Pigmentation genetics in dogs

在发现影响许多哺乳动物物种的可见特征、疾病甚至行为的突变方面，已经取得了巨大进展。在大多数情况下，基因通常是单独研究的，最终确定的突变以某种可测量的方式改变了一个特征。然而，我们都意识到大多数特征都受到许多基因的影响，尤其是复杂的特征，如健康、行为，甚至是毛色。试图了解基因如何相互作用共同影响一个性状是这项资助的重点。我们选择研究与狗的毛色和图案有关的基因。许多私人拥有的狗，因此他们的主人，将参与这项研究。我们的研究结果将发表在科学期刊上，也将发表在我们的网站（http://homepage.usask.ca/~schmutz/dogcolors.html）、狗类杂志和品种通讯上。我们希望能够开始理解多个基因，每个基因的突变如何导致表型，或者在这种情况下的毛色，这与只有一个基因发生突变是不同的。例如，狗的山鸟色图案是由SILV基因的SINE插入型突变引起的，被认为是一种显性特征。然而，在MC1R位点存在e/e基因型时，导致红色被毛，山鸟色模式不表达。在一些品种中，如腊肠，主人可能无意中把一只红狗培育成山鸟色狗，结果可能是纯合子的山鸟色狗。这些幼崽通常是失聪的，有时也会失明。在我们的研究过程中，我们将试图了解这些突变是如何相互作用产生这些毛色的，以及它们对狗的影响。然而，我们也将试图了解它们如何以及为什么在基因功能的层面上相互作用。

Tremendous advances have been made in finding mutations that affect visible traits, diseases and even behaviors in many mammalian species. For the most part, genes are typically studied in isolation and a mutation is ultimately identified which alters a trait in some measurable way. However, we all realize that most traits are affected by many genes, especially complex traits such as health, behavior, and even coat color. Trying to understand how genes interact to jointly affect a trait is the focus of this grant. We have chosen to study genes involved in coat color and pattern in dogs. Many privately owned dogs, and therefore their owners, will be involved in this research. Our results will be published in the scientific journals but also on our website (http://homepage.usask.ca/~schmutz/dogcolors.html) and in dog magazines and breed newsletters. We hope to be able to begin to understand how multiple genes, each with a mutation will cause a phenotype, or coat color in this case, that is different than if only one of the genes has a mutation. For example, the merle pattern in dogs is caused by a SINE insertion type of mutation in the gene SILV and is considered a dominant trait. However, in the presence of an e/e genotype at the MC1R locus which causes red coat color, the merle pattern is not expressed. In some breeds such as Dachshunds, an owner can inadvertently breed a red dog to a merle dog and pups that are homozygous merle could result. Such pups are typically deaf and sometimes also blind. During the course of our research we will try to understand how these mutations interact in producing these coat colors and their effects on the dog. However we will also try to understand how and why they interact, at the level of the function of the genes.