The complexity of titin splicing pattern in human adult skeletal muscles

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Savarese , M , Jonson , P H , Huovinen , S , Paulin , L , Auvinen , P , Udd , B & Hackman , P 2018 , ' The complexity of titin splicing pattern in human adult skeletal muscles ' , Skeletal Muscle , vol. 8 , 11 . https://doi.org/10.1186/s13395-018-0156-z

Title: The complexity of titin splicing pattern in human adult skeletal muscles
Author: Savarese, Marco; Jonson, Per Harald; Huovinen, Sanna; Paulin, Lars; Auvinen, Petri; Udd, Bjarne; Hackman, Peter
Other contributor: University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Institute of Biotechnology
University of Helsinki, DNA Sequencing and Genomics
University of Helsinki, Medicum
University of Helsinki, Medicum




Date: 2018-03-29
Language: eng
Number of pages: 9
Belongs to series: Skeletal Muscle
ISSN: 2044-5040
DOI: https://doi.org/10.1186/s13395-018-0156-z
URI: http://hdl.handle.net/10138/234590
Abstract: Background: Mutations in the titin gene (TTN) cause a large spectrum of diseases affecting skeletal and/or cardiac muscle. TTN includes 363 coding exons, a repeated region with a high degree of complexity, isoform-specific elements, and metatranscript-only exons thought to be expressed only during fetal development. Although three main classes of isoforms have been described so far, alternative splicing events (ASEs) in different tissues or in different developmental and physiological states have been reported. Methods: To achieve a comprehensive view of titin ASEs in adult human skeletal muscles, we performed a RNA-Sequencing experiment on 42 human biopsies collected from 12 anatomically different skeletal muscles of 11 individuals without any skeletal-muscle disorders. Results: We confirmed that the skeletal muscle N2A isoforms are highly prevalent, but we found an elevated number of alternative splicing events, some at a very high level. These include previously unknown exon skipping events and alternative 5' and 3' splice sites. Our data suggests the partial inclusion in the TTN transcript of some metatranscript-only exons and the partial exclusion of canonical N2A exons. Conclusions: This study provides an extensive picture of the complex TTN splicing pattern in human adult skeletal muscle, which is crucial for a proper clinical interpretation of TTN variants.
Subject: Titin
Titinopathies
RNA-sequencing
Exon usage
Alternative splicing events
Splicing pattern
TISSUE-SPECIFIC EXPRESSION
RNA-SEQ
ISOFORMS
NEBULIN
GENE
CARDIOMYOPATHY
INVOLVEMENT
SEQUENCE
MUTATION
BINDING
3111 Biomedicine
1182 Biochemistry, cell and molecular biology
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