Duret Laurent, Arndt Peter F
Laboratoire de Biométrie et Biologie Evolutive, Université de Lyon, Université Lyon 1, CNRS, UMR 5558, Villeurbanne, France.
PLoS Genet. 2008 May 9;4(5):e1000071. doi: 10.1371/journal.pgen.1000071.
Unraveling the evolutionary forces responsible for variations of neutral substitution patterns among taxa or along genomes is a major issue for detecting selection within sequences. Mammalian genomes show large-scale regional variations of GC-content (the isochores), but the substitution processes at the origin of this structure are poorly understood. We analyzed the pattern of neutral substitutions in 1 Gb of primate non-coding regions. We show that the GC-content toward which sequences are evolving is strongly negatively correlated to the distance to telomeres and positively correlated to the rate of crossovers (R2 = 47%). This demonstrates that recombination has a major impact on substitution patterns in human, driving the evolution of GC-content. The evolution of GC-content correlates much more strongly with male than with female crossover rate, which rules out selectionist models for the evolution of isochores. This effect of recombination is most probably a consequence of the neutral process of biased gene conversion (BGC) occurring within recombination hotspots. We show that the predictions of this model fit very well with the observed substitution patterns in the human genome. This model notably explains the positive correlation between substitution rate and recombination rate. Theoretical calculations indicate that variations in population size or density in recombination hotspots can have a very strong impact on the evolution of base composition. Furthermore, recombination hotspots can create strong substitution hotspots. This molecular drive affects both coding and non-coding regions. We therefore conclude that along with mutation, selection and drift, BGC is one of the major factors driving genome evolution. Our results also shed light on variations in the rate of crossover relative to non-crossover events, along chromosomes and according to sex, and also on the conservation of hotspot density between human and chimp.
解析导致不同分类群之间或沿基因组的中性替代模式变化的进化力量,是在序列中检测选择的一个主要问题。哺乳动物基因组显示出GC含量(等密度区)的大规模区域变化,但对这种结构起源的替代过程了解甚少。我们分析了1Gb灵长类非编码区的中性替代模式。我们发现,序列进化所趋向的GC含量与到端粒的距离呈强烈负相关,与交叉率呈正相关(R2 = 47%)。这表明重组对人类的替代模式有重大影响,推动了GC含量的进化。GC含量的进化与雄性交叉率的相关性比与雌性交叉率的相关性更强,这排除了等密度区进化的选择主义模型。重组的这种效应很可能是重组热点内发生的偏向基因转换(BGC)中性过程的结果。我们表明,该模型的预测与人类基因组中观察到的替代模式非常吻合。该模型特别解释了替代率与重组率之间的正相关。理论计算表明,重组热点中种群大小或密度的变化对碱基组成的进化可能有非常强烈的影响。此外,重组热点可以产生强烈的替代热点。这种分子驱动力影响编码区和非编码区。因此,我们得出结论,与突变、选择和漂变一起,BGC是推动基因组进化的主要因素之一。我们的结果还揭示了沿染色体以及根据性别,交叉事件相对于非交叉事件的发生率变化,以及人类和黑猩猩之间热点密度的保守性。