Spencer H G
Department of Zoology, University of Otago, Dunedin, New Zealand.
Genetics. 1997 Sep;147(1):281-7. doi: 10.1093/genetics/147.1.281.
I model the effect of genomic imprinting on the equilibrium allele frequencies at an autosomal diallelic locus subject to viability selection and mutation. The population size is assumed to be very large; male and female mutation rates may be unequal. Different models examine cases of the inactivation of one gene (with both complete and partial penetrance) and of differential expression of genes according to the parent of origin. In the simplest cases the frequency of the deleterious allele is approximately twice that of a dominant nonimprinting mutant, but considerably less than that of a recessive nonimprinting mutant. Under imprinting, selection and unequal mutation rates interact: other things being equal, male-biased mutation leads to lower mutant frequencies under maternal imprinting and higher frequencies under paternal imprinting. I also model cases where just one allele is imprintable (and the other not). These models allow us to predict the frequency of a failure to imprint in a normally imprinting system, as well as the frequency of imprinting at a standard nonimprinting locus.
我建立了基因组印记对常染色体双等位基因座上等位基因平衡频率的影响模型，该基因座受到生存力选择和突变的作用。假设种群规模非常大；雄性和雌性的突变率可能不相等。不同的模型研究了一个基因失活的情况（包括完全和部分外显率）以及根据基因起源亲本的基因差异表达情况。在最简单的情况下，有害等位基因的频率大约是显性非印记突变体的两倍，但远低于隐性非印记突变体的频率。在印记作用下，选择和不等的突变率相互作用：在其他条件相同的情况下，雄性偏向的突变在母本印记下会导致较低的突变频率，而在父本印记下会导致较高的频率。我还建立了只有一个等位基因可印记（另一个不可印记）的情况的模型。这些模型使我们能够预测正常印记系统中印记失败的频率，以及标准非印记基因座上的印记频率。
