Cracking the regulatory code

• Published in: Nature (London) Vol. 550; no. 7675; pp. 190 - 191
• Main Authors: Ward, Michelle C., Gilad, Yoav
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 12.10.2017; Nature Publishing Group
• Subjects: 631/208; 631/208/212; Consortia; Deoxyribonucleic acid; Disease; DNA; Gene expression; Gene loci; Gene mapping; Genetic engineering; Genomes; Genomics; Humanities and Social Sciences; multidisciplinary; news-and-views; Researchers; Science; Studies
• ISSN: 0028-0836; 1476-4687
• DOI: 10.1038/550190a

A collection of papers catalogues the associations between genetic variation and gene expression in healthy tissues – the largest analysis of this kind so far. See Article p.204 & Letters p.239 , p.244 & p.249 Genetic effects on gene expression across human tissues The GTEx (Genotype-Tissue Expression) Consortium has established a reference catalogue and associated tissue biobank for gene-expression levels across individuals for diverse tissues of the human body, with a broad sampling of normal, non-diseased human tissues from postmortem donors. The consortium now presents the deepest survey of gene expression across multiple tissues and individuals to date, encompassing 7,051 samples from 449 donors across 44 human tissues. Barbara Engelhardt and colleagues characterize the relationship between genetic variation and gene expression, and find that most genes are regulated by genetic variation near to the affected gene. In accompanying GTEx studies, Alexis Battle, Stephen Montgomery and colleagues examine the effect of rare genetic variation on gene expression across human tissues, Daniel MacArthur and colleagues systematically survey the landscape of X chromosome inactivation in human tissues, and Jin Billy Li and colleagues provide a comprehensive cross-species analysis of adenosine-to-inosine RNA editing in mammals. In an accompanying News & Views, Michelle Ward and Yoav Gilad put the latest results in context and discuss how these findings are helping to crack the regulatory code of the human genome.