Department of Human Genetics.
Genes Brain Behav. 2013 Oct;12(7):714-22. doi: 10.1111/gbb.12064. Epub 2013 Aug 5.
Using chromosome substitution strains (CSS), we previously identified a large quantitative trait locus (QTL) for conditioned fear (CF) on mouse chromosome 10. Here, we used an F2 cross between CSS-10 and C57BL/6J (B6) to localize that QTL to distal chromosome 10. That QTL accounted for all the difference between CSS-10 and B6. We then produced congenic strains to fine-map that interval. We identified two congenic strains that captured some or all the QTL. The larger congenic strain (Line 1: 122.387121-129.068 Mb; build 37) appeared to account for all the difference between CSS-10 and B6. The smaller congenic strain (Line 2: 127.277-129.068 Mb) was intermediate between CSS-10 and B6. We used haplotype mapping followed by quantitative polymerase chain reaction to identify one gene that was differentially expressed in both lines relative to B6 (Rnf41) and one that was differentially expressed between only Line 1 and B6 (Shmt2). These cis-eQTLs may cause the behavioral QTLs; however, further studies are required to validate these candidate genes. More generally, our observation that a large QTL mapped using CSS and F2 crosses can be dissected into multiple smaller QTLs shows a weaknesses of two-stage approaches that seek to use coarse mapping to identify large regions followed by fine-mapping. Indeed, additional dissection of these congenic strains might result in further subdivision of these QTL regions. Despite these limitations, we have successfully fine-mapped two QTLs to small regions and identified putative candidate genes, showing that the congenic approach can be effective for fine-mapping QTLs.
我们先前使用染色体替换品系(CSS)鉴定了用于条件性恐惧(CF)的小鼠 10 号染色体上的一个大数量性状基因座(QTL)。在这里,我们使用 CSS-10 和 C57BL/6J(B6)之间的 F2 杂交来将该 QTL定位到 10 号染色体的远端。该 QTL 解释了 CSS-10 和 B6 之间的所有差异。然后,我们生成了用于精细映射该区间的同系物品系。我们鉴定了两个捕获部分或全部 QTL 的同系物品系。较大的同系物品系(Line 1:122.387121-129.068 Mb;构建 37)似乎解释了 CSS-10 和 B6 之间的所有差异。较小的同系物品系(Line 2:127.277-129.068 Mb)在 CSS-10 和 B6 之间处于中间位置。我们使用单倍型图谱构建,随后进行定量聚合酶链反应,鉴定出两个在线相对于 B6 中差异表达的基因(Rnf41)和一个仅在线 1 与 B6 之间差异表达的基因(Shmt2)。这些顺式-eQTLs 可能导致行为 QTLs;但是,需要进一步的研究来验证这些候选基因。更一般地,我们的观察结果表明,使用 CSS 和 F2 杂交映射的大 QTL 可以分解为多个较小的 QTL,这表明寻求使用粗线图识别大区域然后进行精细映射的两阶段方法存在弱点。事实上,对这些同系物品系的进一步剖析可能会导致这些 QTL 区域的进一步细分。尽管存在这些限制,但我们已经成功地将两个 QTL 精细映射到小区域,并鉴定了潜在的候选基因,表明同系物方法可有效地用于精细映射 QTL。