Assessment of Androgen Receptor Function in Genital Skin Fibroblasts Using a Recombinant Adenovirus to Deliver an Androgen-Responsive Reporter Gene

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 6, 1997, Pages 1944-1948

  McPhaul, Michael J ^a   Schweikert, Hans Udo ^b   Allman, Diane R ^b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADENOVIRIDAE;

ANDROGEN RECEPTOR;

ADENOVIRUS; ARTICLE; CYTOLOGY; FEMALE; FIBROBLAST; GENETIC RECOMBINATION; GENETICS; GENITAL SYSTEM; GONADAL DISEASE; HUMAN; HYPOSPADIAS; MALE; METABOLISM; PATHOLOGY; PHYSIOLOGY; REFERENCE VALUE; REPORTER GENE; SKIN; SPINAL MUSCULAR ATROPHY; SYNDROME;

ADENOVIRIDAE; FEMALE; FIBROBLASTS; GENES, REPORTER; GENITALIA; HUMANS; HYPOSPADIAS; MALE; MUSCULAR ATROPHY, SPINAL; RECEPTORS, ANDROGEN; RECOMBINATION, GENETIC; REFERENCE VALUES; SKIN; SYNDROME; VIRILISM;

EID: 0031158866     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.82.6.1944     Document Type: Article

References (16)

1. Griffin JE, McPhaul MJ, Russell DW, Wilson JD. 1995 The androgen resistance syndromes: 5α-reductase 2 deficiency, testicular feminization, and related disorders. In: Scriver CR, Beaudet Al, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease, 7th ed. New York: McGraw-Hill; 2967-2998.
2. Állera A, Herbst MA, Griffin JE, Wilson JD, Schweikert H-U, McPhaul MJ. 1995 Mutations of the androgen receptor coding sequence are infrequent in patients with isolated hypospadias. J Clin Endocrinol Metab. 80:2697-2699.
3. McPhaul MJ, Deslypere J-P, Allman DR, Gerard RD. 1993 The adenovirus-mediated delivery of a reporter gene permits the assessment of androgen receptor function in genital skin fibroblast cultures. J Biol Chem. 268:26063-26066.
4. McPhaul MJ, Marcelli M, Zoppi S, Wilson CM, Griffin JE, Wilson JD. 1992 Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. J Clin Invest. 90:2097-2101.
5. Weidemann W, Linck B, Haupt H, et al. Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. In press.
6. LaSpada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. 1991 Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 352:77-79.
7. 3H]dihydrotestosterone in cultured genital skin fibroblasts of patients with severe hypospadias. J Clin Invest. 83:662-668.
8. Shih W, Mears T, Bradley DJ, Parandoosh Z, Weinberger C. 1991 An adenoviral vector system for functional identification of nuclear receptor ligands. Mol Endocrinol. 5:300-309.
9. Marcelli M, Zoppi S, Wilson CM, Griffin JE, McPhaul MJ. 1994 Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex. J Clin Invest. 94:1642-1650.
10. Mhatre AN, Trifiro MA, Kaufman M, et al. 1993 Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nat Genet. 5:184-188.
11. Amato AA, Prior TW, Barohn RJ, Snyder P, Papp A, Mendell JR. 1993 Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene. Neurology. 43:791-794.
12. Gao T, Marcelli M, McPhaul MJ. 1996 Transcriptional activation and transient expression of the human androgen receptor. J Steroid Biochem Mol Biol. 59:9-20.
13. Böök JA. 1951 The incidence of congenital disease and defects in a south Swedish population. Acta Genet. 2:289-311.
14. Shapiro RN, Eddy W, Fizzgibbon J, O'Brien G. 1958 The incidence of congenital anomalies discovered in the neonatal period. Am J Surg. 96:396-400.
15. Choong CS, Kemppainen JA, Zhou Z-X, Wilson EM. 1996 Reduced androgen receptor gene expression with first exon CAG repeat expansion. Mol Endocrinol. 10:1527-1535.
16. Griffin JE, Durrant JL. 1982 Qualitative receptor defects in families with androgen resistance: failure of stabilization of the fibroblast cytosol androgen receptor. J Clin Endocrinol Metab. 55:465-474.