ゲノム情報科学研究教育機構  アブストラクト
Date Aug 23, 2018
Speaker Roderic Guigó, Head of the Bioinformatics and Genomics Program. Center for Genomic Regulation (CRG)
Title The molecular anatomy of the human body
Abstract The relationship between the transcriptomes of tissues and the transcriptomes of the constituent primary cells, and how these impact tissue phenotypes has not been well established. Here we have produced RNA sequencing data for a number of primary cells from multiple human body locations. The analysis of this data, together with additional epigenetic data also produced by the ENCODE project for a total of 146 primary cells, indicate that most cells in the human body belong to five major cell types: epithelial, endothelial, mesenchymal, neural and blood cells. These redefine, based on gene expression, the basic histological types in which tissues are usually classified. We identified genes specific to these cell types, including a core set of transcription factors (TFs). Cell type specific genes, particularly when lying in open chromatin domains, are enriched for motifs for these cell type specific TFs, suggesting that they are potential candidates to drive cell type specificity. We estimated the relative proportion in tissues of the different cell types based on the transcriptional profiles obtained from bulk tissue sections from the GTEx project. This inferred cellular composition is a characteristic signature of tissues and reflects tissue histology. We identified changes in tissue composition associated with age and sex, and we found that departures from the normal cellular composition are a characteristic of different cancer types and correlate with histological phenotypes associated to diseases.
「セミナー」に戻る      
 ホーム