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DNase I sensitivity QTLs are a major determinant of human expression variation

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  • Jacob F. Degner

    (University of Chicago, Chicago, Illinois 60637, USA
    Committee on Genetics, Genomics and Systems Biology, University of Chicago, Chicago, Illinois 60637, USA)

  • Athma A. Pai

    (University of Chicago, Chicago, Illinois 60637, USA)

  • Roger Pique-Regi

    (University of Chicago, Chicago, Illinois 60637, USA)

  • Jean-Baptiste Veyrieras

    (University of Chicago, Chicago, Illinois 60637, USA
    BioMiningLabs, 69001 Lyon, France)

  • Daniel J. Gaffney

    (University of Chicago, Chicago, Illinois 60637, USA
    Howard Hughes Medical Institute, University of Chicago, Chicago, Illinois 60637, USA)

  • Joseph K. Pickrell

    (University of Chicago, Chicago, Illinois 60637, USA)

  • Sherryl De Leon

    (Howard Hughes Medical Institute, University of Chicago, Chicago, Illinois 60637, USA)

  • Katelyn Michelini

    (Howard Hughes Medical Institute, University of Chicago, Chicago, Illinois 60637, USA)

  • Noah Lewellen

    (Howard Hughes Medical Institute, University of Chicago, Chicago, Illinois 60637, USA)

  • Gregory E. Crawford

    (Institute for Genome Sciences and Policy, Duke University, Durham, North Carolina 27708, USA
    Duke University School of Medicine, Durham, North Carolina 27708, USA)

  • Matthew Stephens

    (University of Chicago, Chicago, Illinois 60637, USA
    University of Chicago, Chicago, Illinois 60637, USA)

  • Yoav Gilad

    (University of Chicago, Chicago, Illinois 60637, USA)

  • Jonathan K. Pritchard

    (University of Chicago, Chicago, Illinois 60637, USA
    Howard Hughes Medical Institute, University of Chicago, Chicago, Illinois 60637, USA)

Abstract

In human lymphoblastoid cell lines, 8,902 loci were identified at which genetic variation is significantly associated with local DNase I sensitivity; these variants are responsible for a large fraction of expression quantitative trait loci.

Suggested Citation

  • Jacob F. Degner & Athma A. Pai & Roger Pique-Regi & Jean-Baptiste Veyrieras & Daniel J. Gaffney & Joseph K. Pickrell & Sherryl De Leon & Katelyn Michelini & Noah Lewellen & Gregory E. Crawford & Matth, 2012. "DNase I sensitivity QTLs are a major determinant of human expression variation," Nature, Nature, vol. 482(7385), pages 390-394, February.
    • Handle: RePEc:nat:nature:v:482:y:2012:i:7385:d:10.1038_nature10808
    DOI: 10.1038/nature10808
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    Cited by:

    1. Xiaoquan Wen & Roger Pique-Regi & Francesca Luca, 2017. "Integrating molecular QTL data into genome-wide genetic association analysis: Probabilistic assessment of enrichment and colocalization," PLOS Genetics, Public Library of Science, vol. 13(3), pages 1-25, March.
    2. Iksoo Huh & Isabel Mendizabal & Taesung Park & Soojin V Yi, 2018. "Functional conservation of sequence determinants at rapidly evolving regulatory regions across mammals," PLOS Computational Biology, Public Library of Science, vol. 14(10), pages 1-21, October.
    3. Mary F Feitosa & Aldi T Kraja & Daniel I Chasman & Yun J Sung & Thomas W Winkler & Ioanna Ntalla & Xiuqing Guo & Nora Franceschini & Ching-Yu Cheng & Xueling Sim & Dina Vojinovic & Jonathan Marten & S, 2018. "Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries," PLOS ONE, Public Library of Science, vol. 13(6), pages 1-36, June.
    4. Schraiber, Joshua G. & Landis, Michael J., 2015. "Sensitivity of quantitative traits to mutational effects and number of loci," Theoretical Population Biology, Elsevier, vol. 102(C), pages 85-93.
    5. Wendiao Zhang & Ming Zhang & Zhenhong Xu & Hongye Yan & Huimin Wang & Jiamei Jiang & Juan Wan & Beisha Tang & Chunyu Liu & Chao Chen & Qingtuan Meng, 2023. "Human forebrain organoid-based multi-omics analyses of PCCB as a schizophrenia associated gene linked to GABAergic pathways," Nature Communications, Nature, vol. 14(1), pages 1-13, December.

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