Alhadeff B, Velivasakis M, Pagan-Charry I, Wright W C, Siniscalco M
Cytogenet Cell Genet. 1980;27(1):8-23. doi: 10.1159/000131459.
The high rate of sister chromatid exchange (SCE) characteristic of cultured somatic cells from patients with Bloom's syndrome (BS) was found to be fully corrected in BS chromosomes retained by somatic cell hybrids between Chinese hamster cells (CHO-YH 21) and BS fibroblasts (GM 1492), independent of the type and the number of human chromosomes retained. On the contrary, the average rate of SCE per Chinese hamster chromosome remained unaffected by hybridization with both BS and normal human cells. A partial suppression of SCE of about 30% was observed in the BS cells themselves when these were co-cultivated with Chinese hamster/Bloom's syndrome hybrid cells. In these hybrids, the rate of SCE per chromosome (Chinese hamster or human) was unaffected by co-cultivation. The data reported indicate that the high rate of SCE in BS cells must be considered to be the consequence of a lost normal function, rather than the acquisition of a new abnormal one, and that several independent genetic systems may be involved in the control of SCE during the replication of mammalian cells. Accordingly, the high rate of SCE in a cultured cell line or an individual should be looked upon as the common phenotype resulting from mutation(s) at any one of these systems. The occurrence of genetic complementation for SCE across the species barrier suggests that at least some of these genetic systems are homologous in different mammalian species and emphasizes the potential(s) of somatic cell hybridization for studying the biology of SCE, in general, and the genetics of Bloom's syndrome, in particular.
患有布卢姆综合征(BS)患者的培养体细胞所特有的姐妹染色单体交换(SCE)高发生率,在中华仓鼠细胞(CHO - YH 21)与BS成纤维细胞(GM 1492)之间的体细胞杂种所保留的BS染色体中被发现完全得到纠正,这与所保留的人类染色体的类型和数量无关。相反,每条中华仓鼠染色体的SCE平均发生率不受与BS细胞和正常人细胞杂交的影响。当BS细胞与中华仓鼠/布卢姆综合征杂种细胞共培养时,在BS细胞自身中观察到约30%的SCE部分抑制。在这些杂种中,每条染色体(中华仓鼠或人类)的SCE发生率不受共培养的影响。所报道的数据表明,BS细胞中SCE的高发生率必须被视为正常功能丧失的结果,而不是获得了一种新的异常功能,并且在哺乳动物细胞复制过程中,几个独立的遗传系统可能参与了SCE的控制。因此,培养细胞系或个体中SCE的高发生率应被视为这些系统中任何一个发生突变所产生的共同表型。跨物种屏障的SCE遗传互补的出现表明,这些遗传系统中至少有一些在不同的哺乳动物物种中是同源的,并强调了体细胞杂交在研究一般SCE生物学,特别是布卢姆综合征遗传学方面的潜力。