Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2049804 | FEBS Letters | 2009 | 5 Pages |
Abstract
Mutations in the X-linked gene, DKC1, encoding dyskerin, cause dyskeratosis congenita by leading to decreased telomerase activity and causing short telomeres. Dyskerin is also a pseudouridine synthase that modifies nascent ribosomal and other RNAs and it is not known if this function is affected by the mutations. Here we show that newly synthesized ribosomal RNA, extracted from human and mouse cells with pathogenic mutations, shows anomalous mobility in agarose gels under certain denaturation conditions. The anomalously migrating RNA is turned over rapidly. Analysis of ribosomal RNA in these cells suggests the altered mobility is due to inefficient pseudouridylation.
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Authors
Bai-Wei Gu, Chunjun Zhao, Jian-Meng Fan, Qing Dai, Monica Bessler, Philip J. Mason,