Human Molecular Genetics, Vol 7, 1947-1952, Copyright © 1998 by Oxford University Press
ST Winokur and R Shiang
The TCOF1 gene product, treacle, responsible for the craniofacial disorder
Treacher Collins syndrome, has been predicted to be a member of a class of
nucleolar phosphoproteins based on its primary amino acid sequence. Treacle
is a low complexity protein with ten repeating units of acidic and basic
residues, each of which contains a large number of putative casein kinase 2
and protein kinase C phosphorylation sites. In addition, the C-terminus of
treacle contains multiple putative nuclear localization signals. The
overall structure of treacle, as well as sequence similarity to several
nucleolar phosphoproteins, predicts that treacle is a member of this class
of proteins. Using green fluorescent protein fusion constructs with the
full-length and deleted domains of the murine homolog of treacle, we
demonstrate that the cellular localization of treacle is nucleolar. This
localization is mediated by the last 41 residues of the C-terminus
(residues 1262-1302). At least two functional nuclear localization signals
have been identified in the protein, one between residues 1176 and 1270 and
the second within the last 32 residues of the protein (1271-1302). The
nucleolar localization signal is disrupted by two constructs that split the
C-terminal region between residues 1270 and 1271. This study provides the
first direct analysis of treacle and demonstrates that the protein involved
in TCOF1 is a nucleolar protein.
ARTICLES
The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus
Department of Biological Chemistry, University of California, Irvine, CA 92697, USA.
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