{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T00:28:08Z","timestamp":1790036888180,"version":"4.0.1"},"reference-count":36,"publisher":"American Society for Cell Biology (ASCB)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["MBoC"],"published-print":{"date-parts":[[2000,9]]},"abstract":"<jats:p>Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development caused by mutations in the geneTCOF1. Its gene product, treacle, consists mainly of a central repeat domain, which shows it to be structurally related to the nucleolar phosphoprotein Nopp140. Treacle remains mostly uncharacterized to date. Herein we show that it, like Nopp140, is a highly phosphorylated nucleolar protein. However, treacle fails to colocalize with Nopp140 to Cajal (coiled) bodies. As in the case of Nopp140, casein kinase 2 appears to be responsible for the unusually high degree of phosphorylation as evidenced by its coimmunoprecipitation with treacle. Based on these and other observations, treacle and Nopp140 exhibit distinct but overlapping functions. The majority of TCOF1 mutations in TCS lead to premature termination codons that could affect the cellular levels of the full-length treacle. We demonstrate however, that the cellular amount of treacle varies less than twofold among a collection of primary fibroblasts and lymphoblasts and regardless of whether the cells were derived from TCS patients or healthy individuals. Therefore, cells of TCS patients possess a mechanism to maintain wild-type levels of full-length treacle from a single allele.<\/jats:p>","DOI":"10.1091\/mbc.11.9.3061","type":"journal-article","created":{"date-parts":[[2013,7,2]],"date-time":"2013-07-02T23:59:12Z","timestamp":1372809552000},"page":"3061-3071","source":"Crossref","is-referenced-by-count":95,"title":["Characterization of the Nucleolar Gene Product, Treacle, in Treacher Collins Syndrome"],"prefix":"10.1091","volume":"11","author":[{"given":"Cynthia","family":"Isaac","sequence":"first","affiliation":[{"name":"Department of Anatomy and Structural Biology, Albert Einstein College of Medicine, Bronx, New York 10461;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen L.","family":"Marsh","sequence":"additional","affiliation":[{"name":"School of Biological Sciences and Departments of Dental Medicine and Surgery, University of Manchester, Manchester M13 9PT, United Kingdom; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Paznekas","sequence":"additional","affiliation":[{"name":"Center for Craniofacial Development and Disorders, McKusick-Nathans Institute of Genetic Medicine, Departments of Pediatrics, Medicine, and Plastic Surgery, The Johns Hopkins University School of Medicine Baltimore, Maryland 21287"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Dixon","sequence":"additional","affiliation":[{"name":"School of Biological Sciences and Departments of Dental Medicine and Surgery, University of Manchester, Manchester M13 9PT, United Kingdom; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Dixon","sequence":"additional","affiliation":[{"name":"School of Biological Sciences and Departments of Dental Medicine and Surgery, University of Manchester, Manchester M13 9PT, United Kingdom; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ethylin Wang","family":"Jabs","sequence":"additional","affiliation":[{"name":"Center for Craniofacial Development and Disorders, McKusick-Nathans Institute of Genetic Medicine, Departments of Pediatrics, Medicine, and Plastic Surgery, The Johns Hopkins University School of Medicine Baltimore, Maryland 21287"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U. 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