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.

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Authors

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

Abstract

Objective:

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

Design:

Review of the relevant literature.

Setting:

University-based clinical and research laboratories.

Patient(s):

Fertile and infertile males.

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

Conclusion(s):

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


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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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