del(12)(q24q24) SETD1B/GTF2H3

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Title: del(12)(q24q24) SETD1B/GTF2H3
Author: Storlazzi, Clelia Tiziana; Pieri, Lisa; Paoli, Chiara; Daniele, Giulia; Lasho, Terra
Abstract: We identified a novel SETD1B/GTF2H3 fusion gene in a polycythemia vera (PV) patient with complex karyotype, harboring a cryptic deletion involving chromosome band 12q24.31. This rearrangement led to the juxtaposition of the SETD1B (SET domain containing 1B) gene at intron 11 (chr12:122,257,801) with the GTF2H3 (general transcription factor IIH, polypeptide 3) gene at intron 5 (chr12:124,137,254). In silico translation showed a protein retaining SETD1B RNA binding domain (RRM_S) at its N-terminus and a portion of GTF2H3 DNA binding domain (Tfb4) at its C-terminus. We also provided evidences that SETD1B might be rearranged in an additional PV case, although in a small proportion of hematopoietic cells, indicating a possible role of SETD1B in disease pathogenesis.
Subject: SETD1B; GTF2H3; polycythemia vera; deletion; Leukaemia Section
Publisher: Jean-Loup Huret (Editor-in-Chief)
Date: 2015

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