Evidence for a complex demographic history of chimpanzees
Evidence for a complex demographic history of chimpanzees
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DOI：
10.1093/molbev/msh083
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发表时间：
2004-05-01
影响因子：
10.7
通讯作者：
Przeworski, M
中科院分区：
文献类型：
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作者：
Fischer, A;Wiebe, V;Przeworski, M
为了描述中部黑猩猩（类人猿）的基因组变异模式，并深入了解它们的进化过程，我们对14个个体的9个不相连的基因间区域进行了测序，共代表19,000个碱基对。当这些DNA序列与先前在人类和西部黑猩猩（Pan troglodytes verus）中收集的同源序列进行比较时，中部黑猩猩的核苷酸多样性高于西部黑猩猩或人类。与中心黑猩猩更大的有效种群规模相一致，连锁不平衡的水平低于人类。连锁不平衡的模式进一步表明，同源基因转换可能是短距离遗传交换的重要贡献者，这与先前对人类相同DNA序列的研究一致。在中部黑猩猩中，而不是西部黑猩猩中，等位基因频谱明显向稀有等位基因倾斜，这表明种群规模的变化或精细的种群结构。引人注目的是，西部和中部黑猩猩之间的基因分化程度比人类种群之间的差异要大得多。这表明，在黑猩猩遗传变异研究中，应注意地理采样。
To characterize patterns of genomic variation in central chimpanzees (Pan troglodytes troglodytes) and gain insight into their evolution, we sequenced nine unlinked, intergenic regions, representing a total of 19,000 base pairs, in 14 individuals. When these DNA sequences are compared with homologous sequences previously collected in humans and in western chimpanzees (Pan troglodytes verus), nucleotide diversity is higher in central chimpanzees than in western chimpanzees or in humans. Consistent with a larger effective population size of central chimpanzees, levels of linkage disequilibrium are lower than in humans. Patterns of linkage disequilibrium further suggest that homologous gene conversion may be an important contributor to genetic exchange at short distances, in agreement with a previous study of the same DNA sequences in humans. In central chimpanzees, but not in western chimpanzees, the allele frequency spectrum is significantly skewed towards rare alleles, pointing to population size changes or fine-scale population structure. Strikingly, the extent of genetic differentiation between western and central chimpanzees is much stronger than what is seen between human populations. This suggests that careful attention should be paid to geographic sampling in studies of chimpanzee genetic variation.