Liti Gianni, Warringer Jonas, Blomberg Anders
IRCAN, CNRS UMR 6267, INSERM U998, University of Nice, 06107 Nice, France;
Department of Chemistry and Molecular Biology, University of Gothenburg, 40530 Gothenburg, Sweden.
Cold Spring Harb Protoc. 2017 Aug 1;2017(8):pdb.prot089060. doi: 10.1101/pdb.prot089060.
Natural strains isolated from the wild differ quantitatively in molecular and organismal phenotypes. Quantitative trait loci (QTL) mapping is a powerful approach for identifying sequence variants that alter gene function. In yeast, QTL mapping has been used in designed crosses to map functional polymorphisms. This approach, outlined here, is often the first step in understanding the molecular basis of quantitative traits. New large-scale sequencing surveys have the potential to directly associate genotypes with organismal phenotypes, providing a broader catalog of causative genetic variants. Additional analysis of intermediate phenotypes (e.g., RNA, protein, or metabolite levels) can produce a multilayered and integrated view of individual variation, producing a high-resolution view of the genotype-phenotype map.
从自然界分离出的天然菌株在分子和生物体表型上存在数量差异。数量性状基因座（QTL）定位是识别改变基因功能的序列变异的有力方法。在酵母中，QTL定位已用于设计杂交实验来定位功能多态性。本文概述的这种方法通常是理解数量性状分子基础的第一步。新的大规模测序调查有可能直接将基因型与生物体表型联系起来，提供更广泛的致病遗传变异目录。对中间表型（如RNA、蛋白质或代谢物水平）的进一步分析可以产生个体变异的多层次综合视图，从而得到基因型-表型图谱的高分辨率视图。
