t(2;8)染色体易位的κ基因中的N片段插入和区域定向体细胞超突变。
N segment insertion and region-directed somatic hypermutation in a kappa gene of a t(2;8) chromosomal translocation.
作者信息
Klobeck H G, Combriato G, Zachau H G
出版信息
Nucleic Acids Res. 1987 Jun 25;15(12):4877-88. doi: 10.1093/nar/15.12.4877.
Abstract
A detailed molecular analysis of both reciprocal recombination products of the variant t(2;8) chromosomal translocation of the Burkitt lymphoma derived cell line JI and their germline counterparts was carried out. The breakpoint on chromosome 8 is localized 28 kb to the 3' side of the c-myc protooncogene, the breakpoint on chromosome 2 was found to be within an aberrantly rearranged VK gene (abbreviations ref. 1). Novel features of the immunoglobulin moiety involved in this process include insertion of extra nucleotides in the V-J junction which have the characteristics of a N segment as it has been found up to now only in heavy chain and T cell receptor genes; the occurrence of somatic mutations in 8q+ and not in 2p-. These data allow a reconstruction of the course of events in the cell line JI; remarkable sequence regularities at the chromosomal breakpoints consisting of symmetrically placed dinucleotides and elements related to the hepta- and nonanucleotide recombinase recognition sequences are discussed in the context of the translocation mechanism.
摘要
对源自伯基特淋巴瘤的细胞系JI的变异型t(2;8)染色体易位的两个相互重组产物及其种系对应物进行了详细的分子分析。8号染色体上的断点位于原癌基因c-myc 3'端28 kb处，2号染色体上的断点位于一个异常重排的VK基因内（参考文献1）。参与此过程的免疫球蛋白部分的新特征包括在V-J连接中插入额外的核苷酸，这些核苷酸具有N片段的特征，因为到目前为止仅在重链和T细胞受体基因中发现；8q+发生体细胞突变而2p-未发生。这些数据有助于重建细胞系JI中的事件过程；在易位机制的背景下讨论了染色体断点处由对称排列的二核苷酸和与七核苷酸及九核苷酸重组酶识别序列相关的元件组成的显著序列规律。
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Nucleic Acids Res. 1987 Jun 25;15(12):4877-88. doi: 10.1093/nar/15.12.4877.
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本文引用的文献
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Variant (6 ; 15) translocation in a murine plasmacytoma occurs near an immunoglobulin kappa gene but far from the myc oncogene.小鼠浆细胞瘤中的（6；15）易位变体发生在免疫球蛋白κ基因附近，但远离myc癌基因。
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A novel type of aberrant recombination in immunoglobulin genes and its implications for V-J joining mechanism.免疫球蛋白基因中一种新型的异常重组及其对V-J连接机制的影响。
Nature. 1983;302(5905):260-3. doi: 10.1038/302260a0.
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Somatic generation of antibody diversity.抗体多样性的体细胞产生。
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Evolution of human immunoglobulin kappa J region genes.人类免疫球蛋白κ J 区基因的进化
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10
Differences between germ-line and rearranged immunoglobulin V kappa coding sequences suggest a localized mutation mechanism.种系免疫球蛋白Vκ编码序列与重排免疫球蛋白Vκ编码序列之间的差异提示了一种局部突变机制。
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