CAG REPEAT NUMBER IN ANDROGEN RECEPTOR GENE AND MALE INFERTILITY
Plaseski T1,2, Noveski P1, Dimitrovski C2, Kocevska B2, Efremov GD1, Plaseska-Karanfilska D1,*
*Corresponding Author: : Dr. Dijana Plaseska-Karanfilska, Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, Av. Krste Misirkov 2, POB 428, 1000 Skopje, R. Macedonia; Tel: +389 2 3235 410 Fax: +389 2 3115 434; E-mail: dijana@manu.edu.mk
page: 19

REFERENCES

1. De Kretser DM, Baker HWG. Infertility in men: recent advances and continuing controversies. J Clin Endocrinol Metab 1999; 84(10): 3443-3450.

2. LaSpada AR, Wilson EM, Lubahn DB, Harding AE, Fishbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991, 352(6330): 77-79.

3. Chamberlain NL, Driver ED, Miesfeld RL. The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Res 1994; 22(15): 3181-3186.

4. Giovannucci E, Stampfer MJ, Krithivas K, Brown M, Dahl D, Brufsky A, Talcott J, Hennekens CH, Kantoff PW. The CAG repeat within the androgen receptor gene and its relationship to prostate cancer. Proc Natl Acad Sci USA 1997; 94(7): 3320-3323.

5. Mifsud A, Ramirez S, Yong EL. Androgen receptor gene CAG trinucleotide repeats in anovulatory infertility and polycystic ovaries. J Clin Endocrinol Metab 2000;85: 3484-3488.

6. Lim HN, Chen H, McBride S, Dunning AM, Nixon RM, Hughes IA, Hawkins JR. Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males. Hum Mol Genet 2000; 9(5): 829-834.

7. Haiman CA, Brown M, Hankinson SE, Spiegelman D, Colditz GA, Willett WC, Kantoff PW, Hunter DJ. The androgen receptor CAG repeat polymorphism and risk of breast cancer in the Nursesí Health Study. Cancer Res 2002; 62(4): 1045-1049.

8. Tut TG, Ghadessy FJ, Trifiro MA, Pinsky L, Yong EL. Long polyglutamine tracts in the androgen receptor are associated with reduced transactivation, impaired sperm production, and male infertility. J Clin Endocrinol Metab 1997; 82(11): 3777-3782.

9. Efremov GD, Dimovski AJ, Plaseska-Karanfilska D, Simjanovska L, Sukarova E, Koceva S. Isolation of genomic DNA from mammalian cells. In: Efremov GD, Ed. A Laboratory Manual, 3rd ed. Skopje: Macedonian Academy of Sciences and Arts. 1999; 1-3.

10. Tse JY, Liu VW, Yeung WS, Lau EY, Ng EH, Ho PC. Molecular analysis of the androgen receptor gene in Hong Kong Chinese infertile men. J Assist Reprod Genet 2003; 20(6): 227-233.

11. Mifsud A, Sim CK, Boettger-Tong H, Moreira S, Lamb DJ, Lipshultz LI, Yong EL. Trinucleotide (CAG) repeat polymorphisms in the androgen receptor gene: molecular markers of risk for male infertility. Fertil Steril 2001; 75(2): 275-281.

12. Komori S, Kasumi H, Kanazawa R, Sakata K, Nakata Y, Kato H, Koyama K. CAG repeat length in the androgen receptor gene of infertile Japanese males with oligozoospermia. Mol Hum Reprod 1999; 5(1):14-16.

13. Dowsing AT, Yong EL, Clark M, McLachlan RI, de Kretser DM, Trounson AO. Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene. Lancet 1999; 354(9179): 640-643.

14. Kukuvitis A, Georgiou I, Bouba I, Tsirka A, Giannouli CH, Yapijakis C, Tarlatzis B, Bontis J, Lolis D, Sofikitis N, Papadimas J. Association of oestrogen receptor a polymorphisms and androgen receptor CAG trinucleotide repeats with male infertility: a study in 109 Greek infertile men. Int J Androl 2002; 25(3): 149-152.

15. Wallerand H, Remy-Martin A, Chabannes E, Bermont L, Adessi GL, Bittard H. Relationship between expansion of the CAG repeat in exon 1 of the androgen receptor gene and idiopathic male infertility. Fertil Steril 2001; 76(4): 769-774.

16. Giwercman YL, Xu C, Arver S, Pousette A, Reneland R. No association between the androgen receptor gene CAG repeat and impaired sperm production in Swedish men. Clin Genet 1998; 54(5): 435-436.

17. Lund A, Tapanainen JS, Lahdetie J, Savontaus ML, Aittomaki K. Long CAG repeats in the AR gene are not associated with infertility in Finnish males. Acta Obstet Gynecol Scand 2003; 82(2): 162-166.

18. Dadze S, Wieland C, Jakubiczka S, Funke K, Schroder E, Royer-Pokora B, Willers R, Wieacker PF. The size of the CAG repeat in exon 1 of the androgen receptor gene shows no significant relationship to impaired spermatogenesis in an infertile Caucasoid sample of German origin. Mol Hum Reprod 2000; 6(3): 207-214.

19. Thangaraj K, Joshi MB, Reddy AG, Gupta NJ, Chakravarty B, Singh L. CAG repeat expansion in the androgen receptor gene is not associated with male infertility in Indian populations. J Androl 2002; 23(6): 815-818.

20. Ferlin A, Bartoloni L, Rizzo G, Roverato A, Garolla A, Foresta C. Androgen receptor gene CAG and GGC repeat lenghts in idiopathic male infertility. Mol Hum Reprod 2004; 10(6): 417-421.

21. Lavery R, Houghton JA, Nolana A, Glennon M, Egan D, Maher M. CAG repeat length in an infertile male population of Irish origin. Genetica 2005; 123(3): 295-302.

 




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