The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
β-Globin gene inactivation by DNA translocation in γβ-thalassaemi
Abstract
The beta-globin gene present on the deletion locus in a Dutch gamma beta-thalassaemic patient was found to be identical to the normal beta-globin gene with respect to DNA sequence and its transcription in HeLa cells. DNase I sensitivity and methylation experiments show that the affected beta-globin gene is present in an inactive configuration in vivo. This is the result of a translocation of a normally inactive locus next to the beta-globin gene on the affected chromosome, or the deletion of sequences which are normally required for the maintenance of the active state.
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“It soon became clear that enhancers also played vital roles in humans, with non-coding enhancer deletions starting to be linked to severe disease phenotypes such as beta thalassaemia and polydactyly [25–28].”
From Transcriptional enhancers and their communication with gene promoters (2021) · cites this paper as [25]
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Transformation of mammalian cells with genes from procaryotes and eucaryotes
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Self-citationThe nucleotide sequence of the human β-globin gene
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Research works printed but not linked: 1
- Vanin, E., Henthorn, P., Kioussis, D., Grosveld, F. & Smithies, O. Cell (in the press).
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Position-independent, high-level expression of the human β-globin gene in transgenic mice
Grosveld, F. G., van Assendelft, G. B., Greaves, D. R., & Kollias, G. A. (1987) · Cell · doi:10.1016/0092-8674(87)90584-8 · Cited by 1,908
Self-citationLong-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease
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Phenotypic impact of genomic structural variation: insights from and for human disease
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Genomic views of distant-acting enhancers
Visel, A., Rubin, E. M., & Pennacchio, L. A. (2009) · Nature · doi:10.1038/nature08451 · Cited by 610
Metadata
- Authors
- Kioussis, D., Vanin, E., deLange, T., Flavell, R. A., & Grosveld, F. G.
- Affiliations
- National Institute for Medical Research (GB)
- Venue
- Nature
- Published
- 1983-12
- Volume
- 306
- Issue
- 5944
- Pages
- 662-666
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2080670274
- Cited by
- 264
- References
- 32
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 5 · 2023: 5 · 2022: 7 · 2021: 6 · 2020: 2 · 2019: 5 · 2018: 11 · 2017: 4 · 2016: 7 · 2015: 8 · 2014: 7 · 2013: 6 · 2012: 8
- FWCI
- 7.57
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Hemoglobin structure and function
- Keywords
- beta-globin gene, gene inactivation, DNA translocation, gene deletion, DNA methylation, DNase I sensitivity, transcription, chromosomal rearrangements, gene silencing
- MeSH terms
- Alleles, Base Sequence, DNA, DNA Restriction Enzymes, Genes, Globins, HeLa Cells, Humans, Methylation, Mutation, Thalassemia, Transcription, Genetic, Translocation, Genetic
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