Testis-determining factor and gonadal dysgenesis

International Journal of Urology

Volumn 4, Issue 1, 1997, Pages 3-7

  Shima, Hiroki ^a   Kuraoka, Tetsuro ^a   Hashimoto, Tomoko ^a  

^a HYOGO COLLEGE OF MEDICINE   (Japan)

Author keywords

Dysgenesis; Gonad; Sex reversal; Testis determining factor

Indexed keywords

TESTIS DETERMINING FACTOR;

EMBRYO DEVELOPMENT; GENE ACTIVATION; GENE ISOLATION; GENE LOCUS; GENE STRUCTURE; GONADAL DYSGENESIS; KARYOTYPE 46,XY; OVARY; PRIORITY JOURNAL; SEX TRANSFORMATION; SHORT SURVEY; XX MALE; Y CHROMOSOME;

EID: 0030940688     PISSN: 09198172     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1442-2042.1997.tb00129.x     Document Type: Short Survey

References (30)

1. Wachtel SS, Ohno S, Koo GC, Boyse EA. Possible role for H-Y antigen in the primary determination of sex. Nature 1975;257:235-236.
2. McLaren A, Simpson E, Tomonari K, Chandler P, Hogg H. Male sexual differentiation in mice lacking H-Y antigen. Nature 1984;312:552-555.
3. Simpson E, Chandler P, Goulmy E, Disteche CM, Ferguson-Smith MA, Page DC. Separation of the genetic loci for the H-Y antigen and for testis determination on human Y chromosome. Nature 1987; 326:876-878.
4. Page DC, Mosher R, Simpson EM, Fisher EMC, Mardon G, Pollack J, McGillivray B, de la Chapelle A, Brown LG. The sex-determining region of the human Y chromosome encodes a finger protein. Cell 1987; 51:1091-1104.
5. Palmer MS, Sinclair AH, Berta P, Ellis NA, Goodfellow PN, Abbas NE, Fellous M. Genetic evidence that ZFY is not the testis-determining factor. Nature 1989;342:937-939.
6. Koopman P, Gubbay J, Collignon J, Lovell-Badge R. Zfy gene expression patterns are not compatible with a primary role in mouse sex determination. Nature 1989;342:940-942.
7. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf A-M, Lovell-Badge R, Goodfellow PN. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 1990;346:240-244.
8. Gubbay J, Collignon J, Koopman P, Capel B, Economou A, Münsterberg A, Vivian N, Goodfellow PN, Lovell-Badge R. A gene mapping to the sex-determining region of the mouse Y chromosome is a member of novel family of embryonically expressed genes. Nature 1990;346:245-250.
9. Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R. Male development of chromosomally female mice transgenic for Sry. Nature 1991;351:117-121.
10. Harley VR, Goodfellow PN. The biochemical role of SRY in sex determination. Mol Reprod Dev 1994; 39:184-193.
11. Haqq CM, King C-Y, Donahoe PK, Weiss MA. SRY recognizes conserved DNA sites in sex-specific promoters. Proc Natl Acad Sci USA 1993;90:1097-1101.
12. Hickey GJ, Krasnow JS, Beattie WG, Richards JS. Aromatase cytochrome P450 in rat ovarian granulosa cells before and after luteinization: adenosine 3′,5′-monophosphate-dependent and independent regulation. Cloning and sequencing of rat aromatase cDNA and 5′ genomic DNA. Mol Endocrinol 1990;4: 3-12.
13. Jost A. Recherches sur la differenciation sexuelle de lapin. III. Rôre des gonades foetales dans la differenciation sexuelle somatique. Arch Anat Microsc Morphol Exp 1947;36:271-315.
14. Josso N, Picard JY, Tran D. The antimüllerian hormone. Recent Prog Horm Res 1977;33:117-167.
15. Donahoe PK, Budzik GP, Trelstad RL, Mudgett-Hunter M, Fuller AF Jr, Hutson JM, Ikawa H, Hayashi A, MacLaughlin DT. Müllerian inhibiting substance: an update. Rec Prog Horm Res 1982;38:279-330.
16. Hayashi M, Shima H, Hayashi K, Trelstad RL, Donahoe PK. Immunocytochemical localization of Müllerian inhibiting substance in the rough endoplasmic reticulum and Golgi apparatus in Sertoli cells of the neonatal calf testis using a monoclonal antibody. J Histochem Cytochem 1984;32:649-654.
17. Cate RL, Mattaliano RJ, Hession C, Tizar R, Farber NM, Cheung A, Ninfa EG, Frey AZ, Gash DJ, Chow EP, Fisher RA, Bertonis JM, Torres G, Wallner BP, Ramachandran KL, Ragin RC, Manganaro TF, MacLaughlin DT, Donahoe PK. Isolation of the bovine and human genes for Müllerian inhibiting substance and expression of the human gene in animal cells. Cell 1986;45:685-698.
18. Haqq CM, King C-Y, Ukiyama E, Falsafi S, Haqq TN, Donahoe PK, Weiss MA. Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY. Science 1994;266:1494-1500.
19. Harley VR, Lovell-Badge R, Goodfellow PN. Definition of a consensus DNA binding site for SRY. Nucleic Acids Res 1994;22:1500-1501.
20. de la Chapelle A, Hortling H, Niemi M, Wennstrom J. XX sex chromosomes in a human male: first case. Acta Med Scand 1964;412(suppl):25-38.
21. McElreavey K, Vilain E, Abbas N, Herskowitz I, Fellous M. A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. Proc Natl Acad Sci USA 1993;90:3368-3372.
22. Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C, Goodpasture C, Guldberg P, Held KR, Reinwein H, Saugstad OD, Scherer G, Skjeldal O, Toder R, Westvik J, van der Hogan CB, Wolf U. Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. Nature Genet 1993;4:170-174.
23. Wright E, Hargrave MR, Christiansen J, Cooper L, Kun J, Evans T, Gangadharan U, Greenfield A, Koopman P. The Sry-related gene Sox9 is expressed during chondrogenesis in mouse embryos. Nature Genet 1995;9:15-20.
24. Schneider S, Wildhardt G, Ludwig R, Royer-Pokora B. Exon shipping due to a mutation in a donor splice site in the WT-I gene is associated with Wilm's tumor and severe genital malformations. Hum Genet 1993;91: 559-604.
25. Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M. Genetic evidence equating SRY and the testis-determining factor. Nature 1990;348:448-450.
26. Jäger RJ, Anvret M, Hall K, Scherer G. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature 1990;348: 452-454.
27. Hawkins JR, Taylor A, Berta P, Levilliers J, Van der Auwera B, Goodfellow PN. Mutational analysis of SRY: Nosense and missense mutations in XY sex reversal. Hum Genet 1992;88:471-474.
28. Hawkins JR, Taylor A, Goodfellow PN, Midgeon CJ, Smith KD, Berkovitz GD. Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. Am J Hum Genet 1992b;45(suppl):A78.
29. Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ERB, Fraccaro M, Zuffardi O, Camerino G. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nature Genet 1994;7:497-501.
30. Collignon J, Sockanathan S, Hacker A, Cohen-Tannoudji M, Norris D, Rastan S, Stevanovic M, Goodfellow PN, Lovell-Badge R. A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2. Development 1996;122:509-520.