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基因内串联重复产生功能变异性。

Intragenic tandem repeats generate functional variability.

作者信息

Verstrepen Kevin J, Jansen An, Lewitter Fran, Fink Gerald R

机构信息

Whitehead Institute for Biomedical Research/Massachusetts Institute of Technology, Nine Cambridge Center, Cambridge, Massachusetts 02142, USA.

出版信息

Nat Genet. 2005 Sep;37(9):986-90. doi: 10.1038/ng1618. Epub 2005 Aug 7.

Abstract

Tandemly repeated DNA sequences are highly dynamic components of genomes. Most repeats are in intergenic regions, but some are in coding sequences or pseudogenes. In humans, expansion of intragenic triplet repeats is associated with various diseases, including Huntington chorea and fragile X syndrome. The persistence of intragenic repeats in genomes suggests that there is a compensating benefit. Here we show that in the genome of Saccharomyces cerevisiae, most genes containing intragenic repeats encode cell-wall proteins. The repeats trigger frequent recombination events in the gene or between the gene and a pseudogene, causing expansion and contraction in the gene size. This size variation creates quantitative alterations in phenotypes (e.g., adhesion, flocculation or biofilm formation). We propose that variation in intragenic repeat number provides the functional diversity of cell surface antigens that, in fungi and other pathogens, allows rapid adaptation to the environment and elusion of the host immune system.

摘要

串联重复DNA序列是基因组中高度动态的组成部分。大多数重复序列位于基因间区域,但有些位于编码序列或假基因中。在人类中,基因内三联体重复序列的扩增与多种疾病相关,包括亨廷顿舞蹈病和脆性X综合征。基因内重复序列在基因组中的持续存在表明存在一种补偿性益处。在这里,我们表明,在酿酒酵母基因组中,大多数含有基因内重复序列的基因编码细胞壁蛋白。这些重复序列会在基因内或基因与假基因之间引发频繁的重组事件,导致基因大小的扩增和收缩。这种大小变化会引起表型的定量改变(如黏附、絮凝或生物膜形成)。我们提出,基因内重复序列数量的变化提供了细胞表面抗原的功能多样性,在真菌和其他病原体中,这种多样性能够使其快速适应环境并躲避宿主免疫系统。

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Intragenic tandem repeats generate functional variability.基因内串联重复产生功能变异性。
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