EBV转化细胞系中人基因表达的年龄、性别和遗传结构
Age, Sex, and Genetic Architecture of Human Gene Expression in EBV Transformed Cell Lines
摘要：
来自EBV转化细胞系的个体表达谱是用于基因组研究的新兴资源。在这项研究中，我们的特点的影响，年龄，性别和遗传变异的基因表达，通过调查这些配置文件的公共数据集。我们确定，细胞系的表达空间保持遗传以及非种系信息，在一个个体特异性和跨组织的方式。供体的年龄与衍生细胞系中949个基因的表达相关。免疫相关基因包括免疫相关基因的过度表达，特别是MHC I类基因，这是一种在组织和生物体中复制的现象。这些细胞系中的性别相关基因包括可能的候选基因，例如逃避X-失活的基因、睾丸特异性表达的基因、雄激素和雌激素特异性基因，以及先前未知的性别相关基因家族，例如常见的microRNA靶标（MIR-490、V_ARP1_01、MIR-489）。最后，我们报告了494个转录本，其表达水平与顺式遗传变异相关，重叠并验证了以前的报告。在关联分析中排除年龄有助于进一步发现反式作用调节遗传变异。我们的研究结果促进了转化细胞系的表达谱分析，作为理解特定细胞系以外的细胞系统的工具。
英文摘要：
Individual expression profiles from EBV transformed cell lines are an emerging resource for genomic investigation. In this study we characterize the effects of age, sex, and genetic variation on gene expression by surveying public datasets of such profiles. We establish that the expression space of cell lines maintains genetic as well as non-germline information, in an individual-specific and cross-tissue manner. Age of donor is associated with the expression of 949 genes in the derived cell line. Age-associated genes include over-representation of immune-related genes, specifically MHC Class I genes, a phenomenon that replicates across tissues and organisms. Sex associated genes in these cell lines include likely candidates, such as genes that escape X-inactivation,testis specific expressed genes, androgen and estrogen specific genes, but also gene families previously unknown to be sex associated such as common microRNA targets (MIR-490, V_ARP1_01, MIR-489). Finally, we report 494 transcripts whose expression levels are associated with a genetic variant in cis, overlapping and validating previous reports. Incorporating age in analysis of association facilitates additional discovery of trans-acting regulatory genetic variants. Our findings promote expression profiling of transformed cell lines as a vehicle for understanding cellular systems beyond the specific lines.
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