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首页> 外文期刊>Journal of Cellular Physiology >Integrated Transcriptome Map Highlights Structural and Functional Aspects of the Normal Human Heart
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Integrated Transcriptome Map Highlights Structural and Functional Aspects of the Normal Human Heart

机译：整合转录组地图强调结构和正常的人类心脏的功能方面

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A systematic meta-analysis of the available gene expression profiling datasets for the whole normal human heart generated a quantitative transcriptome reference map of this organ. Transcriptome Mapper (TRAM) software integrated 32 gene expression profile datasets from different sources returning a reference value of expression for each of the 43,360 known, mapped transcripts assayed by any of the experimental platforms used in this regard. Main findings include the visualization at the gene and chromosomal levels of the classical description of the basic histology and physiology of the heart, the identification of suitable housekeeping reference genes, the analysis of stoichiometry of gene products, and the focusing on chromosome 21 genes, which are present in one excess copy in Down syndrome subjects, presenting cardiovascular defects in 30-40% of cases. Independent in vitro validation showed an excellent correlation coefficient (r=0.98) with the in silico data. Remarkably, heart/non-cardiac tissue expression ratio may also be used to anticipate that effects of mutations will most probably affect or not the heart. The quantitative reference global portrait of gene expression in the whole normal human heart illustrates the structural and functional aspects of the whole organ and is a general model to understand the mechanisms underlying heart pathophysiology. J. Cell. Physiol. 232: 759-770, 2017. (c) 2016 Wiley Periodicals, Inc.
机译：一个系统的分析可用的基因分析数据集对整个表达式正常的人类心脏产生的定量转录组参考这个器官的地图。转录组映射器(电)软件集成32个基因表达谱数据集不同来源的返回的参考价值为每个43360种已知的表达式,映射记录结果,任何实验平台在这方面使用。包括基因和可视化染色体水平的经典描述基本的组织学和生理学心,适当的识别管家参考基因的分析基因产物的化学计量学,聚焦21号染色体上的基因,它们存在于一个多余的副本在唐氏综合症的主题,展示心血管缺陷在30 - 40%的情况下。独立的体外验证显示优秀的相关系数(r = 0.98)在计算机的数据。组织表达比率也可以使用预计,突变的影响将最大可能影响心脏。定量参考全球基因的画像表达在整个正常人类的心脏说明了结构和功能方面整个器官,是一个通用模型理解机制的心病理生理学。2017.

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