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Homo sapiens

ABSTRACT: Transcriptional profiling of Myotonic dystrophy muscle and heart

PROVIDER: PRJNA342787 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR4240750_1.fastq.gz	Fastqsanger.gz
	SRR4240750_2.fastq.gz	Fastqsanger.gz
	SRR4240760_1.fastq.gz	Fastqsanger.gz
	SRR4240760_2.fastq.gz	Fastqsanger.gz
	SRR4240770_1.fastq.gz	Fastqsanger.gz

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Transcriptional profiling of Myotonic dystrophy muscle and heart

Project description:Autopsy and biopsy muscle and heart tissue was collected from consented human subjects with and without confirmed myotonic dystrophy type 1, myotonic dystrophy type 2, or Duchenne muscular dystrophy. RNA was isolated for preparation of RNAseq libraries and sequenced on the Illumina platform.

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Project description:Misregulated alternative splicing appears to be a major factor in the pathogenesis of myotonic dystrophy. The present study was done to further explore alternative splicing in this condition by doing exon-level analysis of mRNA from skeletal muscle of 8 subjects with type 1 myotonic dystrophy, 7 subjects with type 2 myotonic dystrophy, 8 disease controls (subjects with facioscapulohumeral muscular dystrophy), and 8 healthy controls . The ratios of signals from the various exons of a gene provided an index of altered exon inclusion/exclusion that was independent of the overall expression of that gene. There were numerous transcripts for which there was evidence of abnormal alternative splicing in subjects with myotonic dystrophy. For many of these transcripts, the abnormal splicing was confirmed by an independent RT-PCR approach. 31 subjects, one sample per subject, four groups: healthy subjects (n = 8), facioscapulohumeral dystrophy (n = 8), type 1 myotonic dystrophy (n = 8), type 2 myotonic dystrophy (n = 7)

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Project description:The CUG-BP and ETR-3-like factor 1 (Celf1) RNA binding protein plays an important role in heart and muscle development, and is over-expressed in the disease myotonic dystrophy. Celf1 has known roles in regulation of RNA splicing, RNA stability, and protein translation. To identify transcriptome-wide targets of the Celf1 protein, we performed CLIP-seq against Celf1 using the 3B1 antibody, in myoblasts, heart tissue, and muscle tissue. RNA Bind-N-Seq was performed using recombinant CELF1 protein in the presence of competing amounts of recombinant MBNL1 protein.

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Functional Antagonism Between CELF and Mbnl Proteins in Cytoplasm and Nucleus [hearts]

Project description:The CUG-BP and ETR-3-like factor 1 (Celf1) RNA binding protein plays an important role in heart and muscle development, and is over-expressed in the disease myotonic dystrophy. Celf1 has known roles in regulation of RNA splicing, RNA stability, and protein translation. To identify transcriptome-wide targets of the Celf1 protein in heart, we performed RNA-Seq of polyA+ RNA from mice inducibly expressing Celf1 in the muscle.

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Project description:The CUG-BP and ETR-3-like factor 1 (Celf1) RNA binding protein plays an important role in heart and muscle development, and is over-expressed in the disease myotonic dystrophy. Celf1 has known roles in regulation of RNA splicing, RNA stability, and protein translation. To identify transcriptome-wide targets of the Celf1 protein in heart, we performed RNA-Seq of polyA+ RNA from mice inducibly expressing Celf1 in the muscle.

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Project description:Expression and Splicing Analysis of Myotonic Dystrophy and Other Dystrophic Muscle

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Ares Swanson MBNL mutant study

Project description:MBNL1 is a known splicing factor and is related to Myotonic Dystrophy (DM). This study examines the tissue specific splicing patterns of MBNL1 using a mutant and wild type mouse across three tissues (heart,brain,quadricep) related publications: Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy. Du H, etal Nat Struct Mol Biol. 2010 Feb;17(2):187-93. and Hum Mol Genet. 2006 Jul 1;15(13):2087-97. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, Moxley RT, Swanson MS, Thornton CA. We examined quadricep,heart and brain of a mouse MBNL1 mutant to test whether MBNL mutants creates a tissue specific splicing defect. These samples were compared to the tissues of a wild type mouse.

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