Functional characterization of the human mariner transposon Hsmar2.

DNA transposons are mobile elements with the ability to mobilize and transport genetic information between different chromosomal loci. Unfortunately, most transposons copies are currently inactivated, little is known about mariner elements in humans despite their role in the evolution of the human g...

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Autores principales: Estel Gil, Assumpcio Bosch, David Lampe, Jose M Lizcano, Jose C Perales, Olivier Danos, Miguel Chillon
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Publicado: Public Library of Science (PLoS) 2013
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spelling oai:doaj.org-article:89aa1b2975ed46929838190c38e316882021-11-18T08:55:49ZFunctional characterization of the human mariner transposon Hsmar2.1932-620310.1371/journal.pone.0073227https://doaj.org/article/89aa1b2975ed46929838190c38e316882013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24039890/?tool=EBIhttps://doaj.org/toc/1932-6203DNA transposons are mobile elements with the ability to mobilize and transport genetic information between different chromosomal loci. Unfortunately, most transposons copies are currently inactivated, little is known about mariner elements in humans despite their role in the evolution of the human genome, even though the Hsmar2 transposon is associated to hotspots for homologous recombination involved in human genetic disorders as Charcot-Marie-Tooth, Prader-Willi/Angelman, and Williams syndromes. This manuscript describes the functional characterization of the human HSMAR2 transposase generated from fossil sequences and shows that the native HSMAR2 is active in human cells, but also in bacteria, with an efficiency similar to other mariner elements. We observe that the sub-cellular localization of HSMAR2 is dependent on the host cell type, and is cytotoxic when overexpressed in HeLa cells. Finally, we also demonstrate that the binding of HSMAR2 to its own ITRs is specific, and that the excision reaction leaves non-canonical footprints both in bacteria and eukaryotic cells.Estel GilAssumpcio BoschDavid LampeJose M LizcanoJose C PeralesOlivier DanosMiguel ChillonPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 9, p e73227 (2013)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Estel Gil
Assumpcio Bosch
David Lampe
Jose M Lizcano
Jose C Perales
Olivier Danos
Miguel Chillon
Functional characterization of the human mariner transposon Hsmar2.
description DNA transposons are mobile elements with the ability to mobilize and transport genetic information between different chromosomal loci. Unfortunately, most transposons copies are currently inactivated, little is known about mariner elements in humans despite their role in the evolution of the human genome, even though the Hsmar2 transposon is associated to hotspots for homologous recombination involved in human genetic disorders as Charcot-Marie-Tooth, Prader-Willi/Angelman, and Williams syndromes. This manuscript describes the functional characterization of the human HSMAR2 transposase generated from fossil sequences and shows that the native HSMAR2 is active in human cells, but also in bacteria, with an efficiency similar to other mariner elements. We observe that the sub-cellular localization of HSMAR2 is dependent on the host cell type, and is cytotoxic when overexpressed in HeLa cells. Finally, we also demonstrate that the binding of HSMAR2 to its own ITRs is specific, and that the excision reaction leaves non-canonical footprints both in bacteria and eukaryotic cells.
format article
author Estel Gil
Assumpcio Bosch
David Lampe
Jose M Lizcano
Jose C Perales
Olivier Danos
Miguel Chillon
author_facet Estel Gil
Assumpcio Bosch
David Lampe
Jose M Lizcano
Jose C Perales
Olivier Danos
Miguel Chillon
author_sort Estel Gil
title Functional characterization of the human mariner transposon Hsmar2.
title_short Functional characterization of the human mariner transposon Hsmar2.
title_full Functional characterization of the human mariner transposon Hsmar2.
title_fullStr Functional characterization of the human mariner transposon Hsmar2.
title_full_unstemmed Functional characterization of the human mariner transposon Hsmar2.
title_sort functional characterization of the human mariner transposon hsmar2.
publisher Public Library of Science (PLoS)
publishDate 2013
url https://doaj.org/article/89aa1b2975ed46929838190c38e31688
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