Department of Biology, Syracuse University Syracuse, NY, USA.
Front Microbiol. 2014 Jul 18;5:352. doi: 10.3389/fmicb.2014.00352. eCollection 2014.
Information about a gene sometimes can be deduced by examining the impact of its mutation on phenotype. However, the genome-scale utility of the method is limited because, for nearly all model organisms, the majority of mutations result in little or no observable phenotypic impact. The cause of this is often attributed to robustness or redundancy within the genome, but that is only one plausible hypothesis. We examined a standard set of phenotypic traits, and applied statistical methods commonly used in the study of natural variants to an engineered mutant strain collection representing disruptions in 180 of the 192 ABC transporters within the bacterium Myxococcus xanthus. These strains display continuous variation in their phenotypic distributions, with a small number of "outlier" strains at both phenotypic extremes, and the majority within a confidence interval about the mean that always includes wild type. Correlation analysis reveals substantial pleiotropy, indicating that the traits do not represent independent variables. The traits measured in this study co-cluster with expression profiles, thereby demonstrating that these changes in phenotype correspond to changes at the molecular level, and therefore can be indirectly connected to changes in the genome. However, the continuous distributions, the pleiotropy, and the placement of wild type always within the confidence interval all indicate that this standard set of M. xanthus phenotypic assays is measuring a narrow range of partially overlapping traits that do not directly reflect fitness. This is likely a significant cause of the observed small phenotypic impact from mutation, and is unrelated to robustness and redundancy.
关于基因的信息有时可以通过检查其突变对表型的影响来推断。然而,由于对于几乎所有的模式生物来说,大多数突变都导致几乎没有或没有可观察到的表型影响,因此该方法在基因组范围内的应用受到限制。造成这种情况的原因通常归因于基因组内的稳健性或冗余性,但这只是一个合理的假设。我们检查了一组标准的表型特征,并应用了通常用于研究自然变异的统计方法,对代表 192 种 ABC 转运蛋白中的 180 种破坏的工程突变株系进行了研究,该菌是粘细菌 Myxococcus xanthus 中的。这些菌株的表型分布呈连续变化,少数“异常”菌株位于表型极端,而大多数菌株位于均值置信区间内,其中总是包括野生型。相关性分析显示出大量的多效性,表明这些性状不是独立变量。本研究中测量的性状与表达谱聚类,从而证明这些表型变化与分子水平的变化相对应,因此可以间接与基因组的变化联系起来。然而,连续分布、多效性以及野生型总是位于置信区间内,这一切都表明,这组标准的粘细菌表型测定方法正在测量一个狭窄的、部分重叠的性状范围,这些性状并不能直接反映适应性。这可能是观察到的突变引起的小表型影响的一个重要原因,与稳健性和冗余性无关。