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Updated: May 14, 2025

Author Spotlight: Investigating mRNA Spatial Distribution in Drosophila Muscle Tissue
Published on: September 8, 2023
Transposon expression and repression in skeletal muscle
Matthew J Borok1, Louai Zaidan2, Frederic Relaix3,4,5,6
1University Paris-Est Créteil, INSERM U955 IMRB, Créteil, 94010, France. matthew.borok@inserm.fr.
Abstract:
Transposons and their derivatives make up a major proportion of the human genome, but they are not just relics of ancient genomes. They can still be expressed, potentially affecting the transcription of adjacent genes, and can sometimes even contribute to their coding sequence. Active transposons can integrate into new sites in the genome, potentially modifying the expression of nearby loci and leading to genetic disorders. In this review, we highlight work exploring the expression of transposons in skeletal muscles and transcriptional regulation by the KRAB-ZFP/KAP1/SETDB1 complex. We next focus on specific cases of transposon insertion causing phenotypic variation and distinct muscular dystrophies, as well as the implication of transposon expression in immune myopathies. Finally, we discuss the dysregulation of transposons in facioscapulohumeral dystrophy and aging.
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