English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/154190
Share/Impact:
Statistics
logo share SHARE   Add this article to your Mendeley library MendeleyBASE
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:

Title

Common genetic polymorphisms are excluded from functional hypoxia response elements

AuthorsMartinez-Alcazar, Daniel; Peso, Luis del
Issue Date2016
CitationXXXIX Congreso de la SEBBM (2016)
AbstractA wide range of diseases course with an unbalance between the consumption of oxygen by tissues and its supply. This situation triggers a transcriptional response, mediated by the hypoxia inducible factors (HIFs), that aims to restore oxygen homeostasis. Little is known about the inter-individual variation in this response and its role in the progression of disease. Herein, we sought to identify common genetic variants affecting hypoxia response elements (HREs) and characterize their effect on transcription. To this end, we constructed a list of genome-wide HIF-binding regions from publicly available experimental datasets and studied the genetic variability in these regions by integration of human variability deposited in the dbSNP database. Our analysis revealed that, although we found 141 SNPs that disrupt potential HREs in HIF-bound regions, the proportion of functional HREs affected by variants is significantly lower than expected by chance. These data strongly suggest that functional HREs are under negative selection.
DescriptionResumen del póster presentado al XXXIX Congreso anual de la Sociedad Española de Bioquímica y Biología Molecular, celebrado en Salamanca, del 5 al 8 de septiembre 2016.
URIhttp://hdl.handle.net/10261/154190
Appears in Collections:(IIBM) Comunicaciones congresos
Files in This Item:
File Description SizeFormat 
accesoRestringido.pdf15,38 kBAdobe PDFThumbnail
View/Open
Show full item record
Review this work
 


WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.