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Roles for retrotransposon insertions in human disease
Over evolutionary time, the dynamic nature of a genome is driven, in part, by the activity of transposable elements (TE) such as retrotransposons. On a shorter time scale it has been established that new TE insertions can result in single-gene disease in an individual. In humans, the non-LTR retrotr...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4859970/ https://www.ncbi.nlm.nih.gov/pubmed/27158268 http://dx.doi.org/10.1186/s13100-016-0065-9 |
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author | Hancks, Dustin C. Kazazian, Haig H. |
author_facet | Hancks, Dustin C. Kazazian, Haig H. |
author_sort | Hancks, Dustin C. |
collection | PubMed |
description | Over evolutionary time, the dynamic nature of a genome is driven, in part, by the activity of transposable elements (TE) such as retrotransposons. On a shorter time scale it has been established that new TE insertions can result in single-gene disease in an individual. In humans, the non-LTR retrotransposon Long INterspersed Element-1 (LINE-1 or L1) is the only active autonomous TE. In addition to mobilizing its own RNA to new genomic locations via a “copy-and-paste” mechanism, LINE-1 is able to retrotranspose other RNAs including Alu, SVA, and occasionally cellular RNAs. To date in humans, 124 LINE-1-mediated insertions which result in genetic diseases have been reported. Disease causing LINE-1 insertions have provided a wealth of insight and the foundation for valuable tools to study these genomic parasites. In this review, we provide an overview of LINE-1 biology followed by highlights from new reports of LINE-1-mediated genetic disease in humans. |
format | Online Article Text |
id | pubmed-4859970 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-48599702016-05-08 Roles for retrotransposon insertions in human disease Hancks, Dustin C. Kazazian, Haig H. Mob DNA Review Over evolutionary time, the dynamic nature of a genome is driven, in part, by the activity of transposable elements (TE) such as retrotransposons. On a shorter time scale it has been established that new TE insertions can result in single-gene disease in an individual. In humans, the non-LTR retrotransposon Long INterspersed Element-1 (LINE-1 or L1) is the only active autonomous TE. In addition to mobilizing its own RNA to new genomic locations via a “copy-and-paste” mechanism, LINE-1 is able to retrotranspose other RNAs including Alu, SVA, and occasionally cellular RNAs. To date in humans, 124 LINE-1-mediated insertions which result in genetic diseases have been reported. Disease causing LINE-1 insertions have provided a wealth of insight and the foundation for valuable tools to study these genomic parasites. In this review, we provide an overview of LINE-1 biology followed by highlights from new reports of LINE-1-mediated genetic disease in humans. BioMed Central 2016-05-06 /pmc/articles/PMC4859970/ /pubmed/27158268 http://dx.doi.org/10.1186/s13100-016-0065-9 Text en © Hancks and Kazazian. 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Review Hancks, Dustin C. Kazazian, Haig H. Roles for retrotransposon insertions in human disease |
title | Roles for retrotransposon insertions in human disease |
title_full | Roles for retrotransposon insertions in human disease |
title_fullStr | Roles for retrotransposon insertions in human disease |
title_full_unstemmed | Roles for retrotransposon insertions in human disease |
title_short | Roles for retrotransposon insertions in human disease |
title_sort | roles for retrotransposon insertions in human disease |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4859970/ https://www.ncbi.nlm.nih.gov/pubmed/27158268 http://dx.doi.org/10.1186/s13100-016-0065-9 |
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