Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, Massachusetts 02138, USA.
Genetics. 2012 Apr;190(4):1433-45. doi: 10.1534/genetics.111.135574. Epub 2012 Jan 10.
We address a conceptual flaw in the backward-time approach to population genetics called coalescent theory as it is applied to diploid biparental organisms. Specifically, the way random models of reproduction are used in coalescent theory is not justified. Instead, the population pedigree for diploid organisms--that is, the set of all family relationships among members of the population--although unknown, should be treated as a fixed parameter, not as a random quantity. Gene genealogical models should describe the outcome of the percolation of genetic lineages through the population pedigree according to Mendelian inheritance. Using simulated pedigrees, some of which are based on family data from 19th century Sweden, we show that in many cases the (conceptually wrong) standard coalescent model is difficult to reject statistically and in this sense may provide a surprisingly accurate description of gene genealogies on a fixed pedigree. We study the differences between the fixed-pedigree coalescent and the standard coalescent by analysis and simulations. Differences are apparent in recent past, within ≈ <log(2)(N) generations, but then disappear as genetic lineages are traced into the more distant past.
我们提出了一种在应用于二倍体双亲生物的反向时间方法——合并理论中存在的概念性缺陷。具体来说,合并理论中使用的随机繁殖模型的方法是不合理的。相反,尽管未知,二倍体生物的群体系谱——即群体成员之间的所有家族关系集合——应该被视为固定参数,而不是随机变量。基因谱系模型应该根据孟德尔遗传描述遗传谱系通过群体系谱的渗透结果。使用模拟系谱,其中一些基于 19 世纪瑞典的家族数据,我们表明在许多情况下,(概念上错误的)标准合并模型在统计学上很难被拒绝,并且从这个意义上说,它可能会对固定系谱上的基因谱系提供惊人准确的描述。我们通过分析和模拟研究了固定系谱合并和标准合并之间的差异。在最近的过去,差异是明显的,在 ≈ <log(2)(N) 代内,但随着遗传谱系追溯到更远的过去,差异就消失了。