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

Author:

Kilpinen Helena123,Waszak Sebastian M.24,Gschwind Andreas R.25,Raghav Sunil K.4,Witwicki Robert M.5,Orioli Andrea5,Migliavacca Eugenia25,Wiederkehr Michaël5,Gutierrez-Arcelus Maria123,Panousis Nikolaos I.123,Yurovsky Alisa123,Lappalainen Tuuli123,Romano-Palumbo Luciana1,Planchon Alexandra1,Bielser Deborah1,Bryois Julien123,Padioleau Ismael123,Udin Gilles4,Thurnheer Sarah6,Hacker David6,Core Leighton J.7,Lis John T.7,Hernandez Nouria5,Reymond Alexandre5,Deplancke Bart24,Dermitzakis Emmanouil T.1238

Affiliation:

1. Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva, Switzerland.

2. Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland.

3. Institute of Genetics and Genomics of Geneva, University of Geneva, 1211 Geneva, Switzerland.

4. Laboratory of Systems Biology and Genetics, Institute of Bioengineering, School of Life Sciences, Swiss Federal Institute of Technology (EPFL), 1015 Lausanne, Switzerland.

5. Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, 1011 Lausanne, Switzerland.

6. Protein Expression Core Facility, School of Life Sciences, Swiss Federal Institute of Technology (EPFL), 1015 Lausanne, Switzerland.

7. Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14850, USA.

8. Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah 21589, Saudi Arabia.

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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