Epigenetic disorders and male subfertility

Epigenetic causes of male infertility are highlighted by increasing arguments in favor of key roles of DNA methylation, histone modifications, and spermatozoal RNA in the spermatogenesis process and embryo formation.


Céline Chalas Boissonnas, M.D., Ph.D., Pierre Jouannet, M.D., Hélène Jammes, Ph.D.

Volume 99, Issue 3, Pages 624-631, 1 March 2013



To provide a link between epigenetics and male subfertility at the DNA, histoneprotamine and RNA levels and their consequences on fertilization and embryo development.


Review of the relevant literature.


University-based clinical and research laboratories.


Fertile and infertile males.



Main Outcome Measure(s):

Critical review of the literature.


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 is dependant upon DNA histone-protamine configuration which itself is stabilized by spermatozoal RNAs.


The paternal genome has long been considered silent and passive in embryo formation. The epigenetic processes associated with the paternal DNA genome highlights its importance in male fertility and also for embryo development.

Read the full text at: http://www.fertstert.org/article/S0015-0282(13)00180-5/fulltext