Mechanism of sex determination in mammals

Advances in Genome Biology

Volumn 4, Issue C, 1996, Pages 305-354

  McElreavey, Ken ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

EID: 0001173641     PISSN: 10675701     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S1067-5701(96)80012-X     Document Type: Article

References (198)

1. Parkhurst S.M., and Meneely P.M. Sex determination and dosage compensation: Lessons from flies and worms. Science 264 (1994) 924-932
2. Hogkin J. Sex determination compared in Drosophila and Caenorhabditis. Nature 344 (1990) 721-728
3. Bridges C.B. Sex in relation to chromosomes and genes. Am Nat 59 (1925) 127-137
4. Müller H.J., and Zimmering S. A sex-linked lethal without evident effect in Drosophila males, but partially dominant in females. Genetics 8 (1960) 41-59
5. Cline T.W. Two closely linked mutations in Drosophila melanogaster that are lethal to opposite sexes and interact with daughterless. Genetics 90 (1978) 683-698
6. Cline T.W. Autoregulatory functioning of a Drosophila gene product that establishes and maintains the sexually determined state. Genetics 107 (1984) 231-277
7. Bell L., Maine E., Schedl P., and Cline T. Sex-lethal, a Drosophila sex determining switch gene, exhibits sex-specific RNA splicing and sequence sensitivity to RNA binding protens. Cell 55 (1988) 1037-1046
8. Erickson J., and Cline T. A bZIP, Sisterless-a collaborates with bHLH transcription factors early in Drosophila development to determine sex. Genes Dev. 7 (1993) 1688-1702
9. Cline T.W. Evidence that 'sisterless-a' and 'sisterless-b' are two of several discrete 'numerator elements' of the X:A sex determination signal in Drosophila that switch sex-lethal between two alternative stable expression states. Genetics 119 (1988) 829-862
10. Duffy J.B., and Gergen J.P. The Drosophila segmentation gene runt acts as a position-specific numerator element necessary for the uniform expression of the sex determination gene sexlethal. Genes Dev 5 (1991) 2176-2187
11. Torres M., and Sanchez L. The sisterless-b function of the Drosophila gene scute is restricted to the stage when the X: A ratio determines the activity of sex-lethal. Genet Res 59 (1992) 189-198
12. Caudy M., Vässin H., Brand M., Tuma R., Jan L.Y., and Jan Y.N. Daughterless, a Drosophila gene essential for both neurogenesis and sex determination, has sequence similiarity to myc and the achaeta-scute complex. Cell 55 (1988) 1061-1067
13. Bell A.E. A gene in Drosophila melanogaster that produces all male progeny. Genetics 39 (1954) 958-959
14. Keyes L.N., Cline T.W., and Schedl P. The primary sex determining signal of Drosophila acts at the level of transcription. Cell 68 (1992) 933-943
15. Bell L., Horabin J., Schedl P., and Cline T. Positive autoregulation of sex lethal by alternative splicing maintains the female determined state in Drosophia. Cell 65 (1991) 229-240
16. Younger-Sheperd S., Vaessin H., Bier E., Yeg-Jan L., and Jan Y.N. Deadpan, an essential pan-neural gene encoding an HLH proten, acts as a denominator in Drosophila sex determination. Cell 70 (1992) 911-922
17. Valcarel J., Singh R., Zamore P., and Green M. The protein sex-lethal antagonizes the splicing factor U2AF to regulate alternative splicing of transformer Pre-mRNA. Nature 362 (1993) 171-175
18. Hildreth P.E. Doublesex, a recessive gene that transforms boths males and females of Drosophila into intersexes. Genetics 51 (1965) 659-678
19. Burtis K.C., Coschigano K.T., Baker B.S., and Wensink P.C. The doublesex proteins of Drosophila melanogaster bind directly to a sex-specific yolk protein gene enhancer. EMBO 10 (1991) 2577-2582
20. Erdman S.E., and Burtis K.C. The Drosophila doublesex proteins share a novel zinc finger related DNA-binding domain. EMBO J. 12 (1993) 527-535
21. Miller L.M., Plenefisch J.D., Casson L.P., and Meyer B.K. Xol-1: A gene that controls the male modes of both sex determination and dosage compensation in C. elegans. Cell 55 (1988) 167-183
22. Villeneuve A.M., and Meyers B.J. Sdc-1: A link between sex determination and dosage compensation in C. elegans. Cell 48 (1987) 25-37
23. Nusbaum C., and Meyer B.J. The Caenorhabditis elegans gene sdc-2 controls sex determination and dosage compensation in XX animals. Genetics 122 (1989) 579-593
24. Klein R.D., and Meyer B.J. Independent domains of the Sdc-3 protein control sex determination and dosage compensation in C. elegans. Cell 72 (1993) 349-364
25. Delong L.D., Plenefisch J.D., Klein R.D., and Meyer B.J. Feedback control of sex determination by dosage compensation revealed through C. elegans sdc-3 mutations. Genetics 133 (1993) 875-896
26. Trent C., Purnell B., Gavinski S., Hageman J., Chamblin C., and Wood W.W. Sex-specific transcriptional regulation of the C elegans sex-determining gene her-1. Mech Dev 34 (1991) 43-56
27. Nonet M.L., and Meyer B.J. Early aspects of the Caenorhabditis elegans sex determination and dosage compensation are regulated by a zinc finger protein. Nature 351 (1991) 65-68
28. Perry M.D., Li W., Trent C., Robertson B., Fire A., Hageman J.M., and Wood W.B. Molecular characterisation of the her-1 gene suggests a direct role in cell signaling during Caenorhabditis elegans sex determination. Genes Dev 7 (1993) 216-228
29. Kumabara P.E., Okkema P.G., and Kimble J. Tra-2 encodes a membrane protein and may mediate cell communication in Caenorhabditis elegans sex determining pathways. Mol Bio Cell. 3 (1992) 461-473
30. Hunter C.P., and Wood W.B. Cell interactions in C. elegans sex determination: genetic evidence from mosaic analysis of the masculinizing gene her-1. Nature 355 (1992) 551-555
31. Ahringer J., Rosenquist T.A., Lawson D.N., and Kimble J. The Caenorhabditis elegans sexdetermining gene fem-3 is regulated post-transcriptionally. EMBOJ. 11 (1992) 2303-2310
32. Hodgkin J.A. Two types of sex determination in the nematode. Nature London 304 (1983) 267-268
33. Epper F., and Bryant P. Sex specific control of growth and differentiation in the Drosophila genital disc studied using a temperature-sensitive transformer-2 mutant. Dev Biol. 100 (1983) 294-307
34. Villeneuve A.M., and Meyer B.J. The regulatory hierarchy controlling sex determination and dosage compensation in Caenorhabditis elegans. Adv Genet. 27 (1990) 117-188
35. Lucchesi J.C., and Manning J.E. Gene dosage compensation in Drosophila melanogaster. Adv. Genet. 24 (1987) 371-429
36. Steinmann-Zwicky M. Sex determination of Drosophila germ cells. Semin Dev Biol 3 (1992) 341-347
37. Clifford R., Francis R., and Schedl T. Somatic control of germ cell development in Caenorhabditis elegans. Semin Dev Biol 5 (1994) 21-30
38. McLaren A. Germ cell sex determination. Sem Dev Biol. 4 (1993) 171-177
39. Zamboni L., and Upadhyay S. Germ cell differentiation in mouse adrenal glands. J Exp Zool 228 (1983) 178-193
40. Poirie M., Périquet G., and Beukeboom L. The hymenopteran way of determining sex. Sem Dev Biol 3 (1992) 357-361
41. Whiting P.W. Sex determination and reproductive economy in Habrobracon. Genetics 24 (1939) 110-111
42. Whiting P.W. Multiple alleles in complementary sex determination of Habrobracon. Genetics 28 (1943) 365-382
43. Periquet G., Hedderwick M.P., Agoze M., and Piorie M. Sex determination in the Hypmenoptera Diadromus pulchellus (Ichneumonidae); Validation of the one-locus multiallele model. Heredity 70 (1993) 420-427
44. Parker L., and Owen R.E. Allozyme variation, linkage disequilibrium and diploid male production of a primitively social bee. Augochlorella striata (Hymenoptera; Halictidae. Heredity 65 (1990) 241-248
45. Naito T., and Suzuki H. Sex determination in the sawfly Athalia rosae ruficornis: Occurance of triploid males. J Heretidy 82 (1991) 101-104
46. Snell G.D. The determination of sex in Habrobracon. Proc Natl Acad Sci USA 21 (1935) 446-453
47. Crozier R.H. Heterozygosity and sex determination in haplodiploidy. Am Nat. 105 (1971) 399-412
48. Cook J.M. Empirical tests of sex determination in Goniozus nephantidis (Hymenoptera: Bethylidae). Heredity 71 (1993) 130-137
49. Cunha A.B., and Kerr W.E. A genetical theory to explain sex determination by arrhenotokous parthenogenesis. Forma et Functio 1 (1957) 33-36
50. Kerr W.E. Sex determination in bees III. Caste determination and genetic control in Melipona. Insectes Soc. 21 (1974) 357-367
51. Chaud-Netto J. Sex determination in bees: additivity of maleness genes in Apis mellifera. Genetics 79 (1975) 379-382
52. Slobodchikoff C.N., and Daly H.V. Systematic and evolutionary implications of parthenogenesis in the Hymenoptera. Am Zool 11 (1971) 273-282
53. Crozier R.H. Heterozygosity and sex determination in haplodiploidy. Am Nat. 105 (1977) 399-412
54. Luck R., Stouthamer R., and Nunney L.E. Sex determination and sex ratio patterns in parasitic Hymenoptera. In: Wrensch D.L., and Ebbert M.A. (Eds). Evolution and Diversity of Sex Ratios in Haplodiploid Insects and Mites (1992), Chapman and Hall, Englewood, Cliffs, NJ
55. Stouthamer R., Luck R.F., and Hamilton W.D. Antibiotics cause parthenogenetic Trichogramma (Hymenoptera/Trichogrammatidae) to revert to sex. Proc Natl Acad Sci USA 87 (1990) 2424-2427
56. O'Neill S.L., Giordano R., Colbert A.M.E., Karr T.L., and Robertson H.M. 16S rRNA phylogenetic analysis of the bacterial emdosymbionts associated with cytoplasmic incompatibility in insects. Proc Natl Acad Sci USA 89 (1992) 2699-2702
57. Stouthamer R., Breeuwer J.A.J., Luck F.R., and Werren J.H. Molecular identification of microorganisms associated with parthenogenesis. Nature 361 (1993) 66-68
58. Stouthamer R., Breeuwer J.A.J., Luck F.R., and Werren J.H. Molecular identification of microorganisms associated with parthenogenesis. Nature 361 (1993) 66-68
59. Russell W.L., Russell L.B., and Gower J.S. Exceptional inheritance of a sex-linked gene in the mouse explained on the basis that the X/O sex-chromosome constitution is female. Proc Natl Acad Sci USA 45 (1959) 554-560
60. Cattanach B.M. XO mice. Genet Res. 3 (1962) 487
61. Ford C.E., Jones K.W., Polani P.E., de Almeida J.C., and Briggs J.H. A sex chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet (1959) 711-713
62. Jacobs P.A., and Strong J.A. A case of human intersexuality having a possible XXY sexdetermining mechanism. Nature 183 (1959) 302-303
63. Cattanach B.M. XXY mice. Genet Res. 2 (1961) 156-158
64. Jost A., Vigier B., Prépin J., and Perchellett J.P. Studies of sex differentiation inn mammals. Recent Prog Horm Res. 29 (1973) 1-41
65. Josso N. Physiology of sex differentiation. A guide to the understanding and management of the intersex child. In: Josso N. (Ed). The Intersex Child (1981), Karger, Basel 1-13
66. Sinclair A.H., Berta P., Palmer M.S., Hawkins J.R., Griffiths B.L., Smith M.J., Foster J.W., Frischauf A.-M., Lovell-Badge R., and Goodfellow P.N. A gene from the human sex determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 34 (1990) 240-245
67. Vilain E., Fellous M., and McElreavey K. Characterisation and sequence of the 5′ flanking region of the human testis-determining factor, SRY. Methods Mol Cell Biol. 3 (1992) 129-134
68. Su H., and Lau C.Y.-F. Identification of the transcriptional unit, structural organisation and promoter sequence of the human sex determining region Y (SRY) gene, using a reverse genetic approach. Am J Hum Genet. 52 (1993) 24-38
69. Behlke M.A., Bogan J.S., Beer-Romero P., and Page D.C. Evidence that SRY protein is encoded by a single exon on the human Y chromosome. Genomics 17 (1993) 736-739
70. Clépet C., Schafer A.J., Sinclair A.H., Palmer M.S., Lovell-Badge R., and Goodfellow P.N. The human SRY transcript. Hum Mol Genet 2 (1993) 2007-2012
71. Kelly M., Burke J., Smith M., Llar A., and Beach D. Four mating-type genes control sexual differentiation in the fission yeast. EMBO J. 7 (1988) 1537-1547
72. Wright J.M., and Dixon G.H. Induction by torsional stress of an altered DNA conformation 5'upstream of the gene for a high mobility group protein from trout and specific binding to flanking sequences by the gene product HMG-T. Biochemistry 27 (1988) 576-581
73. Grosschedl R., Giese K., and Pagel J. HMG domain proteins: architectural elements in the assembly of nucleoprotein structures. Trends Genet. 10 (1994) 94-100
74. Bustin M., Lehn D.A., and Landsman D. Structural features of the HMG chromosomal proteins and their genes. Biochim Biophys Acta 1049 (1990) 231-243
75. Lilly D.M.J. DNA-protein interactions: HMG has DNA wrapped up. Nature 357 (1992) 282-283
76. Denny P., Swift S., Brand N., Dabhade N., Barton P., and Ashworth A. A conserved family of genes related to the testis determining genes, SRY. Nucleic Acid Res. 20 (1992) 2887
77. Castrop J., van Norren K., and Clevers H.S. A gene family of HMG-box transcription factors with similarity to TCF-1. Nucleic Acid Res. 20 (1992) 611
78. Weir H.M., Kraulis P.J., Hills C.S., Raine A.R.C., Laue E.D., and Thomas J.P. Structure of the HMG box motif in the B-domain of HMG1. EMBO J. 12 (1993) 1311-1319
79. Jantzen H.-M., Admon A., Bell S.P., and Tjian R. Nucleolar transcription factor hUBF contains a DNA-binding motif with similiarty to HMG proteins. Nature 344 (1990) 830-836
80. McStay B., Frazier M.W., and Reeder R.H. xUBF contains a novel dimerization domain essential for RNA polymerase I transcription. Genes Dev. 5 (1991) 1957-1968
81. Leblanc B., Read C., and Moss T. Recognition of the Xenopus ribosomal core promoter by the transcription factor XUBF involves multiple HMG box domains and leads to an xUBF interdomain interaction. EMBO J. 2 (1993) 513-515
82. Harley V.R., Jackson D.I., Hextall P.J., Hawkins J.R., Berkovitz G.D., Sockanathan S., Lovell-Badge R., and Goodfellow P.N. DNA-binding activity of recombinant SRY from normal males and XY females. Science 255 (1992) 453-455
83. Nasrin N., Buggs C., Kong X.F., Carnazza J., Goebl M., and Alexander-Bridges M. DNA-binding properties of the product of the testis-determining gene and a related product. Nature (London) 354 (1991) 317-320
84. Giese K., Cox J., and Grosschedl R. The HMG domain of the lymphoid enhancer factor 1 bends DNA and facilitates assembly of functional nucleoprotein structures. Cell 69 (1992) 185-195
85. Giese K., Pagel J., and Grosschedl R. Distict DNA-binding properties of the high mobility group domain of murine and human SRY sex-determining factors. Proc Natl Acad Sci USA 91 (1994) 3368-3372
86. Ferrari S., Harley V.R., Pontiggia A., Goodfellow P.N., Lowell-Badge R., and Bianchi M.E. SRY like HMG1 recognises sharp angles in DNA. EMBO J 11 (1992) 4497-4506
87. Bianchi M.E., Falciola L., Simona F., and Lilley D.M.J. The DNA-binding site of HMG1 protein is composed of two similar segements (HMG boxes) both of which have counterparts in other eukaryotic regulatory proteins. EMBO J. 11 (1992) 1055-1063
88. Bruhn S.L., Pil P.M., Essigmann J.M., Housman D.E., and Lippard S.J. Isolation and characterisation of human cDNA clones encoding a High Mobility Group box protein that recognizes structural disortion to DNA caused by binding of the anticancer agent cisplatin. Proc Natl Acad Sci USA 89 (1992) 23307-23311
89. Kuhn A., Voit R., Stefenovsky V., Eves R., Bianchi M., and Grummt I. Functional differences between the two splice variants of the nucleolar transcription factor UBF: The second HMG box determines the specificity of DNA binding and transcription activity. EMBO J. 13 (1994) 416-424
90. Giese K., and Grosschedl R. LEF-1 contains an activation domain that stimulates transcription only in a specific context of factor binding sites. EMBO J. 12 (1993) 466-4676
91. de la Chapelle A. Analytic review: Nature and origin of males with XX sex chromosome. Am Hum Genet. 24 (1972) 71-105
92. Van Niekerk W.A. True hermaphroditism. In: Josso N. (Ed). The intersex child (1981), Karger, Basel 80-99
93. Berkovitz G.D., Fechner P.Y., Zacur H.W., Rock J.A., Snyder H.M., Migeon C.J., and Perlman E.J. Clinic and pathological spectrum of 46, XY gonadal dysgenesis: Its relevance to the understanding of sex differentiation. Medincine 70 (1991) 375-383
94. Berkovitz G.D. Abnormalities of gonad determination and differentiation. Sem Perinat. 16 (1992) 289-298
95. Marcantonio S.M., Fechner P.Y., Migeon C.J., Perlman E.J., and Berkovitz G.D. Embryonic testicular regression sequence: A part of the clinical spectrum of 46, XY gonadal dysgenesis. AM J Med Genet. 49 (1994) 1-5
96. McElreavey K., Vilain E., Abbas N., Costa J.-M., Souleyreau N., Kucheria K., Boucekkine C., Thibaud E., Brauner R., Flamant F., and Fellous M. XY sex reversal associated with a deletion 5′ to the SRY "HMG box" in the testis-determining region. Proc Natl Acad Sci USA 89 (1992) 11016-11020
97. Vilain E., Jaubert F., Fellous M., and McElreavey K. Pathology of 46, XY pure gonadal dyssgenesis: absence of testis differentiation associated with mutations in the testis-determining factor. differentiation 52 (1993) 151-159
98. Berta P., Hawkins J.R., Sinclair A.H., Taylor A., Griffiths B., Goodfellow P.N., and Fellous M. Genetic evidence equating SRY and the testis-determining factor. Nature (London) 348 (1990) 448-450
99. Jager R.J., Anvret M., Hall K., and Scherer G. A human XY female with a frame shift mutation in the candidate testis-determining genes SRY. Nature 348 (1990) 452-454
100. Hawkins J.R., Taylor A., Goodfellow P.N., Migeon C.J., Smith K.D., and Berkovitz G.D. Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. Am J Hum Genet. 51 (1992) 979-984
101. Hawkins J.R., Taylor A., Berta P., Levelliers J., Van der Auwera B., and Goodfellow P.N. Mutational analysis of SRY: Nonsense and missense mutations in XY reversal. Hum Genet. 88 (1992) 471-474
102. Müller J., Schwartz M., and Skakkebaek N.E. Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point mutation in SRY causing sex reversion in a 46, XY female. J Clin Endocrinol Metabol. 75 (1992) 331-333
103. Affara N.A., Chalmes I.J., and Ferguson-Smith A. Analysis of the SRY gene in 22 sex reversed XY females identifies four new point mutations in the conserved DNA-binding domain. Hum Mol Genet. 2 (1993) 785-789
104. Pivnick E.K., Wachtel S., Woods D., Simpson J.L., and Bishop C.E. Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis. Hum Genet (1992) 308-310
105. Tajima T., Nakae J., Shinohara N., and Fujieda K. A novel mutation localized in the 3′ non-HMG box region of SRY gene in 46,XY gonadal dysgenesis. Hum Mol Genet 3 (1994) 1187-1189
106. Sakai T., Ohtani N., McGee T.L., Robbins P.D., and Dryja T.P. Oncogenic germline mutations in Sp1 and ATF sites in the human retinoblastoma gene. Nature (London) 353 (1991) 83-86
107. Vilain E., McElreavey K.D., Jaubert F., Raymond J.P., Richaud F., and Fellous M. Familial case of with sequence variant in the testis-determining region associated with two sex phenotypes. Am J Hum Genet 50 (1992) 1008-1011
108. Jäger R.J., Harley V.R., Pfeiffer R.A., Goodfellow P.N., and Scherer G. A familial mutation in the testis determining gene SRY shared by both sexes. Hum Genet 90 (1992) 350-355
109. Braun A., Kammerer S., Cleve H., Löhrs U., Schwarz H.-P., and 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 52 (1993) 578-585
110. Frazier G.C., Wu Y.-J., Hewitt S.M., Maity TG., Ton C.C.T., Huff V., and Saunders G.F. Transcriptional regulation of the human Wilms' tumor gene (WT1). J. Biol Chem. 269 (1994) 8892-8900
111. POS mice. Development 113 (1991) 709-714
112. Capel B., Rasberry C., Dyson J., Bishop C.E., Simpson E., Vivian N., Lovell-Badge R., Rastan S., and Cattanach B.M. Deletion of Y chromosome sequences outside the testis determining region can cause XY female sex reversal. Natural Genetics 5 (1993) 301-307
113. Page D.C., Mosher R.;d., Simpson E.M., Fisher E.M., Mardon G., Pollack J., McGilivray B., De la Chapelle A., and Brown L.G. The sex determining region of the human Y chromosome encodes a finger protein. Cel 51 (1987) 1091-1104
114. Cook H.J., Fantes J., and Green D. Structure and evolution of the human Y chromosome. Differentiation 23 (1983) S48-S55
115. Burk R.D., Szabo P., O'Brien S., Nash W.G., Yu L., and Smith K.D. Organisation and chromosomal specificity of autosomal homologs of human Y chromosome repeated DNA. Chromosoma 92 (1985) 225-233
116. Smith K.D., Young K.E., Talbot C.C., and Schmeckpeper B.J. Repeated DNA of the human Y chromosome. Development Suppl. 100 (1987) 77-92
117. Vilain E., Le Fiblec B., Morichon-Delvallez N., Brauner R., Dommergues M., Dumex Y., Jaubert F., Boucekkine C., McElreavey K., Vekemans M., and Fellous M. SRY-negative XX fetus with complete male phenotype. Lancet 343 (1994) 240-241
118. Fechner P.Y., Rosenberg C., Stetten G., Cargile C.B., Pearson P.L., Smith K.D., Migeon C.J., and Berkovitz G.D. Nonrandom inactivation of the Y-bearing X chromosome in a 46, XX individual: Evidence for the etiology of 46,XX true hermaphroditism. Cytogenet Cell Genet 66 (1994) 22-26
119. Abbas N., McElreavey K.D., Leconiat M., Vilain E., Jaubert F., Berger R., Nihoul-Fekete C., Rapport R., and Fellous M. Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome. C R Acad Sci. 326 (1993) 375-383
120. Smith D.W., Lemli J., and Opitz J.M. A newly recognized syndrome of multiple congenital anomalies. J Pediat. 64 (1964) 210-217
121. Fukazawa R., Nakahori Y., Kogo T., Kawakami T., Akamatsu H., Tanae A., Hibi I., Nagafuchi S., Nakagome Y., and Hirayama T. Normal Y sequences in Smith-Lemli-Opitz syndrome with total failure of masculinization. Acta Paediatr. 81 (1992) 570-572
122. Houston C.S., Optiz J.M., Spranger J.W., MacPherson R.I., Reed M.H., Gilbert E.F., Herrmann J., and Schinzel A. The campomelic syndrome: Review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al. in 1971. Am J Med Genet 15 (1983) 3-28
123. Schimke R.N. XY sex reversed campomelic-possible X-linked disorder. Clin Genet 16 (1979) 62-63
124. Maraia R., Saal H.M., and Wangsa D. A chromosome 17q de novo paracentric inversion in a patient with compomelic dysplasia: Case report and etiologic hypothesis. Clin GEnet. 39 (1991) 4104-4408
125. Cooke C.T., Mulcahy M.T., Cullity G.J., Watson M., and Srague P. Campomelic dysplasia with sex reversal: Morphological and cytogenetic studies of a case. Pathology 17 (1985) 526-529
126. Young I.D., Zuccollo J.M., Maltby E.L., and Broderick N.J. Campomelic dysplasia associated with a de novo 2q; 17q reciprocal translocation. J Med Genet 29 (1992) 251-252
127. Tommerup N., Schempp W., Meinecke P., Pedersen S., Bolund L., Brandt C., Goodpasture C., Guldberg P., Held K.R., Reinwein H., Saugstad O.D., Scherer G., Skjeldal O., Toder R., Westvik J., van der Hagen C.B., and Wolf U. Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. Nature Genet. 4 (1993) 170-173
128. Bennett C.P., Docherty Z., Robb S.A., Ramani P., Hawkins J.R., and Grant D. Deletion 9p and sex reversal. J Med Genet 30 (1993) 518-520
129. Wilkie A.O.M., Campbell F.M., Daubeney P., Grant D.B., Daniels R.J., Mullarkey M., Affara N.A., Fitchett M., and Huson S.M. Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review. Am J Med Genet 46 (1993) 597-600
130. Espiner E.A., Veale A.M.O., Sands V.E., and Fitzgerald P.H. Familial syndrome of streak gonads and normal male karyotype in five phenotypic females. N Engl J. Med. 2883 (1970) 6-11
131. German J., Simpson J.L., Chaganti R.S.K., Summitt R.L., Reid L.B., and Merkatz I.R. Genetically determined sex reversal in 46,XY humans. Science 202 (1978) 53-56
132. Fechner P.Y., Marcantino S.K., Ogata T., Crowley M., Rosales T.O., Smith K.D., Goodfellow P.N., Migeon C.J., and Berkovitz G.D. Report of a kindred with X-linked 46,XY partial gonadal dysgenesis. J Clin Endocrinol Metab 76 (1993) 1248-1253
133. Kent M.G., Schoffner R.N., Buoen L., and Weber A.F. XY sex reversed syndrome in the domestic horse. Cytogenet Cell Genet. 42 (1986) 8-18
134. Berstein R., Jenkins T., Dawson B., Wagner J., Dewald G., Koo G.C., and Wachtel S.S. Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H-Y antigen and Xg blood group findings. J Med Genet. 17 (1980) 291-300
135. Scherer G., Schempp W., Baccichetti C., Lenzini E., Bricarelli F.D., Carbone L.D., and Wolf U. Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man. Hum Genet 81 (1989) 291-294
136. Stern H.J., Garrity A.M., Seal H.M., Wangsa D., and Disteche C.M. Duplication Xp21 and sex reversal: Insight into the mechanism of sex determination. Am J Hum Genet 47 Suppl (1990) A41
137. Ogata T., Hawkins J.R., Taylor A., Matsuo N., Hata J., and Goodfellow P.N. Sex reversal in a child with a 46,X,Yp+karyotype: Support for the existance of gene(s) located in distal Xp, involved in testis formation. J Med Genet 29 (1992) 226-230
138. Narahara K., Kodama Y., Kimura S., and Kimoto H. Probable inverted tandem duplication of Xp in a 46,Xp+Y boy. Jpn Hum Genet 24 (1979) 105-110
139. Nielson K.B., and Langkjaer F. Inherited partial X chromosome duplication in a mentally retarded male. J Med Genet 19 (1982) 222-224
140. May K.M., Grizald K.A., and Blackson R.S. Sex reversal and multiple abnormalities due to abnormal segregation of t(X:16)(p11.4:p13.3). Am J Hum Genet. 49 Suppl (1991) 19
141. Bardoni B., Floridia G., Guioli S., Peverali G., Anichini C., Cisternino M., Casalone R., Danesino C., Fraccaro M., Zuffardi O., and Camerino G.s. Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq. Hum Genet 91 (1993) 333-338
142. Arn P., Chen H., Tuck-Muller C.M., Mankinen C., Wachtel G., Shen C.-C., and Wachtel S.S. SRVX, a sex reversing locus in Xp21.2-p22.11. Hum Genet. 93 (1994) 389-393
143. Bardoni B., Zanaria F., Guioli S., Floridia G., Worley K.C., Tonini G., Ferrante E., Chiumello C., McCabe E.R.B., Franccaro M., Zuffardi O., and Camerino G. A dosage sensitive locus at chromosome Xp21 in involved in male to female sex reversal. Nature Genetics 7 (1994) 497-501
144. Rao P.N., Klinepeter K., Stewart W., Hayworth R., Grubs R., and Pettenati M.J. Molecular cytogenetic analysis of a duplication Xp in a male: Further delineation of a possible sex influencing region on the X chromosome. Hum Genet. 94 (1994) 149-153
145. Fredga K. Aberrant chromosomal sex-determining mechanisms, in mammals, with special reference to species with XY females. Phil Trans R Soc. Lond B 322 (1988) 83-95
146. Fredga K., Gropp A., Minking H., and Frank F. Fertile XX-and XY-type females in the wood lemming Myopus schisticolor. Nature 261 (1976) 225-227
147. Lau Y.-F.C., Yang-Feng T.L., Elder B., Fredga K., and Wiberg U.H. Unusual distribution of Zfy and Zfx sequences on the sex chromosomes of the wood lemming, a species exhibiting XY sex reversal. Cytogenet Cell Genet 60 (1992) 48-54
148. Cate R.L., and Wilson C.A. Müllerian inhibiting substance. In: Gawkin R. (Ed). Genes in mammalian reproduction (1993), Wiley and Sons, New York 185-205
149. Vigier B., Watrin F., Magre S., Tran D., and Josso N. Purified bovine AMH induces a characteristic freemartin effect in fetal rat prospective ovaries exposed to it in vitro. Development 100 (1987) 43-55
150. Behringer R., Cate R.L., Frasoelick G.J., Palmiter R., and Brinster R. Abnormal sexual development in transgenic mice chronically expressing Müllerian inhibiting substance. Nature 345 (1990) 167-170
151. Münsterberg A., and Lovell-Badge R. Expression of the mouse anti-Müllerian hormone gene suggests a role in both male and female sexual differentiation. Development 113 (1991) 613-624
152. Koopman P., Munsterberg A., Capel B., Vivian N., and Lovell-Badge R. Expression of a candidate sex determining gene during mouse testis differentiation. Nature 348 (1990) 450-452
153. Imbeaud S., Carré-Eusèbe D., Rey R., Belville C., Josso N., and Picard J.-Y. Molecular genetics of the persistent Müllerian duct syndrome: A study of 19 families. Hum Mol Genet 3 (1994) 125-131
154. Lala D.S., Rice D.A., and Parker K.L. Steroidogenic factor 1, a key regulator of steroidogenic enzyme expression is the mouse homolog of fushi tarazu-factor 1. Mol Endocrinol 6 (1992) 1249-1258
155. Lavorgna G., Ueda H., Clos J., and Wu C. FTZ-F1, a steroid hormone receptor-like protein implicated in the activation of fushi taratzu. Science 252 (1991) 848-851
156. Tsukiyama T., Ueda H., Hirose S., and Niwa O. Embryonal long terminal repeat-binding protein, is a mouse homolog of FTZ-F1, a member of the steriod receptor superfamily. Mol Cell Biol. 12 (1991) 1286-1291
157. Ikeda Y., Lala D.S., Luo X., Kim E., Moisan M.-P., and Parker K.L. Characterisation of the mouse FTZ-F1 gene, which encodes a key regulator of steroid kydroxylase gene expression. Mol Endocrinol. 7 (1993) 852-860
158. Lynch J.P., Lala D.A., Peluso J.J., Luo W., Parker K.L., and White B.A. Steroidogenic factor 1, an orphan nuclear receptor regulates the expression of the rat aromatase gene in gonadal tissues. Mol Endocrinol. 7 (1993) 776-786
159. Ikeda Y., Shen W.-H., Ingraham H.A., and Parker K.L. Developmental expression of mouse steroidogenic factor 1, an essential regulator of the steroid hydroxylases. Mol Endocrinol. 8 (1994) 654-662
160. Luo X., Ikeda Y., and Parker K.L. A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 77 (1994) 481-490
161. Shen W.-H., Moore C.C.D., Ikeda Y., Parker K.L., and Ingraham H.A. Nuclear receptor Steroidogenic Factor 1 regulates the Müllerian Inhibiting Substance gene: a link to the sex determination cascade. Cell 77 (1994) 651-661
162. Matsunga E. Genetics of Wilms' Tumor. Hum Genet. 57 (1981) 231-246
163. Riccardi V.M., Sujansky E., Smith A.C., and Franke U. Chromosomal imbalance in the anridia-Wilms' tumor association: 11p interstitial. Pediatrics 61 (1978) 604-610
164. Franke U., Holmes L.B., Atkins L., and Riccardi V.M. Aniridia-Wilms' tumor association: Evidence for specific deletion of 11p13. Cytogenet Cell Genet. 24 (1979) 185-192
165. Call K.M., Glaser T., Ito C.Y., Buckler A.J., Pelletier J., Haber D.A., Rose E.A., Kral A., Yeger H., Lewis H.W., Jones C., and Housman D.E. Isolation and characterisation of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell 60 (1990) 509-520
166. Gessler M., Poustka A., Cavenee W., Neve R.L., Orkin S.H., and Bruns G.A.P. Homozygous deletion in Wilms' tumors of a zinc finger gene identified by chromosome jumping. Nature 343 (1990) 774-778
167. Haber D.A., Sohn R.L., Buckler A.J., Pelletier J., Call K.M., and Housman D.E. Alternative splicing and genomic structure of the Wilms' tumor gene WT1. Proc Natl Acad Sci USA 88 (1991) 9618-9622
168. Pritchard-Jones K., Fleming S., Davidson D., Bickmore W., Gosden C., Bard J., Buckler A., Pelletier J., Housman D., van Heyningen V., and Hastie N. The candidate Wilms' tumour gene is involved in genitourinary development. Nature 3346 (1990) 194-197
169. Armstrong J.F., Pitchard-Jones K., Bickmore W.A., Hastie N.D., and Barid J.L.B. The expression of the Wilms' tumour gene, WT1 in the developing mammalian embryo. Mech Dev. 40 (1992) 85-97
170. Pelletier J., Schalling M., Buckler A.J., Rogers A., Haber D.A., and Housman D. Expression of the Wilms' tumor gene WT1 in the murine urogenital system. Genes Dev. 5 (1991) 1345-1356
171. Madden S.L., Cook D.M., Morris J.F., Gashler A., Sukhatmre V.P., and Rauscher F.J. Transcriptional repression mediated by the WT1 Wilms' tumor gene product. Science 253 (1991) 1550-1553
172. Wang Z.Y., Madden S.L., Deuel T.F., and Tauscher F.J. The Wilms' tumor gene product, WT1, repressed transcription of the platelet-derived growth factor A-chain gene. J Biol Chem. 267 (1992) 2199
173. Drummond J.A., Madden S.L., Rohwer N.P., Bell G.I., Sukhatme V.P., and Rausscher F.J. Repression of the insulin-like growth factor II gene by the Wilms' tumor suppressor WT1. Science 257 (1992) 674-678
174. Gashler A.L., Bonthron D.T., Madden S.L., Rauscher III J.F., Collins T., and Sukhatme V.P. Human platelet-derived growth factor A chain is transcriptionally repressed by the Wilms' tumor supressor WT1. Proc Natl Acad Sci USA 89 (1992) 10984-10988
175. Wang Z.-Y., Qiu Q.-Q., and Deuel T.F. The Wilms' ltumor gene product WT1 activates or suppresses transcription through separate functional domains. J Biol Chem 268 (1993) 9172-9175
176. Maheswaran S., Park S., Bernard A., Morris J.F., Rauscher III J.F., Hill D.E., and Haber D.A. Physical and functional interaction between WT1 and P53 proteins. Proc Natl Acad Sci USA 90 (1993) 5100-5104
177. Haber D.A., Park S., Maheswaran S., Englert C., Re G.G., Hazen-Martin D.J., Sens D.A., and Garvin A.J. WTI-mediated growth suppression of Wilms' tumor cells expressing a WT1 splicing variant. Science 262 (1993) 2057-2059
178. Habib R., Loiret C., Gubler M.C., Niaudet P., Bensman A., Levy M., and Broyer M. The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): A distinctive glomerular lesion-report of 10 cases. Clin Nephrol. 24 (1985) 265-278
179. Coppes M.J., Campbell C.E., and Williams B.R. The role of WT1 in Wilms' tumorigenesis. FASEB. 7 (1993) 886-895
180. Pelletier J., Bruening W., Kashtan C.E., Mauer S.M., Manivel J.C., Stiegel J.E., Houghton D.C., Junien C., Habib R., Fouser L., Fouser L., Fine R.N., Silverman B.L., Haber D.A., and Housman D. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67 (1991) 437
181. Huff V., Vilalba F., Strong L.C., and Saunders G.F. Alterations of the WT1 gene in patients with Wilms' tumor and genitourinary anomalies. Am J Hum Genet. 49 (1991) 44
182. Coppes M.J., Liefers G.J., Higuchi M., Zinn A.B., Balfe J.W., and Williams B.R. Inherited WT1 mutation in Denys-Drash syndrome. Cancer Res. 52 (1992) 6125-6128
183. Bruening W., Bardeesy N., Silverman B.L., Cohn R.A., Aronson A.J., Housman D., and Pelletier J. Germline intronic and exonic mutations in the Wilms' tumor gene (WT1) affecting urogenital development. Nature Genet. 1 (1992) 144-148
184. Baird P.N., Santos A., Groves N., Jadressic L., and Cowell J.K. Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. Hum Mol Genet. 1 (1992) 301-305
185. König A., Jakubiczka S., Wieacker P., Schlösser H.W., and Gessler M. Further evidence that imbalance of WT1 isoforms may be involved in Denys-Drash syndrome. Hum Mol Genet. 2 (1993) 1967-1968
186. Hastie N.D. Dominant negative mutations in the Wilms' tumor (WT1) gene cause Denys-Drash syndrome-proof that tumor-suppressor gene plays a crucial role in normal genitourinary development. Hum Mol Genet. 1 (1992) 293-295
187. Kreidberg J.A., Sariola H., Loring J.M., Maeda M., Pelletier J., Housman D., and Jaenisch T. WT1 is required for early kidney development. Cell 74 (1993) 679-691
188. McElreavy K., Vilain E., Abbas N., Herskowitz I., and Fellous M. A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. Proc Natl Acad Sci USA 90 (1993) 3368-3372
189. Hamerton J.L., Dickson J.M., IPollard C.E., Grieves S.A., and Short R.V. Genetic intersexuality in goat. J Reprod Fertil. 7 Supplement (1969) 25-51
190. Shelden J.R., Wachtel S.S., Koo G.C., Haskins M.E., and Patterson D.F. Genetic basis of XX male syndrome and XX true hermaphroditism: Evidence in the dog. Science 201 (1978) 644-646
191. Sittmann K., Breeuwsma A.J., and Brake J.H.A. On the inheritance of intersexuality in swine. Can J Genet Cytol. 22 (1980) 507-527
192. Cribiu E.P., and Chaffaux S. L'intersexualité chez les mammifères domestiques. Reprod Nutr Dev. 1 (1990) 51s-61s
193. Soller M., and Angel H. Polledness and abnormal sex ratios in Saanen goats. J Heredity 55 (1964) 139-142
194. Tar A., Solyom J., Barbaux S., Vilain E., Fellous M., and McElreavey K. A deletion of distal Xp associated with testicular development in an SRY-negative 46,XX true hermaphrodite. Hum Genet g6 (1995) 464-468
195. Ballabio A., and Andria G. Deletions and translocations involving the distal short arm of the human X chromosome: Review and hypothesis. Hum Mol Genet. 1 (1992) 221-227
196. Cowles T., Furman P., and Wilkins I. Prenatal diagnosis of Dendy-Walker malformation in a family displaying X-linked inheritance. Prenatal Diagnosis 13 (1993) 87-91
197. Krumlauf R. Hox genes and pattern formation in the branchial region of the vertebrate head. Trends Genet. 9 (1993) 106-112
198. Nöthiger R., and Steinmann-Zwicky M. A single principle for sex determination in insects. Development 101 Suppl (1987) 615-621