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首页> 外文会议>Intelligent Systems for Molecular Biology >Genotype-phenotype associations: substitution models to detect evolutionary associations between phenotypic variables and genotypic evolutionary rate
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Genotype-phenotype associations: substitution models to detect evolutionary associations between phenotypic variables and genotypic evolutionary rate

机译：基因型 - 表型关联：替代模型以检测表型变量与基因型进化率之间的进化关联

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Motivation: Mapping between genotype and phenotype is one of the primary goals of evolutionary genetics but one that hie received little attention at the interspecies level. Recent' developments in phylogenetics and statistical modelling have typically been used to examine molecular and phenotypic evolution separately. We have used this background to develop phylogenetic substitution models to test for associations between evolutionary rate of genotype and phenotype. We do this by creating hybrid rate matrices between genotype and phenotype. Results: Simulation results show our models to be accurate in detecting genotype-phenotype associations and robust for various factors that typically affect maximum likelihood methods, such as number of taxa, level of relevant signal, proportion of sites affected and length of evolutionary divergence. Further, simulations show that our method is robust to homogeneity assumptions. We apply the models to datasets of malt reproductive system genes in relation to mating systems of primates. We show that evolution of semenogelin II is significantly associated with mating systems whereas two negative control genes (cytochrome b and peptidase inhibitor 3)show no significant association. This provides the first hybrid substitution model of which we are aware to directly test the association between genotype and phenotype using a phylogenetic framework.
机译：动机：基因型和表现型之间的映射是进化遗传学的主要目标之一，但一个HIE很少受到关注的物种间的水平。在系统发育和统计建模近期进行的”发展通常被用来单独检查分子和表型进化。我们已经用这种背景下制定系统发育替代模型，以测试基因型和表现型的进化速率之间的关联。我们通过建立基因型和表现型之间的混合率矩阵做到这一点。结果：仿真结果表明我们的模型是在检测基因型 - 表型协会的准确性和稳定性，而通常影响最大似然法，如类群的数量，相关信号的电平，受影响的网站和进化分歧的长度比例的各种因素。此外，仿真结果表明，我们的方法是稳健的同质性假设。我们应用模型的麦芽生殖系统的基因数据集相对于灵长类动物的交配系统。我们显示的semenogelin II是显著与交配系统而两个负对照基因（细胞色素B和肽酶抑制剂3）相关联的演进显示没有显著关联。这提供了第一混合替代模式，其中我们知道直接测试使用的系统发育框架基因型和表型之间的关联。

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