Cited by 348Genomics and Chromatin DynamicsGenetic Associations and EpidemiologyEpigenetics and DNA Methylation

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Extensive Variation in Chromatin States Across Humans

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Kasowski, Maya, Kyriazopoulou-Panagiotopoulou, Sofia, Grubert, Fabian, Zaugg, Judith B., Kundaje, Anshul, Liu, Yuling, Boyle, Alan P., Zhang, Qiangfeng Cliff, Zakharia, Fouad, Spacek, Damek V., Li, Jingjing, Xie, Dan, Olarerin-George, Anthony, Steinmetz, Lars M., Hogenesch, John B., Kellis, Manolis, Batzoglou, Serafim, Snyder, Michael·2013·Science

DOI 10.1126/science.1242510PMC PMC4075767

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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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Authors: Kasowski, M., Kyriazopoulou-Panagiotopoulou, S., Grubert, F., Zaugg, J. B., Kundaje, A., Liu, Y., Boyle, A. P., Zhang, Q. C., Zakharia, F., Spacek, D. V., Li, J., Xie, D., Olarerin-George, A., Steinmetz, L. M., Hogenesch, J. B., Kellis, M., Batzoglou, S., & Snyder, M.
Affiliations: Yale University (US)
Stanford University (US)
Stanford Medicine (US)
Broad Institute (US)
University of Pennsylvania (US)
Corresponding author: Kasowski, Maya
Kyriazopoulou-Panagiotopoulou, Sofia
Grubert, Fabian
Zaugg, Judith B.
Kundaje, Anshul
Snyder, Michael
ORCID: Kasowski, Maya
Zaugg, Judith B.
Kundaje, Anshul
Liu, Yuling
Boyle, Alan P.
Zhang, Qiangfeng Cliff
Li, Jingjing
Xie, Dan
Olarerin-George, Anthony
Steinmetz, Lars M.
Hogenesch, John B.
Kellis, Manolis
Batzoglou, Serafim
Snyder, Michael
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 2013-11-08
Volume: 342
Issue: 6159
Pages: 750-752
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.1242510
PMC: PMC4075767
OpenAlex: W2023342647
Cited by: 339
References: 42
Citations by year: 2026: 9 · 2025: 10 · 2024: 11 · 2023: 5 · 2022: 19 · 2021: 24 · 2020: 20 · 2019: 34 · 2018: 30 · 2017: 36 · 2016: 31 · 2015: 53 · 2014: 51 · 2013: 6
FWCI: 21.04
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Science (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion)
King Abdullah University of Science and Technology Repository (King Abdullah University of Science and Technology) (submittedVersion)
PMC
Funders: Siebel Scholars Foundation
King Abdullah University of Science and Technology
Janggen-Pöhn-Stiftung
National Institutes of Health
National Heart, Lung, and Blood Institute (U01HL107393)
National Human Genome Research Institute (K99HG007356, R01HG004037, T32HG000044)
National Institute of General Medical Sciences (T32-GM07205, T32GM007205)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
Keywords: genetic variation, histone modifications, transcription factor binding, quantitative trait loci, human ancestry, Yoruba, transcriptional regulation
MeSH terms: CCCTC-Binding Factor, Cohesins, Binding Sites, Chromatin, Chromosomal Proteins, Non-Histone, Enhancer Elements, Genetic, Gene Expression Regulation, Histones, Humans, Repressor Proteins, Transcription Factors, Genetic Variation, Cell Cycle Proteins, Genetic Predisposition to Disease, Cell Line, Tumor

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Extensive Variation in Chromatin States Across Humans

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