Modomics - A Database of RNA Modifications


NameTreacher Collins syndrome (N:Nm)
DescriptionInhibition of the production of properly modified leading to impaired proliferation and differentiation of specific embryonic cells. Downregulated expression of treacle resulted in decrease 2'-O-Me of 18S pre-rRNA
Related RNA reactionN:Nm
Found in RNArRNA
Modified Transcript18S rRNA (position C463)
Mapping Technology
Quantification techniques2'-O-Methyl RNA-DNA chimera directed RNase H cleavage.

Enzymes connected to Treacher Collins syndrome:

Acronym Full name Enzyme Role Organism Comment
NOP56 NOP56 ribonucleoprotein Homo sapiens
TCOF1 treacle ribosome biogenesis factor 1 Homo sapiens


ID Title Authors Journal Details PubMed Id DOI
1122 The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNAmethylation. Gonzales B Hum Mol Genet [details] 15930015 ddi208