Jäck H M, Wabl M
Proc Natl Acad Sci U S A. 1987 Jul;84(14):4934-8. doi: 10.1073/pnas.84.14.4934.
Spontaneous deletions at the immunoglobulin heavy-chain locus are frequently found in myelomas, hybridomas and pre-B-cell lines. We have measured the rates for large and small deletions within the constant-region gene segment for mu chain in a pre-B-cell lines. The large deletions, which include the entire first and second exons, occurred at a rate of 1.7 X 10(-5) per cell generation. The small deletions, which span a few base pairs, occurred at a rate of 1.4 X 10(-7) per cell generation. The rate for the reversion of a termination codon in the second exon is even less than that for the small deletions and is 1000 times lower than the reversion rate that had been determined for the variable-region gene segment. Therefore, the variable-region gene segment is likely to be the preferred target for hypermutation.
免疫球蛋白重链基因座的自发缺失在骨髓瘤、杂交瘤和前B细胞系中经常被发现。我们已经测量了前B细胞系中μ链恒定区基因片段内大缺失和小缺失的发生率。包括整个第一和第二外显子的大缺失,其发生率为每细胞代1.7×10⁻⁵。跨越几个碱基对的小缺失,其发生率为每细胞代1.4×10⁻⁷。第二外显子中终止密码子的回复率甚至低于小缺失的回复率,并且比可变区基因片段所确定的回复率低1000倍。因此,可变区基因片段可能是高突变的首选靶点。