Research article summary (published 31 Aug 2009):

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

Full 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.

Author information

Author/s: Gu, Bai-Wei (BW); Zhao, Chunjun (C); Fan, Jian-Meng (JM); Dai, Qing (Q); Bessler, Monica (M); Mason, Philip J (PJ);

Affiliation: Division of Hematology, Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.

Grants: CA106995 (Agency:NCI NIH HHS) ; HL079556 (Agency:NHLBI NIH HHS)

Journal and publication information

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal: FEBS letters (FEBS Lett), published in Netherlands. (Language: eng)

Reference: 2009-Sep; vol 583 (issue 18) : pp 3086-90

Dates: Created 2009/09/15; Completed 2009/11/05;

PMID: 19729012, status: MEDLINE (last retrieval date: 11/5/2009, IMS Date: )

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Animals Cell Cycle Proteins - genetics Electrophoresis Humans Mice

Mutation Nuclear Proteins - genetics Pseudouridine - metabolism RNA Stability RNA, Ribosomal - biosynthesis; chemistry

Associated Chemicals: Cell Cycle Proteins (0) ; DKC1 protein, human (0) ; Dkc1 protein, mouse (0) ; Nuclear Proteins (0) ; RNA, Ribosomal (0) ; Pseudouridine (1445-07-4)

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