Department of Evolutionary Genetics, Max-Planck Institute for Evolutionary Biology, Plön, Germany.
Laboratoire de Biométrie et Biologie Evolutive, UMR5558, CNRS, University Lyon 1, Campus de la Doua, Villeurbanne, France.
Elife. 2017 Nov 1;6:e29510. doi: 10.7554/eLife.29510.
Numerous loci of large effect have been shown to underlie phenotypic variation between species. However, loci with subtle effects are presumably more frequently involved in microevolutionary processes but have rarely been discovered. We explore the genetic basis of shape variation in the first upper molar of hybrid mice between and . We performed the first genome-wide association study for molar shape and used 3D surface morphometrics to quantify subtle variation between individuals. We show that many loci of small effect underlie phenotypic variation, and identify five genomic regions associated with tooth shape; one region contained the gene microphthalmia-associated transcription factor that has previously been associated with tooth malformations. Using a panel of five mutant laboratory strains, we show the effect of the gene on tooth shape. This is the first report of a gene causing subtle but consistent variation in tooth shape resembling variation in nature.
大量研究表明，许多大效应基因座是物种间表型变异的基础。然而，具有微妙效应的基因座可能更频繁地参与微进化过程，但很少被发现。我们探索了 和 杂交鼠第一上臼齿形状变异的遗传基础。我们进行了第一次针对臼齿形状的全基因组关联研究，并使用 3D 表面形态计量学来量化个体之间的细微差异。我们表明，许多小效应基因座是表型变异的基础，并鉴定出与牙齿形状相关的五个基因组区域；其中一个区域包含先前与牙齿畸形相关的基因小眼相关转录因子 。使用五个突变实验室品系的面板，我们展示了 基因对牙齿形状的影响。这是第一个报道基因导致牙齿形状出现细微但一致的变异的报告，这种变异类似于自然界中的变异。
