Erikson J, Finan J, Tsujimoto Y, Nowell P C, Croce C M
Proc Natl Acad Sci U S A. 1984 Jul;81(13):4144-8. doi: 10.1073/pnas.81.13.4144.
We hybridized neoplastic cells from a patient with chromic lymphocytic leukemia of the B-cell type, which carried a reciprocal chromosomal translocation between chromosomes 11 (q13) and 14 (q32) with mouse plasmacytoma cells. The hybrid cells were studied for the presence, rearrangement, and expression of the human immunoglobulin mu chain locus. The results indicate that the expressed mu chain gene is located on the normal chromosome 14, whereas the 14q+ translocation chromosome carries the excluded immunoglobulin constant (C) region mu chain allele (C mu) but does not contain variable (V) region heavy chain genes (VH). Since we found that the heavy chain joining region DNA (JH) of the excluded mu chain gene is on the 14q+ chromosome, we can conclude that the chromosomal break observed in the leukemic cells occurred in a chromosomal region within or 5' of the JH region. With these results, it is logical to postulate that a gene, for which we suggest the name bcl-1, is located on band q13 of chromosome 11 and is activated by its translocation into close proximity with the rearranged heavy chain locus on chromosome 14q+, contributing to the neoplastic transformation of the B cells with the t(11;14) chromosomal translocation.
我们将一名患有B细胞型慢性淋巴细胞白血病的患者的肿瘤细胞与小鼠浆细胞瘤细胞进行杂交，该患者的肿瘤细胞在11号染色体（q13）和14号染色体（q32）之间存在相互染色体易位。对杂交细胞进行了人类免疫球蛋白μ链基因座的存在、重排和表达研究。结果表明，表达的μ链基因位于正常的14号染色体上，而14q+易位染色体携带被排除的免疫球蛋白恒定（C）区μ链等位基因（Cμ），但不包含可变（V）区重链基因（VH）。由于我们发现被排除的μ链基因的重链连接区DNA（JH）位于14q+染色体上，我们可以得出结论，白血病细胞中观察到的染色体断裂发生在JH区域内或其5'端的染色体区域。基于这些结果，合理推测一个基因（我们建议将其命名为bcl-1）位于11号染色体的q13带，并且通过易位与14q+染色体上重排的重链基因座紧密相邻而被激活，导致携带t(11;14)染色体易位的B细胞发生肿瘤转化。
