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Volumn 2, Issue 2, 2008, Pages 84-95

Mutations in the RSPO1 coding region are not the main cause of canine SRY-negative XX sex reversal in several breeds

Author keywords

Dog; Hermaphrodite; XX male

Indexed keywords

TESTIS DETERMINING FACTOR; THROMBOSPONDIN;

EID: 46049113085     PISSN: 16615425     EISSN: 16615433     Source Type: Journal    
DOI: 10.1159/000129693     Document Type: Article
Times cited : (22)

References (44)
  • 1
    • 0023402333 scopus 로고
    • Noncoordinate regulation of de novo synthesis of cytochrome P-450 cholesterol side-chain cleavage and cytochrome P-450 17 alpha-hydroxylase/C17-20 lyase in mouse Leydig cell cultures: Relation to steroid production
    • Anakwe OO, Payne AH: Noncoordinate regulation of de novo synthesis of cytochrome P-450 cholesterol side-chain cleavage and cytochrome P-450 17 alpha-hydroxylase/C17-20 lyase in mouse Leydig cell cultures: relation to steroid production. Mol Endocrinol 1:595-603 (1987).
    • (1987) Mol Endocrinol , vol.1 , pp. 595-603
    • Anakwe, O.O.1    Payne, A.H.2
  • 2
    • 33845187080 scopus 로고    scopus 로고
    • Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia
    • Bergmann C, Senderek J, Anhuf D, Thiel CT, Ekici AB, et al: Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia. Am J Hum Genet 79:1105-1109 (2006).
    • (2006) Am J Hum Genet , vol.79 , pp. 1105-1109
    • Bergmann, C.1    Senderek, J.2    Anhuf, D.3    Thiel, C.T.4    Ekici, A.B.5
  • 3
    • 0033662409 scopus 로고    scopus 로고
    • A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse
    • Bishop CE, Whitworth DJ, Qin Y, Agoulnik AI, Agoulnik IU, et al: A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse. Nat Genet 26:490-494 (2000).
    • (2000) Nat Genet , vol.26 , pp. 490-494
    • Bishop, C.E.1    Whitworth, D.J.2    Qin, Y.3    Agoulnik, A.I.4    Agoulnik, I.U.5
  • 4
    • 33750479526 scopus 로고    scopus 로고
    • The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia
    • Blaydon DC, Ishii Y, O'Toole EA, Unsworth HC, Teh MT, et al: The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet 38:1245-1247 (2006).
    • (2006) Nat Genet , vol.38 , pp. 1245-1247
    • Blaydon, D.C.1    Ishii, Y.2    O'Toole, E.A.3    Unsworth, H.C.4    Teh, M.T.5
  • 5
    • 3042762359 scopus 로고    scopus 로고
    • One tissue, two fates: Molecular genetic events that underlie testis versus ovary development
    • Brennan J, Capel B: One tissue, two fates: molecular genetic events that underlie testis versus ovary development. Nat Rev Genet 5:509-521 (2004).
    • (2004) Nat Rev Genet , vol.5 , pp. 509-521
    • Brennan, J.1    Capel, B.2
  • 6
    • 0033628159 scopus 로고    scopus 로고
    • SRY-negative, XX intersex horses: The need for pedigree studies to examine the mode of inheritance of the condition
    • Buoen LC, Zhang TQ, Weber AF, Ruth GR: SRY-negative, XX intersex horses: the need for pedigree studies to examine the mode of inheritance of the condition. Equine Vet J 32:78-81 (2000).
    • (2000) Equine Vet J , vol.32 , pp. 78-81
    • Buoen, L.C.1    Zhang, T.Q.2    Weber, A.F.3    Ruth, G.R.4
  • 8
    • 42449095964 scopus 로고    scopus 로고
    • Activation of {beta}-catenin signalling by Rspo1 controls differentiation of the mammalian ovary
    • Chassot AA, Ranc F, Gregoire EP, Roepers-Gajadien HL, Taketo MM, et al: Activation of {beta}-catenin signalling by Rspo1 controls differentiation of the mammalian ovary. Hum Mol Genet 17:1264-1277 (2008).
    • (2008) Hum Mol Genet , vol.17 , pp. 1264-1277
    • Chassot, A.A.1    Ranc, F.2    Gregoire, E.P.3    Roepers-Gajadien, H.L.4    Taketo, M.M.5
  • 9
    • 0037318857 scopus 로고    scopus 로고
    • FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
    • DeBaere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, et al: FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet 72:478-487 (2003).
    • (2003) Am J Hum Genet , vol.72 , pp. 478-487
    • DeBaere, E.1    Beysen, D.2    Oley, C.3    Lorenz, B.4    Cocquet, J.5    De Sutter, P.6
  • 11
    • 38049014941 scopus 로고    scopus 로고
    • SRY and the standoff in sex determination
    • DiNapoli I, Capel B: SRY and the standoff in sex determination. Mol Endocrinol 22:1-9 (2008).
    • (2008) Mol Endocrinol , vol.22 , pp. 1-9
    • DiNapoli, I.1    Capel, B.2
  • 14
    • 5044244757 scopus 로고    scopus 로고
    • R-Spondin2 is a secreted activator of Wnt/beta catenin signaling and is required for Xenopus myogenesis
    • Kazanskaya O, Glinka A, del Barco Barrantes I, Stannek P, Niehrs C, Wu W: R-Spondin2 is a secreted activator of Wnt/beta catenin signaling and is required for Xenopus myogenesis. Dev Cell 7:525-534 (2004).
    • (2004) Dev Cell , vol.7 , pp. 525-534
    • Kazanskaya, O.1    Glinka, A.2    del Barco Barrantes, I.3    Stannek, P.4    Niehrs, C.5    Wu, W.6
  • 15
    • 33645318206 scopus 로고    scopus 로고
    • R-Spondin proteins: A novel link to beta catenin activation
    • Kim KA, Zhao J, Andarmani S, Kakitani M, Oshima T, et al: R-Spondin proteins: a novel link to beta catenin activation. Cell Cycle 5:23-26 (2006).
    • (2006) Cell Cycle , vol.5 , pp. 23-26
    • Kim, K.A.1    Zhao, J.2    Andarmani, S.3    Kakitani, M.4    Oshima, T.5
  • 16
  • 17
    • 0023688891 scopus 로고
    • XX sex reversal in the American cocker spaniel dog: Phenotypic expression and inheritance
    • Meyers-Wallen VN, Patterson DF: XX sex reversal in the American cocker spaniel dog: phenotypic expression and inheritance. Hum Genet 80:23-30 (1988).
    • (1988) Hum Genet , vol.80 , pp. 23-30
    • Meyers-Wallen, V.N.1    Patterson, D.F.2
  • 19
  • 24
    • 0028519145 scopus 로고
    • Genetic analysis of 38XX males with genital ambiguities and true hermaphrodites in pigs
    • Pailhoux E, Popescu PC, Parma P, Boscher J, Legault C, et al: Genetic analysis of 38XX males with genital ambiguities and true hermaphrodites in pigs. Anim Genet 25:299-305 (1994).
    • (1994) Anim Genet , vol.25 , pp. 299-305
    • Pailhoux, E.1    Popescu, P.C.2    Parma, P.3    Boscher, J.4    Legault, C.5
  • 25
    • 0035733723 scopus 로고    scopus 로고
    • A 11.7-kb deletion triggers intersexuality and polledness in goats
    • Pailhoux E, Vigier B, Chaffaux S, Servel N, Taourit S, et al: A 11.7-kb deletion triggers intersexuality and polledness in goats. Nat Genet 29:453-458 (2001a).
    • (2001) Nat Genet , vol.29 , pp. 453-458
    • Pailhoux, E.1    Vigier, B.2    Chaffaux, S.3    Servel, N.4    Taourit, S.5
  • 26
    • 0035757654 scopus 로고    scopus 로고
    • Mammalian gonadal differentiation: The pig model
    • Pailhoux E, Mandon-Pepin B, Cotinot C: Mammalian gonadal differentiation: the pig model. Reprod Suppl 58:65-80 (2001b).
    • (2001) Reprod , Issue.SUPPL. 58 , pp. 65-80
    • Pailhoux, E.1    Mandon-Pepin, B.2    Cotinot, C.3
  • 27
    • 18844437228 scopus 로고    scopus 로고
    • Ovarian-specific expression of a new gene regulated by the goat PIS region and transcribed by a FOXL2 bidirectional promoter
    • Pannetier M, Renault L, Jolivet G, Cotinot C, Pailhoux E: Ovarian-specific expression of a new gene regulated by the goat PIS region and transcribed by a FOXL2 bidirectional promoter. Genomics 85:715-726 (2005).
    • (2005) Genomics , vol.85 , pp. 715-726
    • Pannetier, M.1    Renault, L.2    Jolivet, G.3    Cotinot, C.4    Pailhoux, E.5
  • 28
    • 33746784794 scopus 로고    scopus 로고
    • Goat SRY induces testis development in XX transgenic mice
    • Pannetier M, Tilly G, Kocer A, Hudrisier M, Renault L, et al: Goat SRY induces testis development in XX transgenic mice. FEBS Lett 580:3715-3720 (2006).
    • (2006) FEBS Lett , vol.580 , pp. 3715-3720
    • Pannetier, M.1    Tilly, G.2    Kocer, A.3    Hudrisier, M.4    Renault, L.5
  • 29
    • 33750489078 scopus 로고    scopus 로고
    • R-spondin is essential in sex determination, skin differentiation and malignancy
    • Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, et al: R-spondin is essential in sex determination, skin differentiation and malignancy. Nat Genet 38:1304-1309 (2006).
    • (2006) Nat Genet , vol.38 , pp. 1304-1309
    • Parma, P.1    Radi, O.2    Vidal, V.3    Chaboissier, M.C.4    Dellambra, E.5
  • 30
    • 33846195840 scopus 로고    scopus 로고
    • Sry and the hesitant beginnings of male development
    • Polanco JC, Koopman P: Sry and the hesitant beginnings of male development. Dev Biol 302:3-24 (2007).
    • (2007) Dev Biol , vol.302 , pp. 3-24
    • Polanco, J.C.1    Koopman, P.2
  • 31
    • 34547676022 scopus 로고    scopus 로고
    • Three loci on mouse chromosomes 5 and 10 modulate sex determination in XX Ods/+ mice
    • Poirier C, Moran JL, Kovanci E, Petit DC, Beier DR, Bishop CE: Three loci on mouse chromosomes 5 and 10 modulate sex determination in XX Ods/+ mice. Genesis 45:452-455 (2007).
    • (2007) Genesis , vol.45 , pp. 452-455
    • Poirier, C.1    Moran, J.L.2    Kovanci, E.3    Petit, D.C.4    Beier, D.R.5    Bishop, C.E.6
  • 32
    • 34548404658 scopus 로고    scopus 로고
    • Linkage to CFA29 detected in a genome-wide linkage screen of a canine pedigree segregating SRY-negative XX sex reversal
    • Pujar S, Kothapalli KSD, Goring HHH, Meyers-Wallen VN: Linkage to CFA29 detected in a genome-wide linkage screen of a canine pedigree segregating SRY-negative XX sex reversal. J Hered 98:438-444 (2007).
    • (2007) J Hered , vol.98 , pp. 438-444
    • Pujar, S.1    Kothapalli, K.S.D.2    Goring, H.H.H.3    Meyers-Wallen, V.N.4
  • 33
    • 18144402886 scopus 로고    scopus 로고
    • Sox9 is sufficient for functional testis development producing fertile male mice in the absence of Sry
    • Qin Y, Bishop CE: Sox9 is sufficient for functional testis development producing fertile male mice in the absence of Sry. Hum Mol Genet 14:1221-1229 (2005).
    • (2005) Hum Mol Genet , vol.14 , pp. 1221-1229
    • Qin, Y.1    Bishop, C.E.2
  • 34
    • 11144329603 scopus 로고    scopus 로고
    • Signaling at the crossroads of gonad development
    • Ross AJ, Capel B:Signaling at the crossroads of gonad development. Trends Endocrinol Metabol 16:19-25 (2005).
    • (2005) Trends Endocrinol Metabol , vol.16 , pp. 19-25
    • Ross, A.J.1    Capel, B.2
  • 36
    • 0025364886 scopus 로고
    • A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
    • Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, et al: A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240-244 (1990).
    • (1990) Nature , vol.346 , pp. 240-244
    • Sinclair, A.H.1    Berta, P.2    Palmer, M.S.3    Hawkins, J.R.4    Griffiths, B.L.5
  • 37
    • 0037191047 scopus 로고    scopus 로고
    • Crystal structure of the TSP-1 type 1 repeats: A novel layered fold and its biological implication
    • Tan K, Duquette M, Liu JH, Dong Y, Zhang R, et al: Crystal structure of the TSP-1 type 1 repeats: a novel layered fold and its biological implication. J Cell Biol 159:373-382 (2002).
    • (2002) J Cell Biol , vol.159 , pp. 373-382
    • Tan, K.1    Duquette, M.2    Liu, J.H.3    Dong, Y.4    Zhang, R.5
  • 38
    • 38949110809 scopus 로고    scopus 로고
    • Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation
    • Tomaselli S, Megiorni F, De Bernardo C, Felici A, Marrocco G, et al: Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation. Hum Mutat 29:220-226 (2008).
    • (2008) Hum Mutat , vol.29 , pp. 220-226
    • Tomaselli, S.1    Megiorni, F.2    De Bernardo, C.3    Felici, A.4    Marrocco, G.5
  • 39
    • 42449158088 scopus 로고    scopus 로고
    • R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling
    • Tomizuka K, Horikoshi K, Kitada R, Sugawara Y, Iba Y, et al: R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling. Hum Mol Genet 17:1278-1291 (2008).
    • (2008) Hum Mol Genet , vol.17 , pp. 1278-1291
    • Tomizuka, K.1    Horikoshi, K.2    Kitada, R.3    Sugawara, Y.4    Iba, Y.5
  • 41
    • 0022273399 scopus 로고
    • Secretion of anti-Mullerian hormone by immature bovine Sertoli cells in primary culture, studied by a competition-type radioimmunoassay: Lack of modulation by either FSH or testosterone
    • Vigier B, Picard JY, Campargue J, Forest MG, Heyman Y, Josso N: Secretion of anti-Mullerian hormone by immature bovine Sertoli cells in primary culture, studied by a competition-type radioimmunoassay: lack of modulation by either FSH or testosterone. Mol Cell Endocrinol 43:141-150 (1985).
    • (1985) Mol Cell Endocrinol , vol.43 , pp. 141-150
    • Vigier, B.1    Picard, J.Y.2    Campargue, J.3    Forest, M.G.4    Heyman, Y.5    Josso, N.6
  • 42
    • 34447526784 scopus 로고    scopus 로고
    • R-spondin1 is a high affinity ligand for LRP6 and induces LRP6 phosphorylation and beta catenin signaling
    • Wei Q, Yokota C, Semenov MV, Doble B, Woodgett J, He X: R-spondin1 is a high affinity ligand for LRP6 and induces LRP6 phosphorylation and beta catenin signaling. J Biol Chem 282:15903-15911 (2007).
    • (2007) J Biol Chem , vol.282 , pp. 15903-15911
    • Wei, Q.1    Yokota, C.2    Semenov, M.V.3    Doble, B.4    Woodgett, J.5    He, X.6
  • 43
    • 33846829951 scopus 로고    scopus 로고
    • Sex determination and gonadal development in mammals
    • Wilhelm D, Palmer S, Koopman P: Sex determination and gonadal development in mammals. Physiol Rev 87:1-28 (2006).
    • (2006) Physiol Rev , vol.87 , pp. 1-28
    • Wilhelm, D.1    Palmer, S.2    Koopman, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.