메뉴 건너뛰기




Volumn 30, Issue 1, 2009, Pages 46-56

A single base pair mutation encoding a premature stop codon in the MIS type II receptor is responsible for canine persistent Müllerian duct syndrome

Author keywords

AMH type II receptor (AMHR2); Anti M llerian hormone; Dog; M llerian duct regression

Indexed keywords

HORMONE RECEPTOR; MUELLERIAN INHIBITING FACTOR 2 RECEPTOR; UNCLASSIFIED DRUG;

EID: 58149305710     PISSN: 01963635     EISSN: None     Source Type: Journal    
DOI: 10.2164/jandrol.108.005736     Document Type: Article
Times cited : (54)

References (55)
  • 3
    • 0020286669 scopus 로고
    • Use of animal models for detecting specific alterations in reproduction
    • Amann RP. Use of animal models for detecting specific alterations in reproduction. Fund Appl Toxicol. 1986;2:13-26.
    • (1986) Fund Appl Toxicol , vol.2 , pp. 13-26
    • Amann, R.P.1
  • 5
    • 0033616218 scopus 로고    scopus 로고
    • Persistence of Müllerian derivatives in males
    • Belville C, Josso N, Picard JY. Persistence of Müllerian derivatives in males. Am J Med Genet. 1999;89:218-223.
    • (1999) Am J Med Genet , vol.89 , pp. 218-223
    • Belville, C.1    Josso, N.2    Picard, J.Y.3
  • 6
    • 1542327546 scopus 로고    scopus 로고
    • 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
    • Belville C, Van Vlijmen H, Ehrenfels C, Pepinsky B, Rezaie AR, Picard JY, Josso N, di Clemente N, Cate RL. 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 Endocrinol. 2004;18:708-721.
    • (2004) Mol Endocrinol , vol.18 , pp. 708-721
    • Belville, C.1    Van Vlijmen, H.2    Ehrenfels, C.3    Pepinsky, B.4    Rezaie, A.R.5    Picard, J.Y.6    Josso, N.7    di Clemente, N.8    Cate, R.L.9
  • 8
    • 0017191047 scopus 로고
    • Male pseudohermaphroditism, cryptorchidism and Sertoli cell neoplasia in three miniature schnauzers
    • Brown TT, Burek JD, McEntee K. Male pseudohermaphroditism, cryptorchidism and Sertoli cell neoplasia in three miniature schnauzers. J Am Vet Med Assoc. 1976;169:821-825.
    • (1976) J Am Vet Med Assoc , vol.169 , pp. 821-825
    • Brown, T.T.1    Burek, J.D.2    McEntee, K.3
  • 11
    • 0017134405 scopus 로고
    • The production of Müllerian inhibiting substance by the fetal, neonatal and adult rat
    • Donahoe PK, Ito Y, Marfatia S, Hendren WH. The production of Müllerian inhibiting substance by the fetal, neonatal and adult rat. Biol Reprod. 1976; 15:329-334.
    • (1976) Biol Reprod , vol.15 , pp. 329-334
    • Donahoe, P.K.1    Ito, Y.2    Marfatia, S.3    Hendren, W.H.4
  • 12
    • 0017704635 scopus 로고
    • A graded organ culture assay for the detection of Müllerian inhibiting substance
    • Donahoe PK, Ito Y, Marfatia S, Hendren WH. A graded organ culture assay for the detection of Müllerian inhibiting substance. J Surg Res. 1977a;23:141-148.
    • (1977) J Surg Res , vol.23 , pp. 141-148
    • Donahoe, P.K.1    Ito, Y.2    Marfatia, S.3    Hendren, W.H.4
  • 13
    • 0017711719 scopus 로고
    • Müllerian inhibiting substance in human testes after birth
    • Donahoe PK, Ito Y, Morikawa Y, Hendren WH. Müllerian inhibiting substance in human testes after birth. J Surg Res. 1977b;12:323-330.
    • (1977) J Surg Res , vol.12 , pp. 323-330
    • Donahoe, P.K.1    Ito, Y.2    Morikawa, Y.3    Hendren, W.H.4
  • 14
    • 0017367594 scopus 로고
    • Müllerian inhibiting substance in bovine fetal, newborn and prepubertal testes
    • Donahoe PK, Ito Y, Price M, Hendren WH. Müllerian inhibiting substance in bovine fetal, newborn and prepubertal testes. Biol Reprod. 1977c;16:238-243.
    • (1977) Biol Reprod , vol.16 , pp. 238-243
    • Donahoe, P.K.1    Ito, Y.2    Price, M.3    Hendren, W.H.4
  • 17
    • 0032221629 scopus 로고    scopus 로고
    • The presence of Müllerian inhibiting substance binding sites in human sperm
    • Fallat ME, Siow Y, Klar EA, Belker AM, MacLaughlin DT. The presence of Müllerian inhibiting substance binding sites in human sperm. J Urol. 1998;159:2210-2214.
    • (1998) J Urol , vol.159 , pp. 2210-2214
    • Fallat, M.E.1    Siow, Y.2    Klar, E.A.3    Belker, A.M.4    MacLaughlin, D.T.5
  • 18
    • 0034623238 scopus 로고    scopus 로고
    • Engagement of bone morphogenetic protein type IB receptor and Smad1 signaling by anti-Müllerian hormone and its type II receptor
    • Gouedard L, Chen YG, Thevenet L, Racine C, Borie S, Lamarre I, Josso N, Massague J, di Clemente N. Engagement of bone morphogenetic protein type IB receptor and Smad1 signaling by anti-Müllerian hormone and its type II receptor. J Biol Chem. 2000;275:27973-27978.
    • (2000) J Biol Chem , vol.275 , pp. 27973-27978
    • Gouedard, L.1    Chen, Y.G.2    Thevenet, L.3    Racine, C.4    Borie, S.5    Lamarre, I.6    Josso, N.7    Massague, J.8    di Clemente, N.9
  • 20
    • 0025391687 scopus 로고
    • Persistent Müllerian duct syndrome in a goat
    • Haibel GK, Rojko JL. Persistent Müllerian duct syndrome in a goat. Vet Pathol. 1990;27:135-137.
    • (1990) Vet Pathol , vol.27 , pp. 135-137
    • Haibel, G.K.1    Rojko, J.L.2
  • 22
    • 0042243575 scopus 로고    scopus 로고
    • Comment on: Cryptorchidism: incidence, risk factors, and potential role of environment; an update
    • Hutson JM. Comment on: cryptorchidism: incidence, risk factors, and potential role of environment; an update. J Androl. 2003;24:163.
    • (2003) J Androl , vol.24 , pp. 163
    • Hutson, J.M.1
  • 23
    • 0029811588 scopus 로고    scopus 로고
    • A 27 base-pair deletion of the anti-Müllerian type II receptor gene is the most common cause of the persistent Müllerian duct syndrome
    • Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, Josso N, Picard JY. 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. 1996;5:1269-1277.
    • (1996) Hum Mol Genet , vol.5 , pp. 1269-1277
    • Imbeaud, S.1    Belville, C.2    Messika-Zeitoun, L.3    Rey, R.4    di Clemente, N.5    Josso, N.6    Picard, J.Y.7
  • 26
    • 0036842115 scopus 로고    scopus 로고
    • Requirement of Bmpr1a for Müllerian duct regression during male sexual development
    • Jamin SP, Arango NA, Mishina Y, Hanks MC, Behringer RR. Requirement of Bmpr1a for Müllerian duct regression during male sexual development. Nat Genet. 2002;32:408-410.
    • (2002) Nat Genet , vol.32 , pp. 408-410
    • Jamin, S.P.1    Arango, N.A.2    Mishina, Y.3    Hanks, M.C.4    Behringer, R.R.5
  • 27
    • 21244498141 scopus 로고    scopus 로고
    • AMH and AMH receptor defects in persistent Müllerian duct syndrome
    • Josso N, Belville C, di Clemente N, Picard JY. AMH and AMH receptor defects in persistent Müllerian duct syndrome. Hum Reprod Update. 2005;11:351-356.
    • (2005) Hum Reprod Update , vol.11 , pp. 351-356
    • Josso, N.1    Belville, C.2    di Clemente, N.3    Picard, J.Y.4
  • 28
    • 0020577410 scopus 로고
    • Persistence of Müllerian ducts in male pseudohermaphroditism, and its relationship to cryptorchidism
    • Josso N, Fekete C, Cachin O, Nezelof C, Rappaport R. Persistence of Müllerian ducts in male pseudohermaphroditism, and its relationship to cryptorchidism. Clin Endocrinol (Oxf). 1983;19:247-258.
    • (1983) Clin Endocrinol (Oxf) , vol.19 , pp. 247-258
    • Josso, N.1    Fekete, C.2    Cachin, O.3    Nezelof, C.4    Rappaport, R.5
  • 29
    • 58149316815 scopus 로고
    • Fetal intersexuality induced by methylandrostenediol in the rat; with reference to a probably similar clinical observation
    • Jost A. Fetal intersexuality induced by methylandrostenediol in the rat; with reference to a probably similar clinical observation. C R Seances Soc Biol Fil. 1953;147:1930-1933.
    • (1953) C R Seances Soc Biol Fil , vol.147 , pp. 1930-1933
    • Jost, A.1
  • 30
    • 0012652957 scopus 로고
    • Gonadal hormones in the sex differentiation of the mammalian fetus
    • DeHaan RL, Ursprung H, eds, New York: Holt, Rinehart & Winston
    • Jost A. Gonadal hormones in the sex differentiation of the mammalian fetus. In: DeHaan RL, Ursprung H, eds. Organogenesis. New York: Holt, Rinehart & Winston, 1965:621-623.
    • (1965) Organogenesis , pp. 621-623
    • Jost, A.1
  • 31
    • 0022197859 scopus 로고
    • Intra-abdominal seminomas in persistent Müllerian duct syndrome
    • Kazim E. Intra-abdominal seminomas in persistent Müllerian duct syndrome. Urology. 1985;26:290-292.
    • (1985) Urology , vol.26 , pp. 290-292
    • Kazim, E.1
  • 36
    • 0019426832 scopus 로고
    • The influence of neonatal orchiopexy upon the testis in persistent Müllerian duct syndrome
    • Melman A, Leiter E, Perez JM, Driscoll D, Palmer C. The influence of neonatal orchiopexy upon the testis in persistent Müllerian duct syndrome. J Urol. 1981;125:856-858.
    • (1981) J Urol , vol.125 , pp. 856-858
    • Melman, A.1    Leiter, E.2    Perez, J.M.3    Driscoll, D.4    Palmer, C.5
  • 37
    • 17944373385 scopus 로고    scopus 로고
    • Autosomal recessive segregation of a truncating mutation of anti-Müllerian type II receptor in a family affected by the persistent Müllerian duet syndrome contrasts with its dominant negative activity in vitro
    • Messika-Zeitoun L, Gouedard L, Belville C, Dutertre M, Lins L, Imbeaud S, Hughes IA, Picard JY, Josso N, di Clemente N. Autosomal recessive segregation of a truncating mutation of anti-Müllerian type II receptor in a family affected by the persistent Müllerian duet syndrome contrasts with its dominant negative activity in vitro. J Clin Endocrinol Metab. 2001;86:4390-4397.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 4390-4397
    • Messika-Zeitoun, L.1    Gouedard, L.2    Belville, C.3    Dutertre, M.4    Lins, L.5    Imbeaud, S.6    Hughes, I.A.7    Picard, J.Y.8    Josso, N.9    di Clemente, N.10
  • 38
    • 0024854249 scopus 로고
    • Müllerian inhibiting substance is present in testes of dogs with persistent Müllerian duct syndrome
    • Meyers-Wallen VN, Donahoe PK, Ueno S, Manganaro TF, Patterson DF. Müllerian inhibiting substance is present in testes of dogs with persistent Müllerian duct syndrome. Biol Reprod. 1989;41: 881-888.
    • (1989) Biol Reprod , vol.41 , pp. 881-888
    • Meyers-Wallen, V.N.1    Donahoe, P.K.2    Ueno, S.3    Manganaro, T.F.4    Patterson, D.F.5
  • 39
    • 0027336932 scopus 로고
    • Müllerian inhibiting substance is present in embryonic testes of dogs with persistent Müllerian duct syndrome
    • Meyers-Wallen VN, Lee MM, Manganaro TF, Kuroda T, MacLaughlin D, Donahoe PK. Müllerian inhibiting substance is present in embryonic testes of dogs with persistent Müllerian duct syndrome. Biol Reprod. 1993;48:1410-1418.
    • (1993) Biol Reprod , vol.48 , pp. 1410-1418
    • Meyers-Wallen, V.N.1    Lee, M.M.2    Manganaro, T.F.3    Kuroda, T.4    MacLaughlin, D.5    Donahoe, P.K.6
  • 42
    • 0031594812 scopus 로고    scopus 로고
    • Receptors for anti-Müllerian hormone on Leydig cells are responsible for its effects on steroidogenesis and cell differentiation
    • Racine C, Rey R, Forest M, Louis F, Ferre A, Huhtaniemi I, Josso N, di Clemente N. Receptors for anti-Müllerian hormone on Leydig cells are responsible for its effects on steroidogenesis and cell differentiation. Proc Natl Acad Sci U S A. 1998;95:594-599.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 594-599
    • Racine, C.1    Rey, R.2    Forest, M.3    Louis, F.4    Ferre, A.5    Huhtaniemi, I.6    Josso, N.7    di Clemente, N.8
  • 45
    • 0024638874 scopus 로고
    • Pyometra involving uterus masculinus in a cat
    • Schulman J, Levine SH. Pyometra involving uterus masculinus in a cat. J Am Vet Med Assoc. 1989;194:690-691.
    • (1989) J Am Vet Med Assoc , vol.194 , pp. 690-691
    • Schulman, J.1    Levine, S.H.2
  • 47
    • 0017111158 scopus 로고
    • Familial persistent Müllerian duet syndrome.
    • Sloan WR, Walsh PC. Familial persistent Müllerian duet syndrome. J Urol. 1976;115:459-461.
    • (1976) J Urol , vol.115 , pp. 459-461
    • Sloan, W.R.1    Walsh, P.C.2
  • 48
    • 0022177813 scopus 로고
    • Testicular tumor in patient with persistent Müllerian duct syndrome
    • Snow BW, Rowland RG, Seal GM, Williams SD. Testicular tumor in patient with persistent Müllerian duct syndrome. Urology. 1985;26:495-497.
    • (1985) Urology , vol.26 , pp. 495-497
    • Snow, B.W.1    Rowland, R.G.2    Seal, G.M.3    Williams, S.D.4
  • 49
    • 0022559632 scopus 로고
    • Müllerian remnant causing bladder outlet obstruction.
    • Tank ES, Hatch DA. Müllerian remnant causing bladder outlet obstruction. J Pediatr Surg. 1986;21:77-80.
    • (1986) J Pediatr Surg , vol.21 , pp. 77-80
    • Tank, E.S.1    Hatch, D.A.2
  • 50
    • 0029847326 scopus 로고    scopus 로고
    • Molecular biology of MIS and its receptors
    • Teixeira J, Donahoe PK. Molecular biology of MIS and its receptors. J Androl. 1996;17:336-341.
    • (1996) J Androl , vol.17 , pp. 336-341
    • Teixeira, J.1    Donahoe, P.K.2
  • 51
  • 52
    • 12344272649 scopus 로고    scopus 로고
    • Pubertal and adult Leydig cell function in Müllerian inhibiting substance-deficient mice
    • Wu X, Arumugam R, Baker SP, Lee MM. Pubertal and adult Leydig cell function in Müllerian inhibiting substance-deficient mice. Endocrinology. 2005;146:589-595.
    • (2005) Endocrinology , vol.146 , pp. 589-595
    • Wu, X.1    Arumugam, R.2    Baker, S.P.3    Lee, M.M.4
  • 53
    • 0345377762 scopus 로고    scopus 로고
    • Anti-Müllerian hormone, beta-catenin and Müllerian duct regression
    • Xavier F, Allard S. Anti-Müllerian hormone, beta-catenin and Müllerian duct regression. Mol Cell Endocrinol. 2003;211:115-121.
    • (2003) Mol Cell Endocrinol , vol.211 , pp. 115-121
    • Xavier, F.1    Allard, S.2
  • 54
    • 2442701406 scopus 로고    scopus 로고
    • Molecular analysis of the anti-Müllerian hormone, the anti-Müllerian hormone receptor, and galactose-1-phosphate uridy1 transferase genes in patients with the Mayer-Rokitansky-Kuster-Hauser syndrome
    • Zenteno JC, Carranza-Lira S, Kofman-Alfaro S. Molecular analysis of the anti-Müllerian hormone, the anti-Müllerian hormone receptor, and galactose-1-phosphate uridy1 transferase genes in patients with the Mayer-Rokitansky-Kuster-Hauser syndrome. Arch Gynecol Obstet. 2004;269:270-273.
    • (2004) Arch Gynecol Obstet , vol.269 , pp. 270-273
    • Zenteno, J.C.1    Carranza-Lira, S.2    Kofman-Alfaro, S.3
  • 55
    • 0027177388 scopus 로고
    • Germ cell development in neonatal mouse testes in vitro requires Müllerian inhibiting substance
    • Zhou B, Watts LM, Hutson JM. Germ cell development in neonatal mouse testes in vitro requires Müllerian inhibiting substance. J Urol. 1993;150:613-616.
    • (1993) J Urol , vol.150 , pp. 613-616
    • Zhou, B.1    Watts, L.M.2    Hutson, J.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.