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Cited by 350

Coordinated Effects of Sequence Variation on DNA Binding, Chromatin Structure, and Transcription

Kilpinen, Helena, Waszak, Sebastian M., Gschwind, Andreas R., Raghav, Sunil K., Witwicki, Robert M., Orioli, Andrea, Migliavacca, Eugenia, Wiederkehr, Michaël +18 more·2013·Science
DOI 10.1126/science.1242463PMC PMC5502466
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Abstract

DNA Differences: The extent to which genetic variation affects an individual's phenotype has been difficult to predict because the majority of variation lies outside the coding regions of genes. Now, three studies examine the extent to which genetic variation affects the chromatin of individuals with diverse ancestry and genetic variation (see the Perspective by Furey and Sethupathy ). Kasowski et al. (p. 750 , published online 17 October) examined how genetic variation affects differences in chromatin states and their correlation to histone modifications, as well as more general DNA binding factors. Kilpinen et al. (p. 744 , published online 17 October) document how genetic variation is linked to allelic specificity in transcription factor binding, histone modifications, and transcription. McVicker et al. (p. 747 , published online 17 October) identified how quantitative trait loci affect histone modifications in Yoruban individuals and established which specific transcription factors affect such modifications.

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  • The locations and sequence content of enhancers provide insights into how non-coding genetic variation may affect gene expression and cellular phenotypes.

    “Furthermore, the locations and sequence content of enhancers provide insights into how non-coding genetic variation may affect gene expression and cellular phenotypes (32, 36–38).”

    From An environment-dependent transcriptional network specifies human microglia identity (2017) · cites this paper as [38]

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Research works printed but not linked: 33

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Authors
Kilpinen, H., Waszak, S. M., Gschwind, A. R., Raghav, S. K., Witwicki, R. M., Orioli, A., Migliavacca, E., Wiederkehr, M., Gutierrez-Arcelus, M., Panousis, N. I., Yurovsky, A., Lappalainen, T., Romano-Palumbo, L., Planchon, A., Bielser, D., Bryois, J., Padioleau, I., Udin, G., Thurnheer, S., Hacker, D., Core, L. J., Lis, J. T., Hernandez, N., Reymond, A., Deplancke, B., & Dermitzakis, E. T.
Affiliations
  • Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva, Switzerland.
  • Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland.
  • Laboratory of Systems Biology and Genetics, Institute of Bioengineering, School of Life Sciences, Swiss Federal Institute of Technology (EPFL), 1015 Lausanne, Switzerland.
  • Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, 1011 Lausanne, Switzerland.
  • Protein Expression Core Facility, School of Life Sciences, Swiss Federal Institute of Technology (EPFL), 1015 Lausanne, Switzerland.
  • Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14850, USA.
Venue
Science
Publisher
American Association for the Advancement of Science (AAAS)
Published
2013-11-08
Volume
342
Issue
6159
Pages
744-747
ISSN
  • 0036-8075
  • 1095-9203
DOI
10.1126/science.1242463
PMC
PMC5502466
Cited by
350
References
5
Language
en

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