ArticleThe EMBO journal1999
Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression.
Article in The EMBO journal, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 47 citations in OpenAlex.
- A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies.International journal of molecular sciences · 2022Article
- β-Hemoglobinopathies: The Test Bench for Genome Editing-Based Therapeutic Strategies.Frontiers in genome editing · 2020Review
- Update in Laboratory Diagnosis of Thalassemia.Frontiers in molecular biosciences · 2020Review
- An intergenic non-coding RNA promoter required for histone modifications in the human β-globin chromatin domain.PloS one · 2019Article
- A functional element necessary for fetal hemoglobin silencing.The New England journal of medicine · 2011Article
- Transcriptional regulation of fetal to adult hemoglobin switching: new therapeutic opportunities.Blood · 2011Review
- A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.Human genetics · 2010Article
- Intergenic transcription, cell-cycle and the developmentally regulated epigenetic profile of the human beta-globin locus.PloS one · 2007Article
- Noncoding RNA synthesis and loss of Polycomb group repression accompanies the colinear activation of the human HOXA cluster.RNA (New York, N.Y.) · 2007Article
- Multiple strategies for gene transfer, expression, knockdown, and chromatin influence in mammalian cell lines and transgenic animals.Molecular biotechnology · 2006Review
- Chromosome Conformation Capture Carbon Copy (5C): a massively parallel solution for mapping interactions between genomic elements.Genome research · 2006Article
- Review
- Multiplex-PCR assay for the deletions causing hereditary persistence of fetal hemoglobin.Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology · 2005Article
- Multiple interactions between regulatory regions are required to stabilize an active chromatin hub.Genes & development · 2004Article
- Common 5' beta-globin RFLP haplotypes harbour a surprising level of ancestral sequence mosaicism.Human genetics · 2003Article
- Sequences in the (A)gamma-delta intergenic region are not required for stage-specific regulation of the human beta-globin gene locus.Proceedings of the National Academy of Sciences of the United States of America · 2003Article
- Spatial organization of gene expression: the active chromatin hub.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2003Review
- The role of the -50 region of the human gamma-globin gene in switching.The EMBO journal · 2001Article
- Persistent fetal gamma-globin expression in adult transgenic mice following deletion of two silencer elements located 3' to the human Agamma-globin gene.Molecular medicine (Cambridge, Mass.)Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The analysis of a number of cases of beta-globin thalassemia and hereditary persistence of fetal hemoglobin (HPFH) due to large deletions in the beta-globin locus has led to the identification of several DNA elements that have been implicated in the switch from human fetal gamma- to adult beta-globin gene expression. We have tested this hypothesis for an element that covers the minimal distance between the thalassemia and HPFH deletions and is thought to be responsible for the difference between a deletion HPFH and deltabeta-thalassemia, located 5' of the delta-globin gene. This element has been deleted from a yeast artificial chromosome (YAC) containing the complete human beta-globin locus. Analysis of this modified YAC in transgenic mice shows that early embryonic expression is unaffected, but in the fetal liver it is subject to position effects. In addition, the efficiency of transcription of the beta-globin gene is decreased, but the developmental silencing of the gamma-globin genes is unaffected by the deletion. These results show that the deleted element is involved in the activation of the beta-globin gene perhaps through the loss of a structural function required for gene activation by long-range interactions.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.