Gimelli G, Gimelli S, Dimasi N, Bocciardi R, Di Battista E, Pramparo T, Zuffardi O: Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. Eur J Hum Genet. 2007, 15: 76-80. 10.1038/sj.ejhg.5201719.
Article
CAS
PubMed
Google Scholar
Lopez M, Canto P, Aguinaga M: Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome. Am J Med Genet. 1998, 76: 120-124. 10.1002/(SICI)1096-8628(19980305)76:2<120::AID-AJMG3>3.0.CO;2-X.
Article
CAS
PubMed
Google Scholar
Patsalis PC, Sismani C, Hadjimarcou MI: Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients. Clin Genet. 1998, 53: 249-257. 10.1111/j.1399-0004.1998.tb02691.x.
Article
CAS
PubMed
Google Scholar
Scully RE: Gonadoblastoma: a review of 74 cases. Cancer. 1970, 25: 1340-1356. 10.1002/1097-0142(197006)25:6<1340::AID-CNCR2820250612>3.0.CO;2-N.
Article
CAS
PubMed
Google Scholar
Sinclair AH, Beerta P, Palmer MS, Hawkins JR, Griffiths BL, Goodfellow PN, Fellous M: A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature. 1990, 346: 240-244. 10.1038/346240a0.
Article
CAS
PubMed
Google Scholar
Brennan J, Capel B: One tissue, two fates: molecular genetic events that underlie testis versus ovary development. Nat Rev Genet. 2004, 5: 509-521. 10.1038/nrg1381.
Article
CAS
PubMed
Google Scholar
Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R: Male development of chromosomally female mice transgenic for Sry. Nature. 1991, 351: 117-21. 10.1038/351117a0.
Article
CAS
PubMed
Google Scholar
Harley VR, Jackson DI, Hextall PJ, Hawkins JR, Berkovitz GD, Sockanathan S, Lovell-Badge R, Goodfellow PN: DNA binding activity of recombinant SRY from normal males and XY females. Science. 1992, 255: 453-456. 10.1126/science.1734522.
Article
CAS
PubMed
Google Scholar
Behlke MA, Began JS, Page DC: Evidence that the SRY protein encoded by a single exon on the human Y-chromosome. Genomics. 1993, 17: 736-739. 10.1006/geno.1993.1395.
Article
CAS
PubMed
Google Scholar
Cameron FJ, Sinclair AH: Mutations in SRY, SOX9: testis determining gene. Human Mutat. 1997, 9: 388-395. 10.1002/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.0.CO;2-0.
Article
CAS
Google Scholar
Margarit E, Soler A, Carrio A, Oliva R, Costa D, Vendrell T, Rosell J, Ballesta F: Molecular, cytogenetic and clinical characterization of six XX males including one prenatal diagnosis. J Med Genet. 1998, 35: 727-730. 10.1136/jmg.35.9.727.
Article
CAS
PubMed
PubMed Central
Google Scholar
Assumpcao JG, Benedetti CE, Maciel-Guerra AT, Guerra G, Baptista MTM, Scolfaro MR, de Mello MP: Novel mutations affecting SRY DNA-binding activity: the HMG box N65 H associated with 46, XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotype. J Mol Med. 2002, 80: 782-790. 10.1007/s00109-002-0376-9.
Article
CAS
PubMed
Google Scholar
Shahid M, Dhillon VS, Jain N, Hedau S, Diwakar S, Sachdeva P, Batra S, Das BC, Husain SA: Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46, XY females with sex reversal and gonadal tumour formation. Mol Hum Reprod. 2004, 10: 521-526. 10.1093/molehr/gah071.
Article
CAS
PubMed
Google Scholar
McElreavey K, Fellous M: Sex determination and the Y chromosome. Am J Med Genet. 1999, 89: 176-185. 10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B.
Article
CAS
PubMed
Google Scholar
Pontiggia A, Rimini R, Harley VR, Goodfellow PN, Lovell-Badge R, Bianchi ME: Sex-reversing mutations affect the architecture of SRY-DNA complexes. EMBO J. 1994, 13: 6115-6124.
CAS
PubMed
PubMed Central
Google Scholar
Sudbeck P, Scherer G: Two independent nuclear localization signals are present in the DNA-binding high-mobility group domains of SRY and SOX9. J Biol Chem. 1997, 272: 27848-27852. 10.1074/jbc.272.44.27848.
Article
CAS
PubMed
Google Scholar
Wilson M, Koopman P: Matching SOX: partner proteins and cofactors of the SOX family of transcriptional regulators. Curr Opin Genet Dev. 2002, 12: 441-446. 10.1016/S0959-437X(02)00323-4.
Article
CAS
PubMed
Google Scholar
Werner MH, Bianchi ME, Gronenborn AM, Clore GM: NMR spectroscopic analysis of the DNA conformation induced by the human testis determining factor SRY. Biochemistry. 1995, 34: 11998-12004. 10.1021/bi00037a042.
Article
CAS
PubMed
Google Scholar
Takagi A, Imai A, Tamaya T: A novel sex-determining region on Y (SRY) nonsense mutation identified in a 45, X/47, XYY female. Fertil Steril. 1999, 72: 167-169. 10.1016/S0015-0282(99)00168-5.
Article
CAS
PubMed
Google Scholar
Canto P, De La Chesnaye E, Lopez M, Cervantes A, Chavez B, Vilchis F, Reyes E, Ulloa-Auirre A, Kofman-Alfaro S, Mendez JP: A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism. J Clin Endocrinol Metab. 2000, 85: 1908-1911. 10.1210/jc.85.5.1908.
CAS
PubMed
Google Scholar
Fernandez R, Marchal JA, Sanchez A, Pasaro E: A point mutation, R59G, within HMG-SRY box in a female 45, X/46, X, psu dic(Y)(pter→q11::q11→pter). Hum Genet. 2002, 111: 242-246. 10.1007/s00439-002-0767-6.
Article
CAS
PubMed
Google Scholar
Shahid M, Dhillon VS, Aslam M, Husain SA: Three new novel point mutations localized within and downstream of High-Mobility Group-box region in SRY gene in three Indian females with Turner syndrome. J Clin Endocrinol Metab. 2005, 90: 2429-2435. 10.1210/jc.2004-1110.
Article
CAS
PubMed
Google Scholar
McElreavey K, Vilain E, Abbas N, Costa JM, Souleyreau N, Kucheria K, Boucekkine C, Thibaud E, Brauner R, Flamant F: XY sex reversal associated with deletion 50 to the SRY HMG-box in the testis determining region. Proc Natl Acad Sci USA. 1992, 89: 11016-11020. 10.1073/pnas.89.22.11016.
Article
Google Scholar
Isidor B, capito C, Paris F, Baron S, Corradini N, Cabaret B, Leclair M-D, Giraud M, Martin-Coignard D, David A, Sultan C, Le Caignec C: Familial frame shift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome. J Clin Endocrin Metab. 2009, 94: 3467-3471. 10.1210/jc.2009-0226.
Article
CAS
Google Scholar
Manuel M, Katayama KP, Jones HW: The age of occurrence of gonadal tumors in intersexes patients with a Y chromosome. Am J Obstet Gynecol. 1976, 124: 293-300.
Article
CAS
PubMed
Google Scholar
Schmitt-Ney M, Thiele H, Kaltwaber P, Bardoni B, Cisternino M, Scherer G: Two novel SRY missense mutation reducing DNA binding identified in XY females and their mosaic father. Am J Hum Genet. 1993, 56: 862-869.
Google Scholar
Tajima T, Nakae J, Shinohara N, Fujieda K: A novel mutation localized in the 3' non-HMG box region of the SRY gene in 46, XY gonadal dysgenesis. Hum Mol Genet. 1994, 3: 1187-1189. 10.1093/hmg/3.7.1187.
Article
CAS
PubMed
Google Scholar
Uehara S, Funato T, Yaegashi N, Suzuki H, Sato J, Sasaki T, Yajima A: SRY mutation and tumor formation on the gonads of XY pure gonadal dysgenesis patients. Cancer Genet Cytogenet. 1999, 113: 78-84. 10.1016/S0165-4608(99)00010-2.
Article
CAS
PubMed
Google Scholar
Uehera S, Hashiyada M, Sato K, Nata M, Funato T, Okamura K: Complete XY gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation. J Hum Genet. 2002, 47: 279-284. 10.1007/s100380200040.
Article
Google Scholar
Page DC: Hypothesis: a Y chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development. 1987, 101: 151-155.
PubMed
Google Scholar
Kersemaekers AM, Honecker F, Stoop H, Cools M, Molier M, Wolffenbuttel K, Bokemeyer C, Li Y, Lau YF, Oosterhuis JW, Looijenga LH: Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY. Hum Pathol. 2005, 36: 512-521. 10.1016/j.humpath.2005.02.016.
Article
CAS
PubMed
Google Scholar
Lau YF: Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. Am J Hum Genet. 1999, 64: 921-927. 10.1086/302353.
Article
CAS
PubMed
PubMed Central
Google Scholar
Braun A, Kammerer S, Cleve H, Löhrs U, Schwarz HP, Kuhnle U: True hermaphroditism in a 46, XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex determining locus (SRY): molecular genetics and histological findings in a sporadic case. Am J Hum Genet. 1993, 52: 578-85.
CAS
PubMed
PubMed Central
Google Scholar
Cools M, Drop SL, Wolffenbuttel KP, Oosterhuis JW, Looijenga LH: Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers. Endocr Rev. 2006, 27: 468-84. 10.1210/er.2006-0005.
Article
CAS
PubMed
Google Scholar