Lenz Carolyn, Haerty Wilfried, Golding G Brian
Department of Biology, McMaster University, Hamilton, Ontario, Canada.
Genome Biol Evol. 2014 Mar;6(3):655-65. doi: 10.1093/gbe/evu042.
Previous studies have found that DNA-flanking low-complexity regions (LCRs) have an increased substitution rate. Here, the substitution rate was confirmed to increase in the vicinity of LCRs in several primate species, including humans. This effect was also found among human sequences from the 1000 Genomes Project. A strong correlation was found between average substitution rate per site and distance from the LCR, as well as the proportion of genes with gaps in the alignment at each site and distance from the LCR. Along with substitution rates, dN/dS ratios were also determined for each site, and the proportion of sites undergoing negative selection was found to have a negative relationship with distance from the LCR.
先前的研究发现,DNA侧翼的低复杂性区域(LCRs)具有更高的替换率。在此,在包括人类在内的几种灵长类物种中,证实了LCRs附近的替换率会升高。在“千人基因组计划”的人类序列中也发现了这种效应。发现每个位点的平均替换率与到LCR的距离之间,以及每个位点比对中存在缺口的基因比例与到LCR的距离之间存在很强的相关性。除了替换率,还确定了每个位点的dN/dS比率,并且发现经历负选择的位点比例与到LCR的距离呈负相关。