The DOI matches its Crossref record; 12 of the 12 references it cites were found in a registry or an index.
A map of open chromatin in human pancreatic islets
Open accessAbstract
Tissue-specific transcriptional regulation is central to human disease. To identify regulatory DNA active in human pancreatic islets, we profiled chromatin by formaldehyde-assisted isolation of regulatory elements coupled with high-throughput sequencing (FAIRE-seq). We identified ∼80,000 open chromatin sites. Comparison of FAIRE-seq data from islets to that from five non-islet cell lines revealed ∼3,300 physically linked clusters of islet-selective open chromatin sites, which typically encompassed single genes that have islet-specific expression. We mapped sequence variants to open chromatin sites and found that rs7903146, a TCF7L2 intronic variant strongly associated with type 2 diabetes, is located in islet-selective open chromatin. We found that human islet samples heterozygous for rs7903146 showed allelic imbalance in islet FAIRE signals and that the variant alters enhancer activity, indicating that genetic variation at this locus acts in cis with local chromatin and regulatory changes. These findings illuminate the tissue-specific organization of cis-regulatory elements and show that FAIRE-seq can guide the identification of regulatory variants underlying disease susceptibility.
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Cites
DAVID: Database for Annotation, Visualization, and Integrated Discovery
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A gene atlas of the mouse and human protein-encoding transcriptomes
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A genome-wide association study identifies novel risk loci for type 2 diabetes
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Histone modifications at human enhancers reflect global cell-type-specific gene expression
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Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes
Grant, S. F. A., Thorleifsson, G., Reynisdottir, I., Benediktsson, R., Manolescu, A., Sainz, J., Helgason, A., Stefansson, H., Emilsson, V., Helgadottir, A., et al. (2006) · Nature Genetics · doi:10.1038/ng1732 · Cited by 2,287
Clinical risk factors, DNA variants, and the development of type 2 diabetes
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“Consistent with the fact that CTCF binds to insulator elements that separate chromatin domain”
BackgroundDiabetes mellitus and genetically programmed defects in β-cell function
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Cell Cycle–Specified Fluctuation of Nucleosome Occupancy at Gene Promoters
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Self-citation
Cited by
Mahajan, A., Taliun, D., Thurner, M., Robertson, N. R., Torres, J. M., Rayner, N. W., Payne, A. J., Steinthorsdottir, V., Scott, R. A., Grarup, N., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0241-6 · Cited by 1,744
Self-citationUncovering the roles of rare variants in common disease through whole-genome sequencing
Cirulli, E. T., & Goldstein, D. B. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2779 · Cited by 1,136
Genome-Wide Quantitative Enhancer Activity Maps Identified by STARR-seq
Arnold, C. D., Gerlach, D., Stelzer, C., Boryń, Ł. M., Rath, M., & Stark, A. (2013) · Science · doi:10.1126/science.1232542 · Cited by 1,125
The genetic architecture of type 2 diabetes
Fuchsberger, C., Flannick, J., Teslovich, T. M., Mahajan, A., Agarwala, V., Gaulton, K. J., Ma, C., Fontanillas, P., Moutsianas, L., McCarthy, D. J., et al. (2016) · Nature · doi:10.1038/nature18642 · Cited by 1,051
Self-citationThe selection and function of cell type-specific enhancers
Heinz, S., Romanoski, C. E., Benner, C., & Glass, C. K. (2015) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3949 · Cited by 1,010
Metadata
- Authors
- Gaulton, K. J., Nammo, T., Pasquali, L., Simon, J. M., Giresi, P. G., Fogarty, M. P., Panhuis, T. M., Mieczkowski, P., Secchi, A., Bosco, D., Berney, T., Montanya, E., Mohlke, K. L., Lieb, J. D., & Ferrer, J.
- Venue
- Nature Genetics
- Published
- 2010-01-31
- Volume
- 42
- Issue
- 3
- Pages
- 255-259
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2082793267
- Cited by
- 541
- References
- 12
- FWCI
- 23.75
- Type
- journal article
- Language
- en
- Open access
- green
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