The effect of genetic variation on promoter usage and enhancer activity

Marco Garieri; Olivier Delaneau; Federico Santoni; Richard J. Fish; David Mull; Piero Carninci; Emmanouil T. Dermitzakis; Stylianos E. Antonarakis; Alexandre Fort

doi:10.1038/s41467-017-01467-7

Nature Communications (Nov 2017)

The effect of genetic variation on promoter usage and enhancer activity

Marco Garieri,
Olivier Delaneau,
Federico Santoni,
Richard J. Fish,
David Mull,
Piero Carninci,
Emmanouil T. Dermitzakis,
Stylianos E. Antonarakis,
Alexandre Fort

Affiliations

Marco Garieri: Department of Genetic Medicine and Development, University of Geneva
Olivier Delaneau: Department of Genetic Medicine and Development, University of Geneva
Federico Santoni: Department of Genetic Medicine and Development, University of Geneva
Richard J. Fish: Department of Genetic Medicine and Development, University of Geneva
David Mull: Department of Genetic Medicine and Development, University of Geneva
Piero Carninci: Division of Genomic Technologies, RIKEN Center for Life Science Technologies
Emmanouil T. Dermitzakis: Department of Genetic Medicine and Development, University of Geneva
Stylianos E. Antonarakis: Department of Genetic Medicine and Development, University of Geneva
Alexandre Fort: Department of Genetic Medicine and Development, University of Geneva

DOI: https://doi.org/10.1038/s41467-017-01467-7
Journal volume & issue: Vol. 8, no. 1
pp. 1 – 9

Abstract

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Expression quantitative trait loci (eQTL) are widely studied, yet the mechanisms by which they exert their effects are largely unknown. Here, performing CAGE-seq on 154 lymphoblastoid cell lines, the authors map regulatory variants associated with promoter usage (puQTLs) and enhancer activity (eaQTLs).

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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