The mRNA transcripts from a mutant β-globin gene derived from splicing at preferential cryptic sites

AbstractWe have analyzed mRNA transcripts from β-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 sites are utilized. We have observed that, in reticulocytes, most mature mRNA transcribed from β-globin genes derives from specific sites of abnormal splicing. Our results differ from those previously obtained using mutant β-globin genes introduced in cultured cells and indicate a preferential processing of the abnormal globin mRNA species in red cell precursors.Thalassemia, β-; mRNA splicin