{"doi":"10.17615/z79a-w507","title":"DYX1C1 is required for axonemal dynein assembly and ciliary motility","abstract":"Dyx1c1 has been associated with dyslexia and neuronal migration in the developing neocortex. Unexpectedly, we found that deletion of Dyx1c1 exons 2–4 in mice caused a phenotype resembling primary ciliary dyskinesia (PCD), a genetically heterogeneous disorder characterized by chronic airway disease, laterality defects, and male infertility. This phenotype was confirmed independently in mice with a Dyx1c1c.T2A start codon mutation recovered from an ENU mutagenesis screen. Morpholinos targeting dyx1c1 in zebrafish also created laterality and ciliary motility defects. In humans, recessive loss-of-function DYX1C1 mutations were identified in twelve PCD individuals. Ultrastructural and immunofluorescence analyses of DYX1C1-mutant motile cilia in mice and humans revealed disruptions of outer and inner dynein arms (ODA/IDA). DYX1C1 localizes to the cytoplasm of respiratory epithelial cells, its interactome is enriched for molecular chaperones, and it interacts with the cytoplasmic ODA/IDA assembly factor DNAAF2/KTU. Thus, we propose that DYX1C1 is a newly identified dynein axonemal assembly factor (DNAAF4).","journal":"UNC Libraries","year":2020,"id":139679,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9498,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":314377,"name":"Cecilia Lo","orcid":"0000-0003-4314-3434","position":1,"is_corresponding":false},{"id":598294,"name":"Hannah M. Mitchison","orcid":"0000-0002-3163-6293","position":2,"is_corresponding":false},{"id":302583,"name":"Michael R. Knowles","orcid":"0000-0002-4672-5969","position":3,"is_corresponding":false},{"id":302579,"name":"Maimoona A. Zariwala","orcid":"0000-0003-1619-1393","position":4,"is_corresponding":false},{"id":282607,"name":"Ronald Roepman","orcid":"0000-0002-5178-8163","position":5,"is_corresponding":false},{"id":393549,"name":"Miriam Schmidts","orcid":"0000-0002-1714-6749","position":6,"is_corresponding":false},{"id":531497,"name":"Vincent Plagnol","orcid":"0000-0002-5597-9215","position":7,"is_corresponding":false},{"id":603756,"name":"Joseph J. LoTurco","orcid":null,"position":8,"is_corresponding":false},{"id":282611,"name":"Heymut Omran","orcid":"0000-0003-0282-6765","position":9,"is_corresponding":false},{"id":34883,"name":"Karsten Boldt","orcid":"0000-0002-2693-689X","position":10,"is_corresponding":false},{"id":30102,"name":"Rebecca D. Burdine","orcid":"0000-0001-6620-5015","position":0,"is_corresponding":true}],"reference_count":0,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-18T23:17:13.583586Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}