Novel Variants in <i>GDF9</i> Gene Affect Promoter Activity and Litter Size in Mongolia Sheep
2020
Tong, Bin | Wang, Jiapeng | Cheng, Zixuan | Liu, Jiasen | Wu, Yiran | Li, Yunhua | Bai, Chunling | Zhao, Suwen | Yu, Haiquan | Li, Guangpeng
Litter size is an economically important trait in sheep breeding. The objectives of this study were as follows: (1) to ascertain if any of the 19 known variants in the <i>BMPRIB</i>, <i>BMP1</i>5, and <i>GDF9</i> genes are present and associated with the litter size of Mongolia sheep; (2) to identify novel variants in <i>GDF9</i> and perform association analysis; and (3) to validate the effects of these <i>GDF9</i> promoter variants on the activity of the gene. The results of the 19 known variants showed that the <i>FecB<sup>B</sup></i> affected the litter size of Mongolia sheep (<i>p</i> < 0.001). The association analysis results of novel variants showed that the <i>g.46544883A>G</i> (GenBank accession: NC_040256, the same below) in the 3’ untranslated region (3’ UTR), the <i>c.1040T>C</i> (Phe347Ser) in the exon 2, and the <i>g.46547859C>T</i> SNP in the promotor of <i>GDF9</i> were significantly associated with litter size of Mongolia ewes (<i>p</i> < 0.01, <i>p</i> < 0.05, and <i>p</i> < 0.001, respectively). In addition, the <i>GDF9</i> promoter activity analysis showed that the <i>C</i> allele at the −332 position (<i>g.46547859C>T</i>) could decrease luciferase activity compared with the <i>T</i> allele (<i>p</i> < 0.01). Our findings may facilitate effective marker-assisted selection to increase litter size in Mongolia sheep populations, as well as bring new insights into <i>GDF9</i> expression.
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