Sperm defects in primary ciliary dyskinesia and related causes of male infertility

Anu Sironen (Lead / Corresponding author), Amelia Shoemark, Mitali Patel, Michael R. Loebinger, Hannah M. Mitchison

Research output: Contribution to journalReview articlepeer-review

117 Citations (Scopus)
112 Downloads (Pure)


The core axoneme structure of both the motile cilium and sperm tail has the same ultrastructural 9 + 2 microtubular arrangement. Thus, it can be expected that genetic defects in motile cilia also have an effect on sperm tail formation. However, recent studies in human patients, animal models and model organisms have indicated that there are differences in components of specific structures within the cilia and sperm tail axonemes. Primary ciliary dyskinesia (PCD) is a genetic disease with symptoms caused by malfunction of motile cilia such as chronic nasal discharge, ear, nose and chest infections and pulmonary disease (bronchiectasis). Half of the patients also have situs inversus and in many cases male infertility has been reported. PCD genes have a role in motile cilia biogenesis, structure and function. To date mutations in over 40 genes have been identified cause PCD, but the exact effect of these mutations on spermatogenesis is poorly understood. Furthermore, mutations in several additional axonemal genes have recently been identified to cause a sperm-specific phenotype, termed multiple morphological abnormalities of the sperm flagella (MMAF). In this review, we discuss the association of PCD genes and other axonemal genes with male infertility, drawing particular attention to possible differences between their functions in motile cilia and sperm tails.

Original languageEnglish
Pages (from-to)2029-2048
Number of pages20
JournalCellular and Molecular Life Sciences
Issue number11
Early online date28 Nov 2019
Publication statusPublished - Jun 2020


  • Axoneme
  • Cilia
  • Dynein
  • Infertility
  • MMAF
  • Motility
  • PCD
  • Sperm tail

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Pharmacology
  • Cellular and Molecular Neuroscience
  • Cell Biology


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