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Cis -regulatory variation: significance in biomedicine and evolution

Friedensohn, Simon ; Sawarkar, Ritwick

In: Cell and Tissue Research, 2014, vol. 356, no. 3, p. 495-505

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    Titre
    • Cis -regulatory variation: significance in biomedicine and evolution
    Auteur
    • Friedensohn, Simon. Department of Biosystems Science and Engineering, ETH Zurich, Mattenstrasse 26, 4058, Basel, Switzerland
    • Sawarkar, Ritwick. Department of Biosystems Science and Engineering, ETH Zurich, Mattenstrasse 26, 4058, Basel, Switzerland
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • Cell and Tissue Research, 2014, vol. 356, no. 3, p. 495-505. Springer Berlin Heidelberg
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:326280
    Summary
    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.