Transposon expression and repression in skeletal muscle
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 trans...
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BMC
2025-04-01
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| Series: | Mobile DNA |
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| Online Access: | https://doi.org/10.1186/s13100-025-00352-1 |
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| author | Matthew J. Borok Louai Zaidan Frederic Relaix |
| author_facet | Matthew J. Borok Louai Zaidan Frederic Relaix |
| author_sort | Matthew J. Borok |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-502b2ad97eba49dc8cf507b781ce5f83 |
| institution | OA Journals |
| issn | 1759-8753 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Mobile DNA |
| spelling | doaj-art-502b2ad97eba49dc8cf507b781ce5f832025-08-20T02:12:06ZengBMCMobile DNA1759-87532025-04-0116111310.1186/s13100-025-00352-1Transposon expression and repression in skeletal muscleMatthew J. Borok0Louai Zaidan1Frederic Relaix2University Paris-Est Créteil, INSERM U955 IMRBUniversity Paris-Est Créteil, INSERM U955 IMRBUniversity Paris-Est Créteil, INSERM U955 IMRBAbstract 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.https://doi.org/10.1186/s13100-025-00352-1Transposable elementsSkeletal muscleMuscular dystrophy |
| spellingShingle | Matthew J. Borok Louai Zaidan Frederic Relaix Transposon expression and repression in skeletal muscle Mobile DNA Transposable elements Skeletal muscle Muscular dystrophy |
| title | Transposon expression and repression in skeletal muscle |
| title_full | Transposon expression and repression in skeletal muscle |
| title_fullStr | Transposon expression and repression in skeletal muscle |
| title_full_unstemmed | Transposon expression and repression in skeletal muscle |
| title_short | Transposon expression and repression in skeletal muscle |
| title_sort | transposon expression and repression in skeletal muscle |
| topic | Transposable elements Skeletal muscle Muscular dystrophy |
| url | https://doi.org/10.1186/s13100-025-00352-1 |
| work_keys_str_mv | AT matthewjborok transposonexpressionandrepressioninskeletalmuscle AT louaizaidan transposonexpressionandrepressioninskeletalmuscle AT fredericrelaix transposonexpressionandrepressioninskeletalmuscle |