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Obstetrics and Gynecology International
Volume 2010, Article ID 198709, 7 pages
Review Article

Epigenetic Regulatory Mechanisms Associated with Infertility

1Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, Faculty of Health Sciences, Blegdamsvej 3B, University of Copenhagen, 2200 N, Copenhagen, Denmark
2Department of Assisted Reproduction and Genetics, Jaslok Hospital and Research Centre 15, Dr. G Deshmukh Marg, Mumbai 400 026, India

Received 29 September 2009; Accepted 29 June 2010

Academic Editor: Shi-Wen Jiang

Copyright © 2010 Sheroy Minocherhomji et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Infertility is a complex human condition and is known to be caused by numerous factors including genetic alterations and abnormalities. Increasing evidence from studies has associated perturbed epigenetic mechanisms with spermatogenesis and infertility. However, there has been no consensus on whether one or a collective of these altered states is responsible for the onset of infertility. Epigenetic alterations involve changes in factors that regulate gene expression without altering the physical sequence of DNA. Understanding these altered epigenetic states at the genomic level along with higher order organisation of chromatin in genes associated with infertility and pericentromeric regions of chromosomes, particularly 9 and Y, could further identify causes of idiopathic infertility. Determining the association between DNA methylation, chromatin state, and noncoding RNAs with the phenotype could further determine what possible mechanisms are involved. This paper reviews certain mechanisms of epigenetic regulation with particular emphasis on their possible role in infertility.