Anderson R J, Spencer H G
Department of Zoology, University of Otago, Dunedin, New Zealand.
Genetics. 1999 Dec;153(4):1949-58. doi: 10.1093/genetics/153.4.1949.
Many single-locus, two-allele selection models of genomic imprinting have been shown to reduce formally to one-locus Mendelian models with a modified parameter for genetic dominance. One exception is the model where selection at the imprinted locus affects the sexes differently. We present two models of maternal inactivation with differential viability in the sexes, one with complete inactivation, and the other with a partial penetrance for inactivation. We show that, provided dominance relations at the imprintable locus are the same in both sexes, a globally stable polymorphism exists for a range of viabilities that is independent of the penetrance of imprinting. The conditions for a polymorphism are the same as in previous models with differential viability in the sexes but without imprinting and in a model of the paternal X-inactivation system in marsupials. The model with incomplete inactivation is used to illustrate the analogy between imprinting and dominance by comparing equilibrium bifurcation plots for fixed values of dominance and penetrance. We also derive a single expression for the dominance parameter that leaves the frequency and stability of equilibria unchanged for all levels of inactivation. Although an imprinting model with sex differences does not formally reduce to a nonimprinting scheme, close theoretical parallels clearly exist.
许多基因组印记的单基因座、双等位基因选择模型已被证明在形式上可简化为具有修正遗传显性参数的单基因座孟德尔模型。一个例外是印记基因座上的选择对不同性别的影响不同的模型。我们提出了两个在性别中具有不同生存力的母源失活模型,一个是完全失活模型,另一个是失活具有部分外显率的模型。我们表明,只要可印记基因座上的显性关系在两性中相同,对于一系列与印记外显率无关的生存力,就存在一个全局稳定的多态性。多态性的条件与先前在两性中具有不同生存力但无印记的模型以及有袋类动物父源X染色体失活系统的模型相同。通过比较固定显性值和外显率下的平衡分岔图,不完全失活模型被用于说明印记与显性之间的类比。我们还推导了一个单一的显性参数表达式,该表达式对于所有失活水平都能使平衡的频率和稳定性保持不变。尽管具有性别差异的印记模型在形式上不会简化为非印记模式,但显然存在密切的理论相似之处。