ArticleNature genetics2012
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 157 papers, 1 of them a synthesis that pooled it.
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Who cites it
157 citing papers in PubMed, 1 synthesis or guideline pooled it, 279 citations in OpenAlex.
- European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.The European respiratory journal · 2017Guideline
- Protocol for gene knockdown in Trichoplax adhaerens using a silica nanoparticle-mediated RNA interference technique.STAR protocols · 2026Article
- Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar.Clinical genetics · 2026Article
- Cfap300 regulates the transdifferentiation of Corpuscle of Stannius cells in zebrafish.Cell communication and signaling : CCS · 2026Article
- Culture method for promoting efficient ciliary growth in themicroPublication biology · 2026Article
- Identification of a NovelCase reports in genetics · 2026Article
- CFAP300 loss-of-function variant causes primary ciliary dyskinesia and male infertility via disrupting sperm flagellar assembly and acrosome formation.Asian journal of andrology · 2025Article
- Structural diversity and unity amongst axonemal dynein assembly factors.Journal of cell science · 2025Review
- DynAPs and cytoplasmic assembly of axonemal dyneins.Journal of cell science · 2025Article
- Article
- Phyloproteomics reveals conserved patterns of axonemal dynein methylation across the motile ciliated eukaryotes.Molecular biology of the cell · 2025Article
- Article
- Diagnostic Role of Immunofluorescence Analysis in Primary Ciliary Dyskinesia-Suspected Individuals.Journal of clinical medicine · 2025Article
- Cotranslational molecular condensation of cochaperones and assembly factors facilitates axonemal dynein biogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Distribution and bulk flow analyses of the intraflagellar transport (IFT) motor kinesin-2 support an "on-demand" model for Chlamydomonas ciliary length control.Cytoskeleton (Hoboken, N.J.) · 2024Article
- A novel homozygous mutation in the DNAAF3 gene leads to severe asthenozoospermia and teratospermia.Journal of cellular and molecular medicine · 2024Article
- Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.Military Medical Research · 2024Review
- The methylome of motile cilia.Molecular biology of the cell · 2024Article
- Gene dosage of independent dynein arm motor preassembly factors influences cilia assembly in Chlamydomonas reinhardtii.PLoS genetics · 2024Article
- Methylation of ciliary dynein motors involves the essential cytosolic assembly factor DNAAF3/PF22.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
97 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
16 authors at 8 institutions in 7 countries.
Funding
Abstract
Primary ciliary dyskinesia most often arises from loss of the dynein motors that power ciliary beating. Here we show that DNAAF3 (also known as PF22), a previously uncharacterized protein, is essential for the preassembly of dyneins into complexes before their transport into cilia. We identified loss-of-function mutations in the human DNAAF3 gene in individuals from families with situs inversus and defects in the assembly of inner and outer dynein arms. Knockdown of dnaaf3 in zebrafish likewise disrupts dynein arm assembly and ciliary motility, causing primary ciliary dyskinesia phenotypes that include hydrocephalus and laterality malformations. Chlamydomonas reinhardtii PF22 is exclusively cytoplasmic, and a PF22-null mutant cannot assemble any outer and some inner dynein arms. Altered abundance of dynein subunits in mutant cytoplasm suggests that DNAAF3 (PF22) acts at a similar stage as other preassembly proteins, for example, DNAAF2 (also known as PF13 or KTU) and DNAAF1 (also known as ODA7 or LRRC50), in the dynein preassembly pathway. These results support the existence of a conserved, multistep pathway for the cytoplasmic formation of assembly competent ciliary dynein complexes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.