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Somatic mutation driven codon transition bias in human cancer

Authors
 Hyeonju Son  ;  Hyundeok Kang  ;  Hyun Seok Kim  ;  Sangwoo Kim 
Citation
 Scientific Reports, Vol.7(1) : 14204, 2017 
Journal Title
 Scientific Reports 
Issue Date
2017
Abstract
Accumulation of DNA mutations alters amino acid sequence in the key domains of oncoproteins, leading to cellular malignant transformation. Due to redundancy of the genetic code, the same amino acid alteration can be achieved by multiple distinct genetic mutations, which are considered functionally identical and not actively distinguished in the current cancer genome research. For the first time, we analyzed the distribution of codon level transitions acquired by somatic mutations in human cancers. By analyzing the ~2.5 million nonsynonymous somatic single nucleotide variations (SNVs) found in the COSMIC database, we found 41 recurrent amino acid alterations whose DNA changes are significantly biased toward a specific codon transition. Additional analyses partially identified functional discrepancies between the favored and avoided codon transitions in terms of mutational process, codon usage, alternative splicing, and mRNA stability.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/161226
DOI
10.1038/s41598-017-14543-1
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Yonsei Biomedical Research Center (연세의생명연구원)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > BioMedical Science Institute (의생명과학부)
Yonsei Authors
강현덕(Kang, Hyundeok) ; 김상우(Kim, Sang Woo) ; 김현석(Kim, Hyun Seok)
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