., Boizet, B., Berta, P. J. Biol. Chem. (1998) [Pubmed]
  19. Testicular anti-Müllerian hormone: history, genetics, regulation and clinical applications. Josso, N., Picard, J.Y., Rey, R., di Clemente, N. Pediatric endocrinology reviews : PER. (2006) [Pubmed]
  20. Persistence of Müllerian remnants in complete androgen insensitivity syndrome. Damiani, D., Mascolli, M.A., Almeida, M.J., Jaubert, F., Fellous, M., Dichtchekenian, V., Tobo, P.R., Moreira-Filho, C.A., Setian, N. Journal of pediatric endocrinology & metabolism : JPEM. (2002) [Pubmed]
  21. Engagement of bone morphogenetic protein type IB receptor and Smad1 signaling by anti-Müllerian hormone and its type II receptor. Gouédard, L., Chen, Y.G., Thevenet, L., Racine, C., Borie, S., Lamarre, I., Josso, N., Massague, J., di Clemente, N. J. Biol. Chem. (2000) [Pubmed]
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