Retroelements in human disease

Kaer, Kristel; Speek, Mart

doi:10.1016/j.gene.2013.01.008

Cited by 135 publications

(96 citation statements)

References 108 publications

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“…4,16 SVAs can also induce alternative splicing and exon skipping which can result in the generation of alternative transcripts of a gene as documented by disease causing insertions. [17][18][19] Thus SVA insertions may generate new interactions between what would otherwise be distinct pathways. 8,20 In this communication, we suggest a more global involvement of genes associated with SVA insertions in CNS-relevant pathways.…”

Section: Discussionmentioning

confidence: 99%

Potential impact of primate-specific SVA retrotransposons during the evolution of human cognitive function

et al. 2017

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The SVA family of hominid-specific non-LTR retrotransposon comprises the youngest group of transposable elements in the human genome. The propagation of the most ancient SVA subfamily took place about 13.5 million years ago, and the youngest SVA subfamily appeared in the human genome after the human/chimpanzee divergence. Functional analysis of genes associated with SVA insertions demonstrated their link to multiple ontological categories, with one of the major categories being attributed to brain function. Further analysis of this subset demonstrated that SVA elements expanded their presence in the human genome at different stages of hominoid evolution and were associated with progressively evolving behavioral features that indicate a potential impact of SVA propagation on the cognitive ability of a modern human. Our analysis suggests a potential role of SVAs in the evolution of human central nervous system and especially in the emergence of functional trends relevant to social and parental behavior. Coevolution of behavioral features and reproductive functions are suggested by our analysis and discussed.

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Section: Discussionmentioning

confidence: 99%

Potential impact of primate-specific SVA retrotransposons during the evolution of human cognitive function

et al. 2017

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“…As a result of the involvement of L1-induced mutagenesis in the pathogenesis of some kinds of diseases, including cancer, 4,5 eukaryotic cells have developed several mechanisms to counteract L1 mobilization. Among them are the aforementioned siRNAs or piRNA-mediated mechanisms (Figure 1b).…”

Section: Structure and Retrotransposition Process Of L1mentioning

confidence: 99%

“…In this way, active L1s keep reshaping the human genome and become a source of endogenous mutagenesis that causes individual genome variation and can participate in the pathogenesis of many genetic diseases, including cancer. [3][4][5] Cancer is a genetic disease resulting from accumulated genetic mutations, to which L1 can be one contributor. In this review, we discuss the putative multilayered functions of L1s in cancer and their potential for clinical implications, with a focus on recent advances.…”

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confidence: 99%

LINE-1 in cancer: multifaceted functions and potential clinical implications

Han

et al. 2016

Genetics in Medicine

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ReviewThe human genome is abundant with interspersed repetitive sequences originated from retrotransposons. Until now, three categories of retrotransposons have remained unequivocally active: LINE-1(L1), Alu, and SVA elements. The first one is autonomous-capable of self-propagation through RNA intermediates-and the latter two are nonautonomous and thus rely on L1 for mobilization. There are approximately 500,000 L1 copies in the human genome, composing 17% of human DNA.

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“…Endogenous retroviruses (ERVs) and LINEs have the ability to replicate autonomously through the copy-and-paste mechanism typical of this class of genetic elements, whereas SINEs and SVAs depend for this on LINE-provided trans-acting functions such as reverse transcriptase (Finnegan 2012). To date, only an estimated 100 LINEs, less than a thousand Alu repeats, and between 20 and 50 SVAs are still mobilizationcompetent, yet these collectively account for thousands of somatic insertions and about one new germ line integrant every 20 human births, sometimes causing disease (Kaer and Speek 2013).…”

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confidence: 99%

Interplay of TRIM28 and DNA methylation in controlling human endogenous retroelements

et al. 2014

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Reverse transcription-derived sequences account for at least half of the human genome. Although these retroelements are formidable motors of evolution, they can occasionally cause disease, and accordingly are inactivated during early embryogenesis through epigenetic mechanisms. In the mouse, at least for endogenous retroviruses, important mediators of this process are the tetrapod-specific KRAB-containing zinc finger proteins (KRAB-ZFPs) and their cofactor TRIM28. The present study demonstrates that KRAB/TRIM28-mediated regulation is responsible for controlling a very broad range of human-specific endogenous retroelements (EREs) in human embryonic stem (ES) cells and that it exerts, as a consequence, a marked effect on the transcriptional dynamics of these cells. It further reveals reciprocal dependence between TRIM28 recruitment at specific families of EREs and DNA methylation. It finally points to the importance of persistent TRIM28-mediated control of ERE transcriptional impact beyond their presumed inactivation by DNA methylation.

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Retroelements in human disease

Cited by 135 publications

References 108 publications

Potential impact of primate-specific SVA retrotransposons during the evolution of human cognitive function

Potential impact of primate-specific SVA retrotransposons during the evolution of human cognitive function

LINE-1 in cancer: multifaceted functions and potential clinical implications

Interplay of TRIM28 and DNA methylation in controlling human endogenous retroelements

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