Schug M D, Hutter C M, Wetterstrand K A, Gaudette M S, Mackay T F, Aquadro C F
Section of Genetics and Development, Cornell University, Ithaca, New York 14853, USA.
Mol Biol Evol. 1998 Dec;15(12):1751-60. doi: 10.1093/oxfordjournals.molbev.a025901.
In a recent study, we reported that the combined average mutation rate of 10 di-, 6 tri-, and 8 tetranucleotide repeats in Drosophila melanogaster was 6.3 x 10(-6) mutations per locus per generation, a rate substantially below that of microsatellite repeat units in mammals studied to date (range = 10(-2)-10(-5) per locus per generation). To obtain a more precise estimate of mutation rate for dinucleotide repeat motifs alone, we assayed 39 new dinucleotide repeat microsatellite loci in the mutation accumulation lines from our earlier study. Our estimate of mutation rate for a total of 49 dinucleotide repeats is 9.3 x 10(-6) per locus per generation, only slightly higher than the estimate from our earlier study. We also estimated the relative difference in microsatellite mutation rate among di-, tri-, and tetranucleotide repeats in the genome of D. melanogaster using a method based on population variation, and we found that tri- and tetranucleotide repeats mutate at rates 6.4 and 8.4 times slower than that of dinucleotide repeats, respectively. The slower mutation rates of tri- and tetranucleotide repeats appear to be associated with a relatively short repeat unit length of these repeat motifs in the genome of D. melanogaster. A positive correlation between repeat unit length and allelic variation suggests that mutation rate increases as the repeat unit lengths of microsatellites increase.
在最近的一项研究中,我们报告称,果蝇中10个二核苷酸、6个三核苷酸和8个四核苷酸重复序列的综合平均突变率为每代每个位点6.3×10⁻⁶个突变,该速率显著低于迄今为止所研究的哺乳动物微卫星重复单元的突变率(范围为每代每个位点10⁻² - 10⁻⁵)。为了单独获得二核苷酸重复基序突变率的更精确估计,我们在我们早期研究的突变积累系中检测了39个新的二核苷酸重复微卫星位点。我们对总共49个二核苷酸重复序列的突变率估计为每代每个位点9.3×10⁻⁶,仅略高于我们早期研究的估计值。我们还使用基于群体变异的方法估计了果蝇基因组中二核苷酸、三核苷酸和四核苷酸重复序列之间微卫星突变率的相对差异,我们发现三核苷酸和四核苷酸重复序列的突变率分别比二核苷酸重复序列慢6.4倍和8.4倍。三核苷酸和四核苷酸重复序列较慢的突变率似乎与果蝇基因组中这些重复基序相对较短的重复单元长度有关。重复单元长度与等位基因变异之间的正相关表明,随着微卫星重复单元长度的增加,突变率也会增加。