The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

Abstract

Primary ciliary dyskinesia (PCD) is characterized by dysfunction of respiratory cilia and sperm flagella and random determination of visceral asymmetry. Here, we identify the DRC1 subunit of the nexin-dynein regulatory complex (N-DRC), an axonemal structure critical for the regulation of dynein motors, and show that mutations in the gene encoding DRC1, CCDC164, are involved in PCD pathogenesis. Loss-of-function mutations disrupting DRC1 result in severe defects in assembly of the N-DRC structure and defective ciliary movement in Chlamydomonas reinhardtii and humans. Our results highlight a role for N-DRC integrity in regulating ciliary beating and provide the first direct evidence that mutations in DRC genes cause human disease.

Detaljer

Författare
  • Maureen Wirschell
  • Heike Olbrich
  • Claudius Werner
  • Douglas Tritschler
  • Raqual Bower
  • Winfield S. Sale
  • Niki T. Loges
  • Petra Pennekamp
  • Sven Lindberg
  • Unne Stenram
  • Birgitta Carlén
  • Elisabeth Horak
  • Gabriele Koehler
  • Peter Nuernberg
  • Gudrun Nuernberg
  • Mary E. Porter
  • Heymut Omran
Enheter & grupper
Forskningsområden

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Oto-rino-laryngologi
  • Cancer och onkologi
Originalspråkengelska
Sidor (från-till)262-268
TidskriftNature Genetics
Volym45
Utgåva nummer3
StatusPublished - 2013
PublikationskategoriForskning
Peer review utfördJa