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Title: Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome
Author: Garrido Martín, Diego
Borsari, Beatrice
Calvo, Miquel (Calvo Llorca)
Reverter Comes, Ferran
Guigó Serra, Roderic
Keywords: Origen de la vida
Genoma humà
Origin of life
Human genome
Issue Date: 1-Feb-2021
Publisher: Nature Publishing Group
Abstract: Alternative splicing (AS) is a fundamental step in eukaryotic mRNA biogenesis. Here, we develop an efficient and reproducible pipeline for the discovery of genetic variants that affect AS (splicing QTLs, sQTLs). We use it to analyze the GTEx dataset, generating a comprehensive catalog of sQTLs in the human genome. Downstream analysis of this catalog provides insight into the mechanisms underlying splicing regulation. We report that a core set of sQTLs is shared across multiple tissues. sQTLs often target the global splicing pattern of genes, rather than individual splicing events. Many also affect the expression of the same or other genes, uncovering regulatory loci that act through different mechanisms. sQTLs tend to be located in post-transcriptionally spliced introns, which would function as hotspots for splicing regulation. While many variants affect splicing patterns by altering the sequence of splice sites, many more modify the binding sites of RNA-binding proteins. Genetic variants affecting splicing can have a stronger phenotypic impact than those affecting gene expression.
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It is part of: Nature Communications, 2021, vol. 12, num. 727, p. 1-16
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ISSN: 2041-1723
Appears in Collections:Articles publicats en revistes (Genètica, Microbiologia i Estadística)

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