Abstract
Transposable elements (TEs) comprise nearly half of the human genome and play an essential role in the maintenance of genomic stability, chromosomal architecture, and transcriptional regulation. TEs are repetitive sequences consisting of RNA transposons, DNA transposons, and endogenous retroviruses that can invade the human genome with a substantial contribution in human evolution and genomic diversity. TEs are therefore firmly regulated from early embryonic development and during the entire course of human life by epigenetic mechanisms, in particular DNA methylation and histone modifications. The deregulation of TEs has been reported in some developmental diseases, as well as for different types of human cancers. To date, the role of TEs, the mechanisms underlying TE reactivation, and the interplay with DNA methylation in human cancers remain largely unexplained. We reviewed the loss of epigenetic regulation and subsequent genomic instability, chromosomal aberrations, transcriptional deregulation, oncogenic activation, and aberrations of non-coding RNAs as the potential mechanisms underlying TE deregulation in human cancers.
Highlights
Over two-thirds of the human genome is composed of repetitive sequences [1]
Two aberrant ERBB4 transcripts are found in almost a quarter of ALK-negative anaplastic large cell lymphoma (ALCL) patients [19]
To obtain a better understanding of this emerging area of research, we reviewed the current evidence on the deregulation of Transposable elements (TEs) by epigenetic mechanisms, especially DNA methylation and non-coding RNAs, and their potential contribution to the development of human cancers through genomic instability, chromosomal aberrations, and oncogenic activation
Summary
Over two-thirds of the human genome is composed of repetitive sequences [1]. Transposable elements (TEs), which make up the majority of repetitive sequences (up to 50% of the human genome), can jump within the genome and play an important role as an engine for the dynamics of human evolution and the pathogenesis of human cancers [2]. Two aberrant ERBB4 transcripts are found in almost a quarter of ALK-negative ALCL patients [19] Despite their important roles in genome regulation, the detailed mechanisms of TE reactivation in tumor development remain largely unexplained. To obtain a better understanding of this emerging area of research, we reviewed the current evidence on the deregulation of TEs by epigenetic mechanisms, especially DNA methylation and non-coding RNAs, and their potential contribution to the development of human cancers through genomic instability, chromosomal aberrations, and oncogenic activation. Mutations and the deregulation of chromatin remodeling genes are closely related with human cancers of different etiologies [47,48] Their direct effects on the reactivation of repetitive elements in cancers to initiate genomic instability and oncogenic activation need to be clarified [49,50]
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