Nature Communications (Feb 2018)

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

  • Charles Coutton,
  • Alexandra S. Vargas,
  • Amir Amiri-Yekta,
  • Zine-Eddine Kherraf,
  • Selima Fourati Ben Mustapha,
  • Pauline Le Tanno,
  • Clémentine Wambergue-Legrand,
  • Thomas Karaouzène,
  • Guillaume Martinez,
  • Serge Crouzy,
  • Abbas Daneshipour,
  • Seyedeh Hanieh Hosseini,
  • Valérie Mitchell,
  • Lazhar Halouani,
  • Ouafi Marrakchi,
  • Mounir Makni,
  • Habib Latrous,
  • Mahmoud Kharouf,
  • Jean-François Deleuze,
  • Anne Boland,
  • Sylviane Hennebicq,
  • Véronique Satre,
  • Pierre-Simon Jouk,
  • Nicolas Thierry-Mieg,
  • Beatrice Conne,
  • Denis Dacheux,
  • Nicolas Landrein,
  • Alain Schmitt,
  • Laurence Stouvenel,
  • Patrick Lorès,
  • Elma El Khouri,
  • Serge P. Bottari,
  • Julien Fauré,
  • Jean-Philippe Wolf,
  • Karin Pernet-Gallay,
  • Jessica Escoffier,
  • Hamid Gourabi,
  • Derrick R. Robinson,
  • Serge Nef,
  • Emmanuel Dulioust,
  • Raoudha Zouari,
  • Mélanie Bonhivers,
  • Aminata Touré,
  • Christophe Arnoult,
  • Pierre F. Ray

DOI
https://doi.org/10.1038/s41467-017-02792-7
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 18

Abstract

Read online

Asthenozoospermia is a major cause of male infertility, and multiple morphological abnormalities of the flagella (MMAF) is a particularly severe form. Here, using whole-exome sequencing of 78 MMAF patients, the authors identify mutations in two WDR proteins, CFAP43 and CFAP44, and confirm that these proteins are required for flagellogenesis in mouse and Trypanosoma brucei.