{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Leventea E"],"funding":["Medical Research Council","RCUK | Biotechnology and Biological Sciences Research Council","Biotechnology and Biological Sciences Research Council"],"pagination":["e2102562118"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8285972"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["118(28)"],"pubmed_abstract":["Here, we report that important regulators of cilia formation and ciliary compartment-directed protein transport function in secretion polarity. Mutations in cilia genes <i>cep290</i> and <i>bbs2</i>, involved in human ciliopathies, affect apical secretion of Cochlin, a major otolith component and a determinant of calcium carbonate crystallization form. We show that Cochlin, defective in human auditory and vestibular disorder, DFNA9, is secreted from small specialized regions of vestibular system epithelia. Cells of these regions secrete Cochlin both apically into the ear lumen and basally into the basal lamina. Basally secreted Cochlin diffuses along the basal surface of vestibular epithelia, while apically secreted Cochlin is incorporated into the otolith. Mutations in a subset of ciliopa"],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pubmed_title":["Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factor."],"pmcid":["PMC8285972"],"funding_grant_id":["BB/R005192/1","BB/R015457/1","MR/N000714/1"],"pubmed_authors":["Fang X","Zhu Z","Malicki JJ","Markham E","Hirst RA","Leventea E","Nikolaeva Y","van Eeden FJM"],"additional_accession":[]},"is_claimable":false,"name":"Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factor.","description":"Here, we report that important regulators of cilia formation and ciliary compartment-directed protein transport function in secretion polarity. Mutations in cilia genes <i>cep290</i> and <i>bbs2</i>, involved in human ciliopathies, affect apical secretion of Cochlin, a major otolith component and a determinant of calcium carbonate crystallization form. We show that Cochlin, defective in human auditory and vestibular disorder, DFNA9, is secreted from small specialized regions of vestibular system epithelia. Cells of these regions secrete Cochlin both apically into the ear lumen and basally into the basal lamina. Basally secreted Cochlin diffuses along the basal surface of vestibular epithelia, while apically secreted Cochlin is incorporated into the otolith. Mutations in a subset of ciliopa","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Jul","modification":"2026-05-07T20:16:50.891Z","creation":"2022-02-11T14:56:42.646Z"},"accession":"S-EPMC8285972","cross_references":{"pubmed":["34244442"],"doi":["10.1073/pnas.2102562118"]}}