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ABSTRACTA previous study using next-generation sequencing illustrated and confirmed that the cholinergic receptor muscarinic 3 (CHRM3)gene resides within CNVRs of yak populations that overlap with quantitative trait loci (QTL) relating to meat quality and growth, and plays a prominent role in smooth muscle contraction. This study was conducted to determine the distribution of the CNVs of the CHRM3gene in five Chinese domestic yak breeds and to investigate the influences of the CHRM3gene on the gene expression and growth traits of the Datong yak. The data were analyzed by ANOVA using SPSS software. Our results revealed that a gain CNV type in the CHRM3gene is more highly associated (P < 0.05) with various growth traits in six-month-old and five-year-old Datong yaks. The gain CNV type of the CHRM3gene more frequently occurred than loss and normal types in all yak breeds. Nevertheless, the CHRM3gene copy number had a highly significant (P < 0.0012) and moderately negative correlation with the mRNA transcription levels were determined in the skeletal muscle of Chinese Datong yaks. Therefore, we concluded that this study provided inclusive information on the application of CNVs of the CHRM3in growth traits and its possible function.

AbstractCopy number variations (CNVs) can cause radical changes in phenotype variation, gene expression and evolutionary adaptation, through gene dosage effects, disruption of transcript arrangement and regulatory polymorphisms. Therefore, the current study was undertaken to investigate the distribution of glypican1 (GPC1)CNVs in five domestic yak breeds, and their association growth traits and gene expression. The data were analysed using real-time quantitative PCR (qPCR). Loss and normal copy number types had a significant (p < .05) associated with body height, weight and length and chest girth than gain of copy number types. Population studies indicated that loss of copy number was more frequently observed in the Tianzhu, Gannan and Plateau yaks than the Polled and Datong yaks. We elucidated a moderately negative and highly significant (p < .005) correlation among DNA copy numbers and mRNA transcription levels of GPC1. From these results, we hypothesise that GPC1CNVs could alter mRNA transcription levels of skeletal muscles which impact on quantitative of growth traits. Our study makes data available for breeders and genomics studies focussing on the fundamental function of GPC1CNVs in gene expression and growth traits and presents the foundation for future molecular marker application in designing yak breeding programmes.HighlightsThe GPC1gene encompasses within CNVRs of yak individuals that overlap with growth traits.The copy number types of GPC1had a significant associated with growth traits of yak breedsNegative and highly significant correlation among DNA copy numbers and mRNA transcription levels of GPC1are obtained