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Anomalous electrophoretic migration of newly synthesized ribosomal RNAs and their precursors from cells with DKC1 mutations
Author(s) -
Gu Bai-Wei,
Zhao Chunjun,
Fan Jian-Meng,
Dai Qing,
Bessler Monica,
Mason Philip J.
Publication year - 2009
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/j.febslet.2009.08.038
Subject(s) - dyskeratosis congenita , pseudouridine , telomere , ribosomal rna , rna , ribonucleoprotein , telomerase , small nucleolar rna , microbiology and biotechnology , biology , ribosomal protein , gene , genetics , chemistry , non coding rna , ribosome , transfer rna
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.