Scaringe William A, Li Kai, Gu Dongqing, Gonzalez Kelly D, Chen Zhenbin, Hill Kathleen A, Sommer Steve S
Department of Molecular Genetics, City of Hope National Medical Center, 1500 E. Duarte Rd, Duarte, CA 91010, USA.
Hum Mol Genet. 2008 Sep 15;17(18):2910-8. doi: 10.1093/hmg/ddn190. Epub 2008 Jul 15.
Somatic microindels (microdeletions with microinsertions) have been studied in normal mouse tissues using the Big Blue lacI transgenic mutation detection system. Here we analyze microindels in human cancers using an endogenous and transcribed gene, the TP53 gene. Microindel frequency, the enhancement of 1-2 microindels and other features are generally similar to that observed in the non-transcribed lacI gene in normal mouse tissues. The current larger sample of somatic microindels reveals recurroids: mutations in which deletions are identical and the co-localized insertion is similar. The data reveal that the inserted sequences derive from nearby but not adjacent sequences in contrast to the slippage that characterizes the great majority of pure microinsertions. The microindel inserted sequences derive from a template on the sense or antisense strand with similar frequency. The estimated error rate of the insertion process of 13% per bp is by far the largest reported in vivo, with the possible exception of somatic hypermutation in the immunoglobulin gene. The data constrain possible mechanisms of microindels and raise the question of whether microindels are 'scars' from the bypass of large DNA adducts by a translesional polymerase, e.g. the 'Tarzan model' presented herein.
已使用大蓝lacI转基因突变检测系统在正常小鼠组织中研究了体细胞微插入缺失(微缺失与微插入)。在此,我们使用一个内源性且转录的基因——TP53基因,分析人类癌症中的微插入缺失。微插入缺失频率、1 - 2个微插入缺失的增强以及其他特征通常与在正常小鼠组织中未转录的lacI基因中观察到的情况相似。目前更大规模的体细胞微插入缺失样本揭示了重复插入缺失:即缺失相同且共定位插入相似的突变。数据显示,与绝大多数纯微插入所特有的滑动不同,插入序列源自附近但不相邻的序列。微插入缺失的插入序列以相似频率源自正义链或反义链上的模板。估计每碱基13%的插入过程错误率是迄今为止体内报道的最大错误率,免疫球蛋白基因的体细胞超突变可能除外。这些数据限制了微插入缺失的可能机制,并提出了微插入缺失是否是跨损伤聚合酶绕过大型DNA加合物产生的“疤痕”这一问题,例如本文提出的“泰山模型”。