The genetic architecture of morphological abnormalities of the sperm tail

  • Aminata Touré
  • Guillaume Martinez
  • Zine-Eddine Kherraf
  • Caroline Cazin
  • Julie Beurois
  • Christophe Arnoult
  • Pierre F. Ray
  • Charles CouttonEmail author
Part of the following topical collections:
  1. Molecular genetics of male infertility


Spermatozoa contain highly specialized structural features reflecting unique functions required for fertilization. Among them, the flagellum is a sperm-specific organelle required to generate the motility, which is essential to reach the egg. The flagellum integrity is, therefore, critical for normal sperm function and flagellum defects consistently lead to male infertility due to reduced or absent sperm motility defined as asthenozoospermia. Multiple morphological abnormalities of the flagella (MMAF), also called short tails, is among the most severe forms of sperm flagellum defects responsible for male infertility and is characterized by the presence in the ejaculate of spermatozoa being short, coiled, absent and of irregular caliber. Recent studies have demonstrated that MMAF is genetically heterogeneous which is consistent with the large number of proteins (over one thousand) localized in the human sperm flagella. In the past 5 years, genomic investigation of the MMAF phenotype allowed the identification of 18 genes whose mutations induce MMAF and infertility. Here we will review information about those genes including their expression pattern, the features of the encoded proteins together with their localization within the different flagellar protein complexes (axonemal or peri-axonemal) and their potential functions. We will categorize the identified MMAF genes following the protein complexes, functions or biological processes they may be associated with, based on the current knowledge in the field.



We thank the Cellular Imaging Facility of Institut Cochin (INSERM U1016, CNRS UMR8104, Université Paris Descartes), in particular, Alain Schmitt, Jean-Marc Massé and Azzedine Yacia for electron microscopy procedures.

Compliance with ethical standards

Conflict of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

Supplementary material

439_2020_2113_MOESM1_ESM.docx (52 kb)
Supplementary file1 (DOCX 52 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2020

Authors and Affiliations

  1. 1.Faculté de MédecineUniversité Paris Descartes, Sorbonne Paris CitéParisFrance
  2. 2.INSERM U1016Institut CochinParisFrance
  3. 3.Centre National de La Recherche Scientifique UMR8104ParisFrance
  4. 4.INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of InfertilityUniv. Grenoble AlpesGrenobleFrance
  5. 5.CHU Grenoble Alpes, UM de Génétique ChromosomiqueGrenobleFrance
  6. 6.CHU Grenoble Alpes, UM GI-DPIGrenobleFrance

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