Multi-omics and male infertility status integration and future prospects

Abstract

Within the cell, gene expression analysis is the key to gain information about different cellular and physiological events. The multifaceted route of fertilization is a combination of different processes, which include production, maturation and ejaculation of the sperm, its travel through the female genital tract, followed by the ultimate fusion of the fertile sperm with the egg. Early embryogenesis and gametogenesis as well as gene expression at tissue level and global gene silencing are under different levels of stringent epigenetic checks. Moreover, transcriptome (expressed segment of the genome in form of RNA) and the proteome (expressed set of genomic proteins) contribute uniformly to the overall cellular gene expression. In both normal and pathophysiological environments, this gene expression is altered across various levels viz., genome variations, post-transcriptional modifications, protein expression and post translational modifications. Consequently, more informative conclusions can be drawn through a new 'omics' approach of system biology, which takes into account all the genomics, epigenomics, proteomics, and metabolomics findings under one roof, thus computing the alterations in all the entities (genes, proteins, metabolites) concurrently.

Novel Techniques of Sperm Selection for Improving IVF and ICSI Outcomes

“…In addition, single cell analysis of the telomere length of human spermatozoa also revealed intra-sample heterogeneity with no differences between normal or abnormal spermatozoa (Antunes et al, 2015). These new findings included in the –omics fields reveal the high level of complexity of the ejaculate and the intimate association between these features and male infertility (for a comprehensive review on sperm –omics, we direct the reader to Sinha et al, 2017). The deep study of the genome, epigenome, transcriptome, proteome, and metabolome at the single cell level or in specific sperm subpopulations is expected to reveal higher levels of complexity than the currently known.…”

A systematic review on the genetics of male infertility in the era of next-generation sequencing

“…The work we review here focuses entirely on the use of NGS to uncover genetic variants in male infertility; however, NGS has now been adapted to uses outside of genomic investigations, including for example transcriptomics, epigenetics, and investigations of the microbiome [reviewed in [61] , [62] , [63] , [64] . Whilst such efforts have already begun addressing problems pertinent to male infertility (e.g., sperm cell transcriptomics [65] ), single-sperm cell genotyping [66] , spermatocyte methylation analysis [67] , seminal microbiome profiling [68] , these efforts have not reached mainstream analysis of large cohorts of affected patients.…”