Human Molecular Genetics, Vol 6, 727-737, Copyright © 1997 by Oxford University Press
J Dixon, K Hovanes, R Shiang and MJ Dixon
The gene mutated in Treacher Collins syndrome, an autosomal dominant
disorder of facial development, has recently been cloned. While the
function of the predicted protein, Treacle, is unknown, it has been shown
to share a number of features with the highly phosphorylated nucleolar
phosphoproteins, which play a role in nucleolar-cytoplasmic transport. In
the current study, the murine homologue of the Treacher Collins syndrome
gene has been isolated and shown to encode a low complexity,
serine/alanine-rich protein of 133 kDa. Interspecies comparison indicates
that the proteins display 61.5% identity, with the level of conservation
being greatest in the regions of acidic/basic amino acid repeats and
nuclear localization signals. These features are shared with the nucleolar
phosphoproteins. Confirmation that the gene isolated in the current study
is orthologous with the Treacher Collins syndrome gene was provided by the
demonstration that it mapped to central mouse chromosome 18 in a conserved
syntenic region with human chromosome 5q21-q33. Expression analysis in the
mouse indicated that the gene was expressed in a wide variety of embryonic
and adult tissues. Peak levels of expression in the developing embryo were
observed at the edges of the neural folds immediately prior to fusion, and
also in the developing branchial arches at the times of critical
morphogenetic events. These observations support a role for the gene in the
development of the craniofacial complex and provide further evidence that
the gene encodes a protein which may be involved in nucleolar-cytoplasmic
transport.
ARTICLES
Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1
School of Biological Sciences and Department of Dental Medicine, University of Manchester, UK.
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