title: MicroRNAs in human lymphoblastoid cell lines.
abstract: Human lymphoblastoid cell lines (LCLs) are generated by EBV-mediated B-cell transformation to provide unlimited genomic resources for human genetics and immunological studies. The LCL is a good in vitro cell model for assessing population differences in the basal expression of genes and miRNAs as well as in cellular responses to various stimulators. Recently, the utility of LCLs was extended to pharmacogenomic studies to discover genetic factors underlying individual variations in response to chemicals and environmental stresses. Although LCLs represent generally lymphoid tissue-specific biological characteristics, genomic signatures of LCLs can distinguish patients with brain-related diseases and nonlymphoid tumors from normal controls. MicroRNA is known to be an epigenetic transcriptional regulator, and its expression is induced in abnormal conditions such as perturbagen-stimulated, virus-infected, or cancer cells. The epigenetic regulation of gene expression mediated by microRNA and DNA methylation is important for understanding the pathogenesis of cancers and complex diseases as well as discovering for therapeutic targets. For integrative genomic analyses, LCLs can be utilized to generate cellular phenotypes and various genomic data (e.g., SNP, CNV, transcriptome, methylome, etc.), which can be linked to clinical information of donors. Here, we discuss miRNA-mediated gene expression in LCLs and its application to disease genomics and global transcriptional regulatory machinery studies.
authors.affiliation: National Biobank of Korea, Center for Genome Science, Korea National Institute of Health, Korea Centers for Disease Control and Prevention, 200 Osongsaengmyung-2-ro, Osong-eup, Chungwon-gun, Chungbuk-do, 363-951, South Korea.
authors.forename: Sung-Mi
authors.initials: SM
authors.lastname: Shim
authors.forename: Hye-Young
authors.initials: HY
authors.lastname: Nam
authors.forename: Jae-Eun
authors.initials: JE
authors.lastname: Lee
authors.forename: Jun-Woo
authors.initials: JW
authors.lastname: Kim
authors.forename: Bok-Ghee
authors.initials: BG
authors.lastname: Han
authors.forename: Jae-Pil
authors.initials: JP
authors.lastname: Jeon
mesh_terms: D001402:B-Lymphocytes / Q000166:cytology / Q000378:metabolism* / Q000821:virology*; D002461:Cell Line, Transformed; D002472:Cell Transformation, Viral; D030541:Databases, Genetic; D044127:Epigenesis, Genetic; D005786:Gene Expression Regulation; D004854:Herpesvirus 4, Human / Q000502:physiology; D006801:Humans; D035683:MicroRNAs / Q000235:genetics* / Q000378:metabolism; D059467:Transcriptome
chemical_list: D035683:MicroRNAs