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Retrotransposons and the Mammalian Germline

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Human Retrotransposons in Health and Disease

Abstract

Retrotransposons are an abundant class of mobile genetic elements in mammalian genomes that contribute to genetic instability and variation in the population by integrating at new sites in the genome. Retrotransposons need to be active in the germline so that new retrotransposon integrations can accumulate in the genome during evolution and therefore retrotransposons contain sequences to drive their expression in cells in the germline. While mammals appear to have evolved mechanisms in the germline to limit retrotransposon activity and the resulting mutational load, retrotransposons also appear to be contributing to the regulation of gene expression and driving evolution of transcriptional networks in germline cells. This review will discuss the interplay between retrotransposons and their host cells in the mammalian germline, the genome defence systems that germ cells and pluripotent cells use to limit the mutagenic activity of retrotransposons, and the impact that retrotransposons are having on the biology of mammalian germ cells and pluripotent cells.

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Acknowledgements

I thank the MRC for funding research in this area in my laboratory through an intramural programme grant from MRC Human Genetics Unit. I am extremely grateful to Chris Playfoot and Jose Luis Garcia-Perez (both MRC Human Genetics Unit, Edinburgh) for their critical comments and excellent suggestions on this chapter.

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  1. MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK

    Ian R. Adams

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  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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Adams, I.R. (2017). Retrotransposons and the Mammalian Germline. In: Cristofari, G. (eds) Human Retrotransposons in Health and Disease. Springer, Cham. https://doi.org/10.1007/978-3-319-48344-3_1

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