Shiraishi Y, Matsui S, Sandberg A A
Science. 1981 May 15;212(4496):820-2. doi: 10.1126/science.7221565.
Fusion of fresh lymphocytes from a Bloom syndrome (BS) patient with those of normal subjects or a BS heterozygote resulted in complete normalization of the frequency of sister chromatid exchanges in the chromosomes of BS cells. This normalization took place by the first mitosis in hybrid cells. In contrast, cultivation of BS lymphocytes with those of normal subjects or the BS heterozygote had no effect on sister chromatid exchanges. The cell fusion experiments suggest that the normalization on the sister chromatid exchanges. The cell fusion experiments suggest that the normalization of the sister chromatid exchange frequencies in BS cells can be achieved by factors conserved in the cells of various mammalian species. These findings are compatible with the concept that BS is a recessive genetic mutation at regulatory levels of the DNA repair function.
将一名布卢姆综合征(BS)患者的新鲜淋巴细胞与正常受试者或BS杂合子的淋巴细胞融合,可使BS细胞染色体中姐妹染色单体交换频率完全正常化。这种正常化在杂交细胞的第一次有丝分裂时发生。相比之下,将BS淋巴细胞与正常受试者或BS杂合子的淋巴细胞共同培养,对姐妹染色单体交换没有影响。细胞融合实验表明,姐妹染色单体交换的正常化。细胞融合实验表明,BS细胞中姐妹染色单体交换频率的正常化可通过各种哺乳动物细胞中保守的因子实现。这些发现与BS是DNA修复功能调控水平上的隐性基因突变这一概念相符。