Boulton A, Myers R S, Redfield R J
Department of Zoology, Canadian Institute for Advanced Research, University of British Columbia, Vancouver, British Columbia, Canada, V6T 1Z4.
Proc Natl Acad Sci U S A. 1997 Jul 22;94(15):8058-63. doi: 10.1073/pnas.94.15.8058.
Studies of meiotic recombination have revealed an evolutionary paradox. Molecular and genetic analysis has shown that crossing over initiates at specific sites called hotspots, by a recombinational-repair mechanism in which the initiating hotspot is replaced by a copy of its homolog. We have used computer simulations of large populations to show that this mechanism causes active hotspot alleles to be rapidly replaced by inactive alleles, which arise by rare mutation and increase by recombination-associated conversion. Additional simulations solidified the paradox by showing that the known benefits of recombination appear inadequate to maintain its mechanism. Neither the benefits of accurate segregation nor those of recombining flanking genes were sufficient to preserve active alleles in the face of conversion. A partial resolution to this paradox was obtained by introducing into the model an additional, nonmeiotic function for the sites that initiate recombination, consistent with the observed association of hotspots with functional sites in chromatin. Provided selection for this function was sufficiently strong, active hotspots were able to persist in spite of frequent conversion to inactive alleles. However, this explanation is unsatisfactory for two reasons. First, it is unlikely to apply to obligately sexual species, because observed crossover frequencies imply maintenance of many hotspots per genome, and the viability selection needed to preserve these would drive the species to extinction. Second, it fails to explain why such a genetically costly mechanism of recombination has been maintained over evolutionary time. Thus the paradox persists and is likely to be resolved only by significant changes to the commonly accepted mechanism of crossing over.
减数分裂重组的研究揭示了一个进化悖论。分子和遗传分析表明,交叉互换在称为热点的特定位点启动,通过一种重组修复机制,其中起始热点被其同源物的一个拷贝所取代。我们利用大群体的计算机模拟表明,这种机制会导致活跃的热点等位基因迅速被不活跃的等位基因所取代,这些不活跃的等位基因通过罕见突变产生,并通过与重组相关的转换而增加。额外的模拟强化了这个悖论,因为结果显示已知的重组益处似乎不足以维持其机制。面对转换,准确分离的益处和侧翼基因重组的益处都不足以保留活跃等位基因。通过在模型中引入启动重组的位点的另一种非减数分裂功能,获得了对这个悖论的部分解决方案,这与观察到的热点与染色质功能位点的关联一致。假设对这种功能的选择足够强烈,尽管频繁转换为不活跃等位基因,活跃热点仍能够持续存在。然而,这种解释由于两个原因并不令人满意。首先,它不太可能适用于专性有性物种,因为观察到的交叉互换频率意味着每个基因组要维持许多热点,而保留这些热点所需的生存力选择会导致物种灭绝。其次,它无法解释为什么这样一种在遗传上代价高昂的重组机制在进化过程中一直得以维持。因此,这个悖论仍然存在,并且可能只有通过对普遍接受的交叉互换机制进行重大改变才能得到解决。