{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Although none of the abstracts directly examine CFAP298, its putative function can be inferred from the collective insights into ciliary assembly and motility presented in these studies. In several reports, defective pre‐assembly and trafficking of axonemal dynein arms – essential for motile cilia function in processes such as respiratory mucociliary clearance, embryonic laterality determination, and gamete transport – were traced to mutations in key cytoplasmic dynein arm assembly factors (DNAAFs) and associated co‐chaperone complexes (e.g. PIH1D3, ZMYND10, and WDR92)."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " Similarly, studies on genes required for proper dynein assembly and axonemal organization – such as those describing recurrent deletions in DRC1 that underlie primary ciliary dyskinesia"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "– emphasize the central importance of cytoplasmic pre‐assembly and regulation of dynein motor complexes."}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n By analogy, CFAP298 (a “Cilia and Flagella Associated Protein”) likely participates in similar regulatory pathways. Its membership in the CFAP family suggests that it may contribute to the integrity and/or assembly of axonemal components – for example by acting (directly or as part of a larger complex) to stabilize dynein subunits or facilitate their intracytoplasmic pre‐assembly and subsequent transport into the growing cilium. In this model, CFAP298 would help ensure proper formation of the ciliary axoneme and optimal motility, a function that is critical given that even subtle defects in these processes are associated with disorders such as primary ciliary dyskinesia and related conditions."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, while its direct role awaits experimental confirmation, CFAP298 is predicted to function as a critical facilitator of axonemal dynein motor assembly and/or stabilization within the cytoplasmic pre‐assembly pathway. This activity would be essential for building fully competent motile cilia, and by extension, for maintaining the diverse physiological processes that depend on correctly assembled ciliary structures.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Chiara Olcese, Mitali P Patel, Amelia Shoemark, et al. "}, {"type": "b", "children": [{"type": "t", "text": "X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms14279"}], "href": "https://doi.org/10.1038/ncomms14279"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28176794"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28176794"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Kyeong Jee Cho, Shin Hye Noh, Soo Min Han, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1007316"}], "href": "https://doi.org/10.1371/journal.pgen.1007316"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29601588"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29601588"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Guang Liu, Limei Wang, Junmin Pan "}, {"type": "b", "children": [{"type": "t", "text": "Chlamydomonas WDR92 in association with R2TP-like complex and multiple DNAAFs to regulate ciliary dynein preassembly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Cell Biol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/jmcb/mjy067"}], "href": "https://doi.org/10.1093/jmcb/mjy067"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30428028"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30428028"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Kozo Morimoto, Minako Hijikata, Maimoona A Zariwala, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Genomic Med (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mgg3.838"}], "href": "https://doi.org/10.1002/mgg3.838"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31270959"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31270959"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Kazuhiko Takeuchi, Yifei Xu, Masako Kitano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Genomic Med (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mgg3.1137"}], "href": "https://doi.org/10.1002/mgg3.1137"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31960620"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31960620"}]}]}]}