Direkt zum Inhalt

Owner only: item control page
Strunz, Tobias ; Kellner, Martin ; Kiel, Christina ; Weber, Bernhard H. F.

Assigning Co-Regulated Human Genes and Regulatory Gene Clusters

Strunz, Tobias , Kellner, Martin, Kiel, Christina and Weber, Bernhard H. F. (2021) Assigning Co-Regulated Human Genes and Regulatory Gene Clusters. Cells 10 (9), pp. 1-13.

Date of publication of this fulltext: 12 Jan 2022 11:55
Article
DOI to cite this document: 10.5283/epub.51400


Abstract

Elucidating the role of genetic variation in the regulation of gene expression is key to understanding the pathobiology of complex diseases which, in consequence, is crucial in devising targeted treatment options. Expression quantitative trait locus (eQTL) analysis correlates a genetic variant with the strength of gene expression, thus defining thousands of regulated genes in a multitude of human ...

Elucidating the role of genetic variation in the regulation of gene expression is key to understanding the pathobiology of complex diseases which, in consequence, is crucial in devising targeted treatment options. Expression quantitative trait locus (eQTL) analysis correlates a genetic variant with the strength of gene expression, thus defining thousands of regulated genes in a multitude of human cell types and tissues. Some eQTL may not act independently of each other but instead may be regulated in a coordinated fashion by seemingly independent genetic variants. To address this issue, we combined the approaches of eQTL analysis and colocalization studies. Gene expression was determined in datasets comprising 49 tissues from the Genotype-Tissue Expression (GTEx) project. From about 33,000 regulated genes, over 14,000 were found to be co-regulated in pairs and were assembled across all tissues to almost 15,000 unique clusters containing up to nine regulated genes affected by the same eQTL signal. The distance of co-regulated eGenes was, on average, 112 kilobase pairs. Of 713 genes known to express clinical symptoms upon haploinsufficiency, 231 (32.4%) are part of at least one of the identified clusters. This calls for caution should treatment approaches aim at an upregulation of a haploinsufficient gene. In conclusion, we present an unbiased approach to identifying co-regulated genes in and across multiple tissues. Knowledge of such common effects is crucial to appreciate implications on biological pathways involved, specifically when a treatment option targets a co-regulated disease gene.



Involved Institutions


Details

Item typeArticle
Journal or Publication TitleCells
Publisher:MDPI
Open Access Type:Gold (with APC)
Place of Publication:BASEL
Volume:10
Number of Issue or Book Chapter:9
Page Range:pp. 1-13
Date12 September 2021
InstitutionsMedicine > Lehrstuhl für Humangenetik
Identification Number
ValueType
10.3390/cells10092395DOI
KeywordsHOX GENES; CRISPR; TRANSCRIPTION; ACTIVATION; EXPRESSION; VARIANTS; TRAITS; expression quantitative trait loci; eQTL; colocalization; regulation of gene expression; co-regulation of gene expression
Dewey Decimal Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
URN of the UB Regensburgurn:nbn:de:bvb:355-epub-514004
Item ID51400

Export bibliographical data

Owner only: item control page

nach oben