DNA methylation is an important part of the epigenetic code governing gene expression. In human reproductive diseases, recent
studies have shown the existence of deviations from the normal methylation profile at various genome loci. In this review, this type
of epigenetic alterations is explored in pathological spermatogenesis, ovarian diseases, placental syndromes, such as preeclampsia and Intra-
Uterine Growth Restriction, uterine diseases such as endometriosis, and putative pathophysiological effects of Assisted Reproductive
Technologies. We review the notion of epigenetics, the technical methods available to analyze methylation, and the known associations
between reproductive diseases and DNA methylation, focusing on human pathologies and on animal models when available. We show
that imprinted genes control regions (ICRs) are a prominent and frequent target of methylation anomalies in reproductive disorders, but
such alterations also affect non-imprinted genes. The mechanistic aspects of gene regulation in response to methylation anomalies are
also discussed in this review when they have been investigated.
Keywords: DNA methylation, epigenetics, reproduction, placenta, sperm, infertility, medically assisted reproduction, imprinted genes.
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