ArticleGenomics2010
Mutation in erythroid specific transcription factor KLF1 causes Hereditary Spherocytosis in the Nan hemolytic anemia mouse model.
Article in Genomics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 42 citations in OpenAlex.
- Hereditary disorders of ineffective erythropoiesis.Blood cells, molecules & diseases · 2025Review
- Erythroid Krüppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation.Advances in experimental medicine and biology · 2024Review
- EKLF/Klf1 regulates erythroid transcription by its pioneering activity and selective control of RNA Pol II pause-release.Cell reports · 2022Article
- Review
- Central gene transcriptional regulatory networks shaping monocyte development in bone marrow.Frontiers in immunology · 2022Article
- Hemoglobin switching in mice carrying theHaematologica · 2021Article
- AMolecular and cellular biology · 2020Article
- Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient.Haematologica · 2019Article
- Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors.BMC genomics · 2019Article
- Article
- The Pleiotropic Effects of GATA1 and KLF1 in Physiological Erythropoiesis and in Dyserythropoietic Disorders.Frontiers in physiology · 2019Review
- Mutant KLF1 in Adult Anemic Nan Mice Leads to Profound Transcriptome Changes and Disordered Erythropoiesis.Scientific reports · 2018Article
- Survey and evaluation of mutations in the human KLF1 transcription unit.Scientific reports · 2018Article
- CisMapper: predicting regulatory interactions from transcription factor ChIP-seq data.Nucleic acids research · 2017Article
- Promiscuous DNA-binding of a mutant zinc finger protein corrupts the transcriptome and diminishes cell viability.Nucleic acids research · 2017Article
- Neomorphic effects of the neonatal anemia (Nan-Eklf) mutation contribute to deficits throughout development.Development (Cambridge, England) · 2017Article
- New insights on hereditary erythrocyte membrane defects.Haematologica · 2016Review
- Review
- Extrinsic and intrinsic control by EKLF (KLF1) within a specialized erythroid niche.Development (Cambridge, England) · 2014Article
- Review
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
KLF1 regulates definitive erythropoiesis of red blood cells by facilitating transcription through high affinity binding to CACCC elements within its erythroid specific target genes including those encoding erythrocyte membrane skeleton (EMS) proteins. Deficiencies of EMS proteins in humans lead to the hemolytic anemia Hereditary Spherocytosis (HS) which includes a subpopulation with no known genetic defect. Here we report that a mutation, E339D, in the second zinc finger domain of KLF1 is responsible for HS in the mouse model Nan. The causative nature of this mutation was verified with an allelic test cross between Nan/+ and heterozygous Klf1(+/-) knockout mice. Homology modeling predicted Nan KLF1 binds CACCC elements more tightly, suggesting that Nan KLF1 is a competitive inhibitor of wild-type KLF1. This is the first association of a KLF1 mutation with a disease state in adult mammals and also presents the possibility of being another causative gene for HS in humans.
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