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基因顺序和基因表达的变化。

Changes in gene order and gene expression.

作者信息

Shapiro J A

出版信息

Natl Cancer Inst Monogr. 1982;60:87-110.

PMID:6289110
Abstract

Studies on changes in gene position in germ line and somatic cell chromosomes during evolution and differentiation have led biologists to abandon the static view of chromosomes as invariant linear arrays of hereditary information. Prokaryotic cells contain several classes of DNA insertion elements which move from place to place in the genome and mediate chromosome rearrangements. Similar elements exist in a wide variety of eukaryotic organisms (yeasts, insects, plants, and vertebrates). In addition, both reversible and irreversible changes of chromosome primary structure provide developmental controls on gene activity in bacteria, bacteriophages, yeasts, trypanosomes, and mammalian lymphocytes. At least five recombination mechanisms are known to catalyze chromosome changes: 1) general homologous, 2) site-specific reciprocal, 3) illegitimate, 4) DNA splicing, and 5) replicative. Various combinations of these mechanisms can explain many different chromosome rearrangements and changes in gene dosage. Changes in gene position can alter gene expression in many ways, some of which we understand (such as insertional mutation and inversion of coding and regulatory sequences) and some of which are still unexplained. The activities of DNA insertion elements and somatic rearrangement systems are subjects to controls at several levels by specific regulatory systems, natural selection, and connection to cell lineage. Despite the recent increase in knowledge about the biological importance of changes in gene order on chromosomes, there are far more questions than answers, particularly about the mechanisms that coordinate recombination events and cell division in higher organisms.

摘要

关于在进化和分化过程中生殖细胞和体细胞染色体基因位置变化的研究,使生物学家摒弃了将染色体视为遗传信息不变线性阵列的静态观点。原核细胞含有几类DNA插入元件,它们在基因组中四处移动并介导染色体重排。类似的元件存在于多种真核生物(酵母、昆虫、植物和脊椎动物)中。此外,染色体一级结构的可逆和不可逆变化对细菌、噬菌体、酵母、锥虫和哺乳动物淋巴细胞中的基因活性提供了发育控制。已知至少有五种重组机制可催化染色体变化:1)一般同源重组,2)位点特异性相互重组,3)非同源重组,4)DNA剪接,5)复制性重组。这些机制的各种组合可以解释许多不同的染色体重排和基因剂量变化。基因位置的变化可以通过多种方式改变基因表达,其中一些我们已经了解(如插入突变以及编码和调控序列的倒置),而有些仍无法解释。DNA插入元件和体细胞重排系统的活性受到特定调控系统、自然选择以及与细胞谱系联系等多个层面的控制。尽管最近关于染色体上基因顺序变化的生物学重要性的知识有所增加,但问题远多于答案,尤其是关于高等生物中协调重组事件和细胞分裂的机制。

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