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Extensive Variation in Chromatin States Across Humans
Open accessAbstract
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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“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 [36]
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Metadata
- 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
- Venue
- Science
- Published
- 2013-11-08
- Volume
- 342
- Issue
- 6159
- Pages
- 750-752
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- 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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