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Identification of a t(X;17)(q28;q21) generating a KANSL1‐MTCP1 gene fusion leading to dysregulated expression of MTCP1 in acute myeloid leukemia
Author(s) -
Li SiXing,
Chen XinJie,
Jiang Lu,
Lei YiChen,
Zhang YunXiang,
Dai Bing,
Zhang WeiNa,
Zhong MengLing,
Fan YaLing,
Chen QiuSheng,
Liu Han,
Huang JinYan,
Chen Bing
Publication year - 2020
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.22840
Subject(s) - fusion gene , biology , myeloid leukemia , gene , chromosomal translocation , coding region , untranslated region , leukemia , gene expression , fusion protein , myeloid , cancer research , genetics , microbiology and biotechnology , rna , recombinant dna
Chromosomal translocations and generating fusion genes are closely associated with disease initiation and progression in acute myeloid leukemia (AML). In this study, we identified a novel t(X;17)(q28;q21) chromosomal rearrangement in a patient with acute monocytic leukemia. Using RNA‐sequencing, we identified a KANSL1‐MTCP1 and a KANSL1‐CMC4 fusion gene. 5′‐UTR sequences of the KANSL1 gene were found to become fused upstream of the coding sequence region of the MTCP1 and CMC4 genes, respectively, resulting in an aberrantly high expression of these genes. Functional studies revealed that overexpression of the MTCP1 gene induced an increased cell proliferation and partial blockage of cell differentiation, suggesting that the aberrant expression of MTCP1 is of critical importance in leukemogenesis.