Birdsell John A
Department of Ecology and Evolutionary Biology, University of Arizona, Tucson, Arizona 85121, USA.
Mol Biol Evol. 2002 Jul;19(7):1181-97. doi: 10.1093/oxfordjournals.molbev.a004176.
This study presents compelling evidence that recombination significantly increases the silent GC content of a genome in a selectively neutral manner, resulting in a highly significant positive correlation between recombination and "GC3s" in the yeast Saccharomyces cerevisiae. Neither selection nor mutation can explain this relationship. A highly significant GC-biased mismatch repair system is documented for the first time in any member of the Kingdom Fungi. Much of the variation in the GC3s within yeast appears to result from GC-biased gene conversion. Evidence suggests that GC-biased mismatch repair exists in numerous organisms spanning six kingdoms. This transkingdom GC mismatch repair bias may have evolved in response to a ubiquitous AT mutational bias. A significant positive correlation between recombination and GC content is found in many of these same organisms, suggesting that the processes influencing the evolution of the yeast genome may be a general phenomenon. Nonrecombining regions of the genome and nonrecombining genomes would not be subject to this type of molecular drive. It is suggested that the low GC content characteristic of many nonrecombining genomes may be the result of three processes (1) a prevailing AT mutational bias, (2) random fixation of the most common types of mutation, and (3) the absence of the GC-biased gene conversion which, in recombining organisms, permits the reversal of the most common types of mutation. A model is proposed to explain the observation that introns, intergenic regions, and pseudogenes typically have lower GC content than the silent sites of corresponding open reading frames. This model is based on the observation that the greater the heterology between two sequences, the less likely it is that recombination will occur between them. According to this "Constraint" hypothesis, the formation and propagation of heteroduplex DNA is expected to occur, on average, more frequently within conserved coding and regulatory regions of the genome. In organisms possessing GC-biased mismatch repair, this would enhance the GC content of these regions through biased gene conversion. These findings have a number of important implications for the way we view genome evolution and suggest a new model for the evolution of sex.
本研究提供了令人信服的证据,表明重组以一种选择性中性的方式显著增加了基因组的沉默GC含量,从而在酿酒酵母中导致重组与“GC3s”之间存在高度显著的正相关。选择和突变都无法解释这种关系。首次在真菌界的任何成员中记录到了高度显著的GC偏向错配修复系统。酵母中GC3s的许多变异似乎源于GC偏向的基因转换。有证据表明,GC偏向错配修复存在于跨越六个界的众多生物体中。这种跨界的GC错配修复偏向可能是为响应普遍存在的AT突变偏向而进化而来的。在许多这些相同的生物体中都发现重组与GC含量之间存在显著的正相关,这表明影响酵母基因组进化的过程可能是一种普遍现象。基因组的非重组区域和非重组基因组不会受到这种类型的分子驱动。有人提出,许多非重组基因组的低GC含量特征可能是三个过程的结果:(1)普遍存在的AT突变偏向;(2)最常见类型突变的随机固定;(3)缺乏GC偏向的基因转换,而在重组生物体中,这种基因转换允许逆转最常见类型的突变。提出了一个模型来解释内含子、基因间区域和假基因通常比相应开放阅读框的沉默位点具有更低GC含量这一观察结果。该模型基于这样的观察,即两个序列之间的异源性越大,它们之间发生重组的可能性就越小。根据这个“约束”假说,预计异源双链DNA的形成和传播平均在基因组的保守编码和调控区域内更频繁地发生。在具有GC偏向错配修复的生物体中,这将通过偏向基因转换提高这些区域的GC含量。这些发现对我们看待基因组进化的方式有许多重要意义,并提出了一种新的性别进化模型。