Ehrenreich Ian M, Stafford Phillip A, Purugganan Michael D
Department of Genetics, North Carolina State University, Raleigh, North Carolina 27695, USA.
Genetics. 2007 Jun;176(2):1223-36. doi: 10.1534/genetics.107.071928. Epub 2007 Apr 15.
Association mapping focused on 36 genes involved in branch development was used to identify candidate genes for variation in shoot branching in Arabidopsis thaliana. The associations between four branching traits and moderate-frequency haplogroups at the studied genes were tested in a panel of 96 accessions from a restricted geographic range in Central Europe. Using a mixed-model association-mapping method, we identified three loci--MORE AXILLARY GROWTH 2 (MAX2), MORE AXILLARY GROWTH 3 (MAX3), and SUPERSHOOT 1 (SPS1)--that were significantly associated with branching variation. On the basis of a more extensive examination of the MAX2 and MAX3 genomic regions, we find that linkage disequilibrium in these regions decays within approximately 10 kb and trait associations localize to the candidate genes in these regions. When the significant associations are compared to relevant quantitative trait loci (QTL) from previous Ler x Col and Cvi x Ler recombinant inbred line (RIL) mapping studies, no additive QTL overlapping these candidate genes are observed, although epistatic QTL for branching, including one that spans the SPS1, are found. These results suggest that epistasis is prevalent in determining branching variation in A. thaliana and may need to be considered in linkage disequilibrium mapping studies of genetically diverse accessions.
我们利用关联分析聚焦于36个参与分支发育的基因,以鉴定拟南芥中茎分支变异的候选基因。在一组来自中欧有限地理范围的96份材料中,检测了4个分支性状与所研究基因的中等频率单倍型组之间的关联。使用混合模型关联分析方法,我们鉴定出3个位点——多腋生生长2(MAX2)、多腋生生长3(MAX3)和超枝1(SPS1)——它们与分支变异显著相关。基于对MAX2和MAX3基因组区域更广泛的研究,我们发现这些区域的连锁不平衡在大约10 kb范围内衰减,且性状关联定位于这些区域的候选基因。当将这些显著关联与先前Ler×Col和Cvi×Ler重组自交系(RIL)作图研究中的相关数量性状位点(QTL)进行比较时,未观察到与这些候选基因重叠的加性QTL,尽管发现了包括一个跨越SPS1的分支上位性QTL。这些结果表明上位性在决定拟南芥分支变异中普遍存在,在对遗传多样性材料的连锁不平衡作图研究中可能需要予以考虑。