{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T19:58:13Z","timestamp":1780343893628,"version":"3.54.1"},"reference-count":33,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T00:00:00Z","timestamp":1667433600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2014M3A9D5A01073969 2021R1A2C1012857 2014M3A9D5A01073865 2022R1A2C3007281"],"award-info":[{"award-number":["2014M3A9D5A01073969 2021R1A2C1012857 2014M3A9D5A01073865 2022R1A2C3007281"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cell Dev. Biol."],"abstract":"<jats:p>Primary cilia have essential roles as signaling centers during development and adult homeostasis. Disruption of ciliary structure or function causes congenital human disorders called ciliopathies. Centriolar distal appendage (DAP) proteins are important for anchoring cilia to the membrane. However, the exact functions of DAP during <jats:italic>in vivo<\/jats:italic> ciliogenesis and animal development remain poorly understood. Here, we showed that the DAP component sodium channel and clathrin linker 1 (Sclt1) mutant mice had abnormal craniofacial and limb development with postnatal lethality. In mutant embryos, most of the affected tissues had defects in DAP recruitment to the basal body and docking to the membrane that resulted in reduced ciliogenesis and disrupted hedgehog (Hh) signaling in limb bud mesenchymal cells. However, limb digit formation and ciliogenesis in <jats:italic>Sclt1<\/jats:italic> mutant mice were differentially affected between the fore- and hindlimb buds. The forelimbs developed normally in <jats:italic>Sclt1<\/jats:italic> mutants, but the hindlimbs had preaxial polydactyly. Heterozygous loss of <jats:italic>Cep83<\/jats:italic>, another core DAP component, in <jats:italic>Sclt1<\/jats:italic> mutant mice, caused forelimb and hindlimb polydactyly. These findings revealed the tissue-specific differential requirement of DAPs. Taken together, these results indicated that during limb development the ciliary base components, DAPs, play an essential role in ciliogenesis and Hh signaling <jats:italic>in vivo<\/jats:italic> in a position-dependent manner.<\/jats:p>","DOI":"10.3389\/fcell.2022.1058895","type":"journal-article","created":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T09:09:48Z","timestamp":1667466588000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Tissue-specific requirement of sodium channel and clathrin linker 1 (Sclt1) for ciliogenesis during limb development"],"prefix":"10.3389","volume":"10","author":[{"given":"Hankyu","family":"Lee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyeong-Hye","family":"Moon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jieun","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suyeon","family":"Je","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinwoong","family":"Bok","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyuk Wan","family":"Ko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,11,3]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1002\/humu.22477","article-title":"Ciliary genes TBC1D32\/C6orf170 and SCLT1 are mutated in patients with OFD type IX","volume":"35","author":"Adly","year":"2014","journal-title":"Hum. 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