Potter Michael
Laboratory of Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Health and Human Services, Bethesda, MD 20892, USA.
J Natl Cancer Inst Monogr. 2008(39):2-7. doi: 10.1093/jncimonographs/lgn013.
The discovery of chromosomes emerged from the cytological analysis of mitosis in the 1870s. At the turn of the 20th century, cytologists and geneticists established that chromosomes carried the hereditary material. In the early 20th century, Theodore Boveri, recognizing the nonequivalence of individual chromosomes, began thinking about the biological consequences of imbalances of chromosomal compositions in somatic cells and how these might explain the origin of cancer. Many of his predictions would have to wait for confirmation until the 1950--1960s, when mammalian cytogenetics became feasible with the use of ascites tumors as sources of metaphases. This advance coupled with the discovery of G banding by Caspersson and his associates led to finding characteristic recurring chromosomal abnormalities in certain kinds of tumors. Chromosomal translocations that were associated with promoter deregulations or the formation of novel fusion genes were the prime models. This continuing progress combined with dramatic advances in DNA structure, transcription, and repair have provided new insights into the role of this class of mutations in neoplastic development.
染色体的发现源于19世纪70年代对有丝分裂的细胞学分析。在20世纪之交，细胞学家和遗传学家确定染色体携带遗传物质。20世纪初，西奥多·博韦里认识到个体染色体的不等价性，开始思考体细胞中染色体组成失衡的生物学后果，以及这些后果如何解释癌症的起源。他的许多预测直到20世纪50至60年代才得到证实，当时利用腹水肿瘤作为中期细胞的来源，哺乳动物细胞遗传学变得可行。这一进展与卡斯珀松及其同事发现的G带相结合，导致在某些类型的肿瘤中发现了特征性的反复出现的染色体异常。与启动子失调或新型融合基因形成相关的染色体易位是主要模型。这一持续的进展与DNA结构、转录和修复方面的巨大进步相结合，为这类突变在肿瘤发生发展中的作用提供了新的见解。
