Epigenetics and regulation of male fertility (AG Laurentino)
Most cases of male infertility still lack a causal diagnosis and many likely have a complex aetiology. Epigenetics studies inheritable changes in gene function not encoded in the genetic sequence, encoded by epigenomic modification changes, such as DNA methylation. The epigenome of male germ cells, in particular, needs to be correctly set in to enable sperm production, successful fertilisation, and correct embryo development.
My group studies epigenomic changes in the male germline involved in the regulation of spermatogenesis and associated with male infertility and ageing. in recent studies we found that men with cryptozoospermia (severly disrupted spermatogenesis) display abnormalities in the DNA methylation of some families of transposable elements (aka jumping genes) in germ cells (Siebert-Kuss et al., 2024) and genome-wide methylation changes in sperm of fertile men (Laurentino et al., 2020).