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Gene Review

Nr0b1  -  nuclear receptor subfamily 0, group B,...

Mus musculus

Synonyms: AHX, Ahc, Ahch, DAX-1, Dax1, ...
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Disease relevance of Nr0b1


High impact information on Nr0b1


Chemical compound and disease context of Nr0b1

  • We cloned the murine full-length cDNA encoding Ahch, the mouse homologue of DAX1 (DSS-AHC Region on Human X Chromosome, Gene1) which is the gene responsible for human X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) [8].
  • Although low DAX1 expression in aldosterone-producing adenomas (n = 5) was confirmed (P < 0.05), no correlation was found between the expression of all other genes and the tumors endocrine activity [9].

Biological context of Nr0b1


Anatomical context of Nr0b1


Associations of Nr0b1 with chemical compounds

  • The progressive degeneration of the germinal epithelium, independent of abnormal gonadotropin and testosterone production, suggested an intrinsic loss of Dax1 function in the Sertoli cells [2].
  • CONCLUSION: The present study revealed that the expression of Dax-1 in the adrenal cortex is regulated by androgen and the receptor [15].
  • DAX-1 is the gene responsible for X-linked adrenal hypoplasia congenita and blocks steroid biosynthesis by impairing the expression of steroidogenic acute regulatory protein [16].
  • Furthermore, DAX1 could also represent the putative X-linked switch gene, which independently controls sexual dimorphisms in marsupial mammals in an X-dose-dependent manner (D.W. Cooper et al., 1993, Semin. Dev. 4: 117-128) [17].
  • The cysteine residues in the putative DNA binding domain, which may interact with Zn2+ ions to form zinc fingers, are 100% conserved between the two species, indicating that the novel zinc-finger structures in DAX1 may be functional [8].

Physical interactions of Nr0b1


Regulatory relationships of Nr0b1


Other interactions of Nr0b1

  • The striking colocalization of SF-1 and Dax-1 supports the model that they are intimately linked in a common pathway of endocrine development [12].
  • Our results imply that it contributes to transcriptional activation of several relevant genes, not just those required for male development, including Sox9 and Amh, but also those that can have an antagonistic effect on Sertoli cell differentiation, such as Dax1 [23].
  • Expression of the Amh gene during sex differentiation requires the interaction of several transcription factors, including SF1, SOX9, GATA4, WT1, and DAX1 [24].
  • We thus conclude that Wnt4 signaling mediates the increased expression of Dax-1 as the ovary becomes sexually differentiated [25].
  • Moreover, FHL2 coactivates transactivation of the DAX1 promoter by WT1 [26].

Analytical, diagnostic and therapeutic context of Nr0b1


  1. Dax-1 as one of the target genes of Ad4BP/SF-1. Kawabe, K., Shikayama, T., Tsuboi, H., Oka, S., Oba, K., Yanase, T., Nawata, H., Morohashi, K. Mol. Endocrinol. (1999) [Pubmed]
  2. Sertoli cell-specific rescue of fertility, but not testicular pathology, in Dax1 (Ahch)-deficient male mice. Jeffs, B., Ito, M., Yu, R.N., Martinson, F.A., Wang, Z.J., Doglio, L.T., Jameson, J.L. Endocrinology (2001) [Pubmed]
  3. Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Swain, A., Zanaria, E., Hacker, A., Lovell-Badge, R., Camerino, G. Nat. Genet. (1996) [Pubmed]
  4. Role of Ahch in gonadal development and gametogenesis. Yu, R.N., Ito, M., Saunders, T.L., Camper, S.A., Jameson, J.L. Nat. Genet. (1998) [Pubmed]
  5. Blockage of the rete testis and efferent ductules by ectopic Sertoli and Leydig cells causes infertility in Dax1-deficient male mice. Jeffs, B., Meeks, J.J., Ito, M., Martinson, F.A., Matzuk, M.M., Jameson, J.L., Russell, L.D. Endocrinology (2001) [Pubmed]
  6. Dax1 is required for testis determination. Meeks, J.J., Weiss, J., Jameson, J.L. Nat. Genet. (2003) [Pubmed]
  7. Ahch and the feminine mystique. Parker, K.L., Schimmer, B.P. Nat. Genet. (1998) [Pubmed]
  8. Ahch, the mouse homologue of DAX1: cloning, characterization and synteny with GyK, the glycerol kinase locus. Guo, W., Lovell, R.S., Zhang, Y.H., Huang, B.L., Burris, T.P., Craigen, W.J., McCabe, E.R. Gene (1996) [Pubmed]
  9. Decreased expression of cyclic adenosine monophosphate-regulated aldose reductase (AKR1B1) is associated with malignancy in human sporadic adrenocortical tumors. Lefrançois-Martinez, A.M., Bertherat, J., Val, P., Tournaire, C., Gallo-Payet, N., Hyndman, D., Veyssière, G., Bertagna, X., Jean, C., Martinez, A. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  10. Nr0b1 and its network partners are expressed early in murine embryos prior to steroidogenic axis organogenesis. Clipsham, R., Niakan, K., McCabe, E.R. Gene Expr. Patterns (2004) [Pubmed]
  11. Nuclear receptors Sf1 and Dax1 function cooperatively to mediate somatic cell differentiation during testis development. Park, S.Y., Meeks, J.J., Raverot, G., Pfaff, L.E., Weiss, J., Hammer, G.D., Jameson, J.L. Development (2005) [Pubmed]
  12. Steroidogenic factor 1 and Dax-1 colocalize in multiple cell lineages: potential links in endocrine development. Ikeda, Y., Swain, A., Weber, T.J., Hentges, K.E., Zanaria, E., Lalli, E., Tamai, K.T., Sassone-Corsi, P., Lovell-Badge, R., Camerino, G., Parker, K.L. Mol. Endocrinol. (1996) [Pubmed]
  13. Role of the LXXLL-motif and activation function 2 domain in subcellular localization of Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1). Kawajiri, K., Ikuta, T., Suzuki, T., Kusaka, M., Muramatsu, M., Fujieda, K., Tachibana, M., Morohashi, K. Mol. Endocrinol. (2003) [Pubmed]
  14. Nuclear receptor Dax-1 represses the transcriptional cooperation between GATA-4 and SF-1 in Sertoli cells. Tremblay, J.J., Viger, R.S. Biol. Reprod. (2001) [Pubmed]
  15. Sexually dimorphic expression of Dax-1 in the adrenal cortex. Mukai, T., Kusaka, M., Kawabe, K., Goto, K., Nawata, H., Fujieda, K., Morohashi, K. Genes Cells (2002) [Pubmed]
  16. RIP 140 modulates transcription of the steroidogenic acute regulatory protein gene through interactions with both SF-1 and DAX-1. Sugawara, T., Abe, S., Sakuragi, N., Fujimoto, Y., Nomura, E., Fujieda, K., Saito, M., Fujimoto, S. Endocrinology (2001) [Pubmed]
  17. The candidate sex-reversing DAX1 gene is autosomal in marsupials: implications for the evolution of sex determination in mammals. Pask, A., Toder, R., Wilcox, S.A., Camerino, G., Graves, J.A. Genomics (1997) [Pubmed]
  18. Murine relaxin-like factor promoter: functional characterization and regulation by transcription factors steroidogenic factor 1 and DAX-1. Koskimies, P., Levallet, J., Sipilä, P., Huhtaniemi, I., Poutanen, M. Endocrinology (2002) [Pubmed]
  19. The atypical orphan nuclear receptor DAX-1 interacts with orphan nuclear receptor Nur77 and represses its transactivation. Song, K.H., Park, Y.Y., Park, K.C., Hong, C.Y., Park, J.H., Shong, M., Lee, K., Choi, H.S. Mol. Endocrinol. (2004) [Pubmed]
  20. SF-1 (steroidogenic factor-1), C/EBPbeta (CCAAT/enhancer binding protein), and ubiquitous transcription factors NF1 (nuclear factor 1) and Sp1 (selective promoter factor 1) are required for regulation of the mouse aldose reductase-like gene (AKR1B7) expression in adrenocortical cells. Aigueperse, C., Val, P., Pacot, C., Darne, C., Lalli, E., Sassone-Corsi, P., Veyssiere, G., Jean, C., Martinez, A. Mol. Endocrinol. (2001) [Pubmed]
  21. An autoregulatory loop controlling orphan nuclear receptor DAX-1 gene expression by orphan nuclear receptor ERRgamma. Park, Y.Y., Ahn, S.W., Kim, H.J., Kim, J.M., Lee, I.K., Kang, H., Choi, H.S. Nucleic Acids Res. (2005) [Pubmed]
  22. DAX-1 blocks steroid production at multiple levels. Lalli, E., Melner, M.H., Stocco, D.M., Sassone-Corsi, P. Endocrinology (1998) [Pubmed]
  23. Sex-determining genes in mice: building pathways. Lovell-Badge, R., Canning, C., Sekido, R. Novartis Found. Symp. (2002) [Pubmed]
  24. SOX8 is expressed during testis differentiation in mice and synergizes with SF1 to activate the Amh promoter in vitro. Schepers, G., Wilson, M., Wilhelm, D., Koopman, P. J. Biol. Chem. (2003) [Pubmed]
  25. Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1) gene transcription is regulated by wnt4 in the female developing gonad. Mizusaki, H., Kawabe, K., Mukai, T., Ariyoshi, E., Kasahara, M., Yoshioka, H., Swain, A., Morohashi, K. Mol. Endocrinol. (2003) [Pubmed]
  26. The LIM-only coactivator FHL2 modulates WT1 transcriptional activity during gonadal differentiation. Du, X., Hublitz, P., Günther, T., Wilhelm, D., Englert, C., Schüle, R. Biochim. Biophys. Acta (2002) [Pubmed]
  27. Transcriptional regulators of steroidogenesis, DAX-1 and SF-1, are expressed in human skin. Patel, M.V., McKay, I.A., Burrin, J.M. J. Invest. Dermatol. (2001) [Pubmed]
  28. Characterization of the mouse DAX-1 gene reveals evolutionary conservation of a unique amino-terminal motif and widespread expression in mouse tissue. Bae, D.S., Schaefer, M.L., Partan, B.W., Muglia, L. Endocrinology (1996) [Pubmed]
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