ArticleNature communications2021
Reactivation of a developmentally silenced embryonic globin gene.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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Who cites it
26 citing papers in PubMed, 48 citations in OpenAlex.
- Reactivation of the embryonic ζ-globin gene ameliorates severe forms of α-thalassemia.Nature genetics · 2026Article
- IMP1 is a novel posttranscriptional regulator of early erythroid development and embryonic globin output.Blood advances · 2026Article
- Loop extrusion by cohesin plays a role in enhancer-activated gene expression early in differentiation.Nature communications · 2026Article
- A long-range enhancer at -52Kb drives expression of the COUP-TFII transcription factor in erythroid cells.Scientific reports · 2026Article
- MAZ regulates fetal hemoglobin repression by activating MYB transcription.Scientific reports · 2025Article
- Mechanisms of Globin Gene Regulation in Mammals.Annual review of genetics · 2025Review
- Outcomes and risk factors for complications in deletional haemoglobin H disease: A retrospective longitudinal cohort study in British Columbia, Canada.British journal of haematology · 2025Article
- BIT: Bayesian Identification of Transcriptional regulators from epigenomics-based query region sets.Nature communications · 2025Article
- An unusual transfusion-dependent hemoglobin H disease caused by a novel complex inverted duplication involving the α-globin regulatory elements and α-thalassemia--SEA deletion.Annals of hematology · 2025Article
- Ancient genomic linkage of α-globin and Nprl3 couples metabolism with erythropoiesis.Nature communications · 2025Article
- The α-globin super-enhancer acts in an orientation-dependent manner.Nature communications · 2025Article
- MYB represses ζ-globin expression through upregulating ETO2.Acta biochimica et biophysica Sinica · 2025Article
- Efficient andMolecular therapy. Nucleic acids · 2024Article
- Base Editors-Mediated Gene Therapy in Hematopoietic Stem Cells for Hematologic Diseases.Stem cell reviews and reports · 2024Review
- A comprehensive benchmarking with interpretation and operational guidance for the hierarchy of topologically associating domains.Nature communications · 2024Article
- Interplay between α-thalassemia and β-hemoglobinopathies: Translating genotype-phenotype relationships into therapies.HemaSphere · 2024Article
- Transcriptional Repressor BCL11A in Erythroid Cells.Advances in experimental medicine and biology · 2024Review
- Super-enhancers include classical enhancers and facilitators to fully activate gene expression.Cell · 2023Article
- Ancient genomic linkage couples metabolism with erythroid development.bioRxiv : the preprint server for biology · 2023Article
- Article
Corrections and comments
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Authors and funding
26 authors at 7 institutions in 5 countries.
Funding
Abstract
The α- and β-globin loci harbor developmentally expressed genes, which are silenced throughout post-natal life. Reactivation of these genes may offer therapeutic approaches for the hemoglobinopathies, the most common single gene disorders. Here, we address mechanisms regulating the embryonically expressed α-like globin, termed ζ-globin. We show that in embryonic erythroid cells, the ζ-gene lies within a ~65 kb sub-TAD (topologically associating domain) of open, acetylated chromatin and interacts with the α-globin super-enhancer. By contrast, in adult erythroid cells, the ζ-gene is packaged within a small (~10 kb) sub-domain of hypoacetylated, facultative heterochromatin within the acetylated sub-TAD and that it no longer interacts with its enhancers. The ζ-gene can be partially re-activated by acetylation and inhibition of histone de-acetylases. In addition to suggesting therapies for severe α-thalassemia, these findings illustrate the general principles by which reactivation of developmental genes may rescue abnormalities arising from mutations in their adult paralogues.
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Registered trials
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.