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Characterizing human genomic coevolution in locus-gene regulatory interactions.

Daniel Savel1, Mehmet Koyutürk1,2

  • 11Department of Electrical Engineering and Computer Science, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, 44106 OH USA.

Biodata Mining
|March 30, 2019
PubMed
Summary
This summary is machine-generated.

Coevolutionary analysis of human genome interactions reveals that conserved loci predict target gene conservation. Coevolved locus pairs are enriched for cis-eQTL interactions, aiding in detecting regulatory elements.

Keywords:
Co-conservationCoevolutionMultiple hypothesis testingPhylogenetic profileeQTL

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Area of Science:

  • Genomics
  • Bioinformatics
  • Evolutionary Biology

Background:

  • Coevolutionary analysis is established for predicting protein interactions across species.
  • Human genome annotation highlights functional roles of non-coding DNA and distant regulatory elements.

Purpose of the Study:

  • To characterize coevolution in human locus-gene interactions, specifically expression Quantitative Trait - Locus (eQTL) interactions.
  • To assess if coevolutionary patterns can predict regulatory interactions and aid in detecting novel functional elements.

Main Methods:

  • Analysis of coevolution in human genome locus-gene interactions, focusing on eQTLs.
  • Comparison of phylogenetic histories for intra-chromosomal locus and transcription start site pairs.
  • Evaluation of conservation status correlation between loci and their target genes.

Main Results:

  • Conservation status of loci predicts the conservation status of their target genes in eQTL interactions.
  • Coevolved intra-chromosomal locus-transcription start site pairs are enriched for cis-eQTL interactions.
  • Coevolutionary measures show potential for prioritizing association tests in cis-eQTL detection.

Conclusions:

  • Conservation patterns in loci and transcription start sites correlate with regulatory interactions.
  • Coevolved pairs are enriched for intra-chromosomal regulatory interactions, suggesting coevolution aids in predicting new interactions.
  • Genome-wide coevolutionary measures can prioritize the detection of distant or inter-chromosomal interactions, including trans-eQTLs.