Gene Symbol: Nr0b1
Description: nuclear receptor subfamily 0, group B, member 1
Alias: AHX, Ahc, Ahch, DAX-1, Dax1, nuclear receptor subfamily 0 group B member 1, adrenal hypoplasia congenita-like protein, adrenal hypoplasia, congenital homolog, nuclear receptor DAX-1
Species: mouse
Products:     Nr0b1

Top Publications

  1. Swain A, Zanaria E, Hacker A, Lovell Badge R, Camerino G. Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Nat Genet. 1996;12:404-9 pubmed
    ..An unusual member of the nuclear hormone receptor superfamily, DAX1, maps to the DSS critical region and is responsible for X-linked adrenal hypoplasia congenita...
  2. Ikeda Y, Swain A, Weber T, Hentges K, Zanaria E, Lalli E, et al. Steroidogenic factor 1 and Dax-1 colocalize in multiple cell lineages: potential links in endocrine development. Mol Endocrinol. 1996;10:1261-72 pubmed
    ..Although the precise mechanisms remain to be established and may be multifactorial, our results strongly suggest that these two orphan nuclear receptors interact in a common pathway of endocrine development. ..
  3. Clipsham R, Niakan K, McCabe E. Nr0b1 and its network partners are expressed early in murine embryos prior to steroidogenic axis organogenesis. Gene Expr Patterns. 2004;4:3-14 pubmed
    Ahch is an orphan nuclear receptor encoded by Nr0b1 on the murine X chromosome and is the ortholog of human DAX1...
  4. Oka A, Mita A, Sakurai Yamatani N, Yamamoto H, Takagi N, Takano Shimizu T, et al. Hybrid breakdown caused by substitution of the X chromosome between two mouse subspecies. Genetics. 2004;166:913-24 pubmed
    ..This study revealed that incompatibility of interactions of X-linked gene(s) with autosomal and/or Y-linked gene(s) causes the hybrid breakdown between the genetically distant C57BL/6J and MSM/Ms strains. ..
  5. Moldrich R, Laine J, Visel A, Beart P, Laffaire J, Rossier J, et al. Transmembrane protein 50b (C21orf4), a candidate for Down syndrome neurophenotypes, encodes an intracellular membrane protein expressed in the rodent brain. Neuroscience. 2008;154:1255-66 pubmed publisher
    ..Results indicate that Tmem50b is a developmentally-regulated intracellular ER and Golgi apparatus membrane protein that may prove important for correct brain development through functions associated with precursor cells and glia. ..
  6. Sun C, Nakatake Y, Ura H, Akagi T, Niwa H, Koide H, et al. Stem cell-specific expression of Dax1 is conferred by STAT3 and Oct3/4 in embryonic stem cells. Biochem Biophys Res Commun. 2008;372:91-6 pubmed publisher
    ..An orphan nuclear receptor, Dax1, is specifically expressed in undifferentiated ES cells and plays an important role in their self-renewal...
  7. Yu R, Ito M, Saunders T, Camper S, Jameson J. Role of Ahch in gonadal development and gametogenesis. Nat Genet. 1998;20:353-7 pubmed
    Ahch (also known as Dax1) encodes a transcription factor that has been implicated in sex determination and gonadal differentiation...
  8. Uranishi K, Akagi T, Sun C, Koide H, Yokota T. Dax1 associates with Esrrb and regulates its function in embryonic stem cells. Mol Cell Biol. 2013;33:2056-66 pubmed publisher
    ..Nuclear hormone receptor Dax1 is one of the crucial factors in the network...
  9. Suzuki T, Kasahara M, Yoshioka H, Morohashi K, Umesono K. LXXLL-related motifs in Dax-1 have target specificity for the orphan nuclear receptors Ad4BP/SF-1 and LRH-1. Mol Cell Biol. 2003;23:238-49 pubmed
    ..Ad4BP/SF-1 (NR5A1) is a constitutive activator, and its activity is repressed by another orphan receptor, Dax-1 (NR0B1). In the present study, we investigated the molecular mechanisms underlying this repression by Dax-1...

More Information


  1. Katoh Fukui Y, Miyabayashi K, Komatsu T, Owaki A, Baba T, Shima Y, et al. Cbx2, a polycomb group gene, is required for Sry gene expression in mice. Endocrinology. 2012;153:913-24 pubmed publisher
    ..However, testes remained hypoplastic in these mice, indicating that the size and the sex of the gonad are determined by different sets of genes. Our study implicates Cbx2 in testis differentiation through regulating Sry gene expression. ..
  2. Kawabe K, Shikayama T, Tsuboi H, Oka S, Oba K, Yanase T, et al. Dax-1 as one of the target genes of Ad4BP/SF-1. Mol Endocrinol. 1999;13:1267-84 pubmed
    ..We investigated the upstream region of the mouse Dax-1 (also known as Ahch) gene and identified a novel Ad4/SF-1 site by transient transfection and electrophoretic mobility shift assays...
  3. Song K, Park Y, Park K, Hong C, Park J, Shong M, et al. The atypical orphan nuclear receptor DAX-1 interacts with orphan nuclear receptor Nur77 and represses its transactivation. Mol Endocrinol. 2004;18:1929-40 pubmed
    ..These results suggest that DAX-1 acts as a novel coregulator of the orphan nuclear receptor Nur77, and that the DAX-1 may play a key role in the regulation of Nur77-mediated steroidogenesis in testicular Leydig cells. ..
  4. Yu R, Ito M, Jameson J. The murine Dax-1 promoter is stimulated by SF-1 (steroidogenic factor-1) and inhibited by COUP-TF (chicken ovalbumin upstream promoter-transcription factor) via a composite nuclear receptor-regulatory element. Mol Endocrinol. 1998;12:1010-22 pubmed
    ..We propose that Dax-1 is stimulated by SF-1, and that SF-1 and COUP-TF provide antagonistic pathways that converge upon a common regulatory site. ..
  5. Swain A, Narvaez V, Burgoyne P, Camerino G, Lovell Badge R. Dax1 antagonizes Sry action in mammalian sex determination. Nature. 1998;391:761-7 pubmed
    b>DAX1, which encodes an unusual member of the nuclear hormone-receptor superfamily, is a gene that may be responsible for a sex-reversal syndrome in humans, referred to as dosage-sensitive sex reversal, in which XY individuals carrying ..
  6. Kelly V, Hammer G. LRH-1 and Nanog regulate Dax1 transcription in mouse embryonic stem cells. Mol Cell Endocrinol. 2011;332:116-24 pubmed publisher
    b>Dax1, an atypical orphan nuclear receptor expressed in steroidogenic tissues, has recently been shown to be expressed in mouse embryonic stem (mES) cells and is required for pluripotency...
  7. Sun C, Nakatake Y, Akagi T, Ura H, Matsuda T, Nishiyama A, et al. Dax1 binds to Oct3/4 and inhibits its transcriptional activity in embryonic stem cells. Mol Cell Biol. 2009;29:4574-83 pubmed publisher
    ..for a protein that would interact with Oct3/4 in ES cells and identified an orphan nuclear hormone receptor, Dax1. The association of Dax1 with Oct3/4 was mediated through the POU-specific domain of Oct3/4...
  8. Mizusaki H, Kawabe K, Mukai T, Ariyoshi E, Kasahara M, Yoshioka H, et al. 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. Mol Endocrinol. 2003;17:507-19 pubmed
    Dax-1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (NR0B1)] is an orphan nuclear receptor acting as a suppressor of Ad4 binding protein/steroidogenic factor 1 [Ad4BP/SF-1 (NR5A1)]..
  9. Khalfallah O, Rouleau M, Barbry P, Bardoni B, Lalli E. Dax-1 knockdown in mouse embryonic stem cells induces loss of pluripotency and multilineage differentiation. Stem Cells. 2009;27:1529-37 pubmed publisher
    Dax-1 (Nr0b1) is an orphan member of the nuclear hormone receptor superfamily that has a key role in adrenogonadal development and function...
  10. Park S, Meeks J, Raverot G, Pfaff L, Weiss J, Hammer G, et al. Nuclear receptors Sf1 and Dax1 function cooperatively to mediate somatic cell differentiation during testis development. Development. 2005;132:2415-23 pubmed
    Mutations of orphan nuclear receptors SF1 and DAX1 each cause adrenal insufficiency and gonadal dysgenesis in humans, although the pathological features are distinct...
  11. Nedumaran B, Kim G, Hong S, Yoon Y, Kim Y, Lee C, et al. Orphan nuclear receptor DAX-1 acts as a novel corepressor of liver X receptor alpha and inhibits hepatic lipogenesis. J Biol Chem. 2010;285:9221-32 pubmed publisher
    ..Overall, this study suggests that DAX-1, a novel corepressor of LXRalpha, functions as a negative regulator of lipogenic enzyme gene expression in liver. ..
  12. Chassot A, Ranc F, Gregoire E, Roepers Gajadien H, Taketo M, Camerino G, et al. Activation of beta-catenin signaling by Rspo1 controls differentiation of the mammalian ovary. Hum Mol Genet. 2008;17:1264-77 pubmed publisher
    ..Thus, a balance between Sox9 and beta-catenin activation determines the fate of the gonad, with Rspo1 acting as a crucial regulator of canonical beta-catenin signaling required for female development. ..
  13. Orekhova A, Rubtsov P. [DAX1-unusual member of nuclear receptors superfamily with diverse functions]. Mol Biol (Mosk). 2015;49:75-88 pubmed
    ..Ligand-activated NRs bind specific nucleotide sequences in target genes and induce their expression. DAX1 protein is an unusual member of NR superfamily that does not have ligand and lacks typical DNA-binding domain...
  14. Jeffs B, Ito M, Yu R, Martinson F, Wang Z, Doglio L, et al. Sertoli cell-specific rescue of fertility, but not testicular pathology, in Dax1 (Ahch)-deficient male mice. Endocrinology. 2001;142:2481-8 pubmed
    ..Our recent characterization of Dax1 (Ahch)-deficient male mice revealed a primary testicular defect resulting in hypogonadism and sterility...
  15. Uranishi K, Akagi T, Koide H, Yokota T. Esrrb directly binds to Gata6 promoter and regulates its expression with Dax1 and Ncoa3. Biochem Biophys Res Commun. 2016;478:1720-5 pubmed publisher
    ..Previously, we found that Dax1 is associated with Esrrb and represses its transcriptional activity...
  16. Teets B, Soprano K, Soprano D. Role of SF-1 and DAX-1 during differentiation of P19 cells by retinoic acid. J Cell Physiol. 2012;227:1501-11 pubmed publisher
    ..Taken together, these data demonstrate that SF-1 plays a dynamic role during the differentiation of P19 cells and potentially during early embryogenesis. ..
  17. Lalli E, Ohe K, Hindelang C, Sassone Corsi P. Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA. Mol Cell Biol. 2000;20:4910-21 pubmed
    The DAX-1 (NR0B1) gene encodes an unusual member of the nuclear hormone receptor superfamily which acts as a transcriptional repressor...
  18. Manna P, Dyson M, Jo Y, Stocco D. Role of dosage-sensitive sex reversal, adrenal hypoplasia congenita, critical region on the X chromosome, gene 1 in protein kinase A- and protein kinase C-mediated regulation of the steroidogenic acute regulatory protein expression in mouse Leydig tu. Endocrinology. 2009;150:187-99 pubmed publisher
    ..These findings provide insight into the molecular events by which DAX-1 influences the PKA and PKC signaling pathways involved in the regulation of the StAR protein and steroidogenesis in mouse Leydig tumor cells. ..
  19. Kelly V, Xu B, Kuick R, Koenig R, Hammer G. Dax1 up-regulates Oct4 expression in mouse embryonic stem cells via LRH-1 and SRA. Mol Endocrinol. 2010;24:2281-91 pubmed publisher
    Dax1 (Nr0b1) is an atypical orphan nuclear receptor that has recently been shown to play a role in mouse embryonic stem (mES) cell pluripotency. Here we describe a mechanism by which Dax1 maintains pluripotency...
  20. Eckey M, Tenbaum S, Munoz A, Baniahmad A. Mixed lineage kinase 2 enhances trans-repression of Alien and nuclear receptors. Mol Cell Endocrinol. 2003;213:71-8 pubmed
    ..This novel cross-talk may represent a link between MLK2-mediated signaling and transcriptional repression of target genes during neuronal differentiation processes. ..
  21. Ikeda Y, Tanaka H, Esaki M. Effects of gestational diethylstilbestrol treatment on male and female gonads during early embryonic development. Endocrinology. 2008;149:3970-9 pubmed publisher
    ..5. The results suggest that exogenous estrogens can alter sex-specific genetic pathways governing early differentiation and cell proliferation of both male and female gonads. ..
  22. Wang Z, Jeffs B, Ito M, Achermann J, Yu R, Hales D, et al. Aromatase (Cyp19) expression is up-regulated by targeted disruption of Dax1. Proc Natl Acad Sci U S A. 2001;98:7988-93 pubmed
    ..Mutations in the human DAX1 gene (also known as AHC) cause the X-linked syndrome AHC, a disorder that is associated with hypogonadotropic ..
  23. Mishra L, Tully R, Monga S, Yu P, Cai T, Makalowski W, et al. Praja1, a novel gene encoding a RING-H2 motif in mouse development. Oncogene. 1997;15:2361-8 pubmed
    ..This is strengthened by the similarity of Praja1 to rat Neurodap1, whose product has been shown to localize to the endoplasmic reticulum and golgi in brain. ..
  24. Gierl M, Gruhn W, von Seggern A, Maltry N, Niehrs C. GADD45G functions in male sex determination by promoting p38 signaling and Sry expression. Dev Cell. 2012;23:1032-42 pubmed publisher
    ..The results suggest that a signaling cascade, involving GADD45G ? p38 MAPK ? GATA4 ? SRY, regulates male sex determination...
  25. Stickels R, Clark K, Heider T, Mattiske D, Renfree M, Pask A. DAX1/NR0B1 was expressed during mammalian gonadal development and gametogenesis before it was recruited to the eutherian X chromosome. Biol Reprod. 2015;92:22 pubmed publisher
    The nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene is an orphan nuclear receptor that is X-linked in eutherian mammals and plays a critical role in the establishment and function of the hypothalamic-pituitary-adrenal-..
  26. Vesper A, Raetzman L, Camper S. Role of prophet of Pit1 (PROP1) in gonadotrope differentiation and puberty. Endocrinology. 2006;147:1654-63 pubmed
    ..obvious abnormalities in expression of the transcription factors early growth response 1, NR5A1, GATA2, TBX19, and NR0B1, or the TGFbeta pathway members including activin, inhibin, and activin receptors...
  27. Mukai T, Kusaka M, Kawabe K, Goto K, Nawata H, Fujieda K, et al. Sexually dimorphic expression of Dax-1 in the adrenal cortex. Genes Cells. 2002;7:717-29 pubmed
    ..Sexually dimorphic expression of Dax-1 (NR0B1) in the adrenal cortex was observed by RT-PCR, Western blotting and immunohistochemistry...
  28. Helguero L, Hedengran Faulds M, Förster C, Gustafsson J, Haldosén L. DAX-1 expression is regulated during mammary epithelial cell differentiation. Endocrinology. 2006;147:3249-59 pubmed
    ..Further studies are needed to determine whether DAX-1 is also important in regulation of differentiation of HC11 cells. ..
  29. Rudigier L, Dame C, Scholz H, Kirschner K. Ex vivo cultures combined with vivo-morpholino induced gene knockdown provide a system to assess the role of WT1 and GATA4 during gonad differentiation. PLoS ONE. 2017;12:e0176296 pubmed publisher
  30. Wang H, Arden K, Bermingham J, Viars C, Lin W, Boyer A, et al. Localization of serine kinases, SRPK1 (SFRSK1) and SRPK2 (SFRSK2), specific for the SR family of splicing factors in mouse and human chromosomes. Genomics. 1999;57:310-5 pubmed
    ..1 (a region of conserved synteny to mouse Chromosome 5). In addition, we also found multiple SRPK-related sequences on other human chromosomes, one of which appears to correspond to a SRPK2 pseudogene on human chromosome 8. ..
  31. Krylova I, Sablin E, Moore J, Xu R, Waitt G, MacKay J, et al. Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1. Cell. 2005;120:343-55 pubmed
    ..We propose that phospholipids regulate gene expression by directly binding to NR5A nuclear receptors. ..
  32. Kopp P. Targeted disruption of the Ahch (Dax-1) gene: knockout of old concepts. Eur J Endocrinol. 1999;140:291-2 pubmed
  33. Ahn S, Gang G, Kim Y, Ahn R, Harris R, Lee C, et al. Insulin directly regulates steroidogenesis via induction of the orphan nuclear receptor DAX-1 in testicular Leydig cells. J Biol Chem. 2013;288:15937-46 pubmed publisher
    ..These results represent a novel regulatory mechanism of steroidogenesis in Leydig cells. Insulin-mediated induction of DAX-1 in Leydig cells of testis may be a key regulatory step of serum sex hormone level in insulin-resistant states...
  34. Goodfellow P, Camerino G. DAX-1, an 'antitestis' gene. Cell Mol Life Sci. 1999;55:857-63 pubmed
    ..It has been shown to both repress transcriptional activators by direct protein-protein interactions and to bind DNA hairpin structures and repress target genes. ..
  35. Meeks J, Russell T, Jeffs B, Huhtaniemi I, Weiss J, Jameson J. Leydig cell-specific expression of DAX1 improves fertility of the Dax1-deficient mouse. Biol Reprod. 2003;69:154-60 pubmed
    b>Dax1 is an orphan nuclear receptor expressed in both Leydig and Sertoli cells of the testis. Mutation of DAX1 in humans causes adrenal failure and hypogonadotropic hypogonadism...
  36. Western P, Harry J, Marshall Graves J, Sinclair A. Temperature-dependent sex determination in the American alligator: expression of SF1, WT1 and DAX1 during gonadogenesis. Gene. 2000;241:223-32 pubmed
    ..The genes SF1, WT1 and DAX1 play various roles in the mammalian testis-determining pathway...
  37. Li Y, Luo M, Guo H, Wang T, Lin S, Chen J, et al. Identification of NR0B1 as a novel androgen receptor co-repressor in mouse Sertoli cells. Int J Mol Med. 2016;38:853-60 pubmed publisher
    Nuclear receptor subfamily 0 group B member 1 (Nr0b1) is an atypical member of the nuclear receptor family that is predominantly expressed in mouse Sertoli cells (SCs)...
  38. Sarraj M, Escalona R, Umbers A, Chua H, Small C, Griswold M, et al. Fetal testis dysgenesis and compromised Leydig cell function in Tgfbr3 (beta glycan) knockout mice. Biol Reprod. 2010;82:153-62 pubmed publisher
  39. Roberts L, Shen J, Ingraham H. New solutions to an ancient riddle: defining the differences between Adam and Eve. Am J Hum Genet. 1999;65:933-42 pubmed
  40. Nedumaran B, Hong S, Xie Y, Kim Y, Seo W, Lee M, et al. DAX-1 acts as a novel corepressor of orphan nuclear receptor HNF4alpha and negatively regulates gluconeogenic enzyme gene expression. J Biol Chem. 2009;284:27511-23 pubmed publisher
    ..Overall, this study demonstrates that DAX-1 acts as a corepressor of HNF4alpha to negatively regulate hepatic gluconeogenic gene expression in liver. ..
  41. Park S, Lee E, Emge D, Jahn C, Jameson J. A phenotypic spectrum of sexual development in Dax1 (Nr0b1)-deficient mice: consequence of the C57BL/6J strain on sex determination. Biol Reprod. 2008;79:1038-45 pubmed publisher
    Nuclear receptor subfamily 0, group B, member 1 (Nr0b1; hereafter referred to as Dax1) is an orphan nuclear receptor that regulates adrenal and gonadal development...
  42. Roy A, Matzuk M. Deconstructing mammalian reproduction: using knockouts to define fertility pathways. Reproduction. 2006;131:207-19 pubmed
    ..This review focuses on the merits, utility, and the variations of the knockout technology in studies of reproduction in mammals. ..
  43. Tsai W, Tung Y. Novel deletion mutations of the DAX1 (NR0B1) gene in two Taiwanese families with X-linked adrenal hypoplasia congenita. J Pediatr Endocrinol Metab. 2005;18:991-7 pubmed
    ..Two Taiwanese patients with adrenal hypoplasia congenita were detected to have novel mutations of the DAX1 (NR0B1) gene...
  44. Meeks J, Weiss J, Jameson J. Dax1 is required for testis determination. Nat Genet. 2003;34:32-3 pubmed
    The orphan nuclear receptor, Dax1, was originally proposed to act as an 'anti-testis' factor. We find, however, that Nr0b1 (also called Dax1 and Ahch, which encodes Dax1) is in fact required for testis differentiation.
  45. Xing Y, Morohashi K, Ingraham H, Hammer G. Timing of adrenal regression controlled by synergistic interaction between Sf1 SUMOylation and Dax1. Development. 2017;144:3798-3807 pubmed publisher
    ..identified to direct Sf1 expression exclusively in the fetal adrenal cortex and is bound by both Sf1 and Dax1. Here, we have examined the function of Sf1 SUMOylation and its interaction with Dax1 on FAdE function...
  46. Park Y, Ahn S, Kim H, Kim J, Lee I, Kang H, et al. An autoregulatory loop controlling orphan nuclear receptor DAX-1 gene expression by orphan nuclear receptor ERRgamma. Nucleic Acids Res. 2005;33:6756-68 pubmed
    ..We thus propose a novel autoregulatory loop that controls DAX-1 gene expression by ERRgamma. ..
  47. Xu B, Yang W, Gerin I, Hu C, Hammer G, Koenig R. Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis. Mol Cell Biol. 2009;29:1719-34 pubmed publisher
    ..These findings reveal novel functions of SRA and Dax-1 in steroidogenesis and adrenal biology. ..
  48. Pask A, Toder R, Wilcox S, Camerino G, Graves J. The candidate sex-reversing DAX1 gene is autosomal in marsupials: implications for the evolution of sex determination in mammals. Genomics. 1997;41:422-6 pubmed
    The human X-linked DAX1 gene was cloned from the region of the short arm of the human X found in duplicate in sex-reversed Xdup Y females (E. Zanaria et al., 1994, Nature 372: 635-641)...
  49. Parker K, Schimmer B. Ahch and the feminine mystique. Nat Genet. 1998;20:318-9 pubmed
  50. Zhang J, Liu G, Ruan Y, Wang J, Zhao K, Wan Y, et al. Dax1 and Nanog act in parallel to stabilize mouse embryonic stem cells and induced pluripotency. Nat Commun. 2014;5:5042 pubmed publisher
    ..Here we report that Dax1 acts in parallel with Nanog to regulate mouse ESC (mESCs) identity...
  51. Hammes A, Guo J, Lutsch G, Leheste J, Landrock D, Ziegler U, et al. Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation. Cell. 2001;106:319-29 pubmed
    ..Our data demonstrate distinct functions for the two splice variants and place the +KTS variants as important regulators for Sry in the sex determination pathway. ..
  52. Hutchins A, Choo S, Mistri T, Rahmani M, Woon C, Ng C, et al. Co-motif discovery identifies an Esrrb-Sox2-DNA ternary complex as a mediator of transcriptional differences between mouse embryonic and epiblast stem cells. Stem Cells. 2013;31:269-81 pubmed publisher
    ..Esrrb-Sox2 target gene, containing an esrrb-sox element conserved throughout eutherian and metatherian mammals, is Nr0b1. Through positive regulation of this transcriptional repressor, we argue the Esrrb-Sox2 complex promotes the ESC ..
  53. Niakan K, Davis E, Clipsham R, Jiang M, Dehart D, Sulik K, et al. Novel role for the orphan nuclear receptor Dax1 in embryogenesis, different from steroidogenesis. Mol Genet Metab. 2006;88:261-71 pubmed
    Cytomegalic adrenal hypoplasia congenita (AHC) is an X-linked disease caused by mutations in DAX1-encoding gene NR0B1, previously thought to function primarily in steroidogenesis...
  54. Guo W, Lovell R, Zhang Y, Huang B, Burris T, Craigen W, et al. Ahch, the mouse homologue of DAX1: cloning, characterization and synteny with GyK, the glycerol kinase locus. Gene. 1996;178:31-4 pubmed
    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 ..
  55. Freedman B, Kempna P, Carlone D, Shah M, Guagliardo N, Barrett P, et al. Adrenocortical zonation results from lineage conversion of differentiated zona glomerulosa cells. Dev Cell. 2013;26:666-673 pubmed publisher
    ..These findings demonstrate that adrenocortical zonation and regeneration result from lineage conversion and may provide a paradigm for homeostatic cellular renewal in other tissues. ..
  56. Meeks J, Crawford S, Russell T, Morohashi K, Weiss J, Jameson J. Dax1 regulates testis cord organization during gonadal differentiation. Development. 2003;130:1029-36 pubmed
    Mutations of the DAX1 nuclear receptor gene cause adrenal hypoplasia congenita, an X-linked disorder characterized by adrenal insufficiency and hypogonadotropic hypogonadism...
  57. Ludbrook L, Bernard P, Bagheri Fam S, Ryan J, Sekido R, Wilhelm D, et al. Excess DAX1 leads to XY ovotesticular disorder of sex development (DSD) in mice by inhibiting steroidogenic factor-1 (SF1) activation of the testis enhancer of SRY-box-9 (Sox9). Endocrinology. 2012;153:1948-58 pubmed publisher
    Human DAX1 duplications cause dosage-sensitive sex reversal (DSS) whereby chromosomally XY individuals can develop as females due to gonadal dysgenesis...
  58. Jeffs B, Meeks J, Ito M, Martinson F, Matzuk M, Jameson J, et al. Blockage of the rete testis and efferent ductules by ectopic Sertoli and Leydig cells causes infertility in Dax1-deficient male mice. Endocrinology. 2001;142:4486-95 pubmed
    ..b>Dax1-deficient male mice are infertile and have small testes despite normal serum levels of T and gonadotropins...
  59. Bae D, Schaefer M, Partan B, Muglia L. Characterization of the mouse DAX-1 gene reveals evolutionary conservation of a unique amino-terminal motif and widespread expression in mouse tissue. Endocrinology. 1996;137:3921-7 pubmed
    ..Future studies using mouse models of altered DAX-1 expression will be critical in defining the role of this factor in tissue- and development-specific gene regulation. ..
  60. Hoyle C, Narvaez V, Alldus G, Lovell Badge R, Swain A. Dax1 expression is dependent on steroidogenic factor 1 in the developing gonad. Mol Endocrinol. 2002;16:747-56 pubmed
    The nuclear hormone receptor DAX1 has been implicated in mammalian gonad development and sex determination. The expression of the gene in the gonad follows a dynamic pattern in time and place in the embryo and the adult...
  61. Schmahl J, Capel B. Cell proliferation is necessary for the determination of male fate in the gonad. Dev Biol. 2003;258:264-76 pubmed
    ..We believe these studies suggest that proliferation is involved not only in the elaboration of organ pattern, but also in the choice between patterns (male and female) in the bipotential gonad. ..
  62. Kawajiri K, Ikuta T, Suzuki T, Kusaka M, Muramatsu M, Fujieda K, et al. 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). Mol Endocrinol. 2003;17:994-1004 pubmed
    Dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (Dax-1, NR0B1) is an orphan nuclear receptor that represses transcription by Ad4 binding protein/steroidogenic factor 1 (Ad4BP/SF-1, ..
  63. Fujii S, Nishikawa Torikai S, Futatsugi Y, Toyooka Y, Yamane M, Ohtsuka S, et al. Nr0b1 is a negative regulator of Zscan4c in mouse embryonic stem cells. Sci Rep. 2015;5:9146 pubmed publisher
    Nuclear receptor subfamily 0, group B, member 1 (Nr0b1, also known as Dax1) is regarded as an important component of the transcription factor network that governs pluripotency in mouse embryonic stem (ES) cells...
  64. Martin L, Tremblay J. Nuclear receptors in Leydig cell gene expression and function. Biol Reprod. 2010;83:3-14 pubmed publisher
    ..This review provides an overview of the nuclear receptor family of transcription factors as they relate to Leydig cell gene expression and function. ..
  65. Pihlajoki M, Gretzinger E, Cochran R, Kyrönlahti A, Schrade A, Hiller T, et al. Conditional mutagenesis of Gata6 in SF1-positive cells causes gonadal-like differentiation in the adrenal cortex of mice. Endocrinology. 2013;154:1754-67 pubmed publisher
    ..Our findings offer genetic proof that GATA6 regulates the differentiation of steroidogenic progenitors into adrenocortical cells. ..
  66. Scheys J, Heaton J, Hammer G. Evidence of adrenal failure in aging Dax1-deficient mice. Endocrinology. 2011;152:3430-9 pubmed publisher
    Dosage-sensitive sex reversal, adrenal hypoplasia congenita (AHC) critical region on the X chromosome, gene 1 (Dax1) is an orphan nuclear receptor essential for development and function of the mammalian adrenal cortex and gonads...
  67. Patel M, Dorman K, Zhang Y, Huang B, Arnold A, Sinsheimer J, et al. Primate DAX1, SRY, and SOX9: evolutionary stratification of sex-determination pathway. Am J Hum Genet. 2001;68:275-80 pubmed
    The molecular evolution of DAX1, SRY, and SOX9, genes involved in mammalian sex determination, was examined in six primate species...
  68. Birk O, Casiano D, Wassif C, Cogliati T, Zhao L, Zhao Y, et al. The LIM homeobox gene Lhx9 is essential for mouse gonad formation. Nature. 2000;403:909-13 pubmed
    ..Unlike mice lacking other genes that mediate early stages of gonadogenesis, Lhx9 mutants do not exhibit additional major developmental defects. Thus, LHX9 mutations may underlie certain forms of isolated gonadal agenesis in humans. ..
  69. Combes A, Bowles J, Feng C, Chiu H, Khoo P, Jackson A, et al. Expression and functional analysis of Dkk1 during early gonadal development. Sex Dev. 2011;5:124-30 pubmed publisher
    ..Nor did we find significant differences in expression of key markers of testis and ovarian development. We propose that DKK1 may play a protective role that is not unmasked by loss-of-function in the absence of other stressors. ..
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