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Worldwide patterns of human epigenetic variation

Oana Carja, Julia L. MacIsaac, Sarah M. Mah, Brenna M. Henn, Michael S. Kobor, Marcus W. Feldman, Hunter B. Fraser
doi: https://doi.org/10.1101/021931
Oana Carja
1Department of Biology, Stanford University, Stanford, CA
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Julia L. MacIsaac
3Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada
4Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
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Sarah M. Mah
3Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada
4Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
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Brenna M. Henn
5Department of Ecology and Evolution, Stony Brook University, Stony Brook, NY
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Michael S. Kobor
3Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada
4Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
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Marcus W. Feldman
1Department of Biology, Stanford University, Stanford, CA
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Hunter B. Fraser
1Department of Biology, Stanford University, Stanford, CA
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Abstract

DNA methylation is an epigenetic modification, influenced by both genetic and environmental variation, that can affect transcription and many organismal phenotypes. Although patterns of DNA methylation have been shown to differ between human populations, it remains to be determined whether epigenetic diversity mirrors the patterns observed for DNA polymorphisms or gene expression levels. We measured DNA methylation at 480,000 sites in 34 individuals from five diverse human populations in the Human Genome Diversity Panel, and analyzed these together with single nucleotide polymorphisms (SNPs) and gene expression data. We found greater population-specificity of DNA methylation than of mRNA levels, which may be driven by the greater genetic control of methylation. This study provides insights into gene expression and its epigenetic regulation across populations and offers a deeper understanding of worldwide patterns of epigenetic diversity in humans.

Footnotes

  • ↵* E-mail: ocarja{at}sas.upenn.edu, oana.carja{at}gmail.com

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted July 05, 2015.
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Worldwide patterns of human epigenetic variation
Oana Carja, Julia L. MacIsaac, Sarah M. Mah, Brenna M. Henn, Michael S. Kobor, Marcus W. Feldman, Hunter B. Fraser
bioRxiv 021931; doi: https://doi.org/10.1101/021931
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Worldwide patterns of human epigenetic variation
Oana Carja, Julia L. MacIsaac, Sarah M. Mah, Brenna M. Henn, Michael S. Kobor, Marcus W. Feldman, Hunter B. Fraser
bioRxiv 021931; doi: https://doi.org/10.1101/021931

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