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Pàgina inicial > Articles > Articles publicats > Functional characterization of the human mariner transposon hsmar2 |
Data: | 2013 |
Resum: | 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. |
Ajuts: | Instituto de Salud Carlos III PI10-00561 Instituto de Salud Carlos III PS09/00720 Agència de Gestió d'Ajuts Universitaris i de Recerca 2009/SGR-1300 |
Drets: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. |
Llengua: | Anglès |
Document: | Article ; Versió publicada |
Matèria: | Genomic databases ; Sequence motif analysis ; Transposable elements ; Genome evolution ; HeLa cells |
Publicat a: | PloS one, Vol. 8, N. 9 (September 2013) , p. e73227, ISSN 1932-6203 |
12 p, 1.8 MB |