Unknown

Dataset Information

0

Anomalous electrophoretic migration of newly synthesized ribosomal RNAs and their precursors from cells with DKC1 mutations.


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.

SUBMITTER: Gu BW 

PROVIDER: S-EPMC2745346 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature

altmetric image

Publications

Anomalous electrophoretic migration of newly synthesized ribosomal RNAs and their precursors from cells with DKC1 mutations.

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]

Similar Datasets

2024-05-23 | PXD032938 | Pride
| S-EPMC1185102 | biostudies-other
| S-EPMC359670 | biostudies-other
| S-EPMC7422752 | biostudies-literature
| S-EPMC2637250 | biostudies-literature
| S-EPMC4893652 | biostudies-literature
| S-EPMC7320153 | biostudies-literature
| S-EPMC5007585 | biostudies-literature
2013-06-08 | E-GEOD-47530 | biostudies-arrayexpress
2013-06-08 | GSE47530 | GEO