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Review
. 2025 Aug 21:S0168-9525(25)00171-4.
doi: 10.1016/j.tig.2025.07.007. Online ahead of print.

Genetic and epigenetic landscape of male infertility

Emma R James  1 , Maliha Tasnim  1 , Antoni Riera-Escamilla  2 , Katinka Vigh-Conrad  2 , Benjamin R Emery  1 , Donald F Conrad  2 , Kenneth I Aston  3
Affiliations
Review

Genetic and epigenetic landscape of male infertility

Emma R James et al. Trends Genet. .

Abstract

Male infertility is a global health problem, affecting up to 6% of reproductive age men worldwide. It has an enormous personal and societal burden, along with public health implications beyond the inability to reproduce, including reduced future health and longevity. While the impact of infertility has long been appreciated, the molecular architecture of the disease is largely unknown. Nevertheless, the past decade has witnessed significant advances in our understanding of the molecular basis of male infertility. Here, we describe the contributions of genetic and epigenetic mechanisms to infertility-associated phenotypes and their impact beyond reproduction. This review focuses on progress in understanding defects in sperm production and function, and the potential impact of these advances on diagnosis, treatments, and improved health.

Keywords: azoospermia; epigenetics; genetics; male infertility.

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Conflict of interest statement

Declaration of interests KIA and BRE are shareholders in Paterna Biosciences, a male infertility diagnostic company.

References

    1. Amann RP and Howards SS (1980) Daily spermatozoal production and epididymal spermatozoal reserves of the human male. J Urol 124, 211–215 - PubMed
    1. Ginsburg M, et al. (1990) Primordial germ cells in the mouse embryo during gastrulation. Development 110, 521–528 - PubMed
    1. Heller CH and Clermont Y (1964) Kinetics of the Germinal Epithelium in Man. Recent Prog Horm Res 20, 545–575 - PubMed
    1. Djureinovic D, et al. (2014) The human testis-specific proteome defined by transcriptomics and antibody-based profiling. Mol Hum Reprod 20, 476–488 - PubMed
    1. Hammoud SS, et al. (2009) Distinctive chromatin in human sperm packages genes for embryo development. Nature 460, 473–478 - PMC - PubMed

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