Ontology highlight
ABSTRACT:
SUBMITTER: Gu BW
PROVIDER: S-EPMC2745346 | biostudies-literature | 2009 Sep
REPOSITORIES: biostudies-literature
Gu Bai-Wei BW Zhao Chunjun C Fan Jian-Meng JM Dai Qing Q Bessler Monica M Mason Philip J PJ
FEBS letters 20090902 18
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 co ...[more]