The effect of genetic variation on promoter usage and enhancer activity.

Détails

Ressource 1Télécharger: s41467-017-01467-7-1.pdf (892.59 [Ko])
Etat: Public
Version: de l'auteur
ID Serval
serval:BIB_B40AB423111C
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
The effect of genetic variation on promoter usage and enhancer activity.
Périodique
Nature Communications
Auteur(s)
Garieri M., Delaneau O., Santoni F., Fish R.J., Mull D., Carninci P., Dermitzakis E.T., Antonarakis S.E., Fort A.
ISSN
2041-1723 (Electronic)
ISSN-L
2041-1723
Statut éditorial
Publié
Date de publication
2017
Peer-reviewed
Oui
Volume
8
Numéro
1
Pages
1358
Langue
anglais
Résumé
The identification of genetic variants affecting gene expression, namely expression quantitative trait loci (eQTLs), has contributed to the understanding of mechanisms underlying human traits and diseases. The majority of these variants map in non-coding regulatory regions of the genome and their identification remains challenging. Here, we use natural genetic variation and CAGE transcriptomes from 154 EBV-transformed lymphoblastoid cell lines, derived from unrelated individuals, to map 5376 and 110 regulatory variants associated with promoter usage (puQTLs) and enhancer activity (eaQTLs), respectively. We characterize five categories of genes associated with puQTLs, distinguishing single from multi-promoter genes. Among multi-promoter genes, we find puQTL effects either specific to a single promoter or to multiple promoters with variable effect orientations. Regulatory variants associated with opposite effects on different mRNA isoforms suggest compensatory mechanisms occurring between alternative promoters. Our analyses identify differential promoter usage and modulation of enhancer activity as molecular mechanisms underlying eQTLs related to regulatory elements.

Pubmed
Web of science
Open Access
Oui
Création de la notice
15/11/2017 8:35
Dernière modification de la notice
29/02/2020 6:26
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