beta-Like globin RNA sequences in hemoglobin Lepore disease.
A Southern Italian patient homozygous for hemoglobin Lepore disease synthesizes approximately 3% Lepore delta beta-globin chains (relative to alpha chains) in the reticulocytes. Measurement of beta-like RNA sequences by hybridization to complementary DNA specific for beta-globin demonstrates a low level (1--2% relative to alpha sequences) of these sequences in cytoplasmic RNA from reticulocytes or spleen cells, suggesting that the Lepore gene is expressed into mRNA at a lower extent than normal alpha or beta genes; the comparison with the level of beta-like sequences found in nuclear RNA (6--8%) further supports this conclusion and indicates, in addition, that Lepore RNA might be degraded at a faster rate than normal. 2--3% beta-like sequences are found in nuclear RNA in three cases of homozygous beta0-thalassemia, setting the highest possible estimate for the delta-RNA level; this figure suggests that the 'delta-promoter'-dependent Lepore delta beta gene is somehow more actively expressed than the delta gene.
D005914:Globins / Q000096:biosynthesis*; D006441:Hemoglobin A / Q000096:biosynthesis; D006801:Humans; D007700:Kinetics; D009693:Nucleic Acid Hybridization; D014176:Protein Biosynthesis; D012313:RNA / Q000097:blood*; D012156:Reticulocytes / Q000378:metabolism*; D013154:Spleen / Q000378:metabolism; D013789:Thalassemia / Q000097:blood*
D012313:RNA; D005914:Globins; D006441:Hemoglobin A