Braverman John M, Lazzaro Brian P, Aguadé Montserrat, Langley Charles H
Department of Biology, Georgetown University, Washington, DC 20057-1229, USA.
Genetics. 2005 Jul;170(3):1153-65. doi: 10.1534/genetics.104.033456. Epub 2005 Jun 8.
Several evolutionary models of linked selection (e.g., genetic hitchhiking, background selection, and random environment) predict a reduction in polymorphism relative to divergence in genomic regions where the rate of crossing over per physical distance is restricted. We tested this prediction near the telomere of the Drosophila melanogaster and D. simulans X chromosome at two loci, erect wing (ewg) and suppressor of sable [su(s)]. Consistent with this prediction, polymorphism is reduced at both loci, while divergence is normal. The reduction is greater at ewg, the more distal of the two regions. Two models can be discriminated by comparing the observed site frequency spectra with those predicted by the models. The hitchhiking model predicts a skew toward rare variants in a sample, while the spectra under the background-selection model are similar to those of the neutral model of molecular evolution. Statistical tests of the fit to the predictions of these models require many sampled alleles and segregating sites. Thus we used SSCP and stratified DNA sequencing to cover a large number of randomly sampled alleles (approximately 50) from each of three populations. The result is a clear trend toward negative values of Tajima's D, indicating an excess of rare variants at ewg, the more distal of the two loci. One fixed difference among the populations and high FST values indicate strong population subdivision among the three populations at ewg. These results indicate genetic hitchhiking at ewg, in particular, geographically localized hitchhiking events within Africa. The reduction of polymorphism at su(s) combined with the excess of high-frequency variants in D. simulans is inconsistent with the hitchhiking and background-selection models.
几种连锁选择的进化模型(如遗传搭便车、背景选择和随机环境)预测,在每物理距离的交叉率受到限制的基因组区域,多态性相对于分歧会减少。我们在黑腹果蝇和拟暗果蝇X染色体的端粒附近的两个位点,即直立翅(ewg)和黑貂抑制基因[su(s)]处,对这一预测进行了测试。与这一预测一致,两个位点的多态性都减少了,而分歧是正常的。在ewg处减少幅度更大,ewg是两个区域中距离端粒更远的那个。通过比较观察到的位点频率谱与模型预测的谱,可以区分两种模型。遗传搭便车模型预测样本中罕见变异会出现偏差,而背景选择模型下的谱与分子进化的中性模型相似。对这些模型预测的拟合度进行统计检验需要许多抽样等位基因和分离位点。因此,我们使用单链构象多态性(SSCP)和分层DNA测序,从三个种群中的每一个随机抽样大量等位基因(约50个)。结果是,Tajima's D值呈现明显的负值趋势,表明在两个位点中距离端粒更远的ewg处,罕见变异过多。种群间的一个固定差异和高FST值表明,在ewg位点,三个种群之间存在强烈的种群细分。这些结果表明,在ewg处存在遗传搭便车现象,特别是在非洲境内地理上局部化的搭便车事件。su(s)处多态性的减少,加上拟暗果蝇中高频变异的过量,与遗传搭便车和背景选择模型不一致。