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Cis-regulatory variation: significance in biomedicine and evolution

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Abstract

Cis-regulatory regions (CRR) control gene expression and chromatin modifications. Genetic variation at CRR in individuals across a population contributes to phenotypic differences of biomedical relevance. This standing variation is important for personalized genomic medicine as well as for adaptive evolution and speciation. This review focuses on genetic variation at CRR, its influence on chromatin, gene expression, and ultimately disease phenotypes. In addition, we summarize our understanding of how this variation may contribute to evolution. Recent technological and computational advances have accelerated research in the direction of personalized medicine, combining strengths of molecular biology and genomics. This will pave new ways to understand how CRR variation affects phenotypes and chart out possible avenues of intervention.

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Acknowledgments

The authors thank Renato Paro for scientific discussions; and Jeremy Swann, Eirini Troupouki and an anonymous referee for comments on an earlier draft of this manuscript. R.S. acknowledges support from the Swiss National Foundation (Ambizione grant PZ00P3_142639). The authors apologize to scientists whose work could not be cited due to space limitations.

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  1. Department of Biosystems Science and Engineering, ETH Zurich, Mattenstrasse 26, 4058, Basel, Switzerland

    Simon Friedensohn & Ritwick Sawarkar

  2. Max Planck Institute of Immunobiology and Epigenetics, 79108, Freiburg im Breisgau, Germany

    Ritwick Sawarkar

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Friedensohn, S., Sawarkar, R. Cis-regulatory variation: significance in biomedicine and evolution. Cell Tissue Res 356, 495–505 (2014). https://doi.org/10.1007/s00441-014-1855-3

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