Please use this identifier to cite or link to this item:
Title: Populational landscape of INDELs affecting transcription factor-binding sites in humans
Authors: Ribeiro-dos-Santos, André M.
Silva, Vandeclécio L. da
Souza, Jorge E.S. de
Souza, Sandro J. de
Keywords: Transcription factor;Transcription factor-binding site;INDEL;Population genetics
Issue Date: 2015
Portuguese Abstract: Background Differences in gene expression have a significant role in the diversity of phenotypes in humans. Here we integrated human public data from ENCODE, 1000 Genomes and Geuvadis to explore the populational landscape of INDELs affecting transcription factor-binding sites (TFBS). A significant fraction of TFBS close to the transcription start site of known genes is affected by INDELs with a consequent effect at the expression of the associated gene. Results Hundreds of TFBS-affecting INDELs (TFBS-ID) show a differential frequency between human populations, suggesting a role of natural selection in the spread of such variant INDELs. A comparison with a dataset of known human genomic regions under natural selection allowed us to identify several cases of TFBS-ID likely involved in populational adaptations. Ontology analyses on the differential TFBS-ID further indicated several biological processes under natural selection in different populations. Conclusion Together, our results strongly suggest that INDELs have an important role in modulating gene expression patterns in humans. The dataset we make available, together with other data reporting variability at both regulatory and coding regions of genes, represent a powerful tool for studies aiming to better understand the evolution of gene regulatory networks in humans.
Appears in Collections:ICe - Artigos publicados em periódicos

Files in This Item:
File Description SizeFormat 
Populational landscape of INDELs affecting transcription factor-binding sites in humans.pdfSandroSouza_ICe_Populational landscape of INDELs_2015923.84 kBAdobe PDFThumbnail

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.