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Plos One : Fusion of Zmynd8 and Rela Genes in Acute Erythroid Leukemia, Volume 8

By Defossez, Pierre-antoine

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Book Id: WPLBN0003948787
Format Type: PDF eBook :
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Reproduction Date: 2015

Title: Plos One : Fusion of Zmynd8 and Rela Genes in Acute Erythroid Leukemia, Volume 8  
Author: Defossez, Pierre-antoine
Volume: Volume 8
Language: English
Subject: Journals, Science, Medical Science
Collections: Periodicals: Journal and Magazine Collection (Contemporary)
Publication Date:
Publisher: Plos


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Defossez, P. (n.d.). Plos One : Fusion of Zmynd8 and Rela Genes in Acute Erythroid Leukemia, Volume 8. Retrieved from

Description : 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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