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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
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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


Anatomical context of Tcof1


  1. 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]
  2. 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]
  3. 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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