NR0B1A: An alternatively spliced form of NR0B1

Molecular Genetics and Metabolism

Volumn 83, Issue 4, 2004, Pages 330-336

  Ho, John ^a   Zhang, Yao Hua ^a   Huang, Bing Ling ^a   McCabe, Edward R B ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Adrenal hypoplasia congenita; Alternative splicing; DAX1; DAX1A; Isoforms; NR0B1; NR0B1A; Nuclear receptors

Indexed keywords

COMPLEMENTARY DNA; ISOPROTEIN; NUCLEAR RECEPTOR DAX 1; NUCLEAR RECEPTOR DAX 1A; UNCLASSIFIED DRUG;

ADRENAL GLAND; ALTERNATIVE RNA SPLICING; AMINO ACID COMPOSITION; AMINO ACID SEQUENCE; ARTICLE; DNA SEQUENCE; EXON; EXPRESSED SEQUENCE TAG; GENE; GENE EXPRESSION; GENE IDENTIFICATION; INTRON; NR0B1 GENE; OVARY; PANCREAS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; TESTIS;

EID: 13844318864     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.10.002     Document Type: Article

References (33)

1. E.R. McCabe Adrenal hypoplasias and aplasias C.R. Scriver A.L. Beaudet W.S. Sly D. Valle B. Childs B. Vogelstein The Metabolic and Molecular Bases of Inherited Disease 2001 McGraw-Hill New York 4263 4274
2. R.L. Habiby, P. Boepple, L. Nachtigall, P.M. Sluss, W.F. Crowley Jr., and J.L. Jameson Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production J. Clin. Invest. 98 1996 1055 1062
3. E. Zanaria, F. Muscatelli, B. Bardoni, T.M. Strom, S. Guioli, W. Guo, E. Lalli, C. Moser, A.P. Walker, E.R. McCabe, and M. Fraccaro An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita Nature 372 1994 635 641
4. F. Muscatelli, T.M. Strom, A.P. Walker, E. Zanaria, D. Recan, A. Meindl, B. Bardoni, S. Guioli, G. Zehetner, and W. Rabl Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism Nature 372 1994 672 676
5. W. Guo, J.S. Mason, C.G. Stone, S.I. Morgan, A. Madu, E.A. Baldini, L.G. Lindsay, K.C. Biesecker, K.C. Copeland, M.N. Horlick, A.L. Pettigrew, E. Zanaria, and E.R. McCabe Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene J. Am. Med. Assoc. 274 1995 324 330
6. R. Clipsham, and E.R. McCabe DAX1 and its network partners: exploring complexity in development Mol. Genet. Metab. 80 2003 81 120
7. J.C. Achermann, W.X. Gu, T.J. Kotlar, J.J. Meeks, L.P. Sabacan, S.B. Seminara, R.L. Habiby, P.C. Hindmarsh, D.P. Bick, R.J. Sherins, W.F. Crowley Jr., L.C. Layman, and J.L. Jameson Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay J. Clin. Endocrinol. Metab. 84 1999 4497 4500
8. K.Y. Loke, K.S. Poh, A.P. Walker, J.A. Tan, and A.H. Tay An atypical kindred with X-linked adrenal hypoplasia congenita, normal puberty, and normal Dax-1 promoter and coding sequence J. Pediatr. Endocrinol. Metab. 13 2000 29 36
9. B. Bardoni, E. Zanaria, S. Guioli, G. Floridia, K.C. Worley, G. Tonini, E. Ferrante, G. Chiumello, E.R. McCabe, and M. Fraccaro A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal Nat. Genet. 7 1994 497 501
10. A. Swain, V. Narvaez, P. Burgoyne, G. Camerino, and R. Lovell-Badge Dax1 antagonizes Sry action in mammalian sex determination Nature 391 1998 761 767
11. W. Guo, T.P. Burris, Y.H. Zhang, B.L. Huang, J. Mason, K.C. Copeland, S.R. Kupfer, R.A. Pagon, and E.R. McCabe Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism J. Clin. Endocrinol. Metab. 81 1996 2481 2486
12. Z. Zhang, P.E. Burch, A.J. Cooney, R.B. Lanz, F.A. Pereira, J. Wu, R.A. Gibbs, G. Weinstock, and D.A. Wheeler Genomic analysis of the nuclear receptor family: new insights into structure, regulation, and evolution from the rat genome Genome Res. 14 2004 580 590
13. R. Clipsham, K. Niakan, and E.R. McCabe Nr0b1 and its network partners are expressed early in murine embryos prior to steroidogenic axis organogenesis Gene Expr. Patterns 4 2004 3 14
14. W. Guo, T.P. Burris, and E.R. McCabe Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis Biochem. Mol. Med. 56 1995 8 13
15. J. Billiard, R.A. Moran, M.Z. Whitley, M. Chatterjee-Kishore, K. Gillis, E.L. Brown, B.S. Komm, and P.V. Bodine Transcriptional profiling of human osteoblast differentiation J. Cell. Biochem. 89 2003 389 400
16. F. Wianny, C. Perreau, and M.T. Hochereau de Reviers Proliferation and differentiation of porcine inner cell mass and epiblast in vitro Biol. Reprod. 57 1997 756 764
17. M.V. Patel, I.A. McKay, and J.M. Burrin Transcriptional regulators of steroidogenesis, DAX-1 and SF-1, are expressed in human skin J. Invest. Dermatol. 117 2001 1559 1565
18. E. Lalli, K. Ohe, C. Hindelang, and P. Sassone-Corsi Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA Mol. Cell. Biol. 20 2000 4910 4921
19. E. Lalli, and P. Sassone-Corsi DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation Mol. Endocrinol. 17 2003 1445 1453
20. E. Lalli, M.H. Melner, D.M. Stocco, and P. Sassone-Corsi DAX-1 blocks steroid production at multiple levels Endocrinology 139 1998 4237 4243
21. A. Iyer, and E.R. McCabe Molecular mechanisms of DAX1 action Mol. Genet. Metab. 83 2004 60 73
22. J.K. Phelan, and E.R. McCabe Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita Hum. Mutat. 18 2001 472 487
23. Y.H. Zhang, W. Guo, R.L. Wagner, B.L. Huang, L. McCabe, E. Vilain, T.P. Burris, K. Anyane-Yeboa, A.H. Burghes, D. Chitayat, A.E. Chudley, M. Genel, J.M. Gertner, G.J. Klingensmith, S.N. Levine, J. Nakamoto, M.I. New, R.A. Pagon, J.G. Pappas, C.A. Quigley, I.M. Rosenthal, J.D. Baxter, R.J. Fletterick, and E.R. McCabe DAX1 mutations map to putative structural domains in a deduced three-dimensional model Am. J. Hum. Genet. 62 1998 855 864
24. Y.H. Zhang, B.L. Huang, K. Anyane-Yeboa, J.A. Carvalho, R.D. Clemons, T. Cole, B.C. De Figueiredo, M. Lubinsky, D.L. Metzger, R. Quadrelli, D.R. Repaske, S. Reyno, L.H. Seaver, A. Vaglio, G. Van Vliet, L.L. McCabe, E.R. McCabe, and J.K. Phelan Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita Hum. Mutat. 18 2001 547
25. S.G. Lehmann, J.M. Wurtz, J.P. Renaud, P. Sassone-Corsi, and E. Lalli Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients Hum. Mol. Genet. 12 2003 1063 1072
26. H. Zhang, J.S. Thomsen, L. Johansson, J.A. Gustafsson, and E. Treuter DAX-1 functions as an LXXLL-containing corepressor for activated estrogen receptors J. Biol. Chem. 275 2000 39855 39859
27. A. Hossain, C. Li, and G.F. Saunders Generation of two distinct functional isoforms of dosage-sensitive sex reversal-adrenal hypoplasia congenita-critical region on the X chromosome gene 1 (DAX-1) by alternative splicing Mol. Endocrinol. 18 2004 1428 1437
28. K.M. McCabe, Y.H. Zhang, B.L. Huang, E.A. Wagar, and E.R. McCabe Bacterial species identification after DNA amplification with a universal primer pair Mol. Genet. Metab. 66 1999 205 211
29. M. Abd-Elaziz, J. Akahira, T. Moriya, T. Suzuki, N. Yaegashi, and H. Sasano Nuclear receptor DAX-1 in human common epithelial ovarian carcinoma: an independent prognostic factor of clinical outcome Cancer Sci. 94 2003 980 985
30. I. Conde, J.M. Alfaro, B. Fraile, A. Ruiz, R. Paniagua, and M.I. Arenas DAX-1 expression in human breast cancer: comparison with estrogen receptors ER-alpha, ER-beta and androgen receptor status Breast Cancer Res. 6 2004 R140 148
31. E. Lalli, B. Bardoni, E. Zazopoulos, J.M. Wurtz, T.M. Strom, D. Moras, and P. Sassone-Corsi A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita Mol. Endocrinol. 11 1997 1950 1960
32. V. Giguere Orphan nuclear receptors: from gene to function Endocr. Rev. 20 1999 689 725
33. R.N. Yu, M. Ito, T.L. Saunders, S.A. Camper, and J.L. Jameson Role of Ahch in gonadal development and gametogenesis Nat. Genet. 20 1998 353 357