Abstract
The identification of copy number variations (CNVs) allow us to explore genomic polymorphisms. In recent years, significant progress in understanding CNVs has been made in studies of human and animals, however, association and expression studies of CNVs are still in the early stage. It was previously reported that the Cytochrome P-450 4A11 (CYP4A11) gene is located within a copy number variable region (CNVR) that encompasses quantitative trait loci (QTLs) for economic traits like meat quality and milk production. So, this study was performed to determine the presence of CYP4A11 CNV in six distinct cattle breeds, identify its relationship with growth, and explore the biological effects of gene expression. For three CYP4A11 CNV types, Normal was more frequent than Gain or Loss. Association analysis revealed a positive effect of CYP4A11 copy number on growth traits (P < 0.05). One-way analysis of variance (ANOVA) analysis revealed that more CYP4A11 copies increased the gene expression level. Moreover, overexpression of CYP4A11 in vitro revealed its effect on lipid deposit. The data provide evidence for the functional role of CYP4A11 CNV and provide the basis for future applications in cattle breeding.
Highlights
The identification of copy number variations (CNVs) allow us to explore genomic polymorphisms
The distribution of quantitative trait loci (QTLs) were revealed, and artificial selection studies have been performed in dairy cattle to explore effects of genetic changes[8,9]
Two studies revealed that copy number variations (CNVs) that represent a significant source of genetic variation are widespread in human genomes[10,11]
Summary
The identification of copy number variations (CNVs) allow us to explore genomic polymorphisms. This study was performed to determine the presence of CYP4A11 CNV in six distinct cattle breeds, identify its relationship with growth, and explore the biological effects of gene expression. The distribution of quantitative trait loci (QTLs) were revealed, and artificial selection studies have been performed in dairy cattle to explore effects of genetic changes[8,9]. Two studies revealed that copy number variations (CNVs) that represent a significant source of genetic variation are widespread in human genomes[10,11]. Individual SNPs may occur more frequently, CNVs are of larger size, and occupy a higher percentage of genomic sequence and have potentially larger effects on phenotypic variation, including changing gene structure and dosage, altering gene regulation, and exposing recessive alleles[24]. Disease phenotype, and deletion of this region can result in insufficient levels of PMP22 and the HNPP (hereditary neuropathy with liability to pressure palsies)[27]
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