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Retrotransposon-Derived Regulatory Regions and Transcripts in Stemness

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Human Retrotransposons in Health and Disease

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Summary

Transposable elements (TEs) have contributed greatly to the regulatory landscape of many cell types, including to human embryonic stem cells. In this chapter we summarize recent studies that have shown that TE insertions have silenced nearby genes, introduced transcription factor-binding sites, as well as produced novel transcripts including those that are translated into viral particles and those that are functional as noncoding RNA. We focus on presenting results on human and other mammalian pluripotent stem cells because of their importance in studying human health and evolution. Finally we also discuss the applications, implications, and questions that are raised from this newfound knowledge.

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Abbreviations

ERV:

Endogenous retrovirus

ESC:

Embryonic stem cell

HERVH:

Human endogenous retrovirus histidine

iPSC:

Induced PSC

LINE:

Long interspersed nuclear element

lncRNA:

Long noncoding RNA

LTR:

Long terminal repeat

PSC:

Pluripotent stem cell

RABS:

Repeat associated binding site

SINE:

Short interspersed nuclear element

TE:

Transposable element

TF:

Transcription factor

TFBS:

Transcription factor-binding site

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Acknowledgements

This work was supported by a grant from the Canadian Institute for Health Research (CIHR-MOP-115090). GB is supported by the Fonds de Recherche Santé Québec (FRSQ-25348).

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Authors and Affiliations

  1. Department of Human Genetics, McGill University, Montréal, QC, Canada

    Zhaohui Su & Guillaume Bourque

  2. McGill University and Génome Québec Innovation Center, Montréal, QC, Canada

    Guillaume Bourque

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  1. Zhaohui Su
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  2. Guillaume Bourque
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Correspondence to Guillaume Bourque .

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Editors and Affiliations

  1. Institute for Research on Cancer and Aging of Nice (IRCAN), French National Institute of Health and Medical Research (INSERM), Centre National de la Recherche Scientifique (CNRS), Faculty of Medicine, University of Nice-Sophia Antipolis (UNS), Université Côte d’Azur (UCA), Nice, France

    Gael Cristofari

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Su, Z., Bourque, G. (2017). Retrotransposon-Derived Regulatory Regions and Transcripts in Stemness. In: Cristofari, G. (eds) Human Retrotransposons in Health and Disease. Springer, Cham. https://doi.org/10.1007/978-3-319-48344-3_8

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