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Vol. 11, Issue 9, 3061-3071, September 2000
and
*Department of Anatomy and Structural Biology, Albert Einstein
College of Medicine, Bronx, New York 10461; Treacher Collins syndrome (TCS) is an autosomal dominant disorder
of craniofacial development caused by mutations in the gene TCOF1. 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.
School of
Biological Sciences and Departments of Dental Medicine and Surgery,
University of Manchester, Manchester M13 9PT, United Kingdom; and
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
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