ArticleNucleic acids research2017
Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation.
Article in Nucleic acids research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- LDB1 represses fetal hemoglobin expression by enhancing BCL11A transcription.Redox biology · 2026Article
- Transcriptomics and proteomics reveals the potential mechanisms of hydroquinone-inhibited erythroid differentiation in K562 cells.Toxicology research · 2025Article
- The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation.Scientific reports · 2025Article
- An erythroid-specific lentiviral vector improves anemia and iron metabolism in a new model of XLSA.Blood · 2025Article
- Article
- CK2β Regulates Hematopoietic Stem Cell Biology and Erythropoiesis.HemaSphere · 2023Article
- Evaluation of large language models for discovery of gene set function.Research square · 2023Article
- Heme as a differentiation-regulatory transcriptional cofactor.International journal of hematology · 2022Review
- Fbxw11 impairs the repopulation capacity of hematopoietic stem/progenitor cells.Stem cell research & therapy · 2022Article
- Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis.Scientific reports · 2022Article
- An Extended C-Terminus, the Possible Culprit for Differential Regulation of 5-Aminolevulinate Synthase Isoforms.Frontiers in molecular biosciences · 2022Review
- Highly efficient gene editing and single cell analysis of hematopoietic stem/progenitor cells from X-linked sideroblastic anemia patients.Signal transduction and targeted therapy · 2021Article
- Erythroid precursors and progenitors suppress adaptive immunity and get invaded by SARS-CoV-2.Stem cell reports · 2021Article
- Hematopoietic stem cell heterogeneity is linked to the initiation and therapeutic response of myeloproliferative neoplasms.Cell stem cell · 2021Article
- Discovering How Heme Controls Genome Function Through Heme-omics.Cell reports · 2020Article
- GATA1 mutations in red cell disorders.IUBMB life · 2020Review
- Zebrafish as a model system to delineate the role of heme and iron metabolism during erythropoiesis.Molecular genetics and metabolism · 2019Review
- Synergistic antitumor activity of artesunate and HDAC inhibitors through elevating heme synthesisActa pharmaceutica Sinica. B · 2019Article
- Genetic Insights Into Smooth Muscle Cell Contributions to Coronary Artery Disease.Arteriosclerosis, thrombosis, and vascular biology · 2019Review
- Generation and Molecular Characterization of Human Ring Sideroblasts: a Key Role of Ferrous Iron in Terminal Erythroid Differentiation and Ring Sideroblast Formation.Molecular and cellular biology · 2019Article
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Authors and funding
14 authors.
Funding
Abstract
The first intronic mutations in the intron 1 GATA site (int-1-GATA) of 5-aminolevulinate synthase 2 (ALAS2) have been identified in X-linked sideroblastic anemia (XLSA) pedigrees, strongly suggesting it could be causal mutations of XLSA. However, the function of this int-1-GATA site during in vivo development remains largely unknown. Here, we generated mice lacking a 13 bp fragment, including this int-1-GATA site (T AGATAA: AGCCCC) and found that hemizygous deletion led to an embryonic lethal phenotype due to severe anemia resulting from a lack of ALAS2 expression, indicating that this non-coding sequence is indispensable for ALAS2 expression in vivo Further analyses revealed that this int-1-GATA site anchored the GATA site in intron 8 (int-8-GATA) and the proximal promoter, forming a long-range loop to enhance ALAS2 expression by an enhancer complex including GATA1, TAL1, LMO2, LDB1 and Pol II at least, in erythroid cells. However, compared with the int-8-GATA site, the int-1-GATA site is more essential for regulating ALAS2 expression through CRISPR/Cas9-mediated site-specific deletion. Therefore, the int-1-GATA site could serve as a valuable site for diagnosing XLSA in cases with unknown mutations.
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