School of Biological Sciences, University of Canterbury, Christchurch, New Zealand.
PLoS One. 2011;6(12):e29582. doi: 10.1371/journal.pone.0029582. Epub 2011 Dec 27.
Microsatellites are popular genetic markers in molecular ecology, genetic mapping and forensics. Unfortunately, despite recent advances, the isolation of de novo polymorphic microsatellite loci often requires expensive and intensive groundwork. Primers developed for a focal species are commonly tested in a related, non-focal species of interest for the amplification of orthologous polymorphic loci; when successful, this approach significantly reduces cost and time of microsatellite development. However, transferability of polymorphic microsatellite loci decreases rapidly with increasing evolutionary distance, and this approach has shown its limits. Whole genome sequences represent an under-exploited resource to develop cross-species primers for microsatellites. Here we describe a three-step method that combines a novel in silico pipeline that we use to (1) identify conserved microsatellite loci from a multiple genome alignments, (2) design degenerate primer pairs, with (3) a simple PCR protocol used to implement these primers across species. Using this approach we developed a set of primers for the mammalian clade. We found 126,306 human microsatellites conserved in mammalian aligned sequences, and isolated 5,596 loci using criteria based on wide conservation. From a random subset of ~1000 dinucleotide repeats, we designed degenerate primer pairs for 19 loci, of which five produced polymorphic fragments in up to 18 mammalian species, including the distinctly related marsupials and monotremes, groups that diverged from other mammals 120-160 million years ago. Using our method, many more cross-clade microsatellite loci can be harvested from the currently available genomic data, and this ability is set to improve exponentially as further genomes are sequenced.
微卫星是分子生态学、遗传图谱和法医学中常用的遗传标记。不幸的是,尽管最近取得了进展,但从头开始分离新的多态性微卫星基因座通常需要昂贵和密集的基础工作。为焦点物种开发的引物通常在相关的非焦点感兴趣物种中进行测试,以扩增同源多态性基因座;当成功时,这种方法可以显著降低微卫星开发的成本和时间。然而,随着进化距离的增加,多态性微卫星基因座的可转移性迅速降低,这种方法已经显示出其局限性。全基因组序列是开发跨物种微卫星引物的未充分利用的资源。在这里,我们描述了一种三步法,该方法结合了一种新的计算管道,我们使用该管道(1)从多个基因组比对中识别保守的微卫星基因座,(2)设计简并引物对,(3)使用简单的 PCR 方案在物种间实施这些引物。使用这种方法,我们为哺乳动物进化枝开发了一组引物。我们在哺乳动物比对序列中发现了 126306 个人类微卫星保守基因座,并根据广泛保守的标准分离了 5596 个基因座。从大约 1000 个二核苷酸重复的随机子集中,我们设计了 19 个基因座的简并引物对,其中 5 个在多达 18 种哺乳动物中产生了多态性片段,包括明显相关的有袋动物和单孔目动物,这两个群体与其他哺乳动物分化了 1.2 亿到 1.6 亿年。使用我们的方法,可以从当前可用的基因组数据中收获更多的跨进化枝微卫星基因座,并且随着进一步的基因组测序,这种能力将呈指数级提高。