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ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.

American journal of human genetics | 2013

The motive forces for ciliary movement are generated by large multiprotein complexes referred to as outer dynein arms (ODAs), which are preassembled in the cytoplasm prior to transport to the ciliary axonemal compartment. In humans, defects in structural components, docking complexes, or cytoplasmic assembly factors can cause primary ciliary dyskinesia (PCD), a disorder characterized by chronic airway disease and defects in laterality. By using combined high resolution copy-number variant and mutation analysis, we identified ARMC4 mutations in twelve PCD individuals whose cells showed reduced numbers of ODAs and severely impaired ciliary beating. Transient suppression in zebrafish and analysis of an ENU mouse mutant confirmed in both model organisms that ARMC4 is critical for left-right patterning. We demonstrate that ARMC4 is an axonemal protein that is necessary for proper targeting and anchoring of ODAs.

Pubmed ID: 23849778 RIS Download

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Associated grants

  • Agency: NIDDK NIH HHS, United States
    Id: DK072301
  • Agency: NHGRI NIH HHS, United States
    Id: U54 HG006542
  • Agency: NINDS NIH HHS, United States
    Id: 5R0/NS058529
  • Agency: NIDDK NIH HHS, United States
    Id: R01 DK072301
  • Agency: NHLBI NIH HHS, United States
    Id: U54 HL096458
  • Agency: NHLBI NIH HHS, United States
    Id: U01 HL098180
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL071798
  • Agency: NHGRI NIH HHS, United States
    Id: 5U54HG006542
  • Agency: NCRR NIH HHS, United States
    Id: U54 RR019480
  • Agency: NHLBI NIH HHS, United States
    Id: U01-HL098180
  • Agency: NHGRI NIH HHS, United States
    Id: U54 HG003273
  • Agency: NHLBI NIH HHS, United States
    Id: U54 HL096458-10
  • Agency: NINDS NIH HHS, United States
    Id: R01 NS058529

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OMIM (tool)

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Online catalog of human genes and genetic disorders, for clinical features, phenotypes and genes. Collection of human genes and genetic phenotypes, focusing on relationship between phenotype and genotype. Referenced overviews in OMIM contain information on all known mendelian disorders and variety of related genes. It is updated daily, and entries contain copious links to other genetics resources.

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RRID:SCR_013189

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