Integrated Transcriptome Map Highlights Structural and Functional Aspects of the Normal Human Heart
Integrated Transcriptome Map Highlights Structural and Functional Aspects of the Normal Human Heart
复制标题
DOI：
10.1002/jcp.25471
复制
发表时间：
2017-04-01
影响因子：
5.6
通讯作者：
Pelleri, Maria Chiara
中科院分区：
文献类型：
--
作者：
Caracausi, Maria;Piovesan, Allison;Pelleri, Maria Chiara
对整个正常人类心脏的可用基因表达谱数据集进行系统的荟萃分析，生成了该器官的定量转录组参考图谱。转录组映射器（TRAM）软件集成了来自不同来源的32个基因表达谱数据集，为这方面使用的任何实验平台分析的43,360个已知的映射转录本中的每一个返回表达参考值。主要发现包括在基因和染色体水平上对心脏基本组织学和生理学的经典描述的可视化，合适的内参基因的鉴定，基因产物的化学计量学分析，以及对21号染色体基因的关注，这些基因存在于唐氏综合征受试者的一个多余拷贝中，导致30-40%的病例出现心血管缺陷。体外独立验证结果表明，该方法与计算机数据具有良好的相关性（r=0.98）。值得注意的是，心脏/非心脏组织表达比也可以用来预测突变的影响最有可能影响或不影响心脏。整个正常人类心脏中基因表达的定量参考全球肖像说明了整个器官的结构和功能方面，是理解心脏病理生理机制的一般模型。j .细胞。中国生物医学工程学报，2016,32(2):559 - 567。(c) 2016 Wiley Periodicals, Inc.；
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.