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Cis-regulatory variation: significance in biomedicine and evolution

MPG-Autoren
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Sawarkar,  Ritwick
Max Planck Institute of Immunobiology and Epigenetics, Max Planck Society;

Externe Ressourcen

https://link.springer.com/article/10.1007/s00441-014-1855-3#author-information
(Verlagsversion)

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Sawarkar et al..pdf
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Zitation

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


Zitierlink: https://hdl.handle.net/21.11116/0000-0006-9E60-C
Zusammenfassung
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.