Chromosome positioning and male infertility: it comes with the territory

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11 Citations (Scopus)


© 2018, Springer Science+Business Media, LLC, part of Springer Nature. 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.
Original languageEnglish
Pages (from-to)1929-1938
JournalJournal of Assisted Reproduction and Genetics
Issue number11
Publication statusPublished - 1 Nov 2018


  • Chromosome territories
  • Gene regulation
  • Human spermatogenesis
  • Male infertility


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