Deletion of the 3' splice site of the leader-variable region intron of immunoglobulin heavy chain genes induces a direct splicing of leader to constant region, resulting in the production of truncated mu-chains.
An Abelson virus-transformed immature B cell line, AT8-1-12-5-2, produced truncated mu-chains. Sequencing analysis of the VHDJH complex on the expressed H-chain allele revealed the deletion of 75 nucleotides that involved leader-variable region intron and the 5' end of the variable region, which resulted in the loss of the 3' splice site of leader-variable region intron. Sequence studies of a leader- and CH1-containing cDNA clone showed that leader region was directly spliced to the CH1 exon, resulting in the production of the truncated mu-chains without variable portion. Our results demonstrated for the first time that the only loss of the 3' splice site of leader-variable region intron could induce an aberrant splicing between leader and constant region.
Department of Medicine III, Osaka University Medical School, Japan.
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Sugiyama
D000011:Abelson murine leukemia virus; D001483:Base Sequence; D002461:Cell Line, Transformed; D005091:Exons; D005803:Genes, Immunoglobulin; D007127:Immunoglobulin Constant Regions / Q000235:genetics*; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D007135:Immunoglobulin Variable Region / Q000235:genetics*; D007148:Immunoglobulin mu-Chains / Q000235:genetics*; D007438:Introns; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D016415:Sequence Alignment; D017384:Sequence Deletion
D007127:Immunoglobulin Constant Regions; D007143:Immunoglobulin Heavy Chains; D007135:Immunoglobulin Variable Region; D007148:Immunoglobulin mu-Chains