Exon skipping caused by DNA recombination that introduces a defective donor splice site into the human glycophorin A gene.

摘要: We report here the pre-mRNA splicing of human glycophorin Mz (HGpMz) gene altered by a defective donor splice site introduced into third intron via mechanism conversion. found that directional transfer from HGpB(delta) to HGpA(alpha) 145-base pair silent homologous segment had resulted in HGpMz as an alpha-beta-alpha hybrid with G-T transversion consensus GT motif 5'-donor site. Transcript analysis showed presence reticulocytes three major cDNA species which two occurred shortened and aberrantly spliced products lacking sequences encoded one exons, respectively. The skipping exon III results protein 99 amino acids bears M Sta blood group antigens, whereas coincident both IV leads expression minor 86 acids. These indicate translocated not only causes uniform upstream but also affects processing downstream exon. Complementing our previous studies, finding active inactive sites can be transposed DNA recombination alternatively used construct new alleles reveals novel for sequence diversification genes.