Article
Mutation in erythroid specific transcription factor KLF1 causes Hereditary Spherocytosis in the Nan hemolytic anemia mouse model.
Genomics - 1 Nov 2010
Heruth Daniel P, Hawkins Troy, Logsdon Derek P, Gibson Margaret I, Sokolovsky Inna V, Nsumu Ndona N, Major Stephanie L, Fegley Barbara, Woods Gerald M, Lewing Karen B, Neville Kathleen A, Cornetta Kenneth, Peterson Kenneth R, White Robert A
Abstract excerpt
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...
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