publication . Conference object . Preprint . 2017

Human PGBD5 DNA transposase promotes site-specific oncogenic mutations in rhabdoid tumors

Casie Reed; Elizabeth Mullen; Scott A. Armstrong; Cristina R. Antonescu; Zhiping Weng; Stephen P. Jackson; Andrew N. Blackford; Richard Koche; Alex Kentsis; Catherine Reeves; ...
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Open Access
  • Published: 23 Feb 2017
  • Publisher: Georg Thieme Verlag KG
Abstract
<jats:title>Abstract</jats:title><jats:p>Genomic rearrangements are a hallmark of childhood solid tumors, but their mutational causes remain poorly understood. Here, we identify the <jats:italic>piggyBac transposable element derived 5</jats:italic> (<jats:italic>PGBD5</jats:italic>) gene as an enzymatically active human DNA transposase expressed in the majority of rhabdoid tumors, a lethal childhood cancer. Using assembly-based whole-genome DNA sequencing, we observed previously unknown somatic genomic rearrangements in primary human rhabdoid tumors. These rearrangements were characterized by deletions and inversions involving PGBD5-specific signal (PSS) sequenc...
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doi: 10.1055/s-0037-1602202 , 10.1101/111138
Subjects
free text keywords: Transposase, Cancer research, Rhabdoid tumors, DNA, chemistry.chemical_compound, chemistry, Biology, Transposable element, Gene, Ectopic expression, Genetics, DNA repair, Somatic cell, DNA sequencing
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NIH| Administrative Core
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Administrative Core
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5P50CA140146-04
  • Funding stream: NATIONAL CANCER INSTITUTE
, NIH| MOUSE GENETICS
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MOUSE GENETICS
  • Funder: National Institutes of Health (NIH)
  • Project Code: 2P30CA008748-43
  • Funding stream: NATIONAL CANCER INSTITUTE
, NIH| Aberrant activation of HGF/MET signaling as a therapeutic target in AML
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Aberrant activation of HGF/MET signaling as a therapeutic target in AML
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5K08CA160660-02
  • Funding stream: NATIONAL CANCER INSTITUTE
, NIH| Clinical and Translational Science Center
Project
Clinical and Translational Science Center
  • Funder: National Institutes of Health (NIH)
  • Project Code: 3UL1TR000457-08S1
  • Funding stream: NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES
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  • Funder: Wellcome Trust (WT)
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Preprint . 2017
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