The DOI matches its Crossref record; 45 of the 46 references it cites were found in a registry or an index.
β-globin Gene Switching and DNase I Sensitivity of the Endogenous β-globin Locus in Mice Do Not Require the Locus Control Region
Open accessAbstract
We have generated mice with a targeted deletion of the beta-globin locus control region (LCR). Mice homozygous for the deletion die early in embryogenesis but can be rescued with a YAC containing the human beta-globin locus. After germline passage, deletion of the LCR leads to a severe reduction in expression of all mouse beta-like globin genes, but no alteration in the developmental specificity of expression. Furthermore, a DNase I-sensitive "open" chromatin conformation of the locus is established and maintained. Thus, the dominant role of the LCR in the native locus is to confer high-level transcription, and elements elsewhere in the locus are sufficient to establish and maintain an open conformation and to confer developmentally regulated globin gene expression.
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“previous studies deleting the entire β-globin SE showed that the β-globin genes remain accessible and marked by histone acetylation;55–57”
From Super-enhancers include classical enhancers and facilitators to fully activate gene expression (2023) · cites this paper as [55]
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“These models were initially applied to the mammalian β-globin locus, in which the developmental β-globin genes are regulated by a powerful tissue-specific enhancer known as a locus control region (LCR) [254–257].”
From Transcriptional enhancers and their communication with gene promoters (2021) · cites this paper as [256]
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Cites
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Self-citationTransgenic Knockout Mice with Exclusively Human Sickle Hemoglobin and Sickle Cell Disease
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Self-citationA developmentally stable chromatin structure in the human beta-globin gene cluster.
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Long noncoding RNAs: past, present, and future
Kung, J. T. Y., Colognori, D., & Lee, J. T. (2013) · Genetics · doi:10.1534/genetics.112.146704 · Cited by 1,874
BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis
Canver, M. C., Smith, E. C., Sher, F., Pinello, L., Sanjana, N. E., Shalem, O., Chen, D. D., Schupp, P. G., Vinjamur, D. S., Garcia, S. P., et al. (2015) · Nature · doi:10.1038/nature15521 · Cited by 886
Functional and Mechanistic Diversity of Distal Transcription Enhancers
Bulger, M., & Groudine, M. (2011) · Cell · doi:10.1016/j.cell.2011.01.024 · Cited by 803
Self-citationDeng, W., Lee, J., Wang, H., Miller, J., Reik, A., Gregory, P. D., Dean, A., & Blobel, G. A. (2012) · Cell · doi:10.1016/j.cell.2012.03.051 · Cited by 734
“The strong induction of b-globin transcription by ZF-Ldb1 or ZFSA implicates an involvement of the LCR and, hence, chromatin looping, because in the absence of the LCR, b-globin transcription is very low (Bender et al., 2000).”
InfluentialLong-range chromatin regulatory interactions in vivo
Carter, D., Chakalova, L., Osborne, C. S., Dai, Y.-F., & Fraser, P. (2002) · Nature Genetics · doi:10.1038/ng1051 · Cited by 663
Metadata
- Authors
- Bender, M. A., Bulger, M., Close, J., & Groudine, M.
- Affiliations
- University of Washington (US)
- Fred Hutch Cancer Center (US)
- Corresponding author
- Groudine, Mark
- Venue
- Molecular Cell
- Publisher
- Elsevier BV
- Published
- 2000-02
- Volume
- 5
- Issue
- 2
- Pages
- 387-393
- ISSN
- 1097-2765 (ISSN-L)
- OpenAlex
- W1982328581
- Cited by
- 224
- References
- 46
- Citations by year
- 2026: 2 · 2024: 3 · 2023: 6 · 2022: 3 · 2021: 2 · 2020: 5 · 2019: 1 · 2018: 4 · 2017: 1 · 2016: 7 · 2015: 3 · 2014: 7 · 2013: 5 · 2012: 3
- FWCI
- 9.77
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Molecular Cell (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (P30 HD28834, DK54071, DK44746)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Hemoglobin structure and function
- Keywords
- beta-globin locus control region, DNase I sensitivity, open chromatin, globin gene expression, embryonic lethality, developmental gene expression, chromatin conformation
- MeSH terms
- Animals, Chromatin, Deoxyribonuclease I, Globins, Heterozygote, Humans, Mice, Mutant Strains, Thalassemia, Gene Rearrangement, Sequence Deletion, Chromosomes, Artificial, Yeast, Gene Expression Regulation, Developmental, DNA Footprinting, Locus Control Region, Mice
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