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对黑腹果蝇中处于平衡选择下的基因进行全基因组扫描。

A genome-wide scan for genes under balancing selection in Drosophila melanogaster.

作者信息

Croze Myriam, Wollstein Andreas, Božičević Vedran, Živković Daniel, Stephan Wolfgang, Hutter Stephan

机构信息

Section of Evolutionary Biology, Department of Biology II, University of Munich (LMU), Grosshaderner Str. 2, 82152, Planegg-Martinsried, Germany.

Center of Food and Life Sciences Weihenstephan, Technische Universität München, 85354, Freising, Germany.

出版信息

BMC Evol Biol. 2017 Jan 13;17(1):15. doi: 10.1186/s12862-016-0857-z.

Abstract

BACKGROUND

In the history of population genetics balancing selection has been considered as an important evolutionary force, yet until today little is known about its abundance and its effect on patterns of genetic diversity. Several well-known examples of balancing selection have been reported from humans, mice, plants, and parasites. However, only very few systematic studies have been carried out to detect genes under balancing selection. We performed a genome scan in Drosophila melanogaster to find signatures of balancing selection in a derived (European) and an ancestral (African) population. We screened a total of 34 genomes searching for regions of high genetic diversity and an excess of SNPs with intermediate frequency.

RESULTS

In total, we found 183 candidate genes: 141 in the European population and 45 in the African one, with only three genes shared between both populations. Most differences between both populations were observed on the X chromosome, though this might be partly due to false positives. Functionally, we find an overrepresentation of genes involved in neuronal development and circadian rhythm. Furthermore, some of the top genes we identified are involved in innate immunity.

CONCLUSION

Our results revealed evidence of genes under balancing selection in European and African populations. More candidate genes have been found in the European population. They are involved in several different functions.

摘要

背景

在群体遗传学历史中,平衡选择一直被视为一种重要的进化力量,但直至今日,人们对其普遍性及其对遗传多样性模式的影响仍知之甚少。人类、小鼠、植物和寄生虫中都有一些平衡选择的著名例子被报道。然而,只有极少数系统研究是为了检测处于平衡选择下的基因而开展的。我们在黑腹果蝇中进行了一次全基因组扫描,以在一个衍生(欧洲)群体和一个祖先(非洲)群体中寻找平衡选择的特征。我们总共筛查了34个基因组,寻找高遗传多样性区域以及具有中等频率的单核苷酸多态性(SNP)过量的区域。

结果

我们总共发现了183个候选基因:欧洲群体中有141个,非洲群体中有45个,两个群体之间只有三个基因是共有的。两个群体之间的大多数差异在X染色体上被观察到,不过这可能部分是由于假阳性结果。在功能方面,我们发现参与神经元发育和昼夜节律的基因出现超量表达。此外,我们鉴定出的一些顶级基因与先天免疫有关。

结论

我们的结果揭示了欧洲和非洲群体中存在处于平衡选择下的基因的证据。在欧洲群体中发现了更多的候选基因。它们涉及几种不同的功能。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/039e/5237213/f695618bcbe7/12862_2016_857_Fig1_HTML.jpg

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