Expression data for wt/wt and KLF1 p.K288X/wt human erythroid progenitors

ABSTRACT: Hereditary Persistence of Fetal Hemoglobin (HPFH) is characterized by persistent high levels of fetal hemoglobin (HbF) in adults. Several contributory factors, both genetic and environmental, have been identified, but others remain elusive. Ten of twenty-seven members from a Maltese family presented with HPFH. A genome-wide SNP scan followed by linkage analysis revealed a candidate region on chromosome 19p13.12-13. Sequencing identified a nonsense mutation in the KLF1 gene, p.K288X, ablating the DNA binding domain of this key erythroid transcriptional regulator. Only HPFH family members were heterozygote carriers of this mutation. Expression profiling on primary erythroid progenitors revealed down-regulation of KLF1 target genes in HPFH samples. Functional assays demonstrated that, in addi

ORGANISM(S): Homo sapiens

SUBMITTER: Sjaak Philipsen 

PROVIDER: E-GEOD-22109 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress