Molecular cloning of WIF1 and HMGA2 reveals ear-preferential expression while uncovering a missense mutation associated with porcine ear size in WIF1

文献类型： 外文期刊

第一作者： Liang, J.

作者： Liang, J.;Zhang, Y.;Wang, L.;Liu, X.;Yan, H.;Wang, L.;Zhang, L.;Liang, J.;Zhang, Y.;Wang, L.;Liu, X.;Yan, H.;Wang, L.;Zhang, L.;Liang, J.;Zhang, Y.;Wang, L.;Liu, X.;Yan, H.;Wang, L.;Zhang, L.;Liang, J.

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关键词： association study; expression profile; gene cloning; outer ear area; Wnt inhibitory factor 1

期刊名称：ANIMAL GENETICS （ 影响因子：3.169； 五年影响因子：3.058 ）

ISSN： 0268-9146

年卷期： 2019 年 50 卷 2 期

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收录情况： SCI

摘要： Considerable diversity exists in porcine ear size, which is an important morphological feature of pig breeds. Previously, we localized four crucial candidate genes-high mobility group AT-hook 2 (HMGA2), LEM domain-containing 3 (LEMD3), methionine sulfoxide reductase B3 (MSRB3) and Wnt inhibitory factor 1 (WIF1)-on Sus Scrofa chromosome 5 affecting porcine ear size, then cloned LEMD3 and MSBR3. In this study, we performed rapid amplification of cDNA ends to obtain full-length cDNA sequences of 2338-bp WIF1 and 2998-bp HMGA2. Using quantitative real-time PCR, we revealed that WIF1 expression was highest in ear cartilage of 60-day-old pigs and that this is therefore a better candidate gene for ear size than HMGA2. We further screened coding sequence variants in both genes and identified only one missense mutation (WIF1:c.1167C>G) in a conserved epidermal growth factor-like domain from the mammalian WIF1 protein. The protein-altering mutation was significantly associated with ear size across the Large White x Minzhu hybrid and Beijing Black pig populations. When WIF1:c.1167C>G was included as fixed effect in the model to re-run a genome-wide association study in the Large White x Minzhu intercross population the P-value of the peak SNP on SSC5 from re-running the genome-wide association study dropped from 2.45E-12 to 7.33E-05. Taken together, the WIF1:c.1167C>G could be an important mutation associated with ear size. Our findings provide helpful information for further studies of the molecular mechanisms controlling porcine ear size.

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