Apr 15, 2016

Evidence of a recombination rate valley in human regulatory domains

BioRxiv : the Preprint Server for Biology
Yaping LiuManolis Kellis


Human recombination rate varies greatly, but the forces shaping it remain incompletely understood. Here, 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 methylation quantitative trait loci (meQTLs), expression quantitative trait loci (eQTLs), chromatin conformation, and correlated activity across cell types. Each link type shows a “recombination valley” of significantly-reduced recombination rate compared to control regions, indicating preferential co-inheritance of genes and linked regulatory elements as a single unit. This recombination valley is most pronounced for gene-regulatory domains of early embryonic developmental genes, housekeeping genes, and constitutive regulatory elements, which are known to show increased evolutionary constraint across species. Recombination valleys show increased DNA methylation, reduced double-stranded break initiation, and increased repair efficiency, specifically in the lineage leading to the germ line, providing a potential molecular mechanism facilitating their maintenance by exclusion of recombination events.

  • References
  • Citations


  • We're still populating references for this paper, please check back later.
  • References
  • Citations


  • This paper may not have been cited yet.

Mentioned in this Paper

Quantitative Trait Loci
DNA Methylation [PE]
Protein Methylation
Recombination, Genetic
Transcription Initiation
DNA Methylation
Genetic Inheritance
Genes, Regulator

About this Paper

Related Feeds

BioRxiv & MedRxiv Preprints

BioRxiv and MedRxiv are the preprint servers for biology and health sciences respectively, operated by Cold Spring Harbor Laboratory. Here are the latest preprint articles (which are not peer-reviewed) from BioRxiv and MedRxiv.