{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T23:47:22Z","timestamp":1791935242755,"version":"4.3.4"},"reference-count":62,"publisher":"Rockefeller University Press","issue":"6","content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2011,3,21]]},"abstract":"<jats:p>Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), and related ciliopathies present with overlapping phenotypes and display considerable allelism between at least twelve different genes of largely unexplained function. We demonstrate that the conserved C. elegans B9 domain (MKS-1, MKSR-1, and MKSR-2), MKS-3\/TMEM67, MKS-5\/RPGRIP1L, MKS-6\/CC2D2A, NPHP-1, and NPHP-4 proteins exhibit essential, collective functions at the transition zone (TZ), an underappreciated region at the base of all cilia characterized by Y-shaped assemblages that link axoneme microtubules to surrounding membrane. These TZ proteins functionally interact as members of two distinct modules, which together contribute to an early ciliogenic event. Specifically, MKS\/MKSR\/NPHP proteins establish basal body\/TZ membrane attachments before or coinciding with intraflagellar transport\u2013dependent axoneme extension and subsequently restrict accumulation of nonciliary components within the ciliary compartment. Together, our findings uncover a unified role for eight TZ-localized proteins in basal body anchoring and establishing a ciliary gate during ciliogenesis, and suggest that disrupting ciliary gate function contributes to phenotypic features of the MKS\/NPHP disease spectrum.<\/jats:p>","DOI":"10.1083\/jcb.201012116","type":"journal-article","created":{"date-parts":[[2011,3,21]],"date-time":"2011-03-21T13:04:34Z","timestamp":1300712674000},"page":"1023-1041","update-policy":"https:\/\/doi.org\/10.1083\/jcb.crossmarkpolicy","source":"Crossref","is-referenced-by-count":471,"title":["MKS and NPHP modules cooperate to establish basal body\/transition zone membrane associations and ciliary gate function during ciliogenesis"],"prefix":"10.1083","volume":"192","author":[{"given":"Corey L.","family":"Williams","sequence":"first","affiliation":[{"name":"Department of Cell Biology, University of Alabama at Birmingham Medical Center, Birmingham, AL 35294 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunmei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia V5A 1S6, Canada 2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Kida","sequence":"additional","affiliation":[{"name":"School of Biomolecular and Biomedical Science, UCD Conway Institute, University College Dublin, Belfield, Dublin 4, Ireland 3"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter N.","family":"Inglis","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia V5A 1S6, Canada 2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swetha","family":"Mohan","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia V5A 1S6, Canada 2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Semenec","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia V5A 1S6, Canada 2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan J.","family":"Bialas","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia V5A 1S6, Canada 2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel M.","family":"Stupay","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, University of Alabama at Birmingham Medical Center, Birmingham, AL 35294 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nansheng","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia V5A 1S6, Canada 2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver E.","family":"Blacque","sequence":"additional","affiliation":[{"name":"School of Biomolecular and Biomedical Science, UCD Conway Institute, University College Dublin, Belfield, Dublin 4, Ireland 3"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bradley K.","family":"Yoder","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, University of Alabama at Birmingham Medical Center, Birmingham, AL 35294 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel R.","family":"Leroux","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia V5A 1S6, Canada 2"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"291","published-online":{"date-parts":[[2011,3,21]]},"reference":[{"key":"2023072302240263600_bib1","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/j.dnarep.2007.10.004","article-title":"Nucleotide excision repair and the degradation of RNA pol II by the Caenorhabditis elegans XPA and Rsp5 orthologues, RAD-3 and WWP-1","volume":"7","author":"Astin","year":"2008","journal-title":"DNA Repair (Amst.)."},{"key":"2023072302240263600_bib2","doi-asserted-by":"publisher","first-page":"3859","DOI":"10.1242\/dev.02555","article-title":"General and cell-type specific mechanisms target TRPP2\/PKD-2 to cilia","volume":"133","author":"Bae","year":"2006","journal-title":"Development."},{"key":"2023072302240263600_bib3","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1002\/ajmg.c.30231","article-title":"Making sense of cilia in disease: the human ciliopathies","volume":"151C","author":"Baker","year":"2009","journal-title":"Am. 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