Identification of novel functional variants of SIN3A and SRSF1 among somatic variants in acute myeloid leukemia patients

Jae Woong Min, Youngil Koh, Dae Yoon Kim, Hyung Lae Kim, Jeong A. Han, Yu Jin Jung, Sung Soo Yoon, Sun Shim Choi

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


The advent of massively parallel sequencing, also called next-generation sequencing (NGS), has dramatically influenced cancer genomics by accelerating the identification of novel molecular alterations. Using a whole genome sequencing (WGS) approach, we identified somatic coding and noncoding variants that may contribute to leukemogenesis in 11 adult Korean acute myeloid leukemia (AML) patients, with serial tumor samples (primary and relapse) available for 5 of them; somatic variants were identified in 187 AML-related genes, including both novel (SIN3A, C10orf53, PTPRR, and RERGL) and well-known (NPM1, RUNX1, and CEPBA) AML-related genes. Notably, SIN3A expression shows prognostic value in AML. A newly designed method, referred to as “hot-zone” analysis, detected two putative functional noncoding variants that can alter transcription factor binding affinity near PPP1R10 and SRSF1. Moreover, the functional importance of the SRSF1 noncoding variant was further investigated by luciferase assays, which showed that the variant is critical for the regulation of gene expression leading to leukemogenesis. We expect that further functional investigation of these coding and noncoding variants will contribute to a more in-depth understanding of the underlying molecular mechanisms of AML and the development of targeted anti-cancer drugs.

Original languageEnglish
Pages (from-to)465-475
Number of pages11
JournalMolecules and Cells
Issue number5
StatePublished - 2018

Bibliographical note

Funding Information:
This research was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology (NRF-2016R1D1A1B03930411) and by a Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI) funded by the Ministry of Health & Welfare (HI14C0072). The authors would like to thank Donghyun Park for his useful comments.

Publisher Copyright:
© The Korean Society for Molecular and Cellular Biology. All rights reserved.


  • Acute myeloid leukemia
  • Somatic variants
  • Whole genome sequencing


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