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Identification of Novel Functional Variants of SIN3A and SRSF1 among Somatic Variants in Acute Myeloid Leukemia Patients

Title
Identification of Novel Functional Variants of SIN3A and SRSF1 among Somatic Variants in Acute Myeloid Leukemia Patients
Authors
Min J.-W.Koh Y.Kim D.-Y.Kim H.-L.Han J.A.Jung Y.-J.Yoon S.-S.Choi S.S.
Ewha Authors
김형래
SCOPUS Author ID
김형래scopus
Issue Date
2018
Journal Title
Molecules and cells
ISSN
0219-1032JCR Link
Citation
Molecules and cells vol. 41, no. 5, pp. 465 - 475
Keywords
acute myeloid leukemiasomatic variantswhole genome sequencing
Indexed
SCI; SCIE; SCOPUS; KCI WOS scopus
Document Type
Article
Abstract
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.
DOI
10.14348/molcells.2018.0051
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의과대학 > 의학과 > Journal papers
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