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How Repeatable Are Associations Between Polymorphisms in achaete–scute and Bristle Number Variation in Drosophila?

机译:achaete-scute多态性与果蝇硬毛数变异之间的关联如何可重复?

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摘要

Currently, the relevance of common genetic variants—particularly those significantly associated with phenotypic variation in laboratory studies—to standing phenotypic variation in the wild is poorly understood. To address this, we quantified the relationship between achaete–scute complex (ASC) polymorphisms and Drosophila bristle number phenotypes in several new population samples. MC22 is a biallelic, nonrepetitive-length polymorphism 97 bp downstream of the scute transcript. It has been previously shown to be associated with sternopleural bristle number variation in both sexes in a set of isogenic lines. We replicated this association in a large cohort of wild-caught Drosophila melanogaster. We also detected a significant association at MC22 in an outbred population maintained under laboratory conditions for ∼25 years, but the phenotypic effects in this sample were opposite from the direction estimated in the initial study. Finally, no significant associations were detected in a second large wild-caught cohort or in a set of 134 nearly isogenic lines. Our ability to repeat the initial association in wild samples suggests that it was not spurious. Nevertheless, inconsistent results from the other three panels suggest that the relationship between polymorphic genetic markers and loci contributing to continuous variation is not a simple one.
机译:目前,人们对常见遗传变异(尤其是在实验室研究中与表型变异显着相关的遗传变异)与野外站立表型变异之间的相关性了解甚少。为了解决这个问题,我们在几个新的人群样本中量化了羊驼毛—复杂壳动物(ASC)多态性与果蝇刚毛数表型之间的关系。 MC22是双等位基因,非重复长度多态性,位于螺旋转录本下游97 bp。先前已证明,在一组同基因系中,这与男女的胸膜硬毛数目变化有关。我们在一大批野生黑腹果蝇中复制了这种关联。我们还在实验室条件下维持了约25年的近交人群中,在MC22处发现了显着关联,但该样品的表型效应与最初研究中估计的方向相反。最后,在第二个大型野生种群或一组134个近等基因系中未检测到显着关联。我们在野生样本中重复初始关联的能力表明,这不是虚假的。然而,其他三个小组的不一致结果表明,多态性遗传标记与导致连续变异的基因座之间的关系并不是一个简单的问题。

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