McGrath Casey L, Casola Claudio, Hahn Matthew W
School of Informatics, Indiana University, Bloomington, IN 47405, USA.
Genetics. 2009 Jun;182(2):615-22. doi: 10.1534/genetics.109.101428. Epub 2009 Mar 23.
Gene conversion between duplicated genes has been implicated in homogenization of gene families and reassortment of variation among paralogs. If conversion is common, this process could lead to errors in gene tree inference and subsequent overestimation of rates of gene duplication. After performing simulations to assess our power to detect gene conversion events, we determined rates of conversion among young, lineage-specific gene duplicates in four mammal species: human, rhesus macaque, mouse, and rat. Gene conversion rates (number of conversion events/number of gene pairs) among young duplicates range from 8.3% in macaque to 18.96% in rat, including a 5% false-positive rate. For all lineages, only 1-3% of the total amount of sequence examined was converted. There is no increase in GC content in conversion tracts compared to flanking regions of the same genes nor in conversion tracts compared to the same region in nonconverted gene-family members, suggesting that ectopic gene conversion does not significantly alter nucleotide composition in these duplicates. While the majority of gene duplicate pairs reside on different chromosomes in mammalian genomes, the majority of gene conversion events occur between duplicates on the same chromosome, even after controlling for divergence between duplicates. Among intrachromosomal duplicates, however, there is no correlation between the probability of conversion and physical distance between duplicates after controlling for divergence. Finally, we use a novel method to show that at most 5-10% of all gene trees involving young duplicates are likely to be incorrect due to gene conversion. We conclude that gene conversion has had only a small effect on mammalian genomes and gene duplicate evolution in general.
重复基因之间的基因转换与基因家族的同质化以及旁系同源基因间变异的重新组合有关。如果基因转换很常见,那么这个过程可能会导致基因树推断出现错误,并随后高估基因重复率。在进行模拟以评估我们检测基因转换事件的能力之后,我们确定了四种哺乳动物(人类、恒河猴、小鼠和大鼠)中年轻的、谱系特异性基因重复序列之间的转换率。年轻重复序列之间的基因转换率(转换事件数/基因对数)从猕猴的8.3%到大鼠的18.96%不等,其中假阳性率为5%。对于所有谱系,所检测序列总量中只有1 - 3%发生了转换。与相同基因的侧翼区域相比,转换片段中的GC含量没有增加,与未转换的基因家族成员的相同区域相比,转换片段中的GC含量也没有增加,这表明异位基因转换不会显著改变这些重复序列中的核苷酸组成。虽然大多数基因重复对存在于哺乳动物基因组的不同染色体上,但即使在控制了重复序列之间的差异之后,大多数基因转换事件仍发生在同一条染色体上的重复序列之间。然而,在控制了差异之后,在染色体内部的重复序列中,转换概率与重复序列之间的物理距离没有相关性。最后,我们使用一种新方法表明,由于基因转换,所有涉及年轻重复序列的基因树中,最多有5 - 10%可能是不正确的。我们得出结论,基因转换对哺乳动物基因组和一般的基因重复进化只产生了很小的影响。