The effect of polymorphisms in the Enhancer of split gene complex on bristle number variation in a large wild-caught cohort of Drosophila melanogaster
The effect of polymorphisms in the Enhancer of split gene complex on bristle number variation in a large wild-caught cohort of Drosophila melanogaster
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DOI：
10.1534/genetics.105.045344
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发表时间：
2005-12-01
期刊：
影响因子：
3.3
通讯作者：
Long, AD
中科院分区：
文献类型：
--
作者：
Macdonald, SJ;Pastinen, T;Long, AD
果蝇分裂复合体增强子[E(spl)-C]包含多种控制刚毛模式的功能元件，根据先前的工作，它是包含对刚毛数量变化有微妙影响的等位基因的强有力的候选者。在这里，我们扩展了早期的研究，确定了在果蝇的自交系中分离的复杂表型和多态性之间的关联，并测试了E(spl)-C对自然队列中刚毛数量变化的影响。我们描述了一项关联图谱研究的结果，该研究使用了分布在2000年野生捕获的黑腹果蝇E(spl)-C基因型中的203个多态性。尽管检测到的关联仅占刚毛数分离变异的2%，并且该区域充满单核苷酸多态性（SNP），但经过多次测试校正后，我们发现没有单一SNP市场显示出显著的（位点上的加性）效应。使用一种新开发的测试，我们保守地确定了E (spl)- c的六个区域，其中转座因子的插入作为一类有助于刚毛数量的变化，显然是以性别或性状限制的方式。最后，我们对上位性进行了所有可能的20,503次双向测试，并确定了轻微过量的边际显著相互作用，尽管没有一次通过多次测试校正。将基于实验室的关联研究结果扩展到自然种群可能并不容易。
The Enhancer of split complex [E(spl)-C] in Drosophila encompasses a variety of functional elements controlling bristle patterning and on the basis of prior work is a strong candidate for harboring alleles having subtle effects on bristle number variation. Here we extend earlier studies identifying associations between complex phenotypes and polymorphisms segregating among inbred laboratory lines of Drosophila and test the influence of E(spl)-C on bristle number variation in a natural cohort. We describe results from an association mapping study using 203 polymorphisms spread throughout the E(spl)-C genotyped in 2000 wild-caught Drosophila melanogaster. Despite power to detect associations accounting for as little as 2% of segregating variation for bristle number, and saturating the region with single-nucleotide polymorphisms (SNPs), we identified no single SNP market showing a significant (additive over loci) effect after correcting for multiple tests. Using a newly developed test we conservatively identify six regions of the E (spl)-C in which the insertion of transposable elements as a class contributes to variation in bristle number, apparently in a sex- or trait-limited fashion. Finally, we carry out all possible 20,503 two-way tests for epistasis and identify a slight excess of marginally significant interactions, although none survive multiple-testing correction. It may not be straightforward to extend the results of laboratory-based association studies to natural populations.