Dissecting the architecture of a quantitative trait locus in yeast
Dissecting the architecture of a quantitative trait locus in yeast
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DOI：
10.1038/416326a
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发表时间：
2002-03-21
期刊：
影响因子：
64.8
通讯作者：
Davis, RW
中科院分区：
文献类型：
--
作者：
Steinmetz, LM;Sinha, H;Davis, RW
自然群体中大多数表型多样性的特征是程度上的差异而不是种类上的差异。鉴定这些数量性状背后的实际基因已被证明是困难的（1-5）。因此，人们对它们的遗传结构知之甚少。失败被认为是由于许多潜在基因对表型的不同贡献以及基因和环境因素的不同组合产生相似表型的能力（6，7）。本研究结合全基因组定位和一种新的遗传技术互半合子分析，实现了对酿酒酵母数量性状位点（QTL）的完整解剖。发现了比预期更复杂的QTL结构。在三个紧密连锁的数量性状基因之间发现了顺式和反式的功能联系，这些联系在孤立的情况下既不必要也不充分。等位基因的这种排列解释了杂种优势，即杂合子比纯合子适应性的提高。它还表明，目前的方法QTL解剖的影响延伸到其他生物体，包括人类遗传疾病的性状的缺陷。
Most phenotypic diversity in natural populations is characterized by differences in degree rather than in kind. Identification of the actual genes underlying these quantitative traits has proved difficult(1-5). As a result, little is known about their genetic architecture. The failures are thought to be due to the different contributions of many underlying genes to the phenotype and the ability of different combinations of genes and environmental factors to produce similar phenotypes(6,7). This study combined genome-wide mapping and a new genetic technique named reciprocal-hemizygosity analysis to achieve the complete dissection of a quantitative trait locus (QTL) in Saccharomyces cerevisiae. A QTL architecture was uncovered that was more complex than expected. Functional linkages both in cis and in trans were found between three tightly linked quantitative trait genes that are neither necessary nor sufficient in isolation. This arrangement of alleles explains heterosis (hybrid vigour), the increased fitness of the heterozygote compared with homozygotes. It also demonstrates a deficiency in current approaches to QTL dissection with implications extending to traits in other organisms, including human genetic diseases.