Genetic and epigenetic factors: Role in male infertility
- PMID: 21716934
- PMCID: PMC3114572
- DOI: 10.4103/0970-1591.78436
Genetic and epigenetic factors: Role in male infertility
Abstract
Genetic factors contribute upto 15%-30% cases of male infertility. Formation of spermatozoa occurs in a sequential manner with mitotic, meiotic, and postmeiotic differentiation phases each of which is controlled by an intricate genetic program. Genes control a variety of physiologic processes, such as hypothalamus-pituitary-gonadal axis, germ cell development, and differentiation. In the era of assisted reproduction technology, it is important to understand the genetic basis of infertility to provide maximum adapted therapeutics and counseling to the couple.
Keywords: Azoospermia; DNA damage; Y chromosome; cytogenetic; epigenetics; infertility; mRNA; mtDNA; oligozoospermia.
Conflict of interest statement
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References
-
- Yoshida A, Miura K, Shirai M. Cytogenetic survey of 1,007 males. Urol Int. 1997;58:166–76. - PubMed
-
- Dada R, Kumar R, Shamsi MB, Tanwar M, Pathak D, Venkatesh S, et al. Genetic screening in couples experiencing recurrent assisted procreation failure. Ind J Biochem Biophys. 2008;45:116–20. - PubMed
-
- Dada R, Kumar R, Shamsi MB, Kumar R, Kucheria K, Sharma RK, et al. Higher frequency of Yq microdeletions in sperm DNA as compared to DNA isolated from blood. Asian J Androl. 2007;9:720–2. - PubMed
-
- Selice R, Di Mambro A, Garolla A, Ficarra V, Iafrate M, Ferlin A, et al. Spermatogenesis in Klinefelter syndrome. J Endocrinol Invest. 2010;33:789–93. - PubMed