Unstable microsatellite repeats facilitate rapid evolution of coding and regulatory sequences.

Genome dynamics Pub Date : 2012-01-01 Epub Date: 2012-06-25 DOI:10.1159/000337121
A Jansen, R Gemayel, K J Verstrepen
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引用次数: 42

Abstract

Tandem repeats are intrinsically highly variable sequences since repeat units are often lost or gained during replication or following unequal recombination events. Because of their low complexity and their instability, these repeats, which are also called satellite repeats, are often considered to be useless 'junk' DNA. However, recent findings show that tandem repeats are frequently found within promoters of stress-induced genes and within the coding regions of genes encoding cell-surface and regulatory proteins. Interestingly, frequent changes in these repeats often confer phenotypic variability. Examples include variation in the microbial cell surface, rapid tuning of internal molecular clocks in flies, and enhanced morphological plasticity in mammals. This suggests that instead of being useless junk DNA, some variable tandem repeats are useful functional elements that confer 'evolvability', facilitating swift evolution and rapid adaptation to changing environments. Since changes in repeats are frequent and reversible, repeats provide a unique type of mutation that bridges the gap between rare genetic mutations, such as single nucleotide polymorphisms, and highly unstable but reversible epigenetic inheritance.

不稳定的微卫星重复序列促进了编码和调控序列的快速进化。
串联重复序列本质上是高度可变的序列,因为重复单元经常在复制过程中或在不相等的重组事件中丢失或获得。由于它们的低复杂性和不稳定性,这些重复序列,也被称为卫星重复序列,通常被认为是无用的“垃圾”DNA。然而,最近的研究结果表明,串联重复序列经常出现在应激诱导基因的启动子中,以及编码细胞表面和调节蛋白的基因的编码区域中。有趣的是,这些重复序列的频繁变化通常会导致表型变异。例子包括微生物细胞表面的变异,苍蝇内部分子钟的快速调整,以及哺乳动物形态可塑性的增强。这表明,一些可变串联重复序列不是无用的垃圾DNA,而是赋予“可进化性”的有用功能元素,促进快速进化和快速适应不断变化的环境。由于重复序列的变化是频繁和可逆的,重复序列提供了一种独特的突变类型,弥补了罕见基因突变(如单核苷酸多态性)和高度不稳定但可逆的表观遗传之间的差距。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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