Epigenetic disorders and male subfertility

• Published in: Fertility and sterility Vol. 99; no. 3; pp. 624 - 631
• Main Authors: Boissonnas, Céline Chalas, M.D., Ph.D, Jouannet, Pierre, M.D, Jammes, Hélène, Ph.D
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.03.2013; Elsevier
• Subjects: Development Biology; DNA; DNA methylation; embryogenesis; Embryonic Development - genetics; Epigenesis, Genetic - genetics; Epigenetics; Female; Fertility - genetics; genes; Genetic Diseases, Inborn - genetics; histone; histones; Humans; Infertility, Male - genetics; Internal Medicine; Life Sciences; Male; male fertility; male infertility; men; methylation; Obstetrics and Gynecology; patients; Pregnancy; Reproductive Biology; RNA; spermatogenesis; spermatozoa; spermatozoal RNAs; Epigenetics; spermatozoal RNAs; histone; male infertility; methylation; spermatozoal rnas; epigenetic
• ISSN: 0015-0282; 1556-5653
• DOI: 10.1016/j.fertnstert.2013.01.124

Objective To provide a link between epigenetics and male subfertility at the DNA, histone-protamine, and RNA levels and its consequences on fertilization and embryo development. Design Review of the relevant literature. Setting University-based clinical and research laboratories. Patient(s) Fertile and infertile men. Intervention(s) None. Main Outcome Measure(s) Critical review of the literature. Result(s) Epigenetic markers can be modified in infertile patients. Epigenetic modifications include methylation loss or gain on the global level and on imprinted genes, high levels of histone retention in spermatozoa, and deficiencies in some transcripts involved in spermatogenesis. Interestingly, these abnormalities are all linked together, because DNA methylation maintenance depends on DNA histone-protamine configuration which itself is stabilized by spermatozoal RNAs. Conclusion(s) The paternal genome has long been considered to be silent and passive in embryo formation. The epigenetic processes associated with the paternal DNA genome highlights its importance in male fertility as well as for embryo development.