Portin Petter
Department of Biology, Laboratory of Genetics, University of Turku, FIN-20014 Turku, Finland.
J Med Philos. 2002 Jun;27(3):257-86. doi: 10.1076/jmep.27.3.257.2980.
The classical view of the gene prevailing during the 1910s and 1930s comprehended the gene as the indivisible unit of genetic transmission, genetic recombination, gene mutation and gene function. The discovery of intragenic recombination in the early 1940s led to the neoclassical concept of the gene, which prevailed until the 1970s. In this view the gene or cistron, as it was now called, was divided into its constituent parts, the mutons and recons, materially identified as nucleotides. Each cistron was believed to be responsible for the synthesis of one single mRNA and concurrently for one single polypeptide. The discoveries of DNA technology, beginning in the early 1970s, have led to the second revolution in the concept of the gene in which none of the classical or neoclassical criteria for the definition of the gene hold strictly true. These are the discoveries concerning gene repetition and overlapping, movable genes, complex promoters, multiple polyadenylation sites, polyprotein genes, editing of the primary transcript, pseudogenes and gene nesting. Thus, despite the fact that our comprehension of the structure and organization of the genetic material has greatly increased, we are left with a rather abstract, open and general concept of the gene. This article discusses past and present contemplations of genes, genomes, genotypes and phenotypes as well as the most recent advances of the study of the organization of genomes.
20世纪10年代至30年代盛行的基因经典观点认为,基因是遗传传递、基因重组、基因突变和基因功能的不可分割单位。20世纪40年代初基因内重组的发现导致了基因的新古典概念,该概念一直盛行到20世纪70年代。按照这种观点,基因或顺反子(现在这样称呼)被划分成其组成部分,即突变子和重组子,它们在物质上被确定为核苷酸。每个顺反子被认为负责合成一条单一的信使核糖核酸(mRNA),同时负责合成一条单一的多肽。始于20世纪70年代初的DNA技术的发现,导致了基因概念的第二次革命,在这场革命中,基因定义的经典或新古典标准没有一条严格成立。这些发现涉及基因重复与重叠、可移动基因、复杂启动子、多个聚腺苷酸化位点、多蛋白基因、初级转录物的编辑、假基因和基因嵌套。因此,尽管我们对遗传物质的结构和组织的理解有了很大提高,但我们对基因的概念仍然相当抽象、开放和宽泛。本文讨论了过去和现在对基因、基因组、基因型和表型的思考,以及基因组组织研究的最新进展。