DAX1 mutations map to putative structural domains in a deduced three- dimensional model

American Journal of Human Genetics

Volumn 62, Issue 4, 1998, Pages 855-864

  Zhang, Yao Hua ^a   Guo, Weiwen ^a   Wagner, Richard L ^b   Huang, Bing Ling ^a   McCabe, Linda ^a   Vilain, Eric ^a   Burris, Thomas P ^a   Anyane Yeboa, Kwame ^c   Burghes, Arthur H M ^f   Chitayat, David ^g   Chudley, Albert E ^h   Genel, Myron ⁱ   Gertner, Joseph M ^d   Klingensmith, Georgeanna J ^j   Levine, Steven N ^k   Nakamoto, Jon ^a   New, Maria I ^d   Pagon, Roberta A ^l   Pappas, John G ^e   Quigley, Charmian A ^m   Rosenthal, Ira M ⁿ   Baxter, John D ^b   Fletterick, Robert J ^b   McCabe, Edward R B ^a   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c New York Presbyterian Hospital Columbia University Medical Center   (United States)

^d Department of Obstetrics Gynecology   (United States)

^e BETH ISRAEL MEDICAL CENTER   (United States)

^f OHIO STATE UNIVERSITY   (United States)

^g HOSPITAL FOR SICK CHILDREN   (Canada)

^h UNIVERSITY OF MANITOBA   (Canada)

ⁱ YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF COLORADO   (United States)

^k LOUISIANA STATE UNIVERSITY   (United States)

^l SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^m INDIANA UNIVERSITY   (United States)

ⁿ UNIVERSITY OF CHICAGO   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HORMONE RECEPTOR; RETINOID X RECEPTOR; THYROID HORMONE RECEPTOR;

ADRENAL GLAND MALFORMATION; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FRAMESHIFT MUTATION; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN QUATERNARY STRUCTURE;

EID: 17344363194     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301782     Document Type: Article

References (47)

1. Bourguet W, Ruff M, Chambon P, Gronemeyer H, Moras D (1995) Crystal structure of the ligand-binding domain of the human nuclear receptor RXR-α. Nature 375:377-382
2. Bovet P, Reymond MJ, Rey F, Gomez F (1988) Lack of gonadotropic response to pulsatile gonadotropic-releasing hormone in isolated hypogonadotropic hypogonadism associated with congenital adrenal hypoplasia. J Endocrinol Invest 11:201-204
3. Burris TP, Guo W, Le T, McCabe ERB (1995) Identification of a putative steroidogenic factor-1 response element in the DAX-1 promoter. Biochem Biophys Res Commun 214: 576-581
4. Burris TP, Guo W, McCabe ERB (1996) The gene responsible for adrenal hypoplasia congenita, DAX1, encodes a nuclear hormone receptor that defines a new class within the superfamily. In: Conn PM (ed) Recent progress in hormone research. Endocrine Society, Bethesda, pp 241-260
5. Epstein CJ (1995) The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects. Proc Natl Acad Sci USA 92:8566-8573
6. Fawell SE, Lees JA, White R, Parker M (1990) Characterization and colocalization of steroid binding and dimerization activities in the mouse estrogen receptor. Cell 60: 953-962
7. Golden MP, Lippe BM, Kaplan SA (1977) Congenital adrenal hypoplasia and hypogonadotropic hypogonadism. Am J Dis Child 131:1117-1118
8. Gordon D, Cohen HN, Beastall GH, Hay ID, Thomson JA (1984) Contrasting effects of subcutaneous pulsatile GnRH therapy in congenital adrenal hypoplasia and Kallmann's syndrome. Clin Endocrinol (Oxf) 21:597-603
9. Guo W, Burris TP, McCabe ERB (1995a) Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalmic-pituitary-adrenal/gonadal axis. Biochem Mol Med 56:8-13
10. Guo W, Burris TP, Zhang Y-H, Huang B-L, Mason J, Copeland KC, Kupfer SR, et al (1996a) Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. J Clin Endocrinol Metab 81:2481-2486
11. Guo W, Lovell RS, Zhang Y-H, Huang B-L, Burris TP, Craigen WJ, McCabe ERB (1996b) Ahch, the mouse homologue of DAX1: cloning, characterization and synteny with GyK, the glycerol kinase locus. Gene 178:31-34
12. Guo W, Mason JS, Stone CG, Morgan SA, Madu SI, Baldini A, Lindsay EA, et al (1995b) Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX-1 gene. JAMA 274:324-330
13. Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley WF Jr, Jameson JL (1996) Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production. J Clin Invest 98:1055-1062
14. Hay ID, Smail PJ, Forsyth CC (1981) Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure. Arch Dis Child 56:715-721
15. Ikeda Y, Swain A, Weber TJ, Hentges KE, Zanaria E, Lalli E, Tamai KT, et al (1996) Steroidogenic factor 1 and Dax-1 colocalize in multiple cell lineages: potential links in endocrine development. Mol Endocrinol 10:1261-1272
16. Ito M, Yu R, Jameson JL (1997) DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita. Mol Cell Biol 17: 1476-1483
17. Kikuchi K, Kaji M, Momoi T, Mikawa H, Shigematsu Y, Sudo M (1987) Failure to induce puberty in a man with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism by pulsatile administration of low-dose gonadotropin-releasing hormone. Acta Endocrinologica 114: 153-160
18. Kletter GB, Gorski JL, Kelch RP (1991) Congenital adrenal hypoplasia and isolated gonadotropin deficiency. Trends Endocrinol Metab 2:123-128
19. Kruse K, Sippell WG, Schnakenburg KV (1984) Hypogonadism in congenital adrenal hypoplasia: evidence for a hypothalamic origin. J Clin Endocrinol Metab 58:12-17
20. Marsden HB, Zakhour HD (1978) Cytomegalic adrenal hypoplasia with pituitary cytomegaly. Virchows Arch A Pathol Anat Histopathol 378:105-110
21. Martin MM, Martin ALA (1985) The syndrome of congenital hereditary adrenal hypoplasia and hypogonadotropic hypogonadism. Int J Adolesc Med Health 1:119-137
22. McCabe ERB (1995) Disorders of glycerol metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 7th ed. McGraw-Hill, New York, pp 1631-1652
23. McCabe ERB (1996) Sex and the single DAXl: too little is bad, but can we have too much? J Clin Invest 98:881-882
24. Mumm S, Whyte MP, Thakker RV, Buetow KH, Schlessinger D (1997) mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation. Am J Hum Genet 60:153-159
25. Muscatelli F, Strom TM, Walker AP, Zanaria E, Recan D, Meindl A, Bardoni B, et al (1994) Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 372: 672-676
26. Nakae J, Tajima T, Kusuda S, Kohda N, Okabe T, Shinohara N, Kato M, et al (1996) Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab 81:3680-3685
27. O'Donnell AL, Rosen ED, Darling DS, Koenig KJ (1991) Thyroid hormone receptor mutations that interfere with transcriptional activation also interfere with receptor interaction with a nuclear protein. Mol Endocrinol 5:94-99
28. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770
29. Partsch C-J, Sippell WG (1989) Hypothalamic hypogonadism in congenital adrenal hypoplasia. Horm Metab Res 21: 623-625
30. Prader A, Zachman M, Illig R (1975) Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia. J Pediatr 86:421-422
31. Ribeiro RC, Kushner PJ, Baxter JD (1995) The nuclear hormone receptor gene superfamily. Annu Rev Med 46: 443-453
32. Rost B, Sander C (1994) Combining evolutionary information and neural networks to predict protein secondary structure. Proteins 19:55-72
33. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74: 5463-5467
34. Schwartz M, Blichfeldt S, Muller J (1997) X-linked adrenal hypoplasia in a Greenlandic family: detection of a missense mutation (N440I) in the DAX-1 genes: implication for genetic counseling and carrier diagnosis. Hum Genet 99:83-87
35. Seltzer WK, Firminger H, Klein J, Pike A, Fennessey P, McCabe ERB (1985) Adrenal dysfunction in glycerol kinase deficiency. Biochem Med 33:189-199
36. Seol W, Choi H-S, Moore DD (1996) An orphan nuclear hormone receptor that lacks a DNA binding domain and heterodimerizes with other receptors. Science 272:1336-1339
37. Swain E, Zanaria E, Hacker A, Lovell-Badge R, Camerino G (1996) Mouse DAX1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Nat Genet 12:404-409
38. Takahashi T, Yutaka S, Shoji Y, Haraguchi N, Takahashi I, Takada G (1997) Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. J Pediatr 130:485-488
39. Tsai MJ, O'Malley BW (1994) Molecular mechanisms of action of steroid/thyroid receptor superfamily members. Annu Rev Biochem 63:451-486
40. Vilain E, Guo W, Zhang Y-H, McCabe ERB (1997) DAX1 gene expression upregulated by steroidogenic factor 1 in an adrenocortical carcinoma cell line. Biochem Mol Med 61: 1-8
41. Virdis R, Levine LS, Levy D, Pang S, Rapaport R, New MI (1983) Congenital adrenal hypoplasia: two new cases. J Endocrinol Invest 6:51-54
42. Wagner RL, Apriletti JW, McGrath ME, West BL, Baxter JD, Fletterick RJ (1995) A structural role for hormone in the thyroid hormone receptor. Nature 378:690-697
43. Wurtz JM, Bourguet W, Renaud JP, Vivat V, Chambon P, Moras D, Gronemeyer H (1996) A canonical structure for the ligand-binding domain of nuclear receptors. Nat Struct Biol 3:87-94
44. Yanase T, Takayanagi R, Oba K, Nisiji Y, Ohe K, Nawata H (1996) New mutations of DAX1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. J Clin Endocrinol Metab 81:530-535
45. Yu RN, Ito M, Jameson JL (1996) Transcriptional regulation of the mouse DAX1 promotor by steroidogenic factor-1. Paper presented at the 10th International Congress on Endocrinology, San Francisco, June 12-15
46. Zachmann M, Illig R, Prader A (1980) Gonadotropin deficiency and cryptorchidism in three prepubertal brothers with congenital adrenal hypoplasia. J Pediatr 97:255-257
47. Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Guo W, Lalli E, et al (1994) A novel and unusual member of the nuclear hormone receptor superfamily is responsible for X-linked adrenal hypoplasia congenita. Nature 372:635-641