Intragenic tandem repeats generate functional variability

被引:452
作者
Verstrepen, KJ
Jansen, A
Lewitter, F
Fink, GR
机构
[1] MIT, Whitehead Inst Biomed Res, Cambridge, MA 02142 USA
[2] Katholieke Univ Leuven, Fac Appl Biosci & Engn, Dept Microbial & Mol Syst, Ctr Malting & Brewing Sci, B-3001 Leuven, Belgium
关键词
D O I
10.1038/ng1618
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Tandemly repeated DNA sequences are highly dynamic components of genomes(1). Most repeats are in intergenic regions, but some are in coding sequences or pseudogenes(2). In humans, expansion of intragenic triplet repeats is associated with various diseases, including Huntington chorea and fragile X syndrome(3,4). 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.
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收藏
页码:986 / 990
页数:5
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