Oct 24, 2017

Evidence of reduced recombination rate in human regulatory domains

Genome Biology
Yaping LiuManolis Kellis

Abstract

Recombination rate is non-uniformly distributed across the human genome. The variation of recombination rate at both fine and large scales cannot be fully explained by DNA sequences alone. Epigenetic factors, particularly DNA methylation, have recently been proposed to influence the variation in recombination rate. We study the relationship between recombination rate and gene regulatory domains, defined by a gene and its linked control elements. We define these links using expression quantitative trait loci (eQTLs), methylation quantitative trait loci (meQTLs), chromatin conformation from publicly available datasets (Hi-C and ChIA-PET), and correlated activity links that we infer across cell types. Each link type shows a "recombination rate valley" of significantly reduced recombination rate compared to matched control regions. This recombination rate valley is most pronounced for gene regulatory domains of early embryonic development genes, housekeeping genes, and constitutive regulatory elements, which are known to show increased evolutionary constraint across species. Recombination rate valleys show increased DNA methylation, reduced doublestranded break initiation, and increased repair efficiency, specifically in the lineag...Continue Reading

  • References40
  • Citations8

Mentioned in this Paper

Embryo
Quantitative Trait Loci
DNA Methylation [PE]
Protein Methylation
Genome
Genes
Positron-Emission Tomography
Recombination, Genetic
Transcription Initiation
DNA Methylation

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