Can we decipher the genetic activity of all human tissues? British "Nature" and "Nature·Genetics" published a series of genomics papers that comprehensively introduced the differences in gene expression in different tissues and different individuals. These findings are related to understanding the relationship between gene mutation and gene expression in healthy tissues. New revelations have come, providing new clues to reveal the origins of disease molecules.
The human genome coding instructions regulate gene expression, and gene expression differs depending on the cell type, producing diverse tissues with different functions; they also differ in different individuals. The sequences that drive these differences are generally in the non-coding regions of the genome, which determine how and when the genes are expressed. However, current research on the differences in gene regulation and gene expression in different human tissues and individuals remains limited.
The Genotype-Organization Expression (GTEx) Research Consortium collected and studied more than 7,000 autopsy samples from 449 pre-healthy human donors, covering 44 tissues (42 different tissue types), including 31 solid organ tissues, Ten brain divisions, whole blood, and two cell lines from donor blood and skin were used by scientists at the Bode Institute to analyze the differences in gene expression between different tissues and individuals. They used the expression of quantitative trait locus (eQTL) mapping, showing that most human genes are affected by local variation, and the variant sequences are close to the affected genes. At the same time, it was also identified that the expression of 93 genes was affected by the variation of distant distance, including the variation on different chromosomes.
Another paper in Nature examines the role of rare variants in gene expression. Two papers used GTEx data to explore how genetic variants associated with gene expression can regulate RNA editing and X chromosome inactivation. In the article Nature and Genetics, the authors introduce an extension of the GTEx project, which provides a resource for studying how genetic differences affect human health step by step through molecular phenotypes.
Taken together, these results highlight the value of data from different individuals and different tissues for identifying genes and mechanisms behind human disease-related variation. Scientists at the University of Chicago said in a review article that the parties have worked together to overcome the ethical, legal and technical challenges of large-scale acquisition of post-mortem samples, and the extensive data generated has enabled humans to take a step forward in deciphering the genome-controlled code. The effects of genetic variation on gene expression are becoming clearer. (Technology Daily)
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