{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMotile cilia and flagella are critical for propelling fluid flow and enabling cell movement, and their proper function depends on the intricate assembly of multi‐protein complexes within the central microtubule apparatus. In particular, studies on components of the C1d projection – including CFAP221 (also known as PCDP1) and CFAP54 – have demonstrated that these proteins are expressed primarily in motile ciliated tissues and play a key role in maintaining ciliary beat frequency and coordinated movement. Disruption in these components leads to primary ciliary dyskinesia (PCD), evidenced by hydrocephalus, male infertility due to impaired spermatogenesis, and defective mucus clearance."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn complementary investigations, genetic models disrupting central pair apparatus (CPA) genes revealed that loss of function in combinations of these components (including CFAP221, CFAP54, and SPEF2) results in severe PCD-associated phenotypes. These studies indicate that while gross ciliary structure appears maintained, subtle defects in the central apparatus lead to impaired ciliary motility and an inability to complete spermiogenesis, underscoring critical genetic interactions essential for maintaining both ciliary and flagellar function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAlthough DMBT1L1 is not explicitly detailed in these abstracts, by analogy to other conserved CPA components, its putative function can be inferred. DMBT1L1 is likely to be involved in the assembly and stabilization of the C1d projection or in the regulatory complexes that modulate ciliary beat in a calcium-dependent manner. Such a role would be consistent with the contributions of its counterparts in ensuring proper fluid clearance and normal reproductive function, and suggests that mutations or alterations in DMBT1L1 may similarly compromise the integrity and performance of motile cilia."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Casey W McKenzie, Branch Craige, Tiffany V Kroeger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CFAP54 is required for proper ciliary motility and assembly of the central pair apparatus in mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.E15-02-0121"}], "href": "https://doi.org/10.1091/mbc.E15-02-0121"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26224312"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26224312"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Casey W McKenzie, Lance Lee "}, {"type": "b", "children": [{"type": "t", "text": "Genetic interaction between central pair apparatus genes CFAP221, CFAP54, and SPEF2 in mouse models of primary ciliary dyskinesia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-020-69359-3"}], "href": "https://doi.org/10.1038/s41598-020-69359-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32704025"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32704025"}]}]}]}