Santure Anna W, Spencer Hamish G
Allan Wilson Centre for Molecular Ecology and Evolution, Department of Zoology, University of Otago, Dunedin, 9001 New Zealand.
Genetics. 2006 Aug;173(4):2297-316. doi: 10.1534/genetics.105.049494. Epub 2006 Jun 4.
The expression of an imprinted gene is dependent on the sex of the parent it was inherited from, and as a result reciprocal heterozygotes may display different phenotypes. In contrast, maternal genetic terms arise when the phenotype of an offspring is influenced by the phenotype of its mother beyond the direct inheritance of alleles. Both maternal effects and imprinting may contribute to resemblance between offspring of the same mother. We demonstrate that two standard quantitative genetic models for deriving breeding values, population variances and covariances between relatives, are not equivalent when maternal genetic effects and imprinting are acting. Maternal and imprinting effects introduce both sex-dependent and generation-dependent effects that result in differences in the way additive and dominance effects are defined for the two approaches. We use a simple example to demonstrate that both imprinting and maternal genetic effects add extra terms to covariances between relatives and that model misspecification may over- or underestimate true covariances or lead to extremely variable parameter estimation. Thus, an understanding of various forms of parental effects is essential in correctly estimating quantitative genetic variance components.
印记基因的表达取决于其遗传自的亲本的性别,因此相互杂合子可能表现出不同的表型。相比之下,母体遗传效应是指后代的表型受到其母亲表型的影响,而不仅仅是等位基因的直接遗传。母体效应和印记都可能导致同一母亲的后代之间存在相似性。我们证明,当母体遗传效应和印记起作用时,两种用于推导育种值、群体方差和亲属间协方差的标准数量遗传模型并不等价。母体效应和印记效应引入了性别依赖性和世代依赖性效应,这导致了两种方法在定义加性效应和显性效应的方式上存在差异。我们用一个简单的例子来说明,印记效应和母体遗传效应都会给亲属间的协方差增加额外的项,并且模型设定错误可能会高估或低估真实的协方差,或者导致参数估计极其不稳定。因此,了解各种形式的亲本效应对于正确估计数量遗传方差分量至关重要。