Unité Mixte de Recherche Ecologie des forêts de Guyane, University of French West Indies and French Guiana, Kourou, French Guiana.
PLoS One. 2012;7(7):e40699. doi: 10.1371/journal.pone.0040699. Epub 2012 Jul 13.
Simple sequence repeat (SSR) markers are widely used tools for inferences about genetic diversity, phylogeography and spatial genetic structure. Their applications assume that variation among alleles is essentially caused by an expansion or contraction of the number of repeats and that, accessorily, mutations in the target sequences follow the stepwise mutation model (SMM). Generally speaking, PCR amplicon sizes are used as direct indicators of the number of SSR repeats composing an allele with the data analysis either ignoring the extent of allele size differences or assuming that there is a direct correlation between differences in amplicon size and evolutionary distance. However, without precisely knowing the kind and distribution of polymorphism within an allele (SSR and the associated flanking region (FR) sequences), it is hard to say what kind of evolutionary message is conveyed by such a synthetic descriptor of polymorphism as DNA amplicon size. In this study, we sequenced several SSR alleles in multiple populations of three divergent tree genera and disentangled the types of polymorphisms contained in each portion of the DNA amplicon containing an SSR. The patterns of diversity provided by amplicon size variation, SSR variation itself, insertions/deletions (indels), and single nucleotide polymorphisms (SNPs) observed in the FRs were compared. Amplicon size variation largely reflected SSR repeat number. The amount of variation was as large in FRs as in the SSR itself. The former contributed significantly to the phylogenetic information and sometimes was the main source of differentiation among individuals and populations contained by FR and SSR regions of SSR markers. The presence of mutations occurring at different rates within a marker's sequence offers the opportunity to analyse evolutionary events occurring on various timescales, but at the same time calls for caution in the interpretation of SSR marker data when the distribution of within-locus polymorphism is not known.
简单序列重复 (SSR) 标记被广泛用于遗传多样性、系统地理学和空间遗传结构的推断。它们的应用前提是等位基因之间的变异主要是由重复数目的扩展或收缩引起的,并且目标序列中的突变遵循逐步突变模型 (SMM)。一般来说,PCR 扩增子大小被用作构成等位基因的 SSR 重复数的直接指标,数据分析要么忽略等位基因大小差异的程度,要么假设扩增子大小和进化距离之间存在直接相关性。然而,如果不能准确了解等位基因内(SSR 及其相关侧翼区域 (FR) 序列)的多态性类型和分布,就很难说 DNA 扩增子大小这样的多态性综合描述传达了什么样的进化信息。在这项研究中,我们对三个不同树种的多个种群中的几个 SSR 等位基因进行了测序,并梳理了每个包含 SSR 的 DNA 扩增子部分中包含的多态性类型。比较了扩增子大小变化、SSR 本身、插入/缺失 (indels) 和 FR 中观察到的单核苷酸多态性 (SNP) 提供的多样性模式。扩增子大小变化在很大程度上反映了 SSR 重复数。FR 中的变异量与 SSR 本身一样大。前者对系统发育信息有很大贡献,有时是 FR 和 SSR 区域内包含的个体和种群分化的主要来源。在标记序列内以不同速率发生的突变的存在为分析在不同时间尺度上发生的进化事件提供了机会,但同时也需要在不了解基因内多态性分布的情况下谨慎解释 SSR 标记数据。