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Volumn 23, Issue 8, 2015, Pages 1025-1032

Testis development in the absence of SRY: Chromosomal rearrangements at SOX9 and SOX3

(28)  Vetro, Annalisa a   Dehghani, Mohammad Reza b,c   Kraoua, Lilia d   Giorda, Roberto e   Beri, Silvana e   Cardarelli, Laura f   Merico, Maurizio g   Manolakos, Emmanouil h   Parada Bustamante, Alexis i   Castro, Andrea i   Radi, Orietta b   Camerino, Giovanna b   Brusco, Alfredo j   Sabaghian, Marjan k   Sofocleous, Crystalena l   Forzano, Francesca m   Palumbo, Pietro n   Palumbo, Orazio n   Calvano, Savino n   Zelante, Leopoldo n   more..


Author keywords

[No Author keywords available]

Indexed keywords

TESTIS DETERMINING FACTOR; TRANSCRIPTION FACTOR SOX3; TRANSCRIPTION FACTOR SOX9; SOX1 PROTEIN, HUMAN; SOX3 PROTEIN, HUMAN; SOX9 PROTEIN, HUMAN; TRANSCRIPTION FACTOR SOX;

EID: 84937526184     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.237     Document Type: Article
Times cited : (61)

References (46)
  • 1
    • 0025250731 scopus 로고
    • Genetic evidence equating SRY and the testis-determining factor
    • Berta P, Hawkins JR, Sinclair AH et al: Genetic evidence equating SRY and the testis-determining factor. Nature 1990; 348: 448-450.
    • (1990) Nature , vol.348 , pp. 448-450
    • Berta, P.1    Hawkins, J.R.2    Sinclair, A.H.3
  • 2
    • 0032585539 scopus 로고    scopus 로고
    • A selective difference between human Y-chromosomal DNA haplotypes
    • Jobling MA: A selective difference between human Y-chromosomal DNA haplotypes. Curr Biol 1998; 8: 4.
    • (1998) Curr Biol , vol.8 , pp. 4
    • Ma, J.1
  • 3
    • 67649628996 scopus 로고    scopus 로고
    • Gene conversion between the X chromosome and the male-specific region of the y chromosome at a translocation hotspot
    • Rosser ZH, Balaresque P, Jobling MA: Gene conversion between the X chromosome and the male-specific region of the Y chromosome at a translocation hotspot. Am J Hum Genet 2009; 85: 130-134.
    • (2009) Am J Hum Genet , vol.85 , pp. 130-134
    • Zh, R.1    Balaresque, P.2    Ma, J.3
  • 4
    • 84856009018 scopus 로고    scopus 로고
    • Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
    • Benko S, Gordon CT, Mallet D et al: Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet 2011; 48: 825-830.
    • (2011) J Med Genet , vol.48 , pp. 825-830
    • Benko, S.1    Gordon, C.T.2    Mallet, D.3
  • 5
    • 78650924037 scopus 로고    scopus 로고
    • A SOX9 duplication and familial 46, XX developmental testicular disorder
    • Cox JJ, Willatt L, Homfray T, Woods CG: A SOX9 duplication and familial 46, XX developmental testicular disorder. N Engl J Med 2011; 364: 91-93.
    • (2011) N Engl J Med , vol.364 , pp. 91-93
    • Cox, J.J.1    Willatt, L.2    Homfray, T.3    Woods, C.G.4
  • 6
    • 80955165995 scopus 로고    scopus 로고
    • XX males SRY negative: A confirmed cause of infertility
    • Vetro A, Ciccone R, Giorda R et al: XX males SRY negative: a confirmed cause of infertility. J Med Genet 2011; 48: 710-712.
    • (2011) J Med Genet , vol.48 , pp. 710-712
    • Vetro, A.1    Ciccone, R.2    Giorda, R.3
  • 7
    • 84888032352 scopus 로고    scopus 로고
    • A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9
    • Xiao B, Ji X, Xing Y, Chen YW, Tao J: A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9. Eur J Med Genet 2013; 56: 695-698.
    • (2013) Eur J Med Genet , vol.56 , pp. 695-698
    • Xiao, B.1    Ji, X.2    Xing, Y.3    Chen, Y.W.4    Tao, J.5
  • 8
    • 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 2008; 453: 930-934.
    • (2008) Nature , vol.453 , pp. 930-934
    • Sekido, R.1    Lovell-Badge, R.2
  • 11
    • 61349104285 scopus 로고    scopus 로고
    • Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
    • Benko S, Fantes JA, Amiel J et al: Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet 2009; 41: 359-364.
    • (2009) Nat Genet , vol.41 , pp. 359-364
    • Benko, S.1    Fantes, J.A.2    Amiel, J.3
  • 12
    • 79952333478 scopus 로고    scopus 로고
    • Copy number variation in patients with disorders of sex development due to 46, XY gonadal dysgenesis
    • White S, Ohnesorg T, Notini A et al: Copy number variation in patients with disorders of sex development due to 46, XY gonadal dysgenesis. PLoS One 2011; 6: e17793.
    • (2011) PLoS One , vol.6 , pp. e17793
    • White, S.1    Ohnesorg, T.2    Notini, A.3
  • 13
    • 84887607312 scopus 로고    scopus 로고
    • Congenital Heart Defects in Patients with Deletions Upstream of SOX9
    • Sanchez-Castro M, Gordon CT, Petit F et al: Congenital Heart Defects in Patients with Deletions Upstream of SOX9. Hum Mutat 2013; 34: 1628-1631.
    • (2013) Hum Mutat , vol.34 , pp. 1628-1631
    • Sanchez-Castro, M.1    Gordon, C.T.2    Petit, F.3
  • 14
    • 68149169945 scopus 로고    scopus 로고
    • Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia
    • Kurth I, Klopocki E, Stricker S et al: Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nat Genet 2009; 41: 862-863.
    • (2009) Nat Genet , vol.41 , pp. 862-863
    • Kurth, I.1    Klopocki, E.2    Stricker, S.3
  • 15
    • 75449089508 scopus 로고    scopus 로고
    • De novo 12;17 translocation upstream of SOX9 resulting in 46 XX testicular disorder of sex development
    • Refai O, Friedman A, Terry L et al: De novo 12;17 translocation upstream of SOX9 resulting in 46, XX testicular disorder of sex development. Am J Med Genet A 2010; 152A: 422-426.
    • (2010) Am J Med Genet A , vol.152 A , pp. 422-426
    • Refai, O.1    Friedman, A.2    Terry, L.3
  • 16
    • 78650938438 scopus 로고    scopus 로고
    • Identification of SOX3 as an XX male sex reversal gene in mice and humans
    • Sutton E, Hughes J, White S et al: Identification of SOX3 as an XX male sex reversal gene in mice and humans. J Clin Invest 2011; 121: 328-341.
    • (2011) J Clin Invest , vol.121 , pp. 328-341
    • Sutton, E.1    Hughes, J.2    White, S.3
  • 17
    • 84862704270 scopus 로고    scopus 로고
    • XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication
    • Moalem S, Babul-Hirji R, Stavropolous DJ et al: XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication. Am J Med Genet A 2012; 158A: 1759-1764.
    • (2012) Am J Med Genet A , vol.158 A , pp. 1759-1764
    • Moalem, S.1    Babul-Hirji, R.2    Stavropolous, D.J.3
  • 18
    • 84879884404 scopus 로고    scopus 로고
    • CNVs of noncoding cis-regulatory elements in human disease
    • Spielmann M, Klopocki E: CNVs of noncoding cis-regulatory elements in human disease. Curr Opin Genet Dev 2013; 23: 249-256.
    • (2013) Curr Opin Genet Dev , vol.23 , pp. 249-256
    • Spielmann, M.1    Klopocki, E.2
  • 19
    • 79960964869 scopus 로고    scopus 로고
    • Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome
    • Bonaglia MC, Giorda R, Beri S et al: Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet 2011; 7: e1002173.
    • (2011) PLoS Genet , vol.7 , pp. e1002173
    • Bonaglia, M.C.1    Giorda, R.2    Beri, S.3
  • 20
    • 0026678490 scopus 로고
    • Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
    • Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW: Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992; 51: 1229-1239.
    • (1992) Am J Hum Genet , vol.51 , pp. 1229-1239
    • Allen, R.C.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 21
    • 84862262236 scopus 로고    scopus 로고
    • De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s
    • Rossi E, Giorda R, Bonaglia MC et al: De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s. PLoS One 2012; 7: e39180.
    • (2012) PLoS One , vol.7 , pp. e39180
    • Rossi, E.1    Giorda, R.2    Bonaglia, M.C.3
  • 22
    • 0031860393 scopus 로고    scopus 로고
    • Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL
    • Heinemeyer T, Wingender E, Reuter I et al: Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL. Nucleic Acids Res 1998; 26: 362-367.
    • (1998) Nucleic Acids Res , vol.26 , pp. 362-367
    • Heinemeyer, T.1    Wingender, E.2    Reuter, I.3
  • 24
    • 66349083856 scopus 로고    scopus 로고
    • Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream ofSOX9
    • Lecointre C, Pichon O, Hamel A et al: Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream ofSOX9. Am J Med Genet Part A 2009; 149A: 1183-1189.
    • (2009) Am J Med Genet Part A , vol.149 A , pp. 1183-1189
    • Lecointre, C.1    Pichon, O.2    Hamel, A.3
  • 25
    • 84902277222 scopus 로고    scopus 로고
    • Familial 46, XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene
    • Bhagavath B, Layman LC, Ullmann R et al: Familial 46, XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene. Mol Cell Endocrinol 2014; 393: 1-7.
    • (2014) Mol Cell Endocrinol , vol.393 , pp. 1-7
    • Bhagavath, B.1    Layman, L.C.2    Ullmann, R.3
  • 27
    • 71149095052 scopus 로고    scopus 로고
    • Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation
    • Uhlenhaut NH, Jakob S, Anlag K et al: Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation. Cell 2009; 139: 1130-1142.
    • (2009) Cell , vol.139 , pp. 1130-1142
    • Uhlenhaut, N.H.1    Jakob, S.2    Anlag, K.3
  • 28
    • 84862689346 scopus 로고    scopus 로고
    • Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula
    • Fukami M, Tsuchiya T, Takada S et al: Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula. Am J Med Genet A 2012; 158A: 1529-1534.
    • (2012) Am J Med Genet A , vol.158 A , pp. 1529-1534
    • Fukami, M.1    Tsuchiya, T.2    Takada, S.3
  • 29
    • 84904405924 scopus 로고    scopus 로고
    • Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence
    • Gordon CT, Attanasio C, Bhatia S et al: Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Hum Mutat 2014; 35: 1011-1020.
    • (2014) Hum Mutat , vol.35 , pp. 1011-1020
    • Gordon, C.T.1    Attanasio, C.2    Bhatia, S.3
  • 30
    • 84891783452 scopus 로고    scopus 로고
    • The Database of Genomic Variants: A curated collection of structural variation in the human genome
    • Macdonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW: The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res 2014; 42: D986-D992.
    • (2014) Nucleic Acids Res , vol.42 , pp. D986-D992
    • Macdonald, J.R.1    Ziman, R.2    Yuen, R.K.3    Feuk, L.4    Scherer, S.W.5
  • 31
    • 84877072005 scopus 로고    scopus 로고
    • The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: Two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
    • Fonseca AC, Bonaldi A, Bertola DR, Kim CA, Otto PA, Vianna-Morgante AM: The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. BMC Med Genet 2013; 14: 50.
    • (2013) BMC Med Genet , vol.14 , pp. 50
    • Fonseca, A.C.1    Bonaldi, A.2    Bertola, D.R.3    Kim, C.A.4    Otto, P.A.5    Vianna-Morgante, A.M.6
  • 32
    • 15944392851 scopus 로고    scopus 로고
    • Fine mapping of chromosome 17 translocation breakpoints≥ 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia
    • Hill-Harfe KL, Kaplan L, Stalker HJ et al: Fine mapping of chromosome 17 translocation breakpoints≥ 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia. Am J Hum Genet 2005; 76: 663-671.
    • (2005) Am J Hum Genet , vol.76 , pp. 663-671
    • Hill-Harfe, K.L.1    Kaplan, L.2    Stalker, H.J.3
  • 33
    • 15944402131 scopus 로고    scopus 로고
    • Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia
    • Velagaleti GV, Bien-Willner GA, Northup JK et al: Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet 2005; 76: 652-662.
    • (2005) Am J Hum Genet , vol.76 , pp. 652-662
    • Velagaleti, G.V.1    Bien-Willner, G.A.2    Northup, J.K.3
  • 34
    • 84876815438 scopus 로고    scopus 로고
    • Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect
    • Amarillo IE, Dipple KM, Quintero-Rivera F: Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. Am J Med Genet A 2013; 161A: 1167-1172.
    • (2013) Am J Med Genet A , vol.161 A , pp. 1167-1172
    • Amarillo, I.E.1    Dipple, K.M.2    Quintero-Rivera, F.3
  • 35
    • 0028288951 scopus 로고
    • An SRY-related sequence on the marsupial X chromosome: Implications for the evolution of the mammalian testis-determining gene
    • Foster JW, Graves JA: An SRY-related sequence on the marsupial X chromosome: implications for the evolution of the mammalian testis-determining gene. Proc Natl Acad Sci USA 1994; 91: 1927-1931.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 1927-1931
    • Foster, J.W.1    Graves, J.A.2
  • 37
    • 20244386714 scopus 로고    scopus 로고
    • Over-and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism
    • Woods KS, Cundall M, Turton J et al: Over-and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Am J Hum Genet 2005; 76: 833-849.
    • (2005) Am J Hum Genet , vol.76 , pp. 833-849
    • Woods, K.S.1    Cundall, M.2    Turton, J.3
  • 38
    • 84883639192 scopus 로고    scopus 로고
    • SOX9 Duplication Linked to Intersex in Deer
    • Kropatsch R, Dekomien G, Akkad DA et al: SOX9 Duplication Linked to Intersex in Deer. PLoS One 2013; 8: e73734.
    • (2013) PLoS One , vol.8 , pp. e73734
    • Kropatsch, R.1    Dekomien, G.2    Akkad, D.A.3
  • 39
    • 84904251073 scopus 로고    scopus 로고
    • Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs
    • Rossi E, Radi O, De Lorenzi L et al: Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs. PLoS One 2014; 9: e101244.
    • (2014) PLoS One , vol.9 , pp. e101244
    • Rossi, E.1    Radi, O.2    De Lorenzi, L.3
  • 40
    • 84899146879 scopus 로고    scopus 로고
    • RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts
    • Lybaek H, de Bruijn D, den Engelsman-van Dijk AH et al: RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts. Epigenetics 2014; 9: 416-427.
    • (2014) Epigenetics , vol.9 , pp. 416-427
    • Lybaek, H.1    De Bruijn, D.2    den Engelsman-van Dijk, A.H.3
  • 41
    • 84891828630 scopus 로고    scopus 로고
    • Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter
    • Smyk M, Szafranski P, Startek M, Gambin A, Stankiewicz P: Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter. Chromosome Res 2013; 21: 781-788.
    • (2013) Chromosome Res , vol.21 , pp. 781-788
    • Smyk, M.1    Szafranski, P.2    Startek, M.3    Gambin, A.4    Stankiewicz, P.5
  • 43
    • 37249022297 scopus 로고    scopus 로고
    • Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: A study of 59 patients
    • De Gregori M, Ciccone R, Magini P et al: Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 2007; 44: 750-762.
    • (2007) J Med Genet , vol.44 , pp. 750-762
    • De Gregori, M.1    Ciccone, R.2    Magini, P.3
  • 44
    • 77954040599 scopus 로고    scopus 로고
    • Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal
    • Jakubiczka S, Schroder C, Ullmann R et al: Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal. Sex Dev 2010; 4: 143-149.
    • (2010) Sex Dev , vol.4 , pp. 143-149
    • Jakubiczka, S.1    Schroder, C.2    Ullmann, R.3
  • 45
    • 84869888708 scopus 로고    scopus 로고
    • Delineating the 17q24.2-q24.3 microdeletion syndrome phenotype
    • Lestner JM, Ellis R, Canham N: Delineating the 17q24.2-q24.3 microdeletion syndrome phenotype. Eur J Med Genet 2012; 55: 700-704.
    • (2012) Eur J Med Genet , vol.55 , pp. 700-704
    • Lestner, J.M.1    Ellis, R.2    Canham, N.3
  • 46
    • 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: 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 2004; 41: e47-e47.
    • (2004) J Med Genet , vol.41 , pp. e47-e47
    • Pop, R.1


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