Department of Biology, University of New Mexico, NM, USA.
Mol Biol Evol. 2010 Jul;27(7):1561-9. doi: 10.1093/molbev/msq039. Epub 2010 Feb 4.
Gene conversion, a form of concerted evolution, bears enormous potential to shape the trajectory of sequence and functional divergence of gene paralogs subsequent to duplication events. fog-2, a sex-determination gene unique to Caenorhabditis elegans and implicated in the origin of hermaphroditism in this species, resulted from the duplication of ftr-1, an upstream gene of unknown function. Synonymous sequence divergence in regions of fog-2 and ftr-1 (excluding recent gene conversion tracts) suggests that the duplication occurred 46 million generations ago. Gene conversion between fog-2 and ftr-1 was previously discovered in experimental fog-2 knockout lines of C. elegans, whereby hermaphroditism was restored in mutant obligately outcrossing male-female populations. We analyzed DNA-sequence variation in fog-2 and ftr-1 within 40 isolates of C. elegans from diverse geographic locations in order to evaluate the contribution of gene conversion to genetic variation in the two gene paralogs. The analysis shows that gene conversion contributes significantly to DNA-sequence diversity in fog-2 and ftr-1 (22% and 34%, respectively) and may have the potential to alter sexual phenotypes in natural populations. A radical amino acid change in a conserved region of the F-box domain of fog-2 was found in natural isolates of C. elegans with significantly lower fecundity. We hypothesize that the lowered fecundity is due to reduced masculinization and less sperm production and that amino acid replacement substitutions and gene conversion in fog-2 may contribute significantly to variation in the degree of inbreeding and outcrossing in natural populations.
基因转换是一种协同进化形式,在重复事件后对基因同源物的序列和功能分化轨迹具有巨大的塑造潜力。fog-2 是秀丽隐杆线虫特有的性别决定基因,与该物种雌雄同体的起源有关,它是未知功能的上游基因 ftr-1 的重复产物。fog-2 和 ftr-1 区域的同义序列分化(不包括最近的基因转换片段)表明,重复发生在 4600 万代以前。先前在秀丽隐杆线虫的 fog-2 敲除实验中发现了 fog-2 和 ftr-1 之间的基因转换,通过这种转换,在突变的强制异交雌雄同体群体中恢复了雌雄同体。我们分析了来自不同地理位置的 40 个秀丽隐杆线虫分离株中 fog-2 和 ftr-1 的 DNA 序列变异,以评估基因转换对这两个基因同源物遗传变异的贡献。分析表明,基因转换显著影响了 fog-2 和 ftr-1 的 DNA 序列多样性(分别为 22%和 34%),并且可能具有改变自然种群中性别表型的潜力。在秀丽隐杆线虫的自然分离株中,我们发现 fog-2 的 F-box 结构域保守区域的一个激进氨基酸变化与显著较低的繁殖力有关。我们假设,较低的繁殖力是由于雄性化程度降低和精子产生减少所致,并且 fog-2 中的氨基酸替换和基因转换可能对自然种群中近亲繁殖和异交的程度产生重大影响。