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Retrotransposition in tumors and brains
LINE-1s (L1s), the only currently active autonomous mobile DNA in humans, occupy at least 17% of human DNA. Throughout evolution, the L1 has also been responsible for genomic insertion of thousands of processed pseudogenes and over one million nonautonomous retrotransposons called SINEs (mainly Alus...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2014
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995500/ https://www.ncbi.nlm.nih.gov/pubmed/24708615 http://dx.doi.org/10.1186/1759-8753-5-11 |
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author | Goodier, John L |
author_facet | Goodier, John L |
author_sort | Goodier, John L |
collection | PubMed |
description | LINE-1s (L1s), the only currently active autonomous mobile DNA in humans, occupy at least 17% of human DNA. Throughout evolution, the L1 has also been responsible for genomic insertion of thousands of processed pseudogenes and over one million nonautonomous retrotransposons called SINEs (mainly Alus and SVAs). The 6-kb human L1 has a 5′- untranslated region (UTR) that functions as an internal promoter, two open reading frames—ORF1, which encodes an RNA-binding protein, and ORF2, which expresses endonuclease and reverse transcriptase activities—and a 3′-UTR which ends in a poly(A) signal and tail. Most L1s are molecular fossils: truncated, rearranged or mutated. However, 80 to 100 remain potentially active in any human individual, and to date 101 de novo disease-causing germline retrotransposon insertions have been characterized. It is now clear that significant levels of retrotransposition occur not only in the human germline but also in some somatic cell types. Recent publications and new investigations under way suggest that this may especially be the case for cancers and neuronal cells. This commentary offers a few points to consider to aid in avoiding misinterpretation of data as these studies move forward. |
format | Online Article Text |
id | pubmed-3995500 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-39955002014-04-23 Retrotransposition in tumors and brains Goodier, John L Mob DNA Commentary LINE-1s (L1s), the only currently active autonomous mobile DNA in humans, occupy at least 17% of human DNA. Throughout evolution, the L1 has also been responsible for genomic insertion of thousands of processed pseudogenes and over one million nonautonomous retrotransposons called SINEs (mainly Alus and SVAs). The 6-kb human L1 has a 5′- untranslated region (UTR) that functions as an internal promoter, two open reading frames—ORF1, which encodes an RNA-binding protein, and ORF2, which expresses endonuclease and reverse transcriptase activities—and a 3′-UTR which ends in a poly(A) signal and tail. Most L1s are molecular fossils: truncated, rearranged or mutated. However, 80 to 100 remain potentially active in any human individual, and to date 101 de novo disease-causing germline retrotransposon insertions have been characterized. It is now clear that significant levels of retrotransposition occur not only in the human germline but also in some somatic cell types. Recent publications and new investigations under way suggest that this may especially be the case for cancers and neuronal cells. This commentary offers a few points to consider to aid in avoiding misinterpretation of data as these studies move forward. BioMed Central 2014-04-07 /pmc/articles/PMC3995500/ /pubmed/24708615 http://dx.doi.org/10.1186/1759-8753-5-11 Text en Copyright © 2014 Goodier; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. 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 | Commentary Goodier, John L Retrotransposition in tumors and brains |
title | Retrotransposition in tumors and brains |
title_full | Retrotransposition in tumors and brains |
title_fullStr | Retrotransposition in tumors and brains |
title_full_unstemmed | Retrotransposition in tumors and brains |
title_short | Retrotransposition in tumors and brains |
title_sort | retrotransposition in tumors and brains |
topic | Commentary |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995500/ https://www.ncbi.nlm.nih.gov/pubmed/24708615 http://dx.doi.org/10.1186/1759-8753-5-11 |
work_keys_str_mv | AT goodierjohnl retrotranspositionintumorsandbrains |