ArticleHaematologica2019
Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient.
Article in Haematologica, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 27 citations in OpenAlex.
- Unstructured transcription factor interactions enable emergent specificity.Science (New York, N.Y.) · 2026Article
- Molecular surprises in evaluations of red cell disorders.Hematology. American Society of Hematology. Education Program · 2025Review
- KLF1 coordinates specialized transcriptional networks required to maintain the integrity of terminal erythropoiesis.Journal of cell science · 2025Article
- Collective unstructured interactions drive chromatin binding of transcription factors.bioRxiv : the preprint server for biology · 2025Article
- Hereditary disorders of ineffective erythropoiesis.Blood cells, molecules & diseases · 2025Review
- The glucocorticoid receptor elicited proliferative response in human erythropoiesis is BCL11A-dependent.Stem cells (Dayton, Ohio) · 2024Article
- Erythroid Krüppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation.Advances in experimental medicine and biology · 2024Review
- Article
- Identification of a genomic DNA sequence that quantitatively modulates KLF1 transcription factor expression in differentiating human hematopoietic cells.Scientific reports · 2023Article
- Modelling the erythroblastic island niche of dyserythropoietic anaemia type IV patients using induced pluripotent stem cells.Frontiers in cell and developmental biology · 2023Article
- EKLF/Klf1 regulates erythroid transcription by its pioneering activity and selective control of RNA Pol II pause-release.Cell reports · 2022Article
- Identification of potential chemical compounds enhancing generation of enucleated cells from immortalized human erythroid cell lines.Communications biology · 2021Article
- Hemoglobin switching in mice carrying theHaematologica · 2021Article
- AMolecular and cellular biology · 2020Article
- Severe anemia caused by dominant mutations in Krüppel-like factor 1 (KLF1).Mutation research. Reviews in mutation researchReview
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Congenital dyserythropoietic anemia type IV is caused by a heterozygous mutation, Glu325Lys (E325K), in the KLF1 transcription factor. Molecular characteristics of this disease have not been clarified, partly due to its rarity. We expanded erythroid cells from a patient's peripheral blood and analyzed its global expression pattern. We find that a large number of erythroid pathways are disrupted, particularly those related to membrane transport, globin regulation, and iron utilization. The altered genetics lead to significant deficits in differentiation. Glu325 is within the KLF1 zinc finger domain at an amino acid critical for site specific DNA binding. The change to Lys is predicted to significantly alter the target site recognition sequence, both by subverting normal recognition and by enabling interaction with novel sites. Consistent with this, we find high level ectopic expression of genes not normally present in the red cell. These altered properties explain patients' clinical and phenotypic features, and elucidate the dominant character of the mutation.
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