Genetics of anti-Müllerian hormone and its signaling pathway

Cate, 1986, Isolation of the bovine and human genes for Müllerian inhibiting substance and expression of the human gene in animal cells, Cell, 45, 685, 10.1016/0092-8674(86)90783-X Josso, 1973, In vitro synthesis of Müllerian-inhibiting hormone by seminiferous tubules isolated from the calf fetal testis, Endocrinology, 93, 829, 10.1210/endo-93-4-829 Picard, 2017, The persistent müllerian duct syndrome: an update based upon a personal experience of 157 cases, Sex Dev, 11, 109, 10.1159/000475516 Behringer, 1994, Müllerian-inhibiting substance function during mammalian sexual development, Cell, 79, 415, 10.1016/0092-8674(94)90251-8 Pfennig, 2015, The role of Amh signaling in teleost fish - multiple functions not restricted to the gonads, Gen Comp Endocrinol, 223, 87, 10.1016/j.ygcen.2015.09.025 Hattori, 2012, A Y-linked anti-Mullerian hormone duplication takes over a critical role in sex determination, Proc Natl Acad Sci (USA), 109, 2955, 10.1073/pnas.1018392109 Nakamoto, 2021, A Y-linked anti-Müllerian hormone type-II receptor is the sex-determining gene in ayu, Plecoglossus altivelis, PLoS Genet, 17, 10.1371/journal.pgen.1009705 Cohen-Haguenauer, 1987, Mapping of the gene for anti-Müllerian hormone to the short arm of human chromosome 19, Cytogenet Cell Genet, 44, 2, 10.1159/000132332 Picard, 1986, Cloning and expression of cDNA for anti-Müllerian hormone, Proc Natl Acad Sci (USA), 83, 5464, 10.1073/pnas.83.15.5464 Guerrier, 1990, Expression of the gene for anti-Müllerian hormone, J Reprod Fertil, 88, 695, 10.1530/jrf.0.0880695 Dresser, 2001, An expressed GNRP-like gene shares a bi-directional promoter with SF3A2 (SAP62) immediately upstream of AMH, Gene, 277, 163, 10.1016/S0378-1119(01)00690-4 Schteingart, 2019, A mutation inactivating the distal SF1 binding site on the human anti-Müllerian hormone promoter causes persistent Müllerian duct syndrome, Hum Mol Genet, 28, 3211, 10.1093/hmg/ddz147 Arango, 1999, Targeted mutagenesis of the endogenous mouse Mis gene promoter: in vivo definition of genetic pathways of vertebrate sexual development, Cell, 99, 409, 10.1016/S0092-8674(00)81527-5 Bouchard, 2009, The effect of human GATA4 gene mutations on the activity of target gonadal promoters, J Mol Endocrinol, 42, 149, 10.1677/JME-08-0089 Lukas-Croisier, 2003, Follicle-stimulating hormone increases testicular Anti-Mullerian hormone (AMH) production through Sertoli cell proliferation and a nonclassical cyclic adenosine 5'-monophosphate-mediated activation of the AMH Gene, Mol Endocrinol, 17, 550, 10.1210/me.2002-0186 Lasala, 2011, SOX9 and SF1 are involved in cyclic AMP-mediated upregulation of anti-Mullerian gene expression in the testicular prepubertal Sertoli cell line SMAT1, Amer J Physiol Endocrinol Metab, 301, E539, 10.1152/ajpendo.00187.2011 Hossain, 2003, Role of Wilms tumor 1 (WT1) in the transcriptional regulation of the Mullerian-inhibiting substance promoter, Biol Reprod, 69, 1808, 10.1095/biolreprod.103.015826 Beau, 2001, In vivo analysis of the regulation of the anti-Müllerian hormone, as a marker of Sertoli cell differentiation during testicular development, reveals a multi-step process, Mol Reprod Dev, 59, 256, 10.1002/mrd.1030 Rey, 1993, Anti-Müllerian hormone and testosterone serum levels are inversely related during normal and precocious pubertal development, J Clin Endocrinol Metab, 77, 1220 Chemes, 2008, Physiologic androgen insensitivity of the fetal, neonatal and early infantile human testis is explained by the ontogeny of the androgen receptor expression in Sertoli cells, J Clin Endocrinol Metab, 93, 4408, 10.1210/jc.2008-0915 Edelsztein, 2018, Androgens downregulate anti-Mullerian hormone promoter activity in the Sertoli cell through the androgen receptor and intact steroidogenic factor 1 sites, Biol Reprod, 99, 1303, 10.1093/biolre/ioy152 di Clemente, 2021, Anti-Müllerian hormone in female reproduction, Endocr Rev, 10.1210/endrev/bnab012 Visser, 2014, Role of anti-Müllerian hormone and bone morphogenetic proteins in the regulation of FSH sensitivity, Mol Cell Endocrinol, 382, 460, 10.1016/j.mce.2013.08.012 Rajpert-de Meyts, 1999, Expression of anti-Müllerian hormone during normal and pathological gonadal development : association with differentiation of Sertoli and granulosa cells, J Clin Endocrinol Metab, 84, 3836 Garrel, 2016, Anti-Mullerian hormone: a new regulator of pituitary gonadotrope cells. Involvement in sexual dimorphism of gonadotrope activity before puberty, M-S (Med Sci) : Méd/Sci, 32, 1076 Malone, 2019, Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism, Elife, 8, 10.7554/eLife.47198 Josso, 1993, Anti-Müllerian hormone in early human development, Early Hum Dev, 33, 91, 10.1016/0378-3782(93)90204-8 Pepinsky, 1988, Proteolytic processing of Müllerian inhibiting substance produces a transforming growth factor-beta-like fragment, J Biol Chem, 263, 18961, 10.1016/S0021-9258(18)37375-7 Nachtigal, 1996, Bioactivation of Mullerian inhibiting substance during gonadal development by a kex2/subtilisin-like endoprotease, Proc Natl Acad Sci (USA), 93, 7711, 10.1073/pnas.93.15.7711 Pépin, 2013, An albumin leader sequence coupled with a cleavage site modification enhances the yield of recombinant C-terminal Mullerian Inhibiting Substance, Technology, 1, 63, 10.1142/S2339547813500076 Pierre, 2016, Most cleaved anti-Mullerian hormone binds its receptor in human follicular fluid but little is competent in serum, J Clin Endocrinol Metab, 101, 4618, 10.1210/jc.2016-1742 Hart, 2021, Structure of AMH bound to AMHR2 provides insight into a unique signaling pair in the TGF-β family, Proc Natl Acad Sci U S A, 118, 10.1073/pnas.2104809118 di Clemente, 2010, Processing of anti-mullerian hormone regulates receptor activation by a mechanism distinct from TGF-beta, Mol Endocrinol, 24, 2193, 10.1210/me.2010-0273 Gleizes, 1997, TGF-beta latency: biological significance and mechanisms of activation, Stem Cell, 15, 190, 10.1002/stem.150190 Shi, 2003, Mechanisms of TGF-beta signaling from cell membrane to the nucleus, Cell, 113, 685, 10.1016/S0092-8674(03)00432-X Hart, 2020, Mutational analysis of the putative anti-müllerian hormone (AMH) binding interface on its type II receptor, AMHR2, Endocrinology, 161, 1, 10.1210/endocr/bqaa066 Mishina, 1999, High specificity of Müllerian-inhibiting substance signaling in vivo, Endocrinology, 140, 2084, 10.1210/endo.140.5.6705 di Clemente, 1994, Cloning, expression and alternative splicing of the receptor for anti- Müllerian hormone, Mol Endocrinol, 8, 1006 Jost, 1972, Freemartins in cattle: the first steps of sexual organogenesis, J Reprod Fertil, 29, 349, 10.1530/jrf.0.0290349 Jost, 1972, Donn‚es pr‚liminaires sur les stades initiaux de la diff‚renciation du testicule chez le rat, Arch Anat Microsc Morph Exp, 61, 415 Imbeaud, 1995, Insensitivity to anti-Müllerian hormone due to a spontaneous mutation in the human anti-Müllerian hormone receptor, Nat Genet, 11, 382, 10.1038/ng1295-382 Belville, 2009, Natural mutations of the anti-Müllerian hormone type II receptor found in persistent Müllerian duct syndrome affect ligand binding, signal transduction and cellular transport, Hum Mol Genet, 18, 3002, 10.1093/hmg/ddp238 Haqq, 1993, SRY recognizes conserved DNA sites in sex-specific promoters, Proc Natl Acad Sci (USA), 90, 1097, 10.1073/pnas.90.3.1097 Teixeira, 1999, Transcriptional regulation of the rat Müllerian inhibiting substance type II receptor in rodent Leydig cells, Proc Natl Acad Sci U S A, 96, 13831, 10.1073/pnas.96.24.13831 Santa Barbara, 1998, Steroidogenic factor-1 regulates transcription of the human anti-müllerian hormone receptor, J Biol Chem, 273, 29654, 10.1074/jbc.273.45.29654 Bergeron, 2015, GATA4 knockdown in MA-10 Leydig cells identifies multiple target genes in the steroidogenic pathway, Reproduction, 149, 245, 10.1530/REP-14-0369 Klattig, 2007, Wilms' tumor protein Wt1 is an activator of the anti-Mullerian hormone receptor gene AMHR2, Mol Cell Biol, 27, 4355, 10.1128/MCB.01780-06 Garrel, 2019, GnRH transactivates human AMH receptor gene via Egr 1 and FOXO1 in gonadotrope cells, Neuroendocrinology, 108, 65, 10.1159/000494890 Hossain, 2003, Synergistic cooperation between the beta-catenin signaling pathway and steroidogenic factor 1 in the activation of the Mullerian inhibiting substance type II receptor, J Biol Chem, 278, 26511, 10.1074/jbc.M300804200 Parr, 1998, Sexually dimorphic development of the mammalian reproductive tract requires Wnt-7a, Nature, 395, 707, 10.1038/27221 Baarends, 1995, 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, Endocrinology, 136, 4951, 10.1210/endo.136.11.7588229 Baarends, 1995, Anti-Müllerian hormone and anti-Müllerian hormone type II receptor messenger ribonucleic acid expression during postnatal testis development and in the adult testis of the rat, Endocrinology, 136, 5614, 10.1210/endo.136.12.7588316 Rey, 2020, Sexual differentiation Massagué, 2000, Transcriptional control by the TGF-beta/Smad signaling system, EMBO J, 19, 1745, 10.1093/emboj/19.8.1745 Orvis, 2008, Functional redundancy of TGF-beta family type receptors and receptor-smads in mediating anti-Mullerian hormone-induced Mullerian duct regression in the mouse, Biol Reprod, 78, 994, 10.1095/biolreprod.107.066605 Wu, 2012, Mullerian inhibiting substance recruits ALK3 to regulate Leydig cell differentiation, Endocrinology, 153, 4929, 10.1210/en.2012-1168 Durlinger, 1999, Control of primordial follicle recruitment by anti-Müllerian hormone in the mouse ovary, Endocrinology, 140, 5789, 10.1210/endo.140.12.7204 Mishina, 1996, Genetic analysis of the Müllerian-inhibiting substance signal transduction pathway, Genes Dev, 10, 2577, 10.1101/gad.10.20.2577 Jamin, 2002, Requirement of Bmpr1a for Müllerian duct regression during male sexual development, Nat Genet, 32, 408, 10.1038/ng1003 Racine, 1998, Receptors for anti-mullerian hormone on Leydig cells are responsible for its effects on steroidogenesis and cell differentiation, Proc Natl Acad Sci (USA), 95, 594, 10.1073/pnas.95.2.594 Farikullah, 2012, Persistent Mullerian duct syndrome: lessons learned from managing a series of eight patients over a 10-year period and review of literature regarding malignant risk from the Mullerian remnants, BJU Int, 110, 10.1111/j.1464-410X.2012.11184.x Globa, 2021, Atypical clinical presentation of persistent müllerian duct syndrome in siblings, Sex Dev, 1 Shen, 1994, Nuclear receptor steroidogenic factor 1 regulates the mullerian inhibiting substance gene: a link to the sex determination cascade, Cell, 77, 651, 10.1016/0092-8674(94)90050-7 Imbeaud, 1996, A 27 base-pair deletion of the anti-Müllerian type II receptor gene is the most common cause of the persistent Müllerian duct syndrome, Hum Mol Genet, 5, 1269, 10.1093/hmg/5.9.1269 Tosca, 2020, Persistent Mullerian duct syndrome due to anti-Mullerian hormone receptor 2 microdeletions: a diagnostic challenge, Hum Reprod, 10.1093/humrep/deaa014 Renault, 2020, BMPR1A and BMPR1B missense mutations cause primary ovarian insufficiency, J Clin Endocrinol Metab, 105, 10.1210/clinem/dgz226