A single nucleotide polymorphism possibly associated with fat deposition is methylated in the bovine TFAM promoter

Tanja KUNEJ, Zeping WANG, Jennifer J. MICHAL, Peter DOVČ, Nancy S. MAGNUSON, Zhihua JIANG


Mitochondrial transcription factor A (TFAM) is a nuclear-encoded mitochondrial protein that plays an important role in energy metabolism and is a candidate gene for fat deposition in cattle and human. In the present study, we characterized the methylation status of bovine TFAM promoter flanking the single nucleotide polymorphism (SNP) rs42159487C>T, previously reported to affect fat deposition. Our results showed that the cytosine at this SNP position is methylated and therefore results in gain/loss of the functional CpG locus (5mC>T). Promoter constructs developed based on three TFAM SNPs showed that the C/C/C haplotype associated with fat deposition in beef cattle had lower promoter function/activity than A/T/T haplotype. Our results imply that genetic variability underlying gain/loss of the CpG sites in the nuclear-encoded mitochondrial proteins might be good candidate loci for fat deposition phenotypes.


cattle; genetics; genetic polymorphism; candidate genes; gene promoters; TFAM; DNA methylation; CpG island; fat deposition

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DOI: http://dx.doi.org/10.14720/aas.2016.108.2.1


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Copyright (c) 2016 Tanja KUNEJ, Zeping WANG, Jennifer J. MICHAL, Peter DOVČ, Nancy S. MAGNUSON, Zhihua JIANG

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