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Research Article

Genes essential for early events in gonadal development

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Pages 171-178 | Published online: 08 Jul 2009

References

  • Jost A. Studies on sex differentiaticn in mammals. Rec Prog Horm Res 1953; 8: 379–418.
  • Jost A, Vigier B, Prepin J, Perchellet J. Studies on sex differentiaticn in mammals. Rec Prog Horm Res 1973; 29: 1–41.
  • Byskov AF. Differentiaticn of the mammalian embryonic gonad. Physiol Rev 1986; 66: 71–117.
  • Zimmermann S, Steding G, Emmen JMA, Brinkmann AO, Nayernia K, Holstein AF, et al. Targeted disruption of the Ins13 gene causes bilateral cryptorchidism. Mol Endocrinol 1999; 13: 681–91.
  • Goodfellow PN, Lovell-Badge R. SRY and sex determina-tion in mammals. Annu Rev Genet 1993; 27: 71–92.
  • Cape! B. Sex in the 90s: SRY and the switch to the male pathway. Annu Rev Physiol 1998; 60: 497–523.
  • Parker KL, Schimmer BP. Steroidogenic factor 1: a key determinant of endocrine development and function. Endo-crine Rev 1997; 18: 361–77.
  • Morohashi KI, Omura T. Ad4BP/SF-1, a transcripticn factor essential for the transcription of steroidogenic cytochrome P450 genes and for the establishment of the reproductive function. FASEB J 1996; 10: 1569–77.
  • Hammer GD, Ingraham HA. 1999 Steroidogenic factor-1: its role in endocrine organ development and differentiation. Front Neuroendocrinol 1999; 20: 199–223.
  • Sadovsky Y, Dorn D. Function of steroidogenic factor 1 during development and differentiaticn of the reproductive system. Rev Repro 2000; 5: 136–42.
  • Achermann JC, Ito M, Hindmarsh PC, Jameson JL. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 1999; 22: 125–6.
  • Biason-Lauber A, Schoenle EJ. Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocor-tical insufficiency. Am J Hum Genet 2000; 67: 1563–8.
  • Hastie ND. The genetics of Wilms' tumor-a case of disrupted development. Annu Rev Genet 1993; 28: 523–58.
  • ICreidberg JA, Sariola H, Loring JM, Maeda M, Pelletier J, Houseman D, et al. WT-1 is essential for early kidney development. Cell 1993; 74: 679–91.
  • Moore, AW, McInnes L, Kreidberg J, Hastie ND, Schedl A. YAC complementation shows a requirement for Wt1 in the development of epicardium, adrenal gland and throughout nephrogenesis. Development 1999; 126: 1845–57.
  • Barbaux S, Niaudet P, Gubler MC, Grunfeld JP, Jaubert F, Kuttenn F, et al. Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 1997; 17: 467–70.
  • Hammes A, Guo J-K, Lutsch G, Leheste J-R, Landrock D, Ziegler U, et al. Two splice variants of the Wilm's tumor 1 gene have distinct functions during sex determination and nephron formation. Cell 2001; 106: 319–29.
  • Scharnhorst V, van der Erb AJ, Jochemsen AG. WT1 proteins: functions in growth and differentiation. Gene 2001; 273: 141–61.
  • Nachtigal MW, Hirokawa Y, Enjeart-VanHouten DL, Flanagan JN, Hammer GD, Ingraham HA. Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression. Cell 1998; 93: 445–54.
  • Hossain A, Saunders GF. The human sex-determining gene SRY is a direct target of WT1. J Biol Chem 2001; 276: 16817–23.
  • Koopman P. Sry and Sox9: mammalian testis-determining genes. Cell Mol Life Sci 1999; 55: 639–56.
  • Morais de Silva S, Hacker A, Harley V, Goodfellow P, Swain A, Lovell-Badge R. Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiaticn in mammals and birds. Nat Genet 1995; 14: 62–8.
  • Huang B, Wang S, Ning Y, Lamb AN, Bardey J. Autosomal XX sex reversal caused by duplication of 50X9 Am J Med Genet 1999; 32: 349–53.
  • Bishop CE, Whitworth DJ, Om Y, Agoulnik IU, Harrison WR, Behringer RR, et al. A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse. Nat Genet 2000; 26: 490–4.
  • Vidal VP, Chaboissier MC, de Rooij DG, Schedl A. Sox9 induces testis development in XX transgenic mice. Nat Genet 2001; 28: 216–7.
  • de Santa Barbara P, Bonneaud N, Boizet B, Desdozeaux M, Moniot B, Sudbeck P, et al. Direct interaction of SRY-related protein 50X9 and steroidogenic factor 1 regulates transcrip-tion of the human anti-Müllerian hormone gene. Mol Cell Biol 1998; 18: 6653–65.
  • Molkentin JD. The zinc finger-containing transcription factors GATA-4, -5, and-6. Ubiquitously expressed regulators of tissue-specific gene expression. J Biol Chem 2000; 275: 38949–52.
  • Tremblay JJ, Viger RS. Transcription factor GATA-4 enhances Milllerian inhibiting substance gene transcription through a direct interaction with SF-1. Mol Endocrinol 1999; 13: 1388–401.
  • Tremblay JJ, Viger RS. GATA factors differentially activate multiple gonadal promoters through conserved GATA reg-ulatory elements. Endocrinology 2001; 142: 977–86.
  • Tremblay JJ, Viger RS. Nuclear receptor Dax-1 represses the transcriptional cooperation between GATA-4 and SF-1 in sertoli cells. Biol Repro 2001; 64: 1191–9.
  • Goodfellow PN, Camerino G. DAX-1, an "antitestis" gene. Cell Mol Life Sci 1999; 55: 857–63.
  • Swain A, Narvaez S, Burgoyne P, Camerino G, Lovell-Badge R. DAX1 antagonizes SRY action in mammalian sex determination. Nature 1998; 391: 761–7.
  • Yu R, Ito T, Saunders S, Camper SA, Jameson JL. Role of Ahch in gonadal development and gametogenesis. Nat Genet 1998; 20: 353–7.
  • Shawlot W, Behringer RA. Requirement for Lim1 in head organizer function. Nature 1995; 374: 425–30.
  • Miyamoto N, Yoshida M, Kuratani S, Matsuo I, Aizawa S. Defects of urogenital development and in mice lacking Emx2. Development 1997; 124: 1653–64.
  • Birk OS, Casian DE, Wassif CA, Cogliati T, Zhao L, Zhao Y, et al. The LIM homeobox gene Lhx9 is essential for mouse gonad formation. Nature 2000; 403: 909–13.
  • Shen JH-C, Ingraham HA. Regulation of the orphan nuclear receptor steroidogenic factor 1 by Sox proteins. Mol Endocri-nol 2002; 16: 529–40.
  • Kawabe K, Shikayama T, Tsuboi H, Oka S, Oba K, Yanase T, et al. Dax-1 as a target gene of SF-1. Mol Endocrinol 1999; 13: 1267–84.
  • Yu RN, Jameson JL. The murine Dax-1 promoter is stimulated by SF-1 (steroidogenic factor-1) and inhibited by COUP-TF (chicken ovalbumin upstream promoter-transcrip-tion factor) via a composite nuclear receptor-regulatory element. Mol Endocrinol 1998; 12: 1010–22.
  • Colvin JS, Green RP, Schmahl J, Cape! B, Ornitz DM. Male to female sex reversal in mice lacking the fibroblast growth factor 9. Cell 2001; 104: 875–89.
  • Dale TC. Signal transduction by the Wnt family of ligands. Biochem J 1998; 329: 209–23.
  • Vanio S, Heikkila M, Kispert A, Chin N, McMahon A. Female development in mammals is regulated by Wnt-4 signaling. Nature 1999; 397: 405–9.
  • Jordan BK, Mohammed M, Ching ST, Delot E, Chen XN, Dewing P, et al. Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans. Am J Hum Genet 2001; 68: 1102–9.
  • Soya! SM, Amieh A, Dean J. FIGa, a germ cell-specific transcription factor required for ovarian follicle formation. Development 2000; 127: 4645–54.
  • Dong J, Albertini DF, Nishimori K, Kumar TR, Lu N, Matzuk MM. Growth differentiation factor-9 is required during early ovaran folliculogenesis. Nature 1996; 383: 531–5.
  • Nachtigal M, Ingraham HA. Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression. Cell 1998; 93: 445–54.
  • de Santa Barbara P, Monio B, Poilat F, Berta P. Expression and subcellular localizaticn of SF-1, 50X9, WT1, and AMH proteins during early human testicular development. Dev Dyn 2000; 217: 293–8.
  • Arango NA, Lovell-Badge R, Behringer RR. Targeted mutagenesis of the endogenous mouse Mis gene promoter: in vivo definition of genetic pathways of vertebrate sexual development. Cell 1999; 99: 409–19.
  • Watanabe K, Clarke TR, Lane AH, Wang X, Donahoe PK. Endogenous expression of Müllerian inhibiting substance in early postnatal rat sertoli cells requires multiple steroidogenic factor-1 and GATA-4 binding sites. Proc Natl Acad Sci USA 2000; 97: 1624–9.

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