Borok Matthew J, Zaidan Louai, Relaix Frederic
University Paris-Est Créteil, INSERM U955 IMRB, Créteil, 94010, France.
École Nationale Vétérinaire d'Alfort U955 IMRB, Maisons-Alfort, 94700, France.
Mob DNA. 2025 Apr 11;16(1):18. doi: 10.1186/s13100-025-00352-1.
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.
转座子及其衍生物在人类基因组中占很大比例,但它们并非仅仅是古代基因组的遗迹。它们仍可被表达,有可能影响相邻基因的转录,有时甚至能对其编码序列有所贡献。活跃的转座子可整合到基因组中的新位点,有可能改变附近基因座的表达并导致遗传疾病。在本综述中,我们重点介绍了探索转座子在骨骼肌中的表达以及KRAB-ZFP/KAP1/SETDB1复合体对其转录调控的研究工作。接下来,我们将关注转座子插入导致表型变异和不同类型肌肉营养不良的具体案例,以及转座子表达在免疫性肌病中的意义。最后,我们将讨论转座子在面肩肱型肌营养不良和衰老过程中的失调情况。