Schiestl R H, Aubrecht J, Khogali F, Carls N
Department of Molecular and Cellular Toxicology, Harvard School of Public Health, 665 Huntington Avenue, Boston, MA 02115, USA.
Proc Natl Acad Sci U S A. 1997 Apr 29;94(9):4576-81. doi: 10.1073/pnas.94.9.4576.
Deletions and other genome rearrangements are associated with carcinogenesis and inheritable diseases. The pink-eyed unstable (pun) mutation in the mouse is caused by duplication of a 70-kb internal fragment of the p gene. Spontaneous reversion events in homozygous pun/pun mice occur through deletion of a duplicated sequence. Reversion events in premelanocytes in the mouse embryo detected as black spots on the gray fur of the offspring were inducible by the carcinogen x-rays, ethyl methanesulfonate, methyl methanesulfonate, ethyl nitrosourea, benzo[a]pyrene, trichloroethylene, benzene, and sodium arsenate. The latter three carcinogens are not detectable with several in vitro or in vivo mutagenesis assays. We studied the molecular mechanism of the carcinogen-induced reversion events by cDNA analysis using reverse transcriptase-PCR method and identified the induced reversion events as deletions. DNA deletion assays may be sensitive indicators for carcinogen exposure.
缺失及其他基因组重排与致癌作用和遗传性疾病相关。小鼠中的粉红眼不稳定(pun)突变是由p基因的一个70 kb内部片段重复所致。纯合pun/pun小鼠中的自发回复突变事件是通过缺失重复序列而发生的。在小鼠胚胎的前黑素细胞中发生的回复突变事件,在后代的灰色皮毛上表现为黑点,可被致癌物X射线、甲磺酸乙酯、甲基磺酸甲酯、乙基亚硝基脲、苯并[a]芘、三氯乙烯、苯和砷酸钠诱导。后三种致癌物在几种体外或体内诱变试验中无法检测到。我们使用逆转录-聚合酶链反应方法通过cDNA分析研究了致癌物诱导的回复突变事件的分子机制,并将诱导的回复突变事件鉴定为缺失。DNA缺失检测可能是致癌物暴露的敏感指标。