Kofler Robert, Schlötterer Christian, Luschützky Evita, Lelley Tamas
University of Natural Resources and Applied Life Sciences, Department for Agrobiotechnology IFA-Tulln, Institute of Biotechnology in Plant Production, Tulln, Austria.
BMC Genomics. 2008 Dec 17;9:612. doi: 10.1186/1471-2164-9-612.
Compound microsatellites are a special variation of microsatellites in which two or more individual microsatellites are found directly adjacent to each other. Until now, such composite microsatellites have not been investigated in a comprehensive manner.
Our in silico survey of microsatellite clustering in genomes of Homo sapiens, Maccaca mulatta, Mus musculus, Rattus norvegicus, Ornithorhynchus anatinus, Gallus gallus, Danio rerio and Drosophila melanogaster revealed an unexpected high abundance of compound microsatellites. About 4 - 25% of all microsatellites could be categorized as compound microsatellites. Compound microsatellites are approximately 15 times more frequent than expected under the assumption of a random distribution of microsatellites. Interestingly, microsatellites do not only tend to cluster but the adjacent repeat types of compound microsatellites have very similar motifs: in most cases (>90%) these motifs differ only by a single mutation (base substitution or indel). We propose that the majority of the compound microsatellites originates by duplication of imperfections in a microsatellite tract. This process occurs mostly at the end of a microsatellite, leading to a new repeat type and a potential microsatellite repeat track.
Our findings suggest a more dynamic picture of microsatellite evolution than previously believed. Imperfections within microsatellites might not only cause the "death" of microsatellites they might also result in their "birth".
复合微卫星是微卫星的一种特殊变体,其中两个或更多个单独的微卫星彼此直接相邻。到目前为止,尚未对这类复合微卫星进行全面研究。
我们对人类、猕猴、小鼠、大鼠、鸭嘴兽、鸡、斑马鱼和果蝇基因组中的微卫星聚类进行的电子调查显示,复合微卫星的丰度出乎意料地高。所有微卫星中约4%-25%可归类为复合微卫星。复合微卫星的出现频率比假设微卫星随机分布时预期的频率高出约15倍。有趣的是,微卫星不仅倾向于聚类,而且复合微卫星相邻的重复类型具有非常相似的基序:在大多数情况下(>90%),这些基序仅相差一个突变(碱基替换或插入缺失)。我们提出,大多数复合微卫星起源于微卫星序列中缺陷的复制。这个过程主要发生在微卫星的末端,导致一种新的重复类型和一个潜在的微卫星重复序列。
我们的研究结果表明,微卫星进化的情况比之前认为的更具动态性。微卫星内部的缺陷不仅可能导致微卫星的“死亡”,还可能导致它们的“诞生”。