Regulation of gene expression by the BLM helicase correlates with the presence of G-quadruplex DNA motifs

Giang Huong Nguyen; Weiliang Tang; Ana I. RoblesRichard P. BeyerLucas T. GrayJudith A. WelshAaron J. SchetterKensuke KumamotoXin Wei WangIan D. HicksonNancy MaizelsRaymond J. Monna JrCurtis C. Harris

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Regulation of gene expression by the BLM helicase correlates with the presence of G-quadruplex DNA motifs

机译：Regulation of gene expression by the BLM helicase correlates with the presence of G-quadruplex DNA motifs

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Bloom syndrome is a rare autosomal recessive disorder characterized by genetic instability and cancer predisposition, and caused by mutations in the gene encoding the Bloom syndrome, RecQ helicase-like (BLM) protein. To determine whether altered gene expression might be responsible for pathological features of Bloom syndrome, we analyzed mRNA and microRNA (miRNA) expression in fibroblasts from individuals with Bloom syndrome and in BLM-depleted control fibroblasts. We identified mRNA and miRNA expression differences in Bloom syndrome patient and BLMdepleted cells. Differentially expressed mRNAs are connected with cell proliferation, survival, and molecular mechanisms of cancer, and differentially expressed miRNAs target genes involved in cancer and in immune function. These and additional altered functions or pathways may contribute to the proportional dwarfism, elevated cancer risk, immune dysfunction, and other features observed in Bloom syndrome individuals. BLM binds to G-quadruplex (G4) DNA, and G4 motifs were enriched at transcription start sites (TSS) and especially within first introns (false discovery rate ≤ 0.001) of differentially expressed mRNAs in Bloom syndrome compared with normal cells, suggesting that G-quadruplex structures formed at these motifs are physiologic targets for BLM. These results identify a network of mRNAs and miRNAs that may drive the pathogenesis of Bloom syndrome.

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《Proceedings of the National Academy of Sciences of the United States of America》 |2014年第27期|9905-9910|共6页
作者
Giang Huong Nguyen; Weiliang Tang; Ana I. RoblesRichard P. BeyerLucas T. GrayJudith A. WelshAaron J. SchetterKensuke KumamotoXin Wei WangIan D. HicksonNancy MaizelsRaymond J. Monna JrCurtis C. Harris;
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作者单位

Pathology, eImmunology and Biochemistry, University of Washington, Seattle, WA 98195;

Laboratory of Human Carcinogenesis, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892;

Center for Ecogenetics and Environmental Health, University of Washington, Seattle, WA 98105Immunology and Biochemistry, University of Washington, Seattle, WA 98195Department of Medical Oncology, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, United Kingdom;

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收录信息美国《科学引文索引》(SCI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
原文格式 PDF
正文语种英语
中图分类自然科学总论;
关键词
Regulation; gene; expression;

Regulation of gene expression by the BLM helicase correlates with the presence of G-quadruplex DNA motifs

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