Raquin Anne-Laure, Depaulis Frantz, Lambert Amaury, Galic Nathalie, Brabant Philippe, Goldringer Isabelle
UMR de Genetique Vegetale, INRA, CNRS, Universite Paris, Sud, AgroParisTech, Ferme du Moulon, Gif-sur-Yvettem France.
Genetics. 2008 Aug;179(4):2195-211. doi: 10.1534/genetics.107.071332. Epub 2008 Aug 9.
Microsatellite markers are extensively used to evaluate genetic diversity in natural or experimental evolving populations. Their high degree of polymorphism reflects their high mutation rates. Estimates of the mutation rates are therefore necessary when characterizing diversity in populations. As a complement to the classical experimental designs, we propose to use experimental populations, where the initial state is entirely known and some intermediate states have been thoroughly surveyed, thus providing a short timescale estimation together with a large number of cumulated meioses. In this article, we derived four original gene genealogy-based methods to assess mutation rates with limited bias due to relevant model assumptions incorporating the initial state, the number of new alleles, and the genetic effective population size. We studied the evolution of genetic diversity at 21 microsatellite markers, after 15 generations in an experimental wheat population. Compared to the parents, 23 new alleles were found in generation 15 at 9 of the 21 loci studied. We provide evidence that they arose by mutation. Corresponding estimates of the mutation rates ranged from 0 to 4.97 x 10(-3) per generation (i.e., year). Sequences of several alleles revealed that length polymorphism was only due to variation in the core of the microsatellite. Among different microsatellite characteristics, both the motif repeat number and an independent estimation of the Nei diversity were correlated with the novel diversity. Despite a reduced genetic effective size, global diversity at microsatellite markers increased in this population, suggesting that microsatellite diversity should be used with caution as an indicator in biodiversity conservation issues.
微卫星标记被广泛用于评估自然或实验进化种群中的遗传多样性。它们高度的多态性反映了其高突变率。因此,在描述种群多样性时,有必要估计突变率。作为对经典实验设计的补充,我们建议使用实验种群,其初始状态完全已知,并且一些中间状态已得到充分调查,从而提供一个短时间尺度的估计以及大量累积的减数分裂。在本文中,我们推导了四种基于基因谱系的原始方法,以评估由于纳入初始状态、新等位基因数量和遗传有效种群大小的相关模型假设而导致的偏差有限的突变率。我们研究了一个实验小麦种群在15代后21个微卫星标记处的遗传多样性进化。与亲本相比,在研究的21个位点中的9个位点的第15代中发现了23个新等位基因。我们提供证据表明它们是由突变产生的。相应的突变率估计范围为每代(即每年)0至4.97×10⁻³。几个等位基因的序列显示,长度多态性仅归因于微卫星核心的变异。在不同的微卫星特征中,基序重复数和对Nei多样性的独立估计都与新的多样性相关。尽管遗传有效大小有所降低,但该种群中微卫星标记的总体多样性增加了,这表明在生物多样性保护问题中,将微卫星多样性用作指标时应谨慎使用。