Molecular basis of androgen insensitivity

Journal of Steroid Biochemistry and Molecular Biology

Volumn 58, Issue 5-6, 1996, Pages 569-575

  Bruggenwirth H T ^a   Boehmer, A L M ^a   Verleun Mooijman, M C T ^a   Hoogenboezem, T ^a   Kleijer, W J ^a   Otten, B J ^b   Trapman, J ^a   Brinkmann, A O ^a  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; ANDROGEN RECEPTOR;

AMINO ACID SEQUENCE; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; DNA SEQUENCE; FEMALE; GENE DELETION; GENETIC POLYMORPHISM; GENETICS; GENOME; HUMAN; MALE; METABOLISM; MOLECULAR GENETICS; POINT MUTATION; POLYMERASE CHAIN REACTION; SYNDROME;

AMINO ACID SEQUENCE; ANDROGEN-INSENSITIVITY SYNDROME; ANDROGENS; FEMALE; GENE DELETION; GENOME, HUMAN; HUMANS; MALE; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; RECEPTORS, ANDROGEN; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 0030203820     PISSN: 09600760     EISSN: None     Source Type: Journal    
DOI: 10.1016/0960-0760(96)00095-7     Document Type: Article

References (24)

1. Evans R.: The steroid and thyroid hormone receptor superfamily. Science 240 (1988) 889-894.
2. Brinkmann A. O. and Trapman J.: Androgen receptor mutations that affect normal growth and development. In Cancer Surveys (Edited by L. M. Franks). Cold Spring Harbor Laboratory Press, Vol. 14 (1992) pp. 95-111.
3. Sultan C., Lumbroso S., Poujol N., Belon C., Boudon C. and Lobacarro J. M.: Mutations in the androgen receptor gene in androgen insensitivity syndromes. J. Steroid Biochem. Molec. Biol. 46 (1993) 519-530.
4. Jenster G., van der Korput H. A. G. M., Trapman J. and Brinkmann A. O.: Indentification of two transcription activation units in the N-terminal domain of the human androgen receptor. J. Biol Chem. 270 (1995) 7341-7346.
5. Batch J. A., Williams D. M., Davies H. R., Brown B. D., Evans B. A. J., Hughes I. A. and Patterson M. N.: Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Hum. Molec. Genet. 1 (1992) 497-503.
6. Hiort O., Wodtke A., Struve D., Zöllner A., Sinnecker G. H. G. and the German Collaborative Intersex Study Group: Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis. Hum. Molec. Genet. 3 (1994) 1163-1166.
7. LaSpada A. R., Wilson E. M., Lubahn D. B., Harding A. E. and Fischbeck K. H.: Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352 (1991) 77-79.
8. McPhaul M. J., Marcelli M., Tilley W. D., Griffin J. E., Isidro-Gutierrez R. F. and Wilson J. D.: Molecular basis of androgen resistance in a family with qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy. J. Clin. Invest. 87 (1991) 1413-1421.
9. McPhaul M. J., Marcelli M., Tilley W. D., Griffin J. E. and Wilson J. D.: Androgen resistance caused by mutations in the androgen receptor gene. FASEB J. 5 (1991) 2910-2915.
10. Zoppi S., Wilson C. M., Harbison M. D., Griffin J. E., Wilson J. D., Mcphaul M. and Marcelli M.: Complete testicular feminization caused by an ammo-terminal truncation of the androgen receptor with downstream initiation. J. Clin. Invest. 19 (1992) 1105-1112.
11. Ris-Stalpers C., Trifiro M. A., Kuiper G. G. J. M., Jenster G., Romalo G., Sai T., van Rooij H. C. J., Kaufman M., Rosenfield R. L., Liao S., Schweikert H.-U., Trapman J., Pinsky L. and Brinkmann A. O.: Substitution of aspartic acid 686 by histidine or arginine in the human androgen receptor leads to a functionally inactive protein with altered hormone binding characteristics. Molec. Endocr. 5 (1991) 1562-1569.
12. Bradford M. M.: A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein dye binding. Analyt. Biochem. 12 (1976) 248-254.
13. Brinkmann A. O., Faber P. W., van Rooy H. C. J., Kuiper G. G. J. M., Ris C., Klaassen P., van der Korput J. A. G. M., Voorhorst M. M., van Laar J. H., Mulder E. and Trapman J.: The human androgen receptor: domain structure, genomic organization and regulation of expression. J. Steroid Biochem. 34 (1989) 307-310.
14. Luisi B. F., Otwinowski Z., Freeman L. P., Yamamoto K. R. and Sigler P. B.: Chrystallographic analysis of the interaction of the glucocorticoid receptor with DNA. Nature 352 (1991) 497-505.
15. Liu C. C., Simonsen C. and Levinson A. D.: Initiation of translation at internal ATG codons in mammelian cells. Nature 309 (1984) 82-85.
16. Peabody D. S. and Berg P.: Termination-reinitiation occurs in the translation of mammelian cell mRNAs. Molec. Cell. Biol. 6 (1986) 2695-2703.
17. Charest N. J., Zhou Z.-X., Lubahn D. B., Olsen K. L., Wilson E. M. and French F. S.: A frameshift mutation destabilizes androgen receptor messenger RNA in the Tfm mouse. Molec. Endocr. 5 (1991) 573-581.
18. Gaspar M. L., Meo T., Bourgarel P., Guenet J. L. and Tosi M.: A single base deletion in the Tfm androgen receptor gene creates a short lived messenger RNA that directs internal translation initiation. Proc. Natn. Acad. Sci. U.S.A. 88 (1991) 8606-8610.
19. He W. W., Lindzey J. K., Prescott J. L., Kumar M. V. and Tindall D. J.: The androgen receptor in the testicular feminized (tfm) mouse may be a product of internal translation initiation. Receptor 4 (1994) 121-134.
20. Kozak M.: Effects of intercistronic length on the efficiency of reinitiation by eucaryotic ribosomes. Molec. Cell. Biol. 7 (1987) 3438-3445.
21. Vegeto E., Shahbaz M. M., Wen D. X., Goldman M. E., O'Malley B. W. and McDonnell D. P.: Human progesterone receptor A form is a cell and promotor-specific represser of human progesterone receptor B function. Molec. Endocr. 7 (1993) 1244-1255.
22. Tung L., Mohamed M. K., Hoeffler J. P., Takimoto G. S. and Horwitz K. B.: Antagonist occupied human progesterone B-receptors activate transcription without binding to progester-one response elements and are dominantly inhibited by A-receptors. Molec. Endocr. 7 (1993) 1256-1265.
23. Wilson C. M. and McPhaul M. J.: A and B forms of the androgen receptor are present in human genital skin fibroblasts. Proc. Natn. Acad. Sci. U.S.A. 91 (1994) 1234-1238.
24. Castagnaro M., Yandell D. W., Dockhorn-Dworniczak B., Wolfe H. J. and Poremba C.: Human androgen receptor gene mutations and P53 gene analysis in advanced prostate cancer. Verh. Dtsch. Ges. Path. 77 (1993) 119-123.