González-Martínez Santiago C, Wheeler Nicholas C, Ersoz Elhan, Nelson C Dana, Neale David B
Department of Plant Sciences, University of California, Davis, California 95616, USA.
Genetics. 2007 Jan;175(1):399-409. doi: 10.1534/genetics.106.061127. Epub 2006 Nov 16.
Genetic association is a powerful method for dissecting complex adaptive traits due to (i) fine-scale mapping resulting from historical recombination, (ii) wide coverage of phenotypic and genotypic variation within a single experiment, and (iii) the simultaneous discovery of loci and alleles. In this article, genetic association among single nucleotide polymorphisms (58 SNPs) from 20 wood- and drought-related candidate genes and an array of wood property traits with evolutionary and commercial importance, namely, earlywood and latewood specific gravity, percentage of latewood, earlywood microfibril angle, and wood chemistry (lignin and cellulose content), was tested using mixed linear models (MLMs) that account for relatedness among individuals by using a pairwise kinship matrix. Population structure, a common systematic bias in association studies, was assessed using 22 nuclear microsatellites. Different phenotype:genotype associations were found, some of them confirming previous evidence from collocation of QTL and genes in linkage maps (for example, 4cl and percentage of latewood) and two that involve nonsynonymous polymorphisms (cad SNP M28 with earlywood specific gravity and 4cl SNP M7 with percentage of latewood). The strongest genetic association found in this study was between allelic variation in alpha-tubulin, a gene involved in the formation of cortical microtubules, and earlywood microfibril angle. Intragenic LD decays rapidly in conifers; thus SNPs showing genetic association are likely to be located in close proximity to the causative polymorphisms. This first multigene association genetic study in forest trees has shown the feasibility of candidate gene strategies for dissecting complex adaptive traits, provided that genes belonging to key pathways and appropriate statistical tools are used. This approach is of particular utility in species such as conifers, where genomewide strategies are limited by their large genomes.
遗传关联是剖析复杂适应性性状的一种强大方法,原因如下:(i)历史重组导致的精细定位;(ii)单个实验中表型和基因型变异的广泛覆盖;(iii)基因座和等位基因的同时发现。在本文中,使用混合线性模型(MLM)测试了来自20个与木材和干旱相关的候选基因的单核苷酸多态性(58个SNP)与一系列具有进化和商业重要性的木材性质性状之间的遗传关联,这些性状包括早材和晚材比重、晚材率、早材微纤丝角以及木材化学性质(木质素和纤维素含量),该模型通过使用成对亲缘关系矩阵来考虑个体间的亲缘关系。使用22个核微卫星评估了群体结构,这是关联研究中常见的系统偏差。发现了不同的表型与基因型关联,其中一些证实了先前在连锁图谱中QTL与基因共定位的证据(例如,4cl与晚材率),还有两个涉及非同义多态性(与早材比重相关的cad SNP M28和与晚材率相关的4cl SNP M7)。本研究中发现的最强遗传关联是在参与皮层微管形成的α - 微管蛋白的等位基因变异与早材微纤丝角之间。在针叶树中,基因内连锁不平衡迅速衰减;因此,显示遗传关联的SNP可能位于与致病多态性紧密相邻的位置。这项在林木中的首次多基因关联遗传研究表明,只要使用属于关键途径的基因和适当的统计工具,候选基因策略用于剖析复杂适应性性状是可行的。这种方法在针叶树等物种中特别有用,因为全基因组策略受其大基因组的限制。