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Gene Review:

Tcof1 - Treacher Collins Franceschetti syndrome 1,...

Mus musculus

Synonyms: AA408847, AW209012, Treacher Collins syndrome protein homolog, Treacle protein, treacle

Gonzales, B. et al., Mogass, M. et al., Dixon, J. et al.

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Disease relevance of Tcof1

Tcof1 heterozygous mice die perinatally as a result of severe craniofacial anomalies that include agenesis of the nasal passages, abnormal development of the maxilla, exencephaly and anophthalmia [1].

High impact information on Tcof1

Analysis of RNA isolated from wild-type and Tcof1+/- heterozygous mice embryos from strains that exhibit a lethal phenotype showed significant reduction in 2'-O-methylation at nucleotide C463 of 18S rRNA [2].
Antisense-mediated down-regulation of treacle expression in Xenopus laevis oocytes reduced 2'-O-methylation of pre-rRNA [2].
The function of treacle in pre-rRNA methylation is most likely mediated by its direct physical interaction with NOP56, a component of the ribonucleoprotein methylation complex [2].
These defects arise due to a massive increase in the levels of apoptosis in the prefusion neural folds, which are the site of the highest levels of Tcof1 expression [1].
Inhibition of Tcof1 expression by siRNA induced morphological changes in neuroblastoma cells that mimic differentiation [3].

Biological context of Tcof1

Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma [3].

Anatomical context of Tcof1

We manipulated the levels of Tcof1 and its protein treacle in a murine neuroblastoma cell line to identify downstream changes in gene expression using a microarray platform [3].

References

Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. Dixon, J., Brakebusch, C., Fässler, R., Dixon, M.J. Hum. Mol. Genet. (2000) [Pubmed]
The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. Gonzales, B., Henning, D., So, R.B., Dixon, J., Dixon, M.J., Valdez, B.C. Hum. Mol. Genet. (2005) [Pubmed]
Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma. Mogass, M., York, T.P., Li, L., Rujirabanjerd, S., Shiang, R. Biochem. Biophys. Res. Commun. (2004) [Pubmed]

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