Sex determination and the Y chromosome

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 89, Issue 4, 1999, Pages 176-185

  McElreavey, Ken ^a   Fellous, Marc ^b  

^a INSTITUT PASTEUR   (France)

^b NONE

Author keywords

46,XX male; DAX 1; Gonadal dysgenesis; Gonadogenesis; Sex determination; SF 1; SOX9; WT1; Y chromosome

Indexed keywords

ZINC FINGER PROTEIN;

DNA FLANKING REGION; GENE EXPRESSION REGULATION; GENE TARGETING; GENETIC POLYMORPHISM; GONADAL DYSGENESIS; HERMAPHRODITISM; OPEN READING FRAME; PRIORITY JOURNAL; PROMOTER REGION; REVIEW; SEX DETERMINATION; SEX TRANSFORMATION; SIGNAL TRANSDUCTION; VIRILIZATION; X CHROMOSOME; Y CHROMOSOME;

ANIMALS; DNA-BINDING PROTEINS; DROSOPHILA PROTEINS; FEMALE; FUSHI TARAZU TRANSCRIPTION FACTORS; GONADAL DYSGENESIS, 46,XY; HIGH MOBILITY GROUP PROTEINS; HOMEODOMAIN PROTEINS; HUMANS; MALE; MICE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS; SEX DETERMINATION (GENETICS); SEX REVERSAL, GONADAL; TESTIS; TRANSCRIPTION FACTORS; WT1 PROTEINS; Y CHROMOSOME;

EID: 0033616220     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B     Document Type: Review

References (108)

1. Achermann JC, Ito M, Ito M, Hindmarsh PC, Jameson JL. 1999. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 22:125-126.
2. Affara NA, Chalmers IJ, Ferguson-Smith MA. 1993. Analysis of the SRY gene in 22 sex-reversed XY females identifies tour new point mutations in the conserved DNA binding domain. Hum Mol Genet 2:785-789.
3. Aleck KA, Argueso L, Stone J, Hackel JG, Erickson RP. 1999. True hermaphroditism with partial duplication of chromosome 22 and without SRY. Am J Med Genet 85:2-4.
4. Anderson M, Page DC, de la Chapelle A. 1986. Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males. Science 233:786-788.
5. Barbara PS, Moniot B, Poulat F, Boizet B, Berta P. 1998. Steroidogenic factor-1 regulates transcription of the human anti-müllerian hormone receptor. J Biol Chem 273: 29654-29660.
6. Barbaux S, Niaudet P, Gubler MC, Grunfeld JP, Jaubert F, Kuttenn F, Fekete CN, Souleyreau-Therville N, Thibaud E, Fellons M, McElreavey K. 1997. Donor splice-site mutations in WT1 are responsible tor Frasier syndrome. Nat Genet 17:467-470.
7. Bardoni B, Zanarai E, Guioli S, Floridia G, Worley K, Tonini G, Ferrante E, Chiumello G, McCabe ERB, Fraccaro M, Zuffardi O, Camerino G. 1994. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 7:497-501.
8. Berkovitz GD. 1992. Abnormalities of gonad determination and differentiation. Semin Perinatol 16:289-298.
9. Berkovitz GD, Fechner PY, Marcantonio SM, Bland G, Stetten G, Goodfellow PN, Smith KD, Migeon CJ. 1992. The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism. Hum Genet 88:411-416.
10. Botquin V, Hess H, Fuhrmann G, Anastassiadis C, Gross MK, Vriend G, Schöler HR. 1998. New POU dimer configuration mediates antagonistic control of an osteopontin preimplantation enhancer by Oct-4 and Sox-2. Genes Dev 12:2073-2090.
11. Bowles J, Cooper L, Berkman J, Koopman P. 1999. Sry requires a CAG repeat domain for male sex determination in Mus musculus. Nat Genet 22:405-408.
12. Braun A, Kammerer S, Cleve H, Lohrs U, Schwarz HP, Kuhnle U. 1993. 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 52:578-585.
13. Brown S, Yu C, Lanzano P, Heller D, Thomas L, Warburton D, Kitajewski J, Stadtmauer LA. 1998. De novo mutation (Gln2Stop) at the 5′ end of the SRY gene leads to sex reversal with partial ovarian function Am J Hum Genet 62:189-192.
14. Burgoyne PS, Buehr M, Koopman P, Rossant J, McLaren A. 1988. Cell-autonomous action ot the testis-determining gene: Sertoli cells are exclusively XY in XX↔XY chimaeric mouse testes. Development 102:443-450.
15. Cameron F, Sinclair AH. 1997. Mutations in SRY and SOX9: testis-determining genes. Hum Mutat 9:388-395.
16. Clépet C, Schafer AJ, Sinclair AH, Palmer MS, Lovell-Badge R, Goodfellow PN. 1993. The human SRY transcript. Hum Mol Genet 2:2007-2012.
17. Cooke CT, Mulcahy MT, Cullity GJ, Watson M, Sprague P. 1985. Campomelic dysplasia with sex reversal: morphological and cytogenetic studies of a case. Pathology 17:526-529.
18. Crawford PA, Dorn C, Sadovsky Y, Milbrandt J. 1998. Nuclear receptor DAX-1 recruits nuclear receptor corepressor N-CoR to steroidogenic factor 1. Mol Cell Biol 18:2949-2956.
19. Crawford PA, Polish JA, Ganpule G, Sadovsky Y. 1997. The activation function-2 hexamer of steroidogenic factor-1 is required, but not sufficient for potentiation by SRC-1. Mol Endocrinol 11:1626-1635.
20. Davies R, Moore A, Schedl A, Bratt E, Miyahawa K, Ladomery M, Miles C, Menke A, van Heyningen V, Hastie N. 1999. Multiple roles tor the Wilm's tumor suppressor, WT1. Cancer Res 59(supp):1747s-1750s.
21. Demmer L, Primack W, Loik V, Brown R, Therville N, McElreavey K. 1999. Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female. J Am Soc Nephrol 10:2215-2218.
22. De Santa Barbara P, Bonneaud N, Boizet B, Desclozeaux M, Moniot B, Sudbeck P, Scherer G, Poulat F, Berta P. 1998. Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene. Mol Cell Biol 18:6653-6665.
23. Domenice S, Yumie Nishi M, Correia Billerbeck AE, Latronico AC, Aparecida Medeiros M, Russell AJ, Vass K, Marino Carvalho F, Costa Frade EM, Prado Arnhold IJ, Bilharinho Mendonca B. 1998. A novel missense mutation (S18N) in the 5′ non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives. Hum Genet 102:213-215.
24. Dork T, Stuhrmann M, Miller K, Schmidtke J. 1998. Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis. Hum Mutat 11:90-91.
25. Eicher EM, Washburn LL. 1986. Genetic control of primary sex determination in mice. Ann Rev Genet 20:327-360.
26. Eicher EM, Washburn LL, Schork NJ, Lee BK, Shown EP, Xu X, Dredge RD, Pringle M, Page DC. 1996. Sex-determining genes on mouse autosomes identified by linkage analysis of C57BL/6J-YPOS sex reversal. Nat Genet 14:206-209.
27. Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, Brook JD, Schafer AJ. 1994. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372:525-530.
28. Gessler M, Poustka A, Cavenee W, Neve RL, Orkin SH, Bruns GA. 1990. Homozygous deletions in Wilms' tumours of a zinc-finger gene identified by chromosome jumping. Nature 343:774-778.
29. Giese K, Cox J, Grosschedl R. 1992. The HMG domain of lymphoid enhancer factor 1 bends DNA and facilities assembly of functional nucleoprotein structures. Cell 69: 185-195.
30. Giuili G, Shen W-H, Ingraham H. 1997. The nuclear receptor SF-1 mediates dimorphic expression of Müllerian inhibiting substance, in vivo. Development 124:1799-1807.
31. Goodfellow PN, Camerino G. 1999. DAX-1, an "antitestis" gene. Cell Mol Life Sci 55:857-863.
32. Hacker A, Capel B, Goodfellow P, Lovell-Badge R. 1995. Expression of Sry, the mouse sex determining gene. Development 121:1603-1614.
33. Harley VR, Jackson DI, Hextall PJ, Hawkins JR, Berkovitz GS, Sockanathan S, Lovell-Badge R, Goodfellow PN. 1992. DNA binding activity of recombinant SRY from normal males and XY females. Science 255: 453-456.
34. Harley VR, Lovell-Badge R, Goodfellow PN. 1994. Definition of a consensus DNA binding site for SRY. Nucleic Acids Res 22: 1500-1501.
35. Hawkins JR, Taylor A, Berta P, Levilliers J, Van der Auwera B, Goodfellow PN. 1992. Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum Genet 88:471-474.
36. Hiort O, Gramss B, Klauber GT. 1995. True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene. J Pediatr 126:1022.
37. Ikeda Y, Shen W-H, Ingraham HA, Parker KL. 1994. Developmental expression of mouse steroidogenic factor 1, an essential regulator ot steroid hydroxylases. Mol Endocrinol 8: 654-662.
38. Ikeda Y, Swam A, Weber TJ, Hentges KE, Zanaria E, Lalli E, Tamai KT, Sassone-Corsi P, Lovell-Badge R, Camerino G, Parker KL. 1996. Steroidogenic factor 1 and Dax 1 co-localise in multiple cell lineages: potential links in endocrine development. Mol Endocrinol 10:1261-1272.
39. Ito M, Yu R, Jameson JL. 1997. DAX-1 inhibits SF-1-mediated transactivation via carboxy-terminal domain that is deleted in adrenal hypoplasia congenita. Mol Cell Biol 17: 1476-1483.
40. Jager RJ, Harley VR, Pfeiffer RA, Goodfellow PN, Scherer G. 1992. A familial mutation in the testis-determining gene SRY shared by both sexes Hum Genet 90:350-355.
41. Jobling MA, Bouzekri N, Taylor PG. 1998a. Hypervariable digital DNA codes for human paternal lineages: MVR-PCR at the Y-specific mini-satellite, MSY1 (DYF155S1). Hum Mol Genet 7:643-653.
42. Jobling MA, Williams G, Schiebel K, Pandya A, McElreavey K, Salas L, Rappold GA, Affara NA, Tyler-Smith C. 1998b. A selective difference between human Y-chromosomal DNA haplotypes. Curr Biol 8:1391-1394.
43. Katoh-Fukui Y, Tsuchiya R, Shiroishi T, Nakahara Y, Hashimoto N, Noguchi K, Higashinakagawa T. 1998. Male-to-female sex reversal in M33 mutant mice. Nature 393: 688-692.
44. Kent J, Wheatley SC, Andrews JE, Sinclair AH, Koopman P. 1996. A male-specific role for SOX9 in vertebrate sex determination. Development 122:2813-2822.
45. Koopman P, Münsterberg A, Capel B, Vivian N, Lovell-Badge R. 1990. Expression of a candidate sex-determining gene during mouse testis determination. Nature 348:450-452.
46. Kreidberg JA, Sariola H, Loring JM, Maeda M, Pelletier J, Houssman D, Jaenisch R. 1993. WT-1 is required for early kidney development. Cell 74:679-691.
47. Kuhlbrodt K, Herbarth B, Sock E, Enderich J, Hermans-Borgmeyer I, Wegner M. 1998. Cooperative function of POU proteins and SOX proteins in glial cells. J Biol Chem 273:16050-16057.
48. Lala DS, Rice DA, Parker KL. 1992. Steroidogenic factor 1, a key regulator of steroidogenic enzyme expression, is the mouse homologue of fushi tarazu-factor 1. Mol Endocrinol 6:1249-1258.
49. Lalli E, Melner MH, Stocco DM, Sassone-Corsi P. 1998. DAX-1 blocks steroid production at multiple levels. Endocrinology 139: 4237-4243.
50. Lau YF, Zhang J. 1998. Sry interactive proteins: implication for the mechanisms of sex determination. Cytogenet Cell Genet 80:128-132.
51. Leger H, Sock E, Renner K, Grummt F, Wegner M. 1995. Functional interaction between the POU domain protein Tst-1/Oct-6 and the high-mobility-group protein HMG-I/ Y. Mol Cell Biol 15:3738-3747.
52. Luo X, Ikeda Y, Parker KL. 1994. A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 77:481-490.
53. Ma Y, Niemitz EL, Nambu PA, Shan X, Sackerson C., Fujioka M, Goto T, Nambu JR. 1998. Gene regulatory functions of Drosophila fish-hook, a high mobility group domain Sox protein. Mech Dev 73:169-182.
54. Magre S, Jost A. 1991. Sertoli cells and testicular differentiation in the rat fetus. J Electron Microsc Tech 19:172-188.
55. McElreavey K, Rappaport R, Vilain E, Abbas N, Richaud F, Lortat-Jacob S, Berger R, Le Coniat M, Boucekkine C, Kucheria K, Temtami S, Niboul-Fekete N, Brauner R, Fellous M. 1992. A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY. Hum Genet 90: 121-125.
56. McElreavey K, Vilain E, Abbas N, Herskowitz I, Fellous M. 1993. A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. Proc Natl Acad Sci USA 90: 3368-3372.
57. McElreavey K, Vilain E, Barbaux S, Fuqua JS, Fechner PY, Souleyreau N, Doco-Fenzy M, Gabriel R, Quereux C, Fellous M, Berkovitz GD. 1996. Loss of sequences 3′ to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination. Proc Natl Acad Sci USA 93:8590-8594.
58. Miyamoto N, Yoshida M, Kuratani S, Matsuo I, Aizawa XX. 1997. Defects of urogenital development in mice lacking Emx2. Development 124:1653-1664.
59. Morais da Silva S, Hacker A, Harley V, Goodfellow P, Swain A, Lovell-Badge R. 1996. Sox9 expression during gonadal development implies a conserved role tor the gene in testis differentiation in mammals and birds. Nat Genet 14:62-68.
60. Morohashi K, Honda S, Inomata Y, Handa H, Omura T. 1992. A common trans-acting factor, Ad4-binding protein, to the promoters of steroidogenic P-450s. J Biol Chem 267:17913-17919.
61. Muscatelli F, Strom TM, Walker AP, Zanaria E, Récans D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabi W, Schwarz HP, Kaplans J-C, Camerino G, Meitinger T, Monaco AP. 1994. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. Nature 372:672-676.
62. Nachtigal MW, Hirokawa Y, Enyeart-VanHouten DL, Flanagan JN, Hammer GD, Ingraham HA. 1998. Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression. Cell 93:445-454.
63. Nasrin N, Buggs C, Kong XF, Carnazza J, Goebl M, Alexander-Bridges M. 1991. DNA-binding properties of the product of the testis-determining gene and a related protein. Nature 354:317-320.
64. Nef S, Parada LF. 1999. Cryptorchidism in mice mutant for Insl3. Nat Genet 22:295-299.
65. Ng L-J, Wheatley S, Muscat GEO, Conway-Campbell J, Bowles J, Wright E, Bell DM, Tam PPL, Cheah KSE, Koopman P. 1997. SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse. Dev Biol 183:108-121.
66. Palmer SJ, Burgoyne PS. 1991. In-situ analysis of fetal, prepubertal and adult XX↔XY chimaeric mouse testes: Sertoli cells are predominantly, but not exclusively, XY. Development 112:265-268.
67. Parker KL. 1998. The roles of steroidogenic factor 1 in endocrine development and function. Mol Cell Endocrinol 145:15-20.
68. Parker KL, Schimmer BP. 1997. Steroidogenic factor 1: a key determinant of endocrine development and function. Endocr Rev 18: 361-377.
69. Patek CE, Kerr JB, Gosden RG, Jones KW, Hardy K, Muggleton-Harris AL, Handyside AH, Whittingham DG, Hooper ML. 1991. Sex chimerism, fertility and sex determination in the mouse. Development 113:311-325.
70. Pellegrini M, Mansouri A, Simeone A, Boncinelli E, Gruss P. 1996. Dentate gyrus formation requires Emx2. Development 122:3893-3898.
71. Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Stiegel JE, Houghton DC, Junien C, Habib R, Fouser L, Fine RN, Silverman BL, Haber DA, Housman D. 1991a. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67:437-447.
72. Pelletier J, Schalling M, Buckler A, Rogers A, Haber DA, Housman D. 1991b. Expression of the Wilms' tumor gene wt-1 in the murine urogenital system. Genes Dev 5:1345-1356.
73. Pontiggia A, Rimini R, Harley VR, Goodfellow PN, Lovell-Badge R, Bianchi ME. 1994. Sex-reversing mutations affect the architecture of SRY-DNA complexes. EMBO J 13:6115-6124.
74. Poulat F, Barbara PS, Desclozeaux M, Soullier S, Moniot B, Bonneaud N, Boizet B, Berta P. 1997. The human testis determining factor SRY hinds a nuclear factor containing PDZ protein interaction domains. J Biol Chem 272:7167-7172.
75. Rappold GA. 1993. The pseudoautosomal regions of the human sex chromosomes. Hum Genet 92:315-324.
76. Rossi P, Dolci S, Albanesi C, Grimaldi P, Geremia R. 1993. Direct evidence that the mouse sex-determining gene Sry is expressed in the somatic cells of male fetal gonads and in the germ line in the adult testis. Mol Reprod Dev 34:369-373.
77. Ryan AK, Rosenfeld MG. 1997. POU domain family values: flexibility, partnerships, and developmental codes. Genes Dev 11:1207-1225.
78. Salas-Cortes L, Jaubert F, Barbaux S, Nessmann C, Bono MR, Fellous M, McElreavey K, Rosemblatt M. 1999. The human SRY protein is present in fetal and adult Sertoli cells and germ cells. Int J Dev Biol 43:135-140.
79. Sandhoff TW, McLean MP. 1999. Repression of the rat steroidogenic acute regulatory (StAR) protein gene by PGF2alpha is modulated by the negative transcription factor DAX-1. Endocrine 10:83-91.
80. Scharnhorst V, Dekker P, van der Eb AJ, Jochemsen AG. 1999. Internal translation initiation generates novel WT1 protein isoforms with distinct biological properties. J Biol Chem 274:23456-23462.
81. Scherer G, Held M, Erdel M, Meschede D, Horst J, Lesniewicz R, Midro AT. 1998. Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations. Cytogenet Cell Genet 80:188-192.
82. Schiebel K, Winkelmann M, Mertz A, Xu X, Page DC, Weil D, Petit C, Rappold GA. 1997. Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+) XX males and (Y-) XY females. Hum Mol Genet 6:1985-1989.
83. Schmitt-Ney M, Thiele H, Kaltwasser P, Bardoni B, Cisternino M, Scherer G. 1995. Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers. Am J Hum Genet 56: 862-869.
84. Shen W-H, Moore CCD, Ikeda Y, Parker KL, Ingraham HA. 1994. Nuclear receptor steroidogenic factor 1 regulates the Müllerian inhibiting substance gene: a link to the sex determination cascade. Cell 77:651-661.
85. Shinka T, Tomita K, Toda T, Kotliarova SE, Lee J, Kuroki Y, Jin DK, Tokunaga K, Nakamura H, Nakahori Y. 1999. Genetic variations on the Y chromosome in the Japanese population and implications tor modern human Y chromosome lineage. J Hum Genet 44:240-245.
86. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf A-M, Lovell-Badge K, Goodfellow PN. 1990. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240-244.
87. Slavotinek A, Schwarz C, Getty JF, Stecko O, Goodman F, Kingston H. 1999. Two cases with interstitial deletions of chromosome 2 and sex reversal in one. Am J Med Genet 86:75-81.
88. Smith CA, Sinclair AH. 1999. The cell biology and molecular genetics of sex determination. In: McElreavey K, editor. The genetic basis of male infertility. Heidelberg: Springer. p 23-52.
89. Soriano NS, Russell S. 1998. The Drosophila SOX-domain protein Dichaete is required for the development of the central nervous system midline. Development 125:3989-3996.
90. Sudbeck P, Scherer G. 1997. Two independent nuclear localization signals are present in the DNA-binding high-mobility group domains of SRY and SOX9. J Biol Chem 272: 27848-27852.
91. Swain A, Lovell-Badge R. 1999. Mammalian sex determination: a molecular drama. Genes Dev 13:755-767.
92. Swain A, Zanaria E, Hacker A, Lovell-Badge R, Camerino G. 1996. Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Nat Genet 12:404-409.
93. Swain A, Narvaez V, Burgoyne P, Camerino G, Lovell-Badge R. 1998. Dax1 antagonizes Sry action in mammalian sox determination. Nature 391:761-767.
94. Tar A, Solyom J, Gyorvari B, Ion A, Telvi L, Barbaux S, Souleyreau N, Vilain E, Fellous M, McElreavey K. 1995. Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion. Hum Genet 96:464-468.
95. Tremblay JJ, Viger RS. 1999. Transcription factor GATA-4 enhances Müllerian inhibiting substance gene transcription through a direct interaction with SF-1. Mol Endocrinol. 13:1388-1401.
96. Veenstra GJ, van der Vliet PC, Destree OH. 1997. POU domain transcription factors in embryonic development. Mol Biol Rep 24: 139-155.
97. Veitia R, Ion A, Barbaux S, Jobling MA, Souleyreau N, Ennis K, Ostrer H, Tosi M, Meo T, Chibani J, Fellous M, McElreavey K. 1997. Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. Hum Genet 99:648-652.
98. Veitia R, Nunes M, Rapport R, Thibaud E, Jaubert F, Fellous M, McElreavey K, Goncalves J, Silva M, Rodrigues J, Caspurro M, Boieiro F, Marques R, Livinha J. 1998. Sywers syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions and the absence of monosomy 9p syndrome. Am J Hum Genet 63:901-904.
99. Vilain E, McElreavey K, Jaubert F, Raymond JP, Richaud F, Fellous M. 1992. Familial case with sequence variant in the testis-determining region associated with two sox phenotypes. Am J Hum Genet 50:1008-1011.
100. Waggoner DJ, Chow CK, Dowton SB, Watson MS. 1999. Partial nionosomy of distal 10q: three new cases and a review. Am J Med Genet 86:1-5.
101. Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer JJP, Bricarelli FD, Keutal J, Hustert F, Wolf U, Tommerup N, Schempp W, Scherer G. 1994. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 79:1111-1120.
102. Werner MH, Bianchi ME, Gronenborn AM, Clore GM. 1995. NMR spectroscopic analysis of the DNA conformation induced by the human testis determining factor SRY. Biochemistry 34:11998-12004.
103. Wong M, Ramayya MS, Chrousos GP, Driggers PH, Parker KL. 1996. Cloning and sequence analysis of the human gene encoding steroidogenic factor 1. J Mol Endocrinol 17:139-147.
104. Yoshida M, Suda Y, Matsuo I, Miyamoto N, Takeda N, Kuratani S, Aizawa S. 1997. Emx1 and Emx2 functions in development of dorsal telencephalon. Development 124: 101-111.
105. Yu RN, Ito M, Saunders TL, Camper SA, Jameson JL. 1998. Role of Ahch in gonadal development and gametogenesis. Nat Genet 20:353-357.
106. Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Guo W, Lalli E, Moser C, Walker AP, McCabe RRB, Meitinger T, Monaco AP, Sassone-Corsi P, Camerino G. 1994. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 372:635-641.
107. Zhang J, Coward P, Xian M, Lau YF. 1999. In vitro binding and expression studies demonstrate a role for the mouse Sry Q-rich domain in sex determination. Int J Dev Biol 43:219-227.
108. Zimmermann S, Schwarzler A, Buth S, Engel W, Adham IM. 1998. Transcription of the Leydig insulin-like gene is mediated by steroidogenic factor-1. Mol Endocrinol 12: 706-713.