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euL1db: the European database of L1HS retrotransposon insertions in humans

Retrotransposons account for almost half of our genome. They are mobile genetics elements—also known as jumping genes—but only the L1HS subfamily of Long Interspersed Nuclear Elements (LINEs) has retained the ability to jump autonomously in modern humans. Their mobilization in germline—but also some...

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Detalles Bibliográficos
Autores principales: Mir, Ashfaq A., Philippe, Claude, Cristofari, Gaël
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383891/
https://www.ncbi.nlm.nih.gov/pubmed/25352549
http://dx.doi.org/10.1093/nar/gku1043
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author Mir, Ashfaq A.
Philippe, Claude
Cristofari, Gaël
author_facet Mir, Ashfaq A.
Philippe, Claude
Cristofari, Gaël
author_sort Mir, Ashfaq A.
collection PubMed
description Retrotransposons account for almost half of our genome. They are mobile genetics elements—also known as jumping genes—but only the L1HS subfamily of Long Interspersed Nuclear Elements (LINEs) has retained the ability to jump autonomously in modern humans. Their mobilization in germline—but also some somatic tissues—contributes to human genetic diversity and to diseases, such as cancer. Here, we present euL1db, the European database of L1HS retrotransposon insertions in humans (available at http://euL1db.unice.fr). euL1db provides a curated and comprehensive summary of L1HS insertion polymorphisms identified in healthy or pathological human samples and published in peer-reviewed journals. A key feature of euL1db is its sample-wise organization. Hence L1HS insertion polymorphisms are connected to samples, individuals, families and clinical conditions. The current version of euL1db centralizes results obtained in 32 studies. It contains >900 samples, >140 000 sample-wise insertions and almost 9000 distinct merged insertions. euL1db will help understanding the link between L1 retrotransposon insertion polymorphisms and phenotype or disease.
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spelling pubmed-43838912015-04-08 euL1db: the European database of L1HS retrotransposon insertions in humans Mir, Ashfaq A. Philippe, Claude Cristofari, Gaël Nucleic Acids Res Database Issue Retrotransposons account for almost half of our genome. They are mobile genetics elements—also known as jumping genes—but only the L1HS subfamily of Long Interspersed Nuclear Elements (LINEs) has retained the ability to jump autonomously in modern humans. Their mobilization in germline—but also some somatic tissues—contributes to human genetic diversity and to diseases, such as cancer. Here, we present euL1db, the European database of L1HS retrotransposon insertions in humans (available at http://euL1db.unice.fr). euL1db provides a curated and comprehensive summary of L1HS insertion polymorphisms identified in healthy or pathological human samples and published in peer-reviewed journals. A key feature of euL1db is its sample-wise organization. Hence L1HS insertion polymorphisms are connected to samples, individuals, families and clinical conditions. The current version of euL1db centralizes results obtained in 32 studies. It contains >900 samples, >140 000 sample-wise insertions and almost 9000 distinct merged insertions. euL1db will help understanding the link between L1 retrotransposon insertion polymorphisms and phenotype or disease. Oxford University Press 2014-10-28 2015-01-28 /pmc/articles/PMC4383891/ /pubmed/25352549 http://dx.doi.org/10.1093/nar/gku1043 Text en © The Author(s) 2014. Published by Oxford University Press on behalf of Nucleic Acids Research. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Database Issue
Mir, Ashfaq A.
Philippe, Claude
Cristofari, Gaël
euL1db: the European database of L1HS retrotransposon insertions in humans
title euL1db: the European database of L1HS retrotransposon insertions in humans
title_full euL1db: the European database of L1HS retrotransposon insertions in humans
title_fullStr euL1db: the European database of L1HS retrotransposon insertions in humans
title_full_unstemmed euL1db: the European database of L1HS retrotransposon insertions in humans
title_short euL1db: the European database of L1HS retrotransposon insertions in humans
title_sort eul1db: the european database of l1hs retrotransposon insertions in humans
topic Database Issue
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383891/
https://www.ncbi.nlm.nih.gov/pubmed/25352549
http://dx.doi.org/10.1093/nar/gku1043
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