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Volumn 4, Issue 6, 2010, Pages 321-325

Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis

Author keywords

Sex reversal; SOX9; SRY; Swyer syndrome; TES; TESCO; Testis specific enhancer; XY gonadal dysgenesis

Indexed keywords

HOMEODOMAIN PROTEIN; TES PROTEIN, HUMAN; TESTIS DETERMINING FACTOR; TUMOR SUPPRESSOR PROTEIN;

EID: 78049340340     PISSN: 16615425     EISSN: 16615433     Source Type: Journal    
DOI: 10.1159/000320142     Document Type: Article
Times cited : (41)

References (15)
  • 1
    • 76549116740 scopus 로고    scopus 로고
    • Conserved regulatory modules in the SOX9 testis-specific enhancer predict roles for SOX, TCF/LEF, Forkhead, DMRT, and GATA proteins in vertebrate sex determination
    • Bagheri-Fam S, Sinclair AH, Koopman P, Harley VR: Conserved regulatory modules in the SOX9 testis-specific enhancer predict roles for SOX, TCF/LEF, Forkhead, DMRT, and GATA proteins in vertebrate sex determination. Int J Biochem Cell Biol 42: 472-477 (2010).
    • (2010) Int J Biochem Cell Biol , vol.42 , pp. 472-477
    • Bagheri-Fam, S.1    Sinclair, A.H.2    Koopman, P.3    Harley, V.R.4
  • 2
    • 30344475256 scopus 로고    scopus 로고
    • Homozygous inactivation of Sox9 causes complete XY sex reversal in mice
    • Barrionuevo F, Bagheri-Fam S, Klattig J, Kist R, Taketo MM, et al: Homozygous inactivation of Sox9 causes complete XY sex reversal in mice. Biol Reprod 74: 195-201 (2006).
    • (2006) Biol Reprod , vol.74 , pp. 195-201
    • Barrionuevo, F.1    Bagheri-Fam, S.2    Klattig, J.3    Kist, R.4    Taketo, M.M.5
  • 3
    • 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
  • 4
    • 0028135336 scopus 로고
    • Campomelic dys-plasia and autosomal sex reversal caused by mutations in an SRY-related gene
    • Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, et al: Campomelic dys-plasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372: 525-530 (1994).
    • (1994) Nature , vol.372 , pp. 525-530
    • Foster, J.W.1    Dominguez-Steglich, M.A.2    Guioli, S.3    Kwok, C.4    Weller, P.A.5
  • 6
    • 66349083856 scopus 로고    scopus 로고
    • Familial acampo-melic form of campomelic dysplasia caused by a 960-kb deletion upstream of SOX9
    • Lecointre C, Pichon O, Hamel A, Heloury Y, Mi-chel-Calemard L, et al: Familial acampo-melic form of campomelic dysplasia caused by a 960-kb deletion upstream of SOX9. Am J Med Genet A 149A:1183-1189 (2009).
    • (2009) Am J Med Genet A , vol.149 A , pp. 1183-1189
    • Lecointre, C.1    Pichon, O.2    Hamel, A.3    Heloury, Y.4    Mi-Chel-Calemard, L.5
  • 7
    • 33845528754 scopus 로고    scopus 로고
    • Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia
    • Leipoldt M, Erdel M, Bien-Willner GA, Smyk M, Theurl M, et al: Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. Clin Genet 71: 67-75 (2007).
    • (2007) Clin Genet , vol.71 , pp. 67-75
    • Leipoldt, M.1    Erdel, M.2    Bien-Willner, G.A.3    Smyk, M.4    Theurl, M.5
  • 8
    • 2342530409 scopus 로고    scopus 로고
    • Screening of the 1-Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal
    • Pop R, Conz C, Lindenberg KS, Blesson S, Schmalenberger B, et al: Screening of the 1-Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal. J Med Genet 41:e47 (2004).
    • (2004) J Med Genet , vol.41
    • Pop, R.1    Conz, C.2    Lindenberg, K.S.3    Blesson, S.4    Schmalenberger, B.5
  • 10
    • 0031823570 scopus 로고    scopus 로고
    • Three novel SRY mutations in XY go-nadal dysgenesis and the enigma of XY go-nadal dysgenesis cases without SRY mutations
    • Scherer G, Held M, Erdel M, Meschede D, Horst J, et al: Three novel SRY mutations in XY go-nadal dysgenesis and the enigma of XY go-nadal dysgenesis cases without SRY mutations. Cy togenet Cell Genet 80: 18 8-19 2 (19 98
    • (1998) Cy Togenet Cell Genet , vol.80 , pp. 188-192
    • Scherer, G.1    Held, M.2    Erdel, M.3    Meschede, D.4    Horst, J.5
  • 11
    • 45149093155 scopus 로고    scopus 로고
    • Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer
    • Sekido R, Lovell-Badge R: Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature 453: 930-934 (2008).
    • (2008) Nature , vol.453 , pp. 930-934
    • Sekido, R.1    Lovell-Badge, R.2
  • 12
    • 4644299516 scopus 로고    scopus 로고
    • SOX9 is up-regulated by the transient expression of SRY specifically in Ser-toli cell precursors
    • Sekido R, Bar I, Narváez V, Penny G, Lovell-Badge R: SOX9 is up-regulated by the transient expression of SRY specifically in Ser-toli cell precursors. Dev Biol 274: 271-279 (2004).
    • (2004) Dev Biol , vol.274 , pp. 271-279
    • Sekido, R.1    Bar, I.2    Narváez, V.3    Penny, G.4    Lovell-Badge, R.5
  • 13
    • 34248233673 scopus 로고    scopus 로고
    • Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus
    • Temel SG, Gulten T, Yakut T, Saglam H, Kilic N, et al: Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus. Sex Dev 1: 24-34 (2007).
    • (2007) Sex Dev , vol.1 , pp. 24-34
    • Temel, S.G.1    Gulten, T.2    Yakut, T.3    Saglam, H.4    Kilic, N.5
  • 14
    • 0034931871 scopus 로고    scopus 로고
    • Sox9 induces testis development in XX transgenic mice
    • Vidal VPI, Chaboissier MC, de Rooij DG, Schedl A: Sox9 induces testis development in XX transgenic mice. Nat Genet 28: 216-217 (2001).
    • (2001) Nat Genet , vol.28 , pp. 216-217
    • Vpi, V.1    Chaboissier, M.C.2    De Rooij, D.G.3    Schedl, A.4
  • 15
    • 0028589588 scopus 로고
    • Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
    • Wagner T, Wirth J, Meyer J, Zabel B, Held M, et al: Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 79: 1111-1120 (1994).
    • (1994) Cell , vol.79 , pp. 1111-1120
    • Wagner, T.1    Wirth, J.2    Meyer, J.3    Zabel, B.4    Held, M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.