Sirtuin3 gene tissue expression profiling, SNP detection and its association with body conformation traits in goats

Abstract

Abstract Sirtuin3 (SIRT3), a NAD+ dependent deacetylase, play a predominant role to control various metabolic processes involved in mammalian energy homeostasis. A study was conducted on two native goat breeds of Kerala, Malabari and Attappady Black, to analyze the tissue expression profile of caprine SIRT3, detect potential polymorphisms in exon 6 of SIRT3 and to study their association with production traits in goats. The mRNA isolated from ovary, uterus, liver and muscle of Malabari and Attappady Black goats were subjected to quantitative PCR (qPCR). Relative expression of caprine SIRT3 was significantly (p ≤ 0.05) higher in muscle, followed by uterus, liver and ovary. DNA was isolated from a total of 282 goats (176 Malabari and 106 Attappady Black) which exhibited three distinct banding patterns (PP, PQ and PR) for exon 6 fragment of SIRT3, on PCR-SSCP analysis. Sequencing the representative PCR products revealed the presence of two novel non-synonymous SNPs (c.802C > T and c.835 G > A) in the amplicon. The effect of the amino acid substitution on protein function was predicted by PolyPhen-2 tool which indicated that the amino acid change at position 802 was probably damaging and that at position 835 was benign. Further association analysis revealed that the diplotypes of exon 6 fragment had a significant (p ≤ 0.01) association with body weight. PR diplotpye was observed to be superior to PP and PQ diplotypes. All these results highlight the role of SIRT3 in growth traits and thus SIRT3 may be considered as a potential candidate gene for the production traits of goats.