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黑腹果蝇微卫星的突变与进化

Mutation and evolution of microsatellites in Drosophila melanogaster.

作者信息

Schug M D, Hutter C M, Noor M A, Aquadro C F

机构信息

Section of Genetics and Development, Cornell University, Ithaca, NY 14853, USA.

出版信息

Genetica. 1998;102-103(1-6):359-67.

PMID:9720288
Abstract

Levels of nucleotide polymorphism in the Drosophila melanogaster genome are correlated with rates of recombination. This relationship may be due to hitchhiking of advantageous mutations (selective sweeps) or to continual removal of deleterious mutations from the genome (background selection). One test of the relative contributions of selective sweeps and background selection to the observed levels of variation in the genome of D. melanogaster is to compare levels of nucleotide variability (with a mutation rate on the order of 10(-9) per nucleotide per generation) with more rapidly evolving DNA loci such as microsatellites. This test depends critically on details of the mutational process of microsatellites. In this paper, we summarize our studies of microsatellite characteristics and mutation rates in D. melanogaster. We find that D. melanogaster microsatellites are short and have a mutation rate (6.5 x 10(-6) per locus per generation) several orders of magnitude lower than mammals studied to date. We further show that genetic variation at 18 dinucleotide repeat microsatellites in a population of D. melanogaster from Maryland is correlated with regional rates of recombination. These and other microsatellite data suggest that both background selection and selective sweeps may contribute to the correlation between DNA sequence variation and recombination in Drosophila.

摘要

黑腹果蝇基因组中的核苷酸多态性水平与重组率相关。这种关系可能是由于有利突变的搭便车效应(选择性清除),或者是由于基因组中有害突变的持续清除(背景选择)。一种检测选择性清除和背景选择对黑腹果蝇基因组中观察到的变异水平相对贡献的方法,是将核苷酸变异性水平(每代每个核苷酸的突变率约为10^(-9))与进化更快的DNA位点(如微卫星)进行比较。该检测方法严重依赖于微卫星突变过程的细节。在本文中,我们总结了对黑腹果蝇微卫星特征和突变率的研究。我们发现黑腹果蝇微卫星较短,其突变率(每个位点每代6.5×10^(-6))比迄今研究的哺乳动物低几个数量级。我们进一步表明,来自马里兰州的一群黑腹果蝇中18个二核苷酸重复微卫星的遗传变异与区域重组率相关。这些以及其他微卫星数据表明,背景选择和选择性清除可能都对果蝇DNA序列变异与重组之间的相关性有贡献。

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