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Chromosome positioning and male infertility: it comes with the territory

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Abstract

The production of functional spermatozoa through spermatogenesis requires a spatially and temporally highly regulated gene expression pattern, which in case of alterations, leads to male infertility. Changes of gene expression by chromosome anomalies, gene variants, and epigenetic alterations have been described as the main genetic causes of male infertility. Recent molecular and cytogenetic approaches have revealed that higher order chromosome positioning is essential for basic genome functions, including gene expression. This review addresses this issue by exposing well-founded evidences which support that alterations on the chromosome topology in spermatogenetic cells leads to defective sperm function and could be considered as an additional genetic cause of male infertility.

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Acknowledgments

The authors are members of a consolidated research group (2017 SGR-503) recognized by the Generalitat de Catalunya (Spain). This manuscript has been proofread by Proof-Reading-Service.org.

Funding

This study was supported by the Project CF-180034 (Universitat Autònoma de Barcelona, Spain) and Project SAF2016-77165-P (Ministerio de Economía y Competitividad, Spain). Mireia Solé is recipient of a grant from UAB (PIF/2015).

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Authors and Affiliations

  1. Genetics of Male Fertility Group. Unitat de Biologia Cel·lular. Departament de Biologia Cel·lular, Fisiologia i Immunologia. Facultat de Biociències, Universitat Autònoma de Barcelona, Bellaterra, 08193, Cerdanyola del Vallès, Spain

    Zaida Sarrate, Mireia Solé, Francesca Vidal, Ester Anton & Joan Blanco

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  1. Zaida Sarrate
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  2. Mireia Solé
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Correspondence to Zaida Sarrate.

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Sarrate, Z., Solé, M., Vidal, F. et al. Chromosome positioning and male infertility: it comes with the territory. J Assist Reprod Genet 35, 1929–1938 (2018). https://doi.org/10.1007/s10815-018-1313-3

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