Laboratory for Conservation and Utilization of Bioresources, Yunnan University, Kunming 650091, China.
Proc Natl Acad Sci U S A. 2011 Sep 20;108(38):15914-9. doi: 10.1073/pnas.1100233108. Epub 2011 Sep 2.
Each cell of higher organism adults is derived from a fertilized egg through a series of divisions, during which mutations can occur. Both the rate and timing of mutations can have profound impacts on both the individual and the population, because mutations that occur at early cell divisions will affect more tissues and are more likely to be transferred to the next generation. Using large-scale multigeneration screening experiments for recessive lethal or nearly lethal mutations of Drosophila melanogaster and recently developed statistical analysis, we show for male D. melanogaster that (i) mutation rates (for recessive lethal or nearly lethal) are highly variable during germ cell development; (ii) first cell cleavage has the highest mutation rate, which drops substantially in the second cleavage or the next few cleavages; (iii) the intermediate stages, after a few cleavages to right before spermatogenesis, have at least an order of magnitude smaller mutation rate; and (iv) spermatogenesis also harbors a fairly high mutation rate. Because germ-line lineage shares some (early) cell divisions with somatic cell lineage, the first conclusion is readily extended to a somatic cell lineage. It is conceivable that the first conclusion is true for most (if not all) higher organisms, whereas the other three conclusions are widely applicable, although the extent may differ from species to species. Therefore, conclusions or analyses that are based on equal mutation rates during development should be taken with caution. Furthermore, the statistical approach developed can be adopted for studying other organisms, including the human germ-line or somatic mutational patterns.
高等生物的每个成体细胞都来自受精卵通过一系列分裂而来,在此过程中可能会发生突变。突变的速度和时间都可能对个体和种群产生深远的影响,因为在早期细胞分裂中发生的突变会影响更多的组织,并且更有可能传递给下一代。我们使用大规模的多代筛选实验来检测果蝇的隐性致死或近致死突变,以及最近开发的统计分析方法,结果表明,对于雄性果蝇,(i)在生殖细胞发育过程中,突变率(隐性致死或近致死)高度可变;(ii)第一次细胞分裂的突变率最高,在第二次分裂或接下来的几次分裂中会大幅下降;(iii)在几次分裂后到精子发生之前的中间阶段,突变率至少小一个数量级;(iv)精子发生也具有相当高的突变率。由于生殖系与体细胞系共享一些(早期)细胞分裂,因此第一个结论很容易扩展到体细胞系。可以想象,对于大多数(如果不是全部)高等生物来说,第一个结论是正确的,而其他三个结论则具有广泛的适用性,尽管程度可能因物种而异。因此,基于发育过程中相等突变率的结论或分析应该谨慎对待。此外,所开发的统计方法可以用于研究其他生物体,包括人类的生殖系或体细胞突变模式。