Egan Chris M, Sridhar Srinath, Wigler Michael, Hall Ira M
Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
Nat Genet. 2007 Nov;39(11):1384-9. doi: 10.1038/ng.2007.19. Epub 2007 Oct 28.
Different species, populations and individuals vary considerably in the copy number of discrete segments of their genomes. The manner and frequency with which these genetic differences arise over generational time is not well understood. Taking advantage of divergence among lineages sharing a recent common ancestry, we have conducted a genome-wide analysis of spontaneous copy number variation (CNV) in the laboratory mouse. We used high-resolution microarrays to identify 38 CNVs among 14 colonies of the C57BL/6 strain spanning approximately 967 generations of inbreeding, and we examined these loci in 12 additional strains. It is clear from our results that many CNVs arise through a highly nonrandom process: 18 of 38 were the product of recurrent mutation, and rates of change varied roughly four orders of magnitude across different loci. Recurrent CNVs are found throughout the genome, affect 43 genes and fluctuate in copy number over mere hundreds of generations, observations that raise questions about their contribution to natural variation.
不同物种、种群和个体基因组离散片段的拷贝数存在很大差异。这些遗传差异在世代时间内产生的方式和频率尚不清楚。利用具有近期共同祖先的谱系间的差异,我们对实验室小鼠的自发拷贝数变异(CNV)进行了全基因组分析。我们使用高分辨率微阵列在C57BL/6品系的14个群体中鉴定出38个CNV,这些群体经历了约967代近亲繁殖,并且我们在另外12个品系中检测了这些位点。从我们的结果可以清楚地看出,许多CNV是通过高度非随机的过程产生的:38个中有18个是反复突变的产物,不同位点的变化率相差约四个数量级。反复出现的CNV遍布整个基因组,影响43个基因,并且在仅仅几百代的时间里拷贝数就会波动,这些观察结果引发了关于它们对自然变异贡献的疑问。
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