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

被引:68
作者
Dixon, J
Hovanes, K
Shiang, R
Dixon, MJ
机构
[1] UNIV MANCHESTER,SCH BIOL SCI,MANCHESTER M13 9PT,LANCS,ENGLAND
[2] UNIV MANCHESTER,DEPT DENT MED,MANCHESTER M13 9PT,LANCS,ENGLAND
[3] UNIV MANCHESTER,DEPT SURG,MANCHESTER M13 9PT,LANCS,ENGLAND
[4] UNIV CALIF IRVINE,COLL MED,DEPT BIOL CHEM,IRVINE,CA 92717
基金
英国惠康基金;
关键词
D O I
10.1093/hmg/6.5.727
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
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页码:727 / 737
页数:11
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