Evidence of adrenal failure in aging Dax1-deficient mice

Endocrinology

Volumn 152, Issue 9, 2011, Pages 3430-3439

  Scheys, Joshua O ^a,b   Heaton, Joanne H ^a   Hammer, Gary D ^a,b  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR RECEPTOR DAX 1;

ADRENAL CELL; ADRENAL DISEASE; ADRENAL GLAND; ADRENAL INSUFFICIENCY; AGING; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL PROLIFERATION; CONTROLLED STUDY; DISORDERS OF STEROID METABOLISM; DYSPLASIA; FEMALE; GROWTH RETARDATION; HORMONE INHIBITION; HORMONE SENSITIVITY; MALE; MOUSE; NONHUMAN; ORGAN GROWTH; PRIORITY JOURNAL; STEROIDOGENESIS;

ADRENAL GLANDS; ADRENAL INSUFFICIENCY; ADRENOCORTICOTROPIC HORMONE; AGING; ANIMALS; CORTICOSTERONE; DAX-1 ORPHAN NUCLEAR RECEPTOR; HYPOTHALAMO-HYPOPHYSEAL SYSTEM; MICE; MICE, KNOCKOUT; PITUITARY-ADRENAL SYSTEM;

EID: 80052503783     PISSN: 00137227     EISSN: 19457170     Source Type: Journal    
DOI: 10.1210/en.2010-0986     Document Type: Article

References (58)

1. Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Guo W, Lalli E, Moser C, Walker AP, McCabe ER 1994 An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 372:635-641
2. Guo W, Burris TP, Zhang YH, Huang BL, Mason J, Copeland KC, Kupfer SR, Pagon RA, McCabe ER 1996 Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-inked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. J Clin Endocrinol Metab 81:2481-2486 (Pubitemid 26240264)
3. Muscatelli F, Strom TM, Walker AP, Zanaria E, Récan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W 1994 Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 372:672-676
4. 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 (Pubitemid 27097377)
5. Lalli E, Bardoni B, Zazopoulos E, Wurtz JM, Strom TM, Moras D, Sassone-Corsi P 1997 A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. Mol Endocrinol 11:1950-1960 (Pubitemid 27524878)
6. Ikeda Y, Takeda Y, Shikayama T, Mukai T, Hisano S, Morohashi KI 2001 Comparative localization of Dax-1 and Ad4BP/SF-1 during development of the hypothalamic-pituitary-gonadal axis suggests their closely related and distinct functions. Dev Dyn 220:363-376 (Pubitemid 32246842)
7. Val P, Lefrançois-Martinez AM, Veyssière G, Martinez A 2003 SF-1 a key player in the development and differentiation of steroidogenic tissues. Nucl Recept 1:8
8. Crawford PA, Dorn C, Sadovsky Y, Milbrandt J 1998 Nuclear receptor DAX-1 recruits nuclear receptor corepressor N-CoR to steroidogenic factor 1. Mol Cell Biol 18:2949-2956 (Pubitemid 28183464)
9. Altincicek B, Tenbaum SP, Dressel U, Thormeyer D, Renkawitz R, Baniahmad A 2000 Interaction of the corepressor Alien with DAX-1 is abrogated by mutations of DAX-1 involved in adrenal hypoplasia congenita. J Biol Chem 275:7662-7667 (Pubitemid 30159668)
10. Suzuki T, Kasahara M, Yoshioka H, Morohashi K, Umesono K 2003 LXXLL-related motifs in Dax-1 have target specificity for the orphan nuclear receptors Ad4BP/SF-1 and LRH-1. Mol Cell Biol 23:238-249
11. Zazopoulos E, Lalli E, Stocco DM, Sassone-Corsi P 1997 DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis. Nature 390:311-315 (Pubitemid 27513317)
12. Lalli E, Ohe K, Hindelang C, Sassone-Corsi P 2000 Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA. Mol Cell Biol 20:4910-4921 (Pubitemid 30396137)
13. Ohe K, Tamai KT, Parvinen M, Sassone-Corsi P 2009 DAX-1 and SOX6 molecular interplay results in an antagonistic effect in pre-mRNA splicing. Dev Dyn 238:1595-1604
14. Reutens AT, Achermann JC, Ito M, Gu WX, Habiby RL, Donohoue PA, Pang S, Hindmarsh PC, Jameson JL 1999 Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J Clin Endocrinol Metab 84:504-511 (Pubitemid 29075676)
15. Hay ID, Smail PJ, Forsyth CC 1981 Familial cytomegalic adrenocortical hypoplasia: An X-linked syndrome of pubertal failure. Arch Dis Child 56:715-721 (Pubitemid 11030111)
16. Landau Z, Hanukoglu A, Sack J, Goldstein N, Weintrob N, Eliakim A, Gillis D, Sagi M, Shomrat R, Kosinovsky EB, Anikster Y 2009 Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations. Clin Endocrinol 72:448-454
17. Domenice S, Latronico AC, Brito VN, Arnhold IJ, Kok F, Mendonca BB 2001 Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX 1 gene. J Clin Endocrinol Metab 86:4068-4071 (Pubitemid 32848514)
18. Bernard P, Ludbrook L, Queipo G, Dinulos M-B, Kletter GB, Zhang Y-H, Phelan JK, McCabe ERB, Harley VR, Vilain E 2006 A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female. Mol Gen Metab 88:272-279 (Pubitemid 43983068)
19. Seminara SB, Achermann JC, Genel M, Jameson JL, Crowley Jr WF 1999 X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab 84:4501-4509
20. Shaikh MG, Boyes L, Kingston H, Collins R, Besley GT, Padmakumar B, Ismayl O, Hughes I, Hall CM, Hellerud C, Achermann JC, Clayton PE 2008 Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita. J Med Genet 45:e1-e1
21. Tabarin A, Achermann JC, Recan D, Bex V, Bertagna X, Christin-Maitre S, Ito M, Jameson JL, Bouchard P 2000 A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. J Clin Invest 105:321-328 (Pubitemid 30094452)
22. Mantovani G, Ozisik G, Achermann JC, Romoli R, Borretta G, Persani L, Spada A, Jameson JL, Beck-Peccoz P 2002 Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab 87:44-48 (Pubitemid 34084669)
23. Ozisik G, Mantovani G, Achermann JC, Persani L, Spada A, Weiss J, Beck-Peccoz P, Jameson JL 2003 An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab 88:417-423 (Pubitemid 36115197)
24. Calliari LE, Longui CA, Rocha MN, Faria CD, Kochi C, Melo MR, Melo MB, Monte O 2007 A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita. Genet Mol Res 6:177-183
25. Peter M, Viemann M, Partsch CJ, Sippell WG 1998 Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene. J Clin Endocrinol Metab 83:2666-2674 (Pubitemid 28493758)
26. Yu RN, Ito M, Saunders TL, Camper SA, Jameson JL 1998 Role of Ahch in gonadal development and gametogenesis. Nat Genet 20:353-357 (Pubitemid 28541632)
27. Babu PS, Bavers DL, Beuschlein F, Shah S, Jeffs B, Jameson JL, Hammer GD 2002 Interaction between Dax-1 and steroidogenic factor-1 in vivo: increased adrenal responsiveness to ACTH in the absence of Dax-1. Endocrinology 143:665-673 (Pubitemid 34107222)
28. Wang ZJ, Jeffs B, Ito M, Achermann JC, Yu RN, Hales DB, Jameson JL 2001 Aromatase (Cyp19) expression is up-regulated by targeted disruption of Dax1. Proc Natl Acad Sci USA 98:7988-7993 (Pubitemid 32642674)
29. Lin L, Gu WX, Ozisik G, To WS, Owen CJ, Jameson JL, Achermann JC 2006 Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience. J Clin Endocrinol Metab 91:3048-3054 (Pubitemid 44271754)
30. Phelan JK, Mccabe ER 2001 Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita. Hum Mutat 18:472-487 (Pubitemid 33131550)
31. Xu B, Yang WH, Gerin I, Hu CD, Hammer GD, Koenig RJ 2009 Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis. Mol Cell Biol 29:1719-1734
32. Kelly VR, Xu B, Kuick R, Koenig RJ, Hammer GD 2010 Dax1 up-regulates Oct4 expression in mouse embryonic stem cells via LRH-1 and SRA. Mol Endocrinol 24:2281-2291
33. Sun C, Nakatake Y, Ura H, Akagi T, Niwa H, Koide H, Yokota T 2008 Stem cell-specific expression of Dax1 is conferred by STAT3 and Oct3/4 in embryonic stem cells. Biochem Biophys Res Commun 372:91-96
34. Sun C, Nakatake Y, Akagi T, Ura H, Matsuda T, Nishiyama A, Koide H, Ko MS, Niwa H, Yokota T 2009 Dax1 binds to Oct3/4 and inhibits its transcriptional activity in embryonic stem cells. Mol Cell Biol 29:4574-4583
35. Kim J, Chu J, Shen X, Wang J, Orkin SH 2008 An extended transcriptional network for pluripotency of embryonic stem cells. Cell 132:1049-1061 (Pubitemid 351381745)
36. Khalfallah O, Rouleau M, Barbry P, Bardoni B, Lalli E 2009 Dax-1 knockdown in mouse embryonic stem cells induces loss of pluripotency and multilineage differentiation. Stem Cells 27:1529-1537
37. Niakan KK, Davis EC, Clipsham RC, Jiang M, Dehart DB, Sulik KK, McCabe ER 2006 Novel role for the orphan nuclear receptor Dax1 in embryogenesis, different from steroidogenesis. Mol Genet Metab 88:261-271 (Pubitemid 43963432)
38. Kim AC, Barlaskar FM, Heaton JH, Else T, Kelly VR, Krill KT, Scheys JO, Simon DP, Trovato A, Yang WH, Hammer GD 2009 In search of adrenocortical stem and progenitor cells. Endocr Rev 30:241-263
39. Mizusaki H, Kawabe K, Mukai T, Ariyoshi E, Kasahara M, Yoshioka H, Swain A, Morohashi K 2003 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 17:507-519 (Pubitemid 36403567)
40. Gummow BM, Scheys JO, Cancelli VR, Hammer GD 2006 Reciprocal regulation of a glucocorticoid receptor-steroidogenic factor-1 transcription complex on the Dax-1 promoter by glucocorticoids and adrenocorticotropic hormone in the adrenal cortex. Mol Endocrinol 20:2711-2723 (Pubitemid 44833531)
41. Kim AC, Reuter AL, Zubair M, Else T, Serecky K, Bingham NC, Lavery GG, Parker KL, Hammer GD 2008 Targeted disruption of β-catenin in Sf1-expressing cells impairs development and maintenance of the adrenal cortex. Development 135:2593-2602
42. Achermann JC, Silverman BL, Habiby RL, Jameson JL 2000 Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1. J Pediatr 137:878-881
43. Winnay JN, Xu J, O'Malley BW, Hammer GD 2006 Steroid receptor coactivator-1-deficient mice exhibit altered hypothalamic-pituitary-adrenal axis function. Endocrinology 147:1322-1332 (Pubitemid 43244366)
44. Livak KJ, Schmittgen TD 2001 Analysis of relative gene expression data using real-time quantitative PCR and the 2(ΔΔC(T)) method. Methods 25:402-408 (Pubitemid 34164012)
45. Lack EE 1990 Pathology of the adrenal glands. New York: Churchill Livingstone
46. Niakan KK, McCabe ER 2005 DAX1 origin, function, and novel role. Mol Genet Metab 86:70-83 (Pubitemid 41412162)
47. Ho J, Zhang YH, Huang BL, McCabe ER 2004 NR0B1A: An alternatively spliced form of NR0B1. Mol Genet Metab 83:330-336 (Pubitemid 40260409)
48. Hossain A, Li C, Saunders GF 2004 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 18:1428-1437 (Pubitemid 38692180)
49. Nakamura Y, Vargas Morris C, Sasano H, Rainey WE 2009 DAX-1A (NR0B1A) expression levels are extremely low compared to DAX-1 (NR0B1) in human steroidogenic tissues. Horm Metab Res 41:30-34
50. Achermann JC, Meeks JJ, Jameson JL 2001 Phenotypic spectrum of mutations in DAX-1 and SF-1. Mol Cell Endocrinol 185:17-25 (Pubitemid 33103949)
51. Kim A, Giordano TJ, Kuick R, Serecky K, Hammer GD 2009 Wnt/βcatenin signaling in adrenocortical stem/progenitor cells: Implications for adrenocortical carcinoma. Ann Endocrinol 70:156
52. Kelberman D, Turton JP, Woods KS, Mehta A, Al-Khawari M, Greening J, Swift PG, Otonkoski T, Rhodes SJ, Dattani MT 2009 Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). Clin Endocrinol 70:96-103
53. Riepe FG, Partsch CJ, Blankenstein O, Monig H, Pfäffle RW, Sippell WG 2001 Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. J Clin Endocrinol Metab 86:4353-4357 (Pubitemid 32848558)
54. Ward RD, Raetzman LT, Suh H, Stone BM, Nasonkin IO, Camper SA 2005 Role of PROP1 in pituitary gland growth. Mol Endocrinol 19:698-710 (Pubitemid 40349441)
55. Weiss L, Mellinger RC 1970 Congenital adrenal hypoplasia - an X-linked disease. J Med Genet 7:27-32
56. Else T, Hammer GD 2005 Genetic analysis of adrenal absence: Agenesis and aplasia. Trends Endocrinol Metab 16:458-468 (Pubitemid 41660862)
57. Keegan CE, Hutz JE, Else T, Adamska M, Shah SP, Kent AE, Howes JM, Beamer WG, Hammer GD 2005 Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator. Hum Mol Genet 14:113-123 (Pubitemid 40123467)
58. Lalli E, Sassone-Corsi P 2003 DAX- 1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation. Mol Endocrinol 17:1445-1453 (Pubitemid 36930462)