Intron retention induced by microsatellite expansions as a disease biomarker

Sznajder Lukasz J.; Thomas James D.; Carrell Ellie M.Reid TammyMcFarland Karen N.Cleary John D.Oliveira RuanNutter Curtis A.Bhatt KirtiSobczak KrzysztofAshizawa TetsuoThornton Charles A.Ranum Laura P. W.Swanson Maurice S.

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Intron retention induced by microsatellite expansions as a disease biomarker

机译：Intron retention induced by microsatellite expansions as a disease biomarker

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Expansions of simple sequence repeats, or microsatellites, have been linked to similar to 30 neurological-neuromuscular diseases. While these expansions occur in coding and noncoding regions, microsatellite sequence and repeat length diversity is more prominent in introns with eight different trinucleotide to hexanucleotide repeats, causing hereditary diseases such as myotonic dystrophy type 2 (DM2), Fuchs endothelial corneal dystrophy (FECD), and C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (C9-ALS/FTD). Here, we test the hypothesis that these GC-rich intronic microsatellite expansions selectively trigger host intron retention (IR). Using DM2, FECD, and C9-ALS/FTD as examples, we demonstrate that retention is readily detectable in affected tissues and peripheral blood lymphocytes and conclude that IR screening constitutes a rapid and inexpensive biomarker for intronic repeat expansion disease.

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《Proceedings of the National Academy of Sciences of the United States of America.》 |2018年第16期|4234-4239|共6页
作者
Sznajder Lukasz J.; Thomas James D.; Carrell Ellie M.Reid TammyMcFarland Karen N.Cleary John D.Oliveira RuanNutter Curtis A.Bhatt KirtiSobczak KrzysztofAshizawa TetsuoThornton Charles A.Ranum Laura P. W.Swanson Maurice S.;
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作者单位

Adam Mickiewicz Univ, Inst Mol Biol & Biotechnol, Dept Gene Express, PL-61614 Poznan, Poland;

Houston Methodist Hosp, Neurol Inst, Houston, TX 77030 USA;

Univ Florida, Coll Med, Dept Mol Genet & Microbiol, Ctr NeuroGenet, Gainesville, FL 32610 USAUniv Rochester, Dept Neurol, Rochester, NY 14642 USAUniv Florida, Coll Med, McKnight Brain Inst, Dept Neurol, Gainesville, FL 32610 USA;

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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
amyotrophic lateral sclerosis; intron retention; microsatellite; myotonic dystrophy; RNA splicing;

Intron retention induced by microsatellite expansions as a disease biomarker

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