Preliminary investigations on androgen receptor gene mutations in infertile men

Molecular Human Reproduction

Volumn 3, Issue 11, 1997, Pages 941-943

  Tincello, D G ^a,c   Saunders, P T K ^b   Hargreave, T B ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c LIVERPOOL WOMEN S HOSPITAL   (United Kingdom)

Author keywords

Androgen; Infertility; Mutation; Oligozoospermia; Receptor

Indexed keywords

ANDROGEN RECEPTOR;

ARTICLE; GENETICS; HUMAN; MALE; MALE INFERTILITY; MUTATION;

HUMANS; INFERTILITY, MALE; MALE; MUTATION; RECEPTORS, ANDROGEN;

EID: 0031266759     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/3.11.941     Document Type: Article

References (19)

1. Aiman, LE. and Griffin, I.E. (1982) The frequency of androgen receptor deficiency in infertile men. J. Clin. Endocrinol. Metab., 54, 725-732.
2. Aiman, J., Griffin, I.E., Gazak, J.M et al (1979) Androgen insensitivity as a cause for infertility in otherwise normal men. N. Engl. J. Med., 300, 223-227.
3. Akin, J.W., Behzadian, A., Tho, S.P.T. and McDonough. P.G. (1991) Evidence for a partial deletion in the androgen receptor gene in a phenotypic male with azoospermia. Am. J. Obstet. Gynecol., 165, 1891-1894.
4. Carson-Jurica, M.A., Schrader, W.T. and O'Malley, B.W. (1990) Steroid receptor family: structure and function. Endocr. Rev., 11, 201-220.
5. Chang, C., Kokontis, J. and Liao, S. (1988) Structural analysis of complementary DNA and amino acid sequences of human and rat androgen receptors. Proc. Natl. Acad. Sci. USA, 85, 7211-7215.
6. DeBellis, A., Quigley,C.A., Cariello, N.F. et al. (1992) Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique. Mol. Endocrinol., 6, 1909-1920
7. Eil, C., Gamblin, G.T., Hodge, J.W. et al. (1985) Whole cell and nuclear androgen uptake in skin fibroblasts from infertile men. J Androl., 6, 365-371.
8. Faber, P.W., van Rooij, H.C J., Schippen, H.J. et al. (1993) Two different, overlapping pathways of transcription initiation are active on the TATA-less human androgen receptor promoter. J. Biol. Chem., 268, 9296-9301.
9. Hargreave, T.B. and Elton, R.A. (1986) Fecundability rates from an infertile male population. Br: J. Urol., 58, 194-197.
10. Kazemi Esfarjani, P., Beitel, L.K., Trifiro, M. et al. (1993) Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes. Mol. Endocrinol., 7, 37-46.
11. McPhaul, M.I., Marcelli, M., Zoppi, S et al (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.
12. McPhaul, M.J., Marcelli, M., Zoppi, S. et al. (1993) Genetic basis of endocrine disease. 4. The spectrum of mutations in the androgen receptor gene that causes androgen resistance. J. Clin. Endocrinol. Metab , 76, 17-23.
13. Morrow, A.F., Gyorki, S., Warne. G.L. et al. (1987) Variable androgen receptor levels in infertile men. J. Clin. Endocrinol Metab., 64, 1115-1121.
14. Myers, R.M., Maniatis, T. and Lerman, L.S. (1987) Detection and localisation of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol., 155, 501-527.
15. Myers, R.M., Fischer, S G., Lerman, L.S. and Maniatis, T. (1985) Nearly all single base substitutions in DNA fragments joined to a GC-Clamp can be detected by denaturing gradient gel electrophoresis. Nucleic Acid Res., 13, 3131-3145.
16. Quigley, CA., DeBellis, A., Marschke, K.B. et al. (1995) Androgen receptor defects: historical, clinical and molecular perspectives. Endocr. Rev., 16, 271-321.
17. Saunders, P.T.K., Padayachi, T., Tincello, D.G. et al (1992) Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome. Clin. Endocrinol., 37, 214-220
18. Sheffield, V.C , Cox, D.R.. Lerman, L.S. and Myers, R.M (1989) Attachment of a 40 base pair G+C rich sequence (GC-clamp) to genomic DNA fragments by the polyraerase chain reaction results in improved detection of single base changes. Proc. Natl Acad. Sci. USA, 86, 232-236.
19. Wilson, J.D. (1992) Syndromes of androgen resistance. Biol. Reprod., 46, 168-173.