Frame-shift Mutation in Hormone Binding Domain of Human Androgen Receptor Gene Causes Complete Androgen Insensitivity

Molecules and Cells

Volumn 8, Issue 6, 1998, Pages 741-745

  Chung, Hye Won ^a   Kim, Seung Cheol ^a   Kim, Hyung Lae ^a  

^a Ewha Womans University   (South Korea)

Author keywords

Androgen Insensitivity Syndrome; Androgen Receptor; Mutation; PCR; SSCP

Indexed keywords

ANDROGEN; ANDROGEN RECEPTOR; DNA;

ADULT; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; BINDING SITE; CASE REPORT; FEMALE; FRAMESHIFT MUTATION; GENETICS; HUMAN; MALE; METABOLISM; PATHOLOGY; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; ANDROGEN-INSENSITIVITY SYNDROME; ANDROGENS; BINDING SITES; DNA; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, ANDROGEN;

EID: 0032585342     PISSN: 10168478     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. Bardin, C. W. (1986) Pituitary-testicular axis; in Reproductive Endocrinology, Physiology Pathophysiology and Clinical Management, Yen, S. S. C. and Jaffe, R. B. feds.), pp. 177-199, Saunders.
2. Batch, J. A., Davies, H. R., Evans, B. A. J., Hughes, I. A., and Patterson, M. N. (1993) Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome. Arch. Dis. Child. 68, 453-457.
3. Batch J. A., Williams, D. M., Davies, H. R., Brown, B. D., Evans, B. A. J., Hughes, I. A., and Patterson, M. N. (1992) Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Hum. Mol. Genet. 1, 497-503.
4. Brown, T. R., Lubahn, D. B., Wilson, E. M., French, F. S., Migeon, C. J., and Corden, J. L. (1990) Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity. Mol. Endocrinol. 4, 1759-1772.
5. Carson-Jurnica, M. A., Schrader, W. T., and O'Malley, B. W. (1990) Steroid receptor family: structure and functions. Endocrine Rev. 11, 201-220.
6. Chang, C., Kokontis, J., and Liao, S. (1988) Molecular cloning of human and rat complementary DNA encoding androgen receptors. Science 240, 324-326.
7. Charest, N. J., Zhou, Z., Lubahn, D. B., Olsen, K. L., Wilson, E. M., and French, F. S. (1991) A frameshift mutation destabilizes androgen receptor messenger RNA in the Tfm mouse. Mol. Endocrinol. 5, 573-581.
8. De Bellis, A., Quigley, C. A., Cariello, N. F., El-Awady, M. K., Sar, M., Lane, M. V., Wilson, E. M., and French, F. S. (1992) Single base mutations in the androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique. Mol. Endocrinol. 6, 1909-1920.
9. De Bellis, A., Quigley, C. A., Marschke, K. B., El-Awady, M. K., Lane, M. V., Smith, E. P., Sar, M., Wilson, E. M., and French, F. S. (1994) Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome. J. Clin. Endocrinol. Metab. 78, 513-522.
10. French, F. S., Baggett, B., Van Wyk, J. J., Talbert, L. M., Hubbard, W. R., Johnstone, F. R., Weaver, R. P., Forchielli, E., Rao, G. S., and Sarda, I. R. (1965) Testicular feminization: clinical, morphological and biological studies. J. Clin. Endoclinol. Metab. 61, 639-643.
11. Griffin, J. E. and Wilson, J. D. (1989) The androgen resistance syndrome: 5α-reductase deficiency, testicular feminization, and related disorders; in The Metabolic Bases of Inherited Disease, Shriver, C. R. et al. (ed.) pp. 1919-1944, McGraw-Hill.
12. Hiort, O., Huang, Q., Sinnecker, G. H. G., Sadeghi-Nejad, A., Kruse, K., Wolfe, H. J., and Yandell, D. W. (1993) Single strand conformationals) polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling and therapy. J. Clin. Endocrinol. Metabol. 77, 262-266.
13. Keenan, B. S., Meyer, III W. J., Hadjian, A. J., Jones, H. W., and Migeon, C. J. (1974) Syndrome of androgen insensitivity in man: absence of 5-dihydrotestosterone binding protein in skin fibroblasts. J. Clin. Endocrinol. Metabol 38, 143-1146.
14. Kuiper, G. G. J. M., Faber, P. W., van Rooij, H. J. C., Van der Korput, J. A. G. M, Ris-Stalpers, C., Klaassen, P., Trapman, J., and Brinkmann, A. O. (1989) Structural organization of the human androgen receptor gene. J. Mol. Endocrinol. 2. R1-R4.
15. Lobaccaro, J. M., Lumbroso, S., Berta, P., Chaussain, J. L., and Sultan, S. (1993) Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformational polymophism. J. Steroid Biochem. Mol. biol. 44, 211-216.
16. Lubahn, D. B., Brown, T. R., Simental, J. A., Higgs, H. N., Migeon, C. J., Wilson, E. M., and French, F. S. (1989) Sequence of the intron/exon junctions of the coding region of the human androgen of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. Proc. Nat'l. Acad. Sci. USA 86, 9534-9538.
17. Lubahn, D. B., Joseph, D. R., Sullivan, P. M., Willard, H. F., French, F. S., and Wilson, E. M. (1988) Cloning of human androgen receptor complementary DNA and localization to the X chromosome. Science 240, 327-330.
18. Marcelli, M., Tilley, W. D., Wilson, C. M., Griffin, J. E., Wilson, J. D., and McPhaul, M. J. (1990) Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance. Mol. Endocrinol. 4, 1105-1106.
19. Marcelli, M., Tilley, W. D., Wilson, C. M., Wilson, J. D., Griffin, J. E., and McPhaul, M. J. (1990) A Single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of patient with receptor-negative androgen resistance. J. Clin. Invest. 85, 1522-1528.
20. McPhaul, M. J., Marcelli, M., Tilly, W. D., Griffin, J. E., and Wilson, J. D. (1991) Androgen resistance caused by mutations in the androgen receptor gene. FASEB J. 5, 2910-2915.
21. Quigley, C. A., Debells, A., Marschke, K. B., El-Awady, M. K. Wilson, E. M., and French, F. S. Androgen receptor defects: historical, clinical, and molecular properties. (1995) Endocrinol. Rev. 16, 271-331.
22. Ris-Stalpers, C., Kupier, G. G. J. M., Faber, P. W., Schweikert, H. U., van Rooij, H. C. J., Zegers, N. D., Hodgins, M. B., Degenhart, H. J., Trapman, J., and Brinkmann, A. O. (1990) Abberant splicing of a androgen receptor mRNA results in the synthesis of a nonfunctional receptor protein in a patient with androgen insensitivity. Proc. Natl. Acad. Sci. USA 87, 7866-7870.
23. Ris-Stalpers, C., Trifiro, M. A., Kupier, G. G. J. M., Jenster, G., Romalo, G., Sai, T., van Rooij, H. C. J., Kaufman, M., and Brinkmann, A. O. (1991) Substitution of aspartic acid-686 by histidine or asparagine in the human androgen receptor leads to a functionally inactive protein with altered hormone binding characteristics. Mol. Endocrinol. 5, 1562-1569.
24. Sai, T., Seino, S., Chang, C., Trifiro, M. A., Pinsky, L., Mhatre, A., Kaufman, M., Lambert, B., Trapman, J., Brinkmann, A. O., Rosenfield, R. L., and Liao, S. (1990) An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity. Am. J. Hum. Genet. 46, 1095-1100.
25. Trifiro, M., Gottlieb, B., Pinsky L., Kaufman, M., Prior, L., Belsham, D. D., Wrogenmann, K., Brown, C. J., Willard, H. F., Trapman, J., Brinkmann, A. O. Chang, C., Lio, S., Sergovich, F., and Jung, J. (1991) The 565/59 kDa androgenbinding protein in male genital skin fibroblasts with a deleted androgen receptor gene. Mol. Cell. Endocrinol. 75, 37-47.