期刊
FEBS LETTERS
卷 583, 期 18, 页码 3086-3090出版社
WILEY
DOI: 10.1016/j.febslet.2009.08.038
关键词
Pseudouridine; Ribosomal RNA; Dyskerin; Electrophoretic mobility; Denaturing agarose gels
资金
- NCI
- NIH [CA106995, HL079556]
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. (C) 2009 Federation of European Biochemical Societies. Published by Elsevier B. V. All rights reserved.
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