Wellcome Trust Centre for Human Genetics, Oxford , UK.
Science. 2012 Apr 13;336(6078):193-8. doi: 10.1126/science.1216872. Epub 2012 Mar 15.
To study the evolution of recombination rates in apes, we developed methodology to construct a fine-scale genetic map from high-throughput sequence data from 10 Western chimpanzees, Pan troglodytes verus. Compared to the human genetic map, broad-scale recombination rates tend to be conserved, but with exceptions, particularly in regions of chromosomal rearrangements and around the site of ancestral fusion in human chromosome 2. At fine scales, chimpanzee recombination is dominated by hotspots, which show no overlap with those of humans even though rates are similarly elevated around CpG islands and decreased within genes. The hotspot-specifying protein PRDM9 shows extensive variation among Western chimpanzees, and there is little evidence that any sequence motifs are enriched in hotspots. The contrasting locations of hotspots provide a natural experiment, which demonstrates the impact of recombination on base composition.
为了研究类人猿重组率的演化,我们开发了一种方法,从 10 只西部黑猩猩(Pan troglodytes verus)的高通量测序数据中构建精细的遗传图谱。与人类遗传图谱相比,大范围的重组率往往是保守的,但也有例外,特别是在染色体重排区域和人类染色体 2 中祖先融合的位点附近。在精细尺度上,黑猩猩的重组主要由热点驱动,尽管在 CpG 岛周围和基因内的重组率相似,但热点与人类的热点没有重叠。热点指定蛋白 PRDM9 在西部黑猩猩中表现出广泛的变异,几乎没有证据表明任何序列基序在热点中富集。热点的对比位置提供了一个自然实验,证明了重组对碱基组成的影响。