Special Issue "Male Infertility: From Genes to Genomes"

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Population and Evolutionary Genetics and Genomics".

Deadline for manuscript submissions: 15 December 2021.

Special Issue Editor

Prof. Dr. Zissis Mamuris
E-Mail Website
Guest Editor
Department of Biochemistry and Biotechnology, University of Thessaly, 41221 Larissa, Greece
Interests: population genetics; biodiversity; evolution; molecular markers; animal genomics
Special Issues and Collections in MDPI journals

Special Issue Information

Dear Colleagues,

Infertility is defined according to the WHO as the inability to conceive after at least 12 months of regular, unprotected sexual intercourse. It is an alarming global health issue, as it is estimated that 8–12% of couples of reproductive age suffer from infertility. The male factor interestingly contributes to 50% of all cases.

Male infertility is a complex disorder affected by an interplay between genetic and environmental factors. A large proportion of male infertility cases are also idiopathic. Semen analysis remains the cornerstone for its diagnosis, but today, in the era of genomics, next-generation sequencing (NGS) technologies, such as whole-exome and genome sequencing, offer the opportunity to simultaneously study numerous genes and identify new biomarkers. Additionally, it is estimated that approximately 10% of the human genome is involved in reproduction. Discoveries on the role of small RNAs and microRNAs in the spermatogenesis process are promising for the understanding of the mechanisms behind male infertility, too.

Thus, this Special Issue of Genes, entitled “Male Infertility: From Genes to Genomes”, aims to contribute to the identification of new genetic variants and genetic risk alleles associated with male infertility as well as to provide readers with updated information regarding recent advances in the field. In this regard, original research articles and reviews are both welcome.

Prof. Dr. Zissis Mamuris
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • male infertility
  • biomarkers
  • semen analysis
  • spermatogenesis
  • genetic variants
  • next-generation sequencing (NGS)

Published Papers

This special issue is now open for submission, see below for planned papers.

Planned Papers

The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.

Identification of PKA-RIa Interacting Proteins during Mouse Spermiogenesis

Abstract: PKA signaling plays various roles during mammalian spermatogenesis, ranging from regulation of gene expression to modulation of sperm motility. However, molecular mechanisms that govern the multifaceted functions of PKA during spermatogenesis remain largely unclear. We previously found that PKA regulatory subunit RIa and catalytic subunit Ca co-sediment with polyribosomal fractions on sucrose gradient of mouse testis lysate and stimulation of PKA activity facilitates protein synthesis in post-meiotic elongating spermatids, indicating that type I PKA is intricately associated with protein translation machinery and regulates protein synthesis during mouse spermiogenesis. Since PKA activity is often regulated by interacting proteins that form complexes with its regulatory subunits, identification of PKA-RIa interacting proteins in post-meiotic spermatogenic cells will facilitate our understanding of its regulatory roles in protein synthesis and spermiogenesis. In the present study, we applied yeast two-hybrid screen to identify PKA-RIa binding proteins, using cDNA library generated from mouse round and elongating spermatids. Numerous proteins were found to potentially interact with PKA-RIa, including proteostasis modulators, enzymes, cytoskeletal regulators and mitochondrial proteins, of which many are expressed specifically in testis. Consistently, examination of MENA (mouse ENA/VASP homolog) in developing mouse testis suggested that post-meiotic spermatogenic cells express the short isoform of MENA, which interacts with PKA-RIa in yeast two-hybrid assay. The identification of PKA-RIa interacting proteins provides us solid basis to further explore how PKA regulate protein synthesis and cellular morphogenesis during mouse spermatogenesis.

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