Zucman-Rossi J, Legoix P, Victor J M, Lopez B, Thomas G
Institut National de la Santé et de la Recherche Médicale U434 Génétique des Tumeurs, Fondation Jean Dausset/Centre d'Etude du Polymorphisme Humain, 27 rue Juliette Dodu, 75010 Paris France.
Proc Natl Acad Sci U S A. 1998 Sep 29;95(20):11786-91. doi: 10.1073/pnas.95.20.11786.
Recurrent chromosome translocations in nonhematological tumors are restricted to specific subtypes, and their mechanism is currently unknown. Analysis of the sequence data of 113 interchromosomal junctions derived from 77 Ewing's tumors carrying the characteristic t(11;22) translocation indicate that, in this tumor, translocations are initiated independently on each chromosome in regions that lack site specific recombination signal. Local sequence duplications, deletions, and, most importantly, inversions that are diagnostic of DNA hairpin formation indicate that, at the breakpoint, single-stranded DNA ends are processed individually before interchromosomal joining. Taken together, these observations suggest that chromosome translocations in Ewing's tumors are mediated through a genuine illegitimate recombination mechanism.
非血液系统肿瘤中的复发性染色体易位局限于特定亚型，其机制目前尚不清楚。对来自77例携带特征性t(11;22)易位的尤因肉瘤的113个染色体间连接点的序列数据进行分析表明，在这种肿瘤中，易位在每条染色体上缺乏位点特异性重组信号的区域独立起始。局部序列重复、缺失，以及最重要的、可诊断DNA发夹形成的倒位表明，在断点处，单链DNA末端在染色体间连接之前分别进行处理。综上所述，这些观察结果提示尤因肉瘤中的染色体易位是通过一种真正的非同源重组机制介导的。
