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@ARTICLE{Smith:186736,
      author       = {C. Smith and A. Goyal$^*$ and D. Weichenhan$^*$ and E.
                      Allemand and A. Mayakonda$^*$ and U. Toprak$^*$ and A.
                      Riedel$^*$ and E. Balducci and M. Manojkumar$^*$ and A.
                      Pejkovska$^*$ and O. Mücke$^*$ and E. Sollier$^*$ and A. M.
                      A. Bakr$^*$ and K. Breuer$^*$ and P. Lutsik$^*$ and O.
                      Hermine and S. Spicuglia and V. Asnafi and C. Plass$^*$ and
                      A. Touzart$^*$},
      title        = {{TAL}1 activation in {T}-{C}ell acute lymphoblastic
                      leukemia: {A} novel oncogenic 3' neoenhancer.},
      journal      = {Haematologica},
      volume       = {108},
      number       = {5},
      issn         = {1592-8721},
      address      = {Pavia},
      publisher    = {Ferrata Storti Found},
      reportid     = {DKFZ-2023-00088},
      pages        = {1259-1271},
      year         = {2023},
      note         = {#EA:B370#LA:B370# / 2023 May 1;108(5):1259-1271},
      abstract     = {T-cell acute lymphocytic leukemia protein 1 (TAL1) is one
                      of the most frequently deregulated oncogenes in T-cell acute
                      lymphoblastic leukemia (T-ALL). Its deregulation can occur
                      through diverse in cis-alterations, including SIL-TAL1
                      microdeletions, translocations with Tcell Receptor (TCR)
                      loci and, more recently described upstream intergenic
                      non-coding mutations. These mutations consist of recurrent
                      focal microinsertions that create an oncogenic neo-enhancer
                      accompanied with activating epigenetic marks. This
                      observation laid the groundwork for an innovative paradigm,
                      the activation of proto-oncogenes via genomic alterations of
                      non-coding intergenic regions. However, for the majority of
                      TAL1 expressing (TAL1+) T-ALLs, the deregulation mechanism
                      remains 'unresolved'. We took advantage of H3K27ac and
                      H3K4me3 ChIP-seq data of eight T-ALLs, including five TAL1+
                      cases and identified a putative novel oncogenic neo-enhancer
                      downstream of TAL1 in an 'unresolved' monoallelic TAL1+
                      case. A rare but recurrent somatic heterozygous
                      microinsertion within this region creates a de novo binding
                      site for MYB transcription factor (TF). Here, we demonstrate
                      that this mutation leads to increased enhancer activity,
                      gain of active epigenetic marks and TAL1 activation via
                      recruitment of MYB. These results highlight the diversity of
                      non-coding mutations that can drive oncogene activation.},
      cin          = {B370 / B087 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B370-20160331 / I:(DE-He78)B087-20160331 /
                      I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36632736},
      doi          = {10.3324/haematol.2022.281583},
      url          = {https://inrepo02.dkfz.de/record/186736},
}