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A Genome-Wide Study of Allele-Specific Expression in Colorectal Cancer

文献类型：期刊论文

作者Liu, Zhi4; Dong, Xiao5; Li, Yixue1,2,3; ,
刊名FRONTIERS IN GENETICS
出版日期2018
卷号9期号:-页码:570
关键词allele-specific expression colorectal cancer cis-regulatory variation somatic mutation tumor
ISSN号1664-8021
DOI10.3389/fgene.2018.00570
文献子类Article
英文摘要Accumulating evidence from small-scale studies has suggested that allele-specific expression (ASE) plays an important role in tumor initiation and progression. However, little is known about genome-wide ASE in tumors. In this study, we conducted a comprehensive analysis of ASE in individuals with colorectal cancer (CRC) on a genome-wide scale. We identified 5.4 thousand genome-wide ASEs of single nucleotide variations (SNVs) from tumor and normal tissues of 59 individuals with CRC. We observed an increased ASE level in tumor samples and the ASEs enriched as hotspots on the genome. Around 63% of the genes located there were previously reported to contain complex regulatory elements, e.g., human leukocyte antigen (HLA), or were implicated in tumor progression. Focussing on the allelic expression of somatic mutations, we found that 37.5% of them exhibited ASE, and genes harboring such somatic mutations, were enriched in important pathways implicated in cancers. In addition, by comparing the expected and observed ASE events in tumor samples, we identified 50 tumor specific ASEs which possibly contributed to the somatic events in the regulatory regions of the genes and significantly enriched known cancer driver genes. By analyzing CRC ASEs from several perspectives, we provided a systematic understanding of how ASE is implicated in both tumor and normal tissues and will be of critical value in guiding ASE studies in cancer.
学科主题Genetics & Heredity
WOS关键词GENE-EXPRESSION ; DNA-REPLICATION ; READ ALIGNMENT ; HAPLOTYPE LOSS ; FAT1 CADHERIN ; CELLS ; HETEROZYGOSITY ; MUTATIONS ; PROTEIN ; LOCALIZATION
语种英语
WOS记录号WOS:000451481700001
出版者FRONTIERS MEDIA SA
版本出版稿
源URL[http://202.127.25.144/handle/331004/581]  
专题中国科学院上海生命科学研究院营养科学研究所
作者单位1.Chinese Acad Sci, Shanghai Inst Nutr & Hlth, Shanghai Inst Biol Sci,Univ Chinese Acad Sci, CAS MPG Partner Inst Computat Biol,Key Lab Comput, Shanghai, Peoples R China;
2.Shanghai Ind Technol Inst, Shanghai Ctr Bioinformat Technol, Shanghai, Peoples R China;
3.Fudan Univ, Collaborat Innovat Ctr Genet & Dev, Shanghai, Peoples R China,
4.Nanjing Med Univ, Jiangsu Key Lab Canc Biomarkers Prevent & Treatme, Collaborat Innovat Ctr Canc Personalized Med, Sch Publ Hlth, Nanjing, Jiangsu, Peoples R China;
5.Albert Einstein Coll Med, Dept Genet, Bronx, NY 10467 USA;
推荐引用方式
GB/T 7714		 Liu, Zhi,Dong, Xiao,Li, Yixue,et al. A Genome-Wide Study of Allele-Specific Expression in Colorectal Cancer[J]. FRONTIERS IN GENETICS,2018,9(-):570.
APA Liu, Zhi,Dong, Xiao,Li, Yixue,&,.(2018).A Genome-Wide Study of Allele-Specific Expression in Colorectal Cancer.FRONTIERS IN GENETICS,9(-),570.
MLA Liu, Zhi,et al."A Genome-Wide Study of Allele-Specific Expression in Colorectal Cancer".FRONTIERS IN GENETICS 9.-(2018):570.

入库方式： OAI收割

来源：上海营养与健康研究所

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