ABSTRACT
In recent years, there has been a burst of studies analyzing the epigenome of gametes and its relationship with the transmission of epigenetic alterations in ART conceptions. Most of the studies have been done in spermatozoa because the simplicity of sample collection, the presence of high number of cells, which along with the relative homogeneity of the sperm epigenome ensures reliable results. Overall, studies in spermatozoa from infertile patients have suggested that sperm epigenome variations are associated with male infertility (Chapters 8 and 9). Unlike what happens in genetic causes of male infertility, in which an alteration used to be associated with a specific seminal alteration, epigenome variations have not been reported to associate with specific infertility phenotypes. Actually, similar epigenome variations have been observed from patients with infertile normozoospermia to severe oligoteratozoospermia. Moreover, epigenome alterations have been described for DNA methylation, transcriptome, post-translational histone modifications and chromatin protamination, probably because the mechanisms leading to the configuration of the sperm epigenome are interconnected.
