Identification and genetic effect of a variable duplication in the promoter region of the cattle <scp><i>ADIPOQ</i></scp> gene

Abstract

In cattle, the ADIPOQ gene is located in the vicinity of the quantitative trait locus (QTL) affecting marbling, the ribeye muscle area and fat thickness on BTA1. In our study, a novel variable duplication (NW_003103812.1:g.9232067_9232133dup) in the bovine ADIPOQ promoter region was identified and genotyped in seven Chinese cattle breeds. Using a reporter assay, we demonstrated that g.9232067_9232133dup decreased the basal transcriptional activity of the ADIPOQ gene in the 3T3-L1 and C2C12 cells. Furthermore, g.9232067_9232133dup suppressed the mRNA expression of the gene in adipose and muscle tissues. An association analysis indicated that the incremental variable duplication was associated with body measurements.