Epigenetic disorders and male subfertility
2013
Boissonnas, Céline Chalas, C. C. | Jouannet, Pierre, P. | Jammes, Hélène | Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin) ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP] ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP) | Centre de recherche sens, ethique, société (CERSES - UMR 8137) ; Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS) | Biologie du développement et reproduction (BDR) ; École nationale vétérinaire - Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA)-Centre National de la Recherche Scientifique (CNRS) | Assistance Publique-Hopitaux de Paris
Abstract: 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.
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