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Title: Functional characterization of the human mariner transposon Hsmar2
Author: Gil, Estel
Bosch, Assumpció
Lampe, David
Lizcano, J.M.
Perales Losa, Carlos
Danos, Olivier
Chillón, M.
Keywords: Proteïnes portadores
Genoma humà
Carrier proteins
Human genome
Issue Date: 11-Sep-2013
Publisher: Public Library of Science (PLoS)
Abstract: 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.
Note: Reproducció del document publicat a:
It is part of: PLoS One, 2013, vol. 8, num. 9, p. e73227
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ISSN: 1932-6203
Appears in Collections:Articles publicats en revistes (Ciències Fisiològiques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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