@article{85336,
  author = {Aarti Tarkar and Niki Loges and Christopher Slagle and Richard Francis and Gerard Dougherty and Joel Tamayo V and Brett Shook and Marie Cantino and Daniel Schwartz and Charlotte Jahnke and Heike Olbrich and Claudius Werner and Johanna Raidt and Petra Pennekamp and Marouan Abouhamed and Rim Hjeij and Gabriele K{\"o}hler and Matthias Griese and You Li and Kristi Lemke and Nikolas Klena and Xiaoqin Liu and George Gabriel and Kimimasa Tobita and Martine Jaspers and Lucy Morgan and Adam Shapiro and Stef Letteboer and Dorus Mans and Johnny Carson and Margaret Leigh and Whitney Wolf and Serafine Chen and Jane Lucas and Alexandros Onoufriadis and Vincent Plagnol and Miriam Schmidts and Karsten Boldt and UK10K and Ronald Roepman and Maimoona Zariwala and Cecilia Lo and Hannah Mitchison and Michael Knowles and Rebecca Burdine and Joseph Loturco and Heymut Omran},
  title = {DYX1C1 is required for axonemal dynein assembly and ciliary motility.},
  abstract = {<p>DYX1C1 has been associated with dyslexia and neuronal migration in the developing neocortex. Unexpectedly, we found that deleting exons 2-4 of Dyx1c1 in mice caused a phenotype resembling primary ciliary dyskinesia (PCD), a disorder characterized by chronic airway disease, laterality defects and male infertility. This phenotype was confirmed independently in mice with a Dyx1c1 c.T2A start-codon mutation recovered from an N-ethyl-N-nitrosourea (ENU) mutagenesis screen. Morpholinos targeting dyx1c1 in zebrafish also caused laterality and ciliary motility defects. In humans, we identified recessive loss-of-function DYX1C1 mutations in 12 individuals with PCD. Ultrastructural and immunofluorescence analyses of DYX1C1-mutant motile cilia in mice and humans showed disruptions of outer and inner dynein arms (ODAs and IDAs, respectively). DYX1C1 localizes to the cytoplasm of respiratory epithelial cells, its interactome is enriched for molecular chaperones, and it interacts with the cytoplasmic ODA and IDA assembly factor DNAAF2 (KTU). Thus, we propose that DYX1C1 is a newly identified dynein axonemal assembly factor (DNAAF4).</p>},
  year = {2013},
  journal = {Nature genetics},
  volume = {45},
  pages = {995-1003},
  month = {09/2013},
  issn = {1546-1718},
  doi = {10.1038/ng.2707},
  language = {eng},
}