Long-range activation of Sox9 in Odd Sex (Ods) mice

Human Molecular Genetics

Volumn 13, Issue 12, 2004, Pages 1213-1218

  Qin, Yangjun ^a   Kong, Ling Kun ^a   Poirier, Christophe ^a   Truong, Cavatina ^a   Overbeek, Paul A ^a   Bishop, Colin E ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DOPACHROME TAUTOMERASE; MONOPHENOL MONOOXYGENASE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SOX9; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ARTICLE; CATARACT; CONTROLLED STUDY; ENHANCER REGION; FEMALE; GENE ACTIVATION; GENE DELETION; GENE EXPRESSION REGULATION; GENE MUTATION; GONAD; MALE; MELANOCYTE; MICROPHTHALMIA; MOUSE; MOUSE STRAIN; NONHUMAN; PHENOTYPE; PIGMENT DISORDER; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROMOTER REGION; SEX TRANSFORMATION; TESTIS DEVELOPMENT; TRANSGENE; UPREGULATION;

ANIMALS; ENHANCER ELEMENTS (GENETICS); EYE; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GONADS; HIGH MOBILITY GROUP PROTEINS; INTRAMOLECULAR OXIDOREDUCTASES; MALE; MICE; MICE, MUTANT STRAINS; MICE, TRANSGENIC; MUTATION; PIGMENTATION; PROMOTER REGIONS (GENETICS); SEX REVERSAL, GONADAL; TRANSCRIPTION FACTORS; TRANSGENES;

EID: 3042730829     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh141     Document Type: Article

References (27)

1. Burgoyne, P.S., Buehr, M., Koopman, P., Rossant, J. and McLaren, A. (1988) Cell-autonomous action of the testis-determining gene: Sertoli cells are exclusively XY in XX-XY chimaeric mouse testes. Development, 102, 443-450.
2. Albrecht, K.H. and Eicher, E.M. (2001) Evidence that Sry is expressed in pre-Sertoli cells and Sertoli and granulosa cells have a common precursor. Dev. Biol., 240, 92-107.
3. Koopman, P., Gubbay, J., Vivian, N., Goodfellow, P. and Lovell-Badge, R. (1991) Male development of chromosomally female mice transgenic for Sry. Nature, 351, 117-121.
4. Schmahl, J., Eicher, E.M., Washburn, L.L. and Capel, B. (2000) Sry induces cell proliferation in the mouse gonad. Development, 127, 65-73.
5. Burgoyne, P.S., Mahadevaiah, S.K., Sutcliffe, M.J. and Palmer, S.J. (1992) Fertility in mice requires X-Y pairing and a Y-chromosomal 'spermiogenesis' gene mapping to the long arm. Cell, 71, 391-398.
6. Swain, A. and Lovell-Badge, R. (1999) Mammalian sex determination: a molecular drama. Genes Dev., 13, 755-767.
7. Morrish, B.C. and Sinclair, A.H. (2002) Vertebrate sex determination: many means to an end. Reproduction, 124, 447-457.
8. Capel, B. (2000) The battle of the sexes. Mech. Dev., 92, 89-103.
9. Katoh-Fukui, Y., Tsuchiya, R., Shiroishi, T., Nakahara, Y., Hashimoto, N., Noguchi, K. and Higashinakagawa, T. (1998) Male-to-female sex reversal in M33 mutant mice. Nature, 393, 688-692.
10. Tilmann, C. and Capel, B. (2002) Cellular and molecular pathways regulating mammalian sex determination. Recent Prog. Horm. Res., 57, 1-18.
11. Lovell-Badge, R., Canning, C. and Sekido, R. (2002) Sex-determining genes in mice: building pathways. Novartis Found. Symp., 244, 4-18 (discussion 18-22, 35-42, 253-257).
12. Tevosian, S.G., Albrecht, K.H., Crispino, J.D., Fujiwara, Y., Eicher, E.M. and Orkin, S.H. (2002) Gonadal differentiation, sex determination and normal Sry expression in mice require direct interaction between transcription partners GATA4 and FOG2. Development, 129, 4627-4634.
13. Kent, J., Wheatley, S.C., Andrews, J.E., Sinclair, A.H. and Koopman, P. (1996) A male-specific role for SOX9 in vertebrate sex determination. Development, 122, 2813-2822.
14. Morais da Silva, S., Hacker, A., Harley, V., Goodfellow, P., Swain, A. and Lovell-Badge, R. (1996) Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds. Nat. Genet., 14, 62-68.
15. Foster, J.W., Dominguez-Steglich, M.A., Guioli, S., Kowk, G., Weller, P.A., Stevanovic, M., Weissenbach, J., Mansour, S., Young, I.D., Goodfellow, P.N. et al. (1994) Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature, 372, 525-530.
16. Huang, B., Wang, S., Ning, Y., Lamb, A. and Bartley, J. (1999) Autosomal XX sex reversal caused by duplication of SOX9. Am. J. Med. Genet., 87, 349-353.
17. Vidal, V.P., Chaboissier, M.C., de Rooij, D.G. and Schedl, A. (2001) Sox9 induces testis development in XX transgenic mice. Nat. Genet., 28, 216-217.
18. Bishop, C.E., Whitworth, D.J., Qin, Y., Agoulnik, A.I., Agoulnik, I.U., Harrison, W.R., Behringer, R.R. and Overbeek, P.A. (2000) A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse. Nat. Genet., 26, 490-494.
19. Bergstrom, D.E., Young, M., Albrecht, K.H. and Eicher, E.M. (2000) Related function of mouse SOX3, SOX9, and SRY HMG domains assayed by male sex determination. Genesis, 28, 111-124.
20. Qin, Y., Poirier, C., Truong, C., Schumacher, A., Agoulnik, A.I. and Bishop, C.E. (2003) A major locus on mouse chromosome 18 controls XX sex reversal in Odd Sex (Ods) mice. Hum. Mol. Genet., 12, 509-515.
21. Zhao, S. and Overbeek, P.A. (1999) Tyrosinase-related protein 2 promoter targets transgene expression to ocular and neural crest-derived tissues. Dev. Biol., 216, 154-163.
22. Bedell, M.A., Brannan, C.I., Evans, E.P., Copeland, N.G., Jenkins, N.A. and Donovan, P.J. (1995) DNA rearrangements located over 100 kb 5′ of the Steel (Sl)-coding region in Steel-panda and Steel-contrasted mice deregulate Sl expression and cause female sterility by disrupting ovarian follicle development. Genes Dev., 9, 455-470.
23. Wunderle, V.M., Critcher, R., Hastie, N., Goodfellow, P.N. and Schedl, A. (1998) Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia. Proc. Natl Acad. Sci. USA, 95, 10649-10654.
24. Loots, G.G., Locksley, R.M., Blankespoor, C.M., Wang, Z.E., Miller, W., Rubin, E.M. and Frazer, K.A. (2000) Identification of a coordinate regulator of interleukins 4, 13, and 5 by cross-species sequence comparisons. Science, 288, 136-140.
25. Nobrega, M.A., Ovcharenko, I., Afzal, V. and Rubin, E.M. (2003) Scanning human gene deserts for long-range enhancers. Science, 302, 413.
26. Nobrega, M. and Pennacchio, L.A. (2004) Comparative genomic analysis as a tool for biological discovery. J. Physiol., 554, 31-39.
27. Zheng, B., Mills, A.A. and Bradley, A. (1999) A system for rapid generation of coat color-tagged knockouts and defined chromosomal rearrangements in mice. Nucl. Acids Res., 27, 2354-2360.