Severe anemia caused by dominant mutations in Kruppel-like factor 1 (KLF1).

ABSTRACT: The etiology and severity of anemia, a common blood disorder, are diverse. Dominant mutations in Krüppel-like factor 1 (KLF1/EKLF) underlie the molecular basis for some of them. KLF1 is a zinc finger transcription factor that plays an essential role in red blood cell proliferation and differentiation. Mutations have been identified in the KLF1 gene that cause hematologic diseases. Two of these alter one allele but generate an extreme phenotype: the mouse Nan mutation (E339D) leads to hemolytic neonatal anemia with hereditary spherocytosis, and the human CDA mutation (E325K) causes congenital dyserythropoietic anemia (CDA) type IV. These modify functionally important amino acids in the zinc finger DNA-binding domain at positions involved in direct interactions with regulatory elements of KL

SUBMITTER: Kulczynska-Figurny K 

PROVIDER: S-EPMC10199782 | biostudies-literature | 2020 Oct - Dec

REPOSITORIES: biostudies-literature