Point mutation associated with hereditary persistence of fetal hemoglobin decreases RNA polymerase III transcription upstream of the affected gamma-globin gene.
A base substitution in the 5'-flanking region of a human fetal globin gene is associated with abnormal fetal hemoglobin production. It also reduces by 5- to 10-fold in vitro transcription of the gene by RNA polymerase III. We discuss potential links between polymerase III transcription and abnormal hemoglobin production.
D000546:Amanitins / Q000494:pharmacology; D001483:Base Sequence; D012321:DNA-Directed RNA Polymerases / Q000378:metabolism*; D005319:Fetal Hemoglobin / Q000235:genetics*; D005796:Genes / Q000187:drug effects; D005914:Globins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012320:RNA Polymerase III / Q000378:metabolism*; D014158:Transcription, Genetic
D000546:Amanitins; D005914:Globins; D005319:Fetal Hemoglobin; D012321:DNA-Directed RNA Polymerases; D012320:RNA Polymerase III