O'Hely Martin
Department of Mathematics, University of Queensland, Qld. 4072, Australia.
Theor Popul Biol. 2007 Jun;71(4):491-501. doi: 10.1016/j.tpb.2007.01.003. Epub 2007 Jan 14.
Suppose one chromosome in one member of a population somehow acquires a duplicate copy of the gene, fully linked to the original gene's locus. Preservation is the event that eventually every chromosome in the population is a descendant of the one which initially carried the duplicate. For a haploid population in which the absence of all copies of the gene is lethal, the probability of preservation has recently been estimated via a diffusion approximation. That approximation is shown to carry over to the case of diploids and arbitrary strong selection against the absence of the gene. The techniques used lead to some new results. In the large population limit, it is shown that the relative probability that descendants of a small number of individuals carrying multiple copies of the gene fix in the population is proportional to the number of copies carried. The probability of preservation is approximated when chromosomes carrying two copies of the gene are subject to additional, fully non-functionalizing mutations, thereby modelling either an additional cost of replicating a longer genome, or a partial duplication of the gene. In the latter case the preservation probability depends only on the mutation rate to null for the duplicated portion of the gene.
假设种群中某个个体的一条染色体以某种方式获得了该基因的一个重复拷贝,且与原始基因座完全连锁。留存是指最终种群中的每一条染色体都是最初携带该重复拷贝的那条染色体的后代这一事件。对于单倍体种群,若基因所有拷贝的缺失是致死的,最近已通过扩散近似法估计了留存概率。该近似法被证明可推广到二倍体情况以及针对基因缺失的任意强选择情况。所使用的技术得出了一些新结果。在大种群极限情况下,结果表明携带该基因多个拷贝的少数个体的后代在种群中固定的相对概率与所携带的拷贝数成正比。当携带该基因两个拷贝的染色体发生额外的、完全使其失去功能的突变时,留存概率会被近似计算,从而模拟复制更长基因组的额外成本,或者该基因的部分重复。在后一种情况下,留存概率仅取决于基因重复部分突变为无效的突变率。