Allelic specificity of immunoglobulin heavy chain (IGH@) translocation in B-cell acute lymphoblastic leukemia (B-ALL) unveiled by long-read sequencing

Author(s): Liqing, Tian and Shao, Ying and Xu, Beisi and Easton, John and Ma, Xiaotu and Li, Yongjin and Newman, Scott and Zhou, Xin and Ashby, Meredith and Hon, Ting and Clark, Tyson and Tseng, Elizabeth and Zhang, Jinghui

Oncogenic fusion of IGH-DUX4 has recently been reported as a hallmark that defines a B-ALL subtype present in up to 7% of adolescents and young adults B-ALL. The translocation of DUX4 into IGH results in aberrant activation of DUX4 by hijacking the intronic IGH enhancer (Eµ). How IGH-DUX4 translocation interplays with IGH allelic exclusion was never been explored. We investigated this in Nalm6 B-ALL cell line, using long-read (PacBio Iso-Seq method and 10X Chromium WGS), short-read (Illumina total stranded RNA and WGS), epigenome (H3K27ac ChIP-seq, ATAC-seq) and 3-D genome (Hi-C, H3K27ac HiChIP, Capture-C).

Organization: St. Jude's Children's Research Hospital
Year: 2018

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