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Fusion of ZMYND8 and RELA Genes in Acute Erythroid Leukemia
Author(s) -
Ioannis Panagopoulos,
Francesca Micci,
Jim Thorsen,
Lisbeth Haugom,
Jochen Buechner,
Gitte Kerndrup,
Anne Tierens,
Bernward Zeller,
Sverre Heim
Publication year - 2013
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0063663
Subject(s) - zinc finger , chromosomal translocation , bromodomain , fusion protein , fusion gene , biology , phd finger , gene , zinc finger nuclease , microbiology and biotechnology , fusion transcript , fluorescence in situ hybridization , ring finger domain , genetics , chromosome , transcription factor , epigenetics , recombinant dna
Acute erythroid leukemia was diagnosed in a 4-month-old boy. Cytogenetic analysis of bone marrow (BM) cells showed a t(11;20)(p11;q11) translocation. RNA extracted from the BM was sequenced and analyzed for fusion transcripts using the software FusionMap. A ZMYND8-RELA fusion was ranked first. RT-PCR and direct sequencing verified the presence of an in frame ZMYND8-RELA chimeric transcript. Fluorescence in situ hybridization showed that the ZMYND8-RELA was located on the p12 band of der(11); therefore a cytogenetically invisible pericentric inversion in chromosome 11 must have taken place besides the translocation. The putative ZMYND8-RELA fusion protein contains the Zinc-PHD finger domain, a bromodomain, a PWWP domain, a MYND type of zinc finger of ZMYND8, and the entire RELA protein, indicating that it might act leukemogenically by influencing several cellular processes including the NF-kappa-B pathway.

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