The complexity of titin splicing pattern in human adult skeletal muscles.

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.

Re

SUBMITTER: Savarese M 

PROVIDER: S-EPMC5874998 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature