AMH and AMH receptor defects in persistent Müllerian duct syndrome
Tóm tắt
Từ khóa
Tài liệu tham khảo
Arango NA, Lovell-Badge R and Behringer RR (1999) Targeted mutagenesis of the endogenous mouse Mis gene promoter: In vivo definition of genetic pathways of vertebrate sexual development. Cell99, 409–419.
Baarends WM, van Helmond MJL, Post M, van der Schoot PCJM, Hoogerbrugge JW, De Winter JP, Uilenbroek JTJ, Karels B, Wilming LG, Meijers JHC, Themmen APN and Grootegoed JA (1994) 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. Development120, 189–197.
Belville C, Van Vlijmen H, Ehrenfels C, Pepinsky RB, Rezaie AR, Picard J, Josso N, di Clemente N and Cate RL (2004) 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. Mol Endocrinol18, 708–721.
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 and Donahoe PK (1986) Isolation of the bovine and human genes for Müllerian inhibiting substance and expression of the human gene in animal cells. Cell45, 685–698.
Clarke TR, Hoshiya Y, Yi SE, Liu XH, Lyons KM and Donahoe PK (2001) Müllerian inhibiting substance signaling uses a bone morphogenetic protein (BMP)-like pathway mediated by ALK2 and induces Smad6 expression. Mol Endocrinol15, 946–959.
Cohen-Haguenauer O, Picard JY, Mattei MG, Serero S, Nguyen VC, de Tand MF, Guerrier D, Hors-Cayla MC, Josso N and Frézal J (1987) Mapping of the gene for anti-Müllerian hormone to the short arm of human chromosome 19. Cytogenet Cell Genet44, 2–6.
de Vet A, Laven JSE, de Jong FH, Themmen APN and Fauser BCJM (2002) Anti-Müllerian hormone serum levels: a putative marker for ovarian aging. Fertil Steril77, 357–362.
di Clemente N, Goxe B, Remy JJ, Cate RL, Josso N, Vigier B and Salesse R (1994) Inhibitory effect of AMH upon the expression of aromatase and LH receptors by cultured granulosa cells of rat and porcine immature ovaries. Endocrine2, 553–558.
di Clemente N, Wilson CA, Faure E, Boussin L, Carmillo P, Tizard R, Picard JY, Vigier B, Josso N and Cate RL (1994) Cloning, expression and alternative splicing of the receptor for anti- Müllerian hormone. Mol Endocrinol8, 1006–1020.
Dresser DW, Hacker A, Lovell-Badge R and Guerrier D (1995) The genes for a spliceosome protein (SAP62) and the anti-Müllerian hormone (AMH) are contiguous. Hum Mol Genet4, 1613–1618.
Durlinger AL, Kramer P, Karels B, de Jong FH, Uilenbroek JT, Grootegoed JA and Themmen AP (1999) Control of primordial follicle recruitment by anti-Müllerian hormone in the mouse ovary. Endocrinology140, 5789–5796.
Farag TI (1993) Familial persistent Müllerian duct syndrome in Kuwait and neighboring populations. Am J Med Genet47, 432–434.
Faure E, Gouédard L, Imbeaud S, Cate RL, Picard JY, Josso N and di Clemente N (1996) Mutant isoforms of the anti-Müllerian hormone type II receptor are not expressed at the cell membrane. J Biol Chem271, 30571–30575.
Giuili G, Shen WH and Ingraham HA (1997) The nuclear receptor SF-1 mediates sexually dimorphic expression of Mullerian Inhibiting Substance, in vivo. Development124, 1799–1807.
Gouédard L, Chen YG, Thevenet L, Racine C, Borie S, Lamarre I, Josso N, Massagué J and di Clemente N (2000) Engagement of bone morphogenetic protein type IB receptor and Smad1 signaling by anti-Müllerian hormone and its type II receptor. J Biol Chem275, 27973–27978.
Gruijters MJG, Visser JA, Durlinger ALL and Themmen APN (2003) Anti-Müllerian hormone and its role in ovarian function. Mol Cell Endocrinol211, 85–90.
Guerrier D, Tran D, van der Winden JM, Hideux S, Van Outryve L, Legeai L, Bouchard M, van Vliet G, de Laet MH, Picard JY, Kahn A and Josso N (1989) The persistent Müllerian duct syndrome: a molecular approach. J Clin Endocrinol Metab68, 46–52.
Hoshiya M, Christian BP, Cromie WJ, Kim H, Zhan Y, MacLaughlin DT and Donahoe PK (2003) 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 Res pt. A Clin Mol Teratol67, 868–874.
Hoshiya Y, Gupta V, Segev DL, Hoshiya M, Carey JL, Sasur LM, Tran TT, Ha TU and Maheswaran S (2003) Mullerian inhibiting substance induces NF kappa B signaling in breast and prostate cancer cells. Mol Cell Endocrinol211, 43–49.
Hutson JM, Davidson PM, Reece L, Baker ML and Zhou B (1994) Failure of gubernacular development in the persistent Müllerian duct syndrome allows herniation of the testes. Pediatr Surg Int9, 544–546.
Imbeaud S, Rey R, Berta P, Chaussain JL, Wit JM, Lustig RH, De Vroede MAM, Picard JY and Josso N (1995) Progressive testicular degeneration in the persistent Müllerian duct syndrome. Eur J Pediatr154, 187–190.
Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, Josso N and Picard JY (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 Genet5, 1269–1279.
Jamin SP, Arango NA, Mishina Y, Hanks MC and Behringer RR (2002) Requirement of Bmpr1a for Müllerian duct regression during male sexual development. Nat Genet32, 408–410.
Josso N and di Clemente N (2003) Transduction pathway of anti-Müllerian hormone, a sex-specific member of the TGF-β family. Trends Endocrinol Metab14, 91–97.
Josso N, Belville C and Picard JY (2003) Mutations of AMH and its receptors. Endocrinologist13, 247–251.
Josso N, Belville C and Picard JY (2003) Persistence of Müllerian derivatives in males. In Fauser BCJM (ed) Molecular Biology in Reproductive Medicine. pp 575–586.
Messika-Zeitoun L, Gouédard L, Belville C, Dutertre M, Lins L, Imbeaud S, Hughes IA, Picard JY, Josso N and di Clemente N (2001) 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. J Clin Endocrinol Metab86, 4390–4397.
Mishina Y, Rey R, Finegold MJ, Matzuk MM, Josso N, Cate RL and Behringer RR (1996) Genetic analysis of the Müllerian-inhibiting substance signal transduction pathway. Genes Dev10, 2577–2587.
Mishina Y, Whitworth DJ, Racine C and Behringer RR (1999) High specificity of Müllerian-inhibiting substance signaling in vivo. Endocrinology140, 2084–2088.
Nohe A, Keating E, Knaus P and Petersen NO (2004) Signal transduction of bone morphogenetic protein receptors. Cell Signal16, 291–299.
Oppelt P, Strissel P, Kellermann A, Humeny A, Beckmann M and Strick R (2004) DNA sequence variations of the entire anti-Müllerian hormone (AMH) gene promoter and AMH protein expression in patients with the Mayer-Rokitanski-Küster-Hauser syndrome. Hum Reprod20, 149–157.
Renaud EJ, MacLaughlin DT, Oliva E, Rueda BR and Donahoe PK (2005) Endometrial cancer is a receptor-mediated target for Mullerian Inhibiting Substance. Proc Natl Acad Sci USA102, 111–116.
Richter-Unruh A, Verhoef-Post M, Malak S, Homoki J, Hauffa BP and Themmen APN (2004) Leydig cell hypoplasia: Absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain. J Clin Endocrinol Metab89, 5161–5167.
Shi YG and Massagué J (2003) Mechanisms of TGF-β signaling from cell membrane to the nucleus. Cell113, 685–700.
Shimasaki S, Moore RK, Otsuka F and Erickson GF (2004) The bone morphogenetic protein system in mammalian reproduction. Endocr Rev25, 72–101.
vanRooij IAJ, Broekmans FJM, teVelde ER, Fauser BCJM, Bancsi LFJM, de Jong FH and Themmen APN (2002) Serum anti-Müllerian hormone levels: a novel measure of ovarian reserve. Hum Reprod17, 3065–3071.
Visser JA, Olaso R, Verhoef-Post M, Kramer P, Themmen APN and Ingraham HA (2001) The serine/threonine transmembrane receptor ALK2 mediates Müllerian inhibiting substance signaling. Mol Endocrinol15, 936–945.
Weenen C, Laven JSE, vonBergh ARM, Cranfield M, Groome NP, Visser JA, Kramer P, Fauser BCJM and Themmen APN (2004) Anti-Mullerian hormone expression pattern in the human ovary: potential implications for initial and cyclic follicle recruitment. Mol Hum Reprod10, 77–83.