Journal
HUMAN MOLECULAR GENETICS
Volume 28, Issue 8, Pages 1312-1321Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddy432
Keywords
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Funding
- National Institutes of Health [RC2-HG005624, R01AR045653, R01HL045565, NS048843, DP5OD017865]
- Muscular Dystrophy Association [262023]
- Wellcome Trust [107562/Z/15/Z]
- Muscular Dystrophy UK
- Myotonic Dystrophy Support Group
- Wellcome Trust [107562/Z/15/Z] Funding Source: Wellcome Trust
- MRC [G0802629] Funding Source: UKRI
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Myotonic dystrophy (dystrophia myotonica, DM) is a multi-systemic disease caused by expanded CTG or CCTG microsatellite repeats. Characterized by symptoms in muscle, heart and central nervous system, among others, it is one of the most variable diseases known. A major pathogenic event in DM is the sequestration of muscleblind-like proteins by CUG or CCUG repeat-containing RNAs transcribed from expanded repeats, and differences in the extent of MBNL sequestration dependent on repeat length and expression level may account for some portion of the variability. However, many other cellular pathways are reported to be perturbed in DM, and the severity of specific disease symptoms varies among individuals. To help understand this variability and facilitate research into DM, we generated 120 RNASeq transcriptomes from skeletal and heart muscle derived from healthy and DM1 biopsies and autopsies. A limited number of DM2 and Duchenne muscular dystrophy samples were also sequenced. We analyzed splicing and gene expression, identified tissue-specific changes in RNA processing and uncovered transcriptome changes strongly correlating with muscle strength. We created a web resource at http://DMseq. org that hosts raw and processed transcriptome data and provides a lightweight, responsive interface that enables browsing of processed data across the genome.
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