Eck Institute for Global Health, Department of Biological Sciences, University of Notre Dame, Notre Dame, Indiana 46556, USA.
Genetics. 2012 Apr;190(4):1417-32. doi: 10.1534/genetics.111.137794. Epub 2011 Dec 29.
The association between fitness-related phenotypic traits and an environmental gradient offers one of the best opportunities to study the interplay between natural selection and migration. In cases in which specific genetic variants also show such clinal patterns, it may be possible to uncover the mutations responsible for local adaptation. The malaria vector, Anopheles gambiae, is associated with a latitudinal cline in aridity in Cameroon; a large inversion on chromosome 2L of this mosquito shows large differences in frequency along this cline, with high frequencies of the inverted karyotype present in northern, more arid populations and an almost complete absence of the inverted arrangement in southern populations. Here we use a genome resequencing approach to investigate patterns of population divergence along the cline. By sequencing pools of individuals from both ends of the cline as well as in the center of the cline- where the inversion is present in intermediate frequency- we demonstrate almost complete panmixia across collinear parts of the genome and high levels of differentiation in inverted parts of the genome. Sequencing of separate pools of each inversion arrangement in the center of the cline reveals large amounts of gene flux (i.e., gene conversion and double crossovers) even within inverted regions, especially away from the inversion breakpoints. The interplay between natural selection, migration, and gene flux allows us to identify several candidate genes responsible for the match between inversion frequency and environmental variables. These results, coupled with similar conclusions from studies of clinal variation in Drosophila, point to a number of important biological functions associated with local environmental adaptation.
与健康相关的表型特征和环境梯度之间的关联为研究自然选择和迁移之间的相互作用提供了最佳机会之一。在特定遗传变异也显示出这种渐变模式的情况下,可能有可能发现导致局部适应的突变。疟疾媒介按蚊与喀麦隆干旱的纬度梯度有关;这种蚊子的 2L 染色体上的一个大型倒位在沿着这条梯度的频率上有很大的差异,在北部更干旱的种群中,倒位染色体的高频率存在,而在南部种群中几乎完全不存在倒位排列。在这里,我们使用全基因组重测序方法来研究这条梯度上的种群分歧模式。通过对梯度两端以及倒位存在的梯度中心的个体群体进行测序,我们证明了在基因组的共线性部分几乎完全是混合的,而在基因组的倒位部分则存在高度的分化。在梯度中心对每个倒位排列的单独群体进行测序,揭示了大量的基因流动(即基因转换和双交叉),即使在倒位区域内也是如此,尤其是远离倒位断点的区域。自然选择、迁移和基因流动之间的相互作用使我们能够确定几个候选基因,这些基因与倒位频率和环境变量之间的匹配有关。这些结果,加上对果蝇梯度变异的类似研究得出的结论,指出了与局部环境适应相关的许多重要生物学功能。