Summary: | In this study, we employed a dual-luciferase reporter assay and electrophoretic mobility shift analysis (EMSA) in vitro to explore whether a 12-base pair (bp) insertion/deletion (InDel) variant (namely g.14798187_14798188insTCCCTGCCCCCT) within intron 2 of the chicken <i>BMP2</i> gene, which was significantly associated with chicken abdominal fat weight and abdominal fat percentage, is a functional marker and its potential regulatory mechanism. The reporter analysis demonstrated that the luciferase activity of the deletion allele was extremely significantly higher than that of the insertion allele (<i>p</i> < 0.01). A bioinformatics analysis revealed that compared to the deletion allele, the insertion allele created a transcription factor binding site of <i>nuclear factor-kappa B</i> (<i>NF-κB</i>), which exhibited an inhibitory effect on fat deposition. A dual-luciferase reporter assay demonstrated that the inhibitory effect of <i>NF-κB</i> on the deletion allele was stronger than that on the insertion allele. EMSA indicated that the binding affinity of <i>NF-κB</i> for the insertion allele was stronger than that for the deletion allele. In conclusion, the 12-bp InDel chicken <i>BMP2</i> gene variant is a functional variant affecting fat deposition in chickens, which may partially regulate <i>BMP2</i> gene expression by affecting the binding of transcription factor <i>NF-κB</i> to the <i>BMP2</i> gene.
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