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

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

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

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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Crossref · 10.1038/306662a0

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  • Non-coding enhancer deletions have been linked to severe human disease phenotypes such as beta thalassaemia and polydactyly.

    “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].”

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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
Locations
  • Nature (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › 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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