Cited by 264Hemoglobinopathies and Related DisordersGenomics and Chromatin DynamicsHemoglobin structure and function

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β-Globin gene inactivation by DNA translocation in γβ-thalassaemi

Kioussis, D., Vanin, E., deLange, T., Flavell, R. A., Grosveld, F. G.·1983·Nature

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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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Vanin, E., Henthorn, P., Kioussis, D., Grosveld, F. & Smithies, O. Cell (in the press).

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Authors: Kioussis, D., Vanin, E., deLange, T., Flavell, R. A., & Grosveld, F. G.
Affiliations: National Institute for Medical Research (GB)
ORCID: Flavell, R. A.
Grosveld, F. G.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 1983-12
Volume: 306
Issue: 5944
Pages: 662-666
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/306662a0
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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β-Globin gene inactivation by DNA translocation in γβ-thalassaemi

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