Detection of Y chromosome microdeletions and mitochondrial DNA mutations in male infertility patients

Genetics and Molecular Research

Volumn 11, Issue 2, 2012, Pages 1039-1048

  Guney A I ^a   Javadova, D ^a   Kirac, D ^b   Ulucan, K ^a   Koc, G ^a   Ergec, D ^c   Tavukcu, H ^a   Tarcan, T ^a  

^a MARMARA UNIVERSITY   (Turkey)

^b YEDITEPE UNIVERSITY   (Turkey)

^c ISTANBUL YENI YUZYIL UNIVERSITY   (Turkey)

Author keywords

Male infertility; mtDNA mutations; Y chromosome microdeletion

Indexed keywords

MITOCHONDRIAL DNA;

AMINO ACID SUBSTITUTION; ARTICLE; ATPASE6 GENE; CHROMOSOME DELETION Y; CLINICAL ARTICLE; CONTROLLED STUDY; CYTB GENE; GENE MUTATION; HUMAN; MALE; MALE INFERTILITY; MITOCHONDRIAL GENE; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; ND1 GENE; SEQUENCE ANALYSIS; SPERMATOZOON MOTILITY; Y CHROMOSOME;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, Y; DNA PRIMERS; DNA, MITOCHONDRIAL; HUMANS; INFERTILITY, MALE; KARYOTYPING; MALE; MUTATION; POLYMERASE CHAIN REACTION;

EID: 84930478125     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/2012.April.27.2     Document Type: Article

References (37)

1. Agarwal A, Makker K and Sharma R (2008). Clinical relevance of oxidative stress in male factor infertility: an update. Am. J. Reprod. Immunol. 59: 2-11.
2. Alcivar AA, Hake LE, Millette CF, Trasler JM, et al. (1989). Mitochondrial gene expression in male germ cells of the mouse. Dev. Biol. 135: 263-271.
3. Balkan M, Tekes S and Gedik A (2008). Cytogenetic and Y chromosome microdeletion screening studies in infertile males with oligozoospermia and azoospermia in Southeast Turkey. J. Assist. Reprod. Genet. 25: 559-565.
4. Burgoyne PS (1998). The mammalian Y chromosome: a new perspective. Bioessays 20: 363-366.
5. Carra E, Sangiorgi D, Gattuccio F and Rinaldi AM (2004). Male infertility and mitochondrial DNA. Biochem. Biophys. Res. Commun. 322: 333-339.
6. Chen GF, Chan FL, Hong BF, Chan LW, et al. (2004). Mitochondrial DNA mutations in chemical carcinogen-induced rat bladder and human bladder cancer. Oncol. Rep. 12: 463-472.
7. Clayton DA, Doda JN and Friedberg EC (1974). The absence of a pyrimidine dimer repair mechanism in mammalian mitochondria. Proc. Natl. Acad. Sci. U. S. A. 71: 2777-2781.
8. Cummins J (1998). Mitochondrial DNA in mammalian reproduction. Rev. Reprod. 3: 172-182.
9. Cummins JM, Jequier AM, Martin R, Mehmet D, et al. (1998). Semen levels of mitochondrial DNA deletions in men attending an infertility clinic do not correlate with phenotype. Int. J. Androl. 21: 47-52.
10. Dada R, Gupta NP and Kucheria K (2006). Cytogenetic and molecular analysis of male infertility: Y chromosome deletion during nonobstructive azoospermia and severe oligozoospermia. Cell Biochem. Biophys. 44: 171-177.
11. Erasmuson T, Sin IL and Sin FY (2003). Absence of association of androgen receptor trinucleotide expansion and poor semen quality. Int. J. Androl. 26: 46-51.
12. Fattoruso O, Zarrilli S, Coto I, De Rosa M, et al. (2009). Prevalence of Y microdeletions in azoospermic and severe oligozoospermic men in Southern Italy: application of a rapid capillary electrophoresis method. J. Endocrinol. Invest. 32: 223-227.
13. Folgero T, Bertheussen K, Lindal S, Torbergsen T, et al. (1993). Mitochondrial disease and reduced sperm motility. Hum. Reprod. 8: 1863-1868.
14. Hargreave TB (2000). Genetic basis of male infertility. Brit. Med. Bull. 56: 650-671.
15. Holyoake AJ, Sin IL, Benny PS and Sin FY (1999). Association of a novel human mtDNA ATPase6 mutation with immature sperm cells. Andrologia 31: 339-345.
16. Holyoake AJ, McHugh P, Wu M, O'Carroll S, et al. (2001). High incidence of single nucleotide substitutions in the mitochondrial genome is associated with poor semen parameters in men. Int. J. Androl. 24: 175-182.
17. Kao SH, Chao HT and Wei YH (1998). Multiple deletions of mitochondrial DNA are associated with the decline of motility and fertility of human spermatozoa. Mol. Hum. Reprod. 4: 657-666.
18. Kumar R, Venkatesh S, Kumar M, Tanwar M, et al. (2009). Oxidative stress and sperm mitochondrial DNA mutation in idiopathic oligoasthenozoospermic men. Indian J. Biochem. Biophys. 46: 172-177.
19. Lestienne P, Reynier P, Chretien MF, Penisson-Besnier I, et al. (1997). Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements. Mol. Hum. Reprod. 3: 811-814.
20. McLachlan RI and O'Bryan MK (2010). Clinical Review: State of the art for genetic testing of infertile men. J. Clin. Endocrinol. Metab. 95: 1013-1024.
21. Moore FL and Reijo-Pera RA (2000). Male sperm motility dictated by mother's mtDNA. Am. J. Hum. Genet. 67: 543-548.
22. O'Connell M, McClure N and Lewis SE (2002a). A comparison of mitochondrial and nuclear DNA status in testicular sperm from fertile men and those with obstructive azoospermia. Hum. Reprod. 17: 1571-1577.
23. O'Connell M, McClure N and Lewis SE (2002b). Mitochondrial DNA deletions and nuclear DNA fragmentation in testicular and epididymal human sperm. Hum. Reprod. 17: 1565-1570.
24. Qureshi SJ, Ross AR, Ma K, Cooke HJ, et al. (1996). Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically-determined spermatogenic failure in men. Mol. Hum. Reprod. 2: 775-779.
25. Ruiz-Pesini E, Diez C, Lapena AC, Perez-Martos A, et al. (1998). Correlation of sperm motility with mitochondrial enzymatic activities. Clin. Chem. 44: 1616-1620.
26. Ruiz-Pesini E, Lapena AC, Diez-Sanchez C, Perez-Martos A, et al. (2000). Human mtDNA haplogroups associated with high or reduced spermatozoa motility. Am. J. Hum. Genet. 67: 682-696.
27. Ruiz-Pesini E, Lott MT, Procaccio V, Poole JC, et al. (2007). An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res. 35: D823-D828.
28. Sargin CF, Berker-Karauzum S, Manguoglu E, Erdogru T, et al. (2004). AZF microdeletions on the Y chromosome of infertile men from Turkey. Ann. Genet. 47: 61-68.
29. Selvi RD, Vanniarajan A, Gupta NJ, Chakravarty B, et al. (2006). A novel missense mutation C11994T in the mitochondrial ND4 gene as a cause of low sperm motility in the Indian subcontinent. Fertil. Steril. 86: 1783-1785.
30. Singh AR, Vrtel R, Vodicka R and Dhaifalah I (2006). Genetic factors in male infertility and their implications. Int. J. Hum. Genet. 6: 163-169.
31. Solano A, Playán A, López-Pérez MJ and Montoya J (2001). Genetic diseases of human mitochondrial DNA. Salud Pública México 43: 1-11.
32. Spiropoulos J, Chinnery PF and Turnbull DM (1999). Pathogenic mitochondrial DNA mutations and human reproduction. Hum. Fertil. 2: 133-137.
33. Taylor RW and Turnbull DM (2005). Mitochondrial DNA mutations in human disease. Nat. Rev. Genet. 6: 389-402.
34. Thangaraj K, Joshi MB, Reddy AG, Rasalkar AA, et al. (2003a). Sperm mitochondrial mutations as a cause of low sperm motility. J. Androl. 24: 388-392.
35. Thangaraj K, Gupta NJ, Pavani K, Reddy AG, et al. (2003b). Y chromosome deletions in azoospermic men in India. J. Androl. 24: 588-597.
36. Vogt PH, Edelmann A, Kirsch S, Henegariu O, et al. (1996). Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet. 5: 933-943.
37. Wallace DC (1992). Diseases of the mitochondrial DNA. Annu. Rev. Biochem. 61: 1175-1212.