title: The mRNA transcripts from a mutant beta-globin gene derived from splicing at preferential cryptic sites.
abstract: We have analyzed mRNA transcripts from beta-globin genes carrying a homozygous point mutation at the 5' splicing site of the first intron, using a method allowing in vivo analysis of mRNA transcripts. As expected, this mutation decreases normal splicing of mRNA when cryptic splicing are utilized. We have observed that, in reticulocytes, most mature mRNA transcribed from beta-globin genes derives from specific sites of abnormal splicing. Our results differ from those previously obtained using mutant beta-globin genes introduced in cultured cells and indicate a preferential processing of the abnormal globin mRNA species in red cell precursors.
authors.affiliation: INSERM U38, Faculté de Médecine, Marseille, France.
authors.forename: A M
authors.initials: AM
authors.lastname: Lossi
authors.forename: J L
authors.initials: JL
authors.lastname: Bergé-Lefranc
mesh_terms: D001482:Base Composition; D015139:Blotting, Southern; D002478:Cells, Cultured; D004247:DNA / Q000032:analysis; D004912:Erythrocytes / Q000032:analysis; D005914:Globins / Q000032:analysis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007438:Introns; D015336:Molecular Probe Techniques; D009154:Mutation; D012326:RNA Splicing; D012333:RNA, Messenger / Q000032:analysis*; D012156:Reticulocytes / Q000032:analysis; D013789:Thalassemia / Q000235:genetics; D014158:Transcription, Genetic
chemical_list: D012333:RNA, Messenger; D005914:Globins; D004247:DNA