State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Department of Hematology, Ruijin Hospital North Affiliated to Shanghai Jiao Tong University of School of Medicine, Shanghai, China.
Genes Chromosomes Cancer. 2020 Jul;59(7):417-421. doi: 10.1002/gcc.22840. Epub 2020 Mar 20.
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.
染色体易位和融合基因的产生与急性髓系白血病（AML）的发病和进展密切相关。在这项研究中，我们在一位急性单核细胞白血病患者中鉴定出一种新型的 X;17(q28;q21)染色体重排。通过 RNA 测序，我们鉴定出 KANSL1-MTCP1 和 KANSL1-CMC4 融合基因。发现 KANSL1 基因的 5'-UTR 序列分别与 MTCP1 和 CMC4 基因的编码序列区上游融合，导致这些基因的异常高表达。功能研究表明，MTCP1 基因的过表达诱导细胞增殖增加和细胞分化部分阻断，表明 MTCP1 的异常表达在白血病发生中具有重要意义。
