The ribosome assembly factor Nep1 responsible for Bowen–Conradi syndrome is a pseudouridine-N1-specific methyltransferase

@inproceedings{Wurm2010TheRA,
  title={The ribosome assembly factor Nep1 responsible for Bowen–Conradi syndrome is a pseudouridine-N1-specific methyltransferase},
  author={Jan Philip Wurm and Britta Meyer and U. T. E. Bahr and Martin Held and Olga Frolow and Peter Koetter and Joachim W. Engels and Alexander Heckel and Michael Karas and Karl-Dieter Entian and Jens W{\"o}hnert},
  booktitle={Nucleic acids research},
  year={2010}
}
Nep1 (Emg1) is a highly conserved nucleolar protein with an essential function in ribosome biogenesis. A mutation in the human Nep1 homolog causes Bowen-Conradi syndrome-a severe developmental disorder. Structures of Nep1 revealed a dimer with a fold similar to the SPOUT-class of RNA-methyltransferases suggesting that Nep1 acts as a methyltransferase in ribosome biogenesis. The target for this putative methyltransferase activity has not been identified yet. We characterized the RNA-binding… CONTINUE READING

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