A novel c.-652C>T mutation in UCHL1 gene is associated with the growth performance in Yangzhou goose.

As a member of the ubiquitin-dependent proteasome degradation pathway, Ubiquitin carboxyl-terminal hydrolase-L1 (UCHL1) plays a key role in post-translational modification and protein degradation, and it is extensive and important for the regulation of various biological functions of the organism. However, its function remains unclear in goose growth performance. In this study, the full-length genomic DNA and coding region of UCHL1 gene was firstly cloned and characterized in Yangzhou goose. Tissue expression profile revealed that UCHL1 was exclusively expressed in brain and gonads. A novel single nucleotide polymorphisms c.-652C>T which is significantly related to 64-d body weight of Yangzhou goose was found in UCHL1 promoter region by comparative sequencing. Correlation analysis in a population of 405 geese showed that TT genotype individuals had higher body weight than CC individuals in male, but not in female geese. Dual-luciferase reporter assay indicated that the single nucleotide polymorphisms c.-652C>T is located at the core promoter region of UCHL1, and the promoter transcription activity was significantly increased (P < 0.01) when allele C changed to T. Geese with TT genotype had higher mRNA level of UCHL1 in brain tissue than those of CC genotype (P < 0.01). Compared with CC individuals, neuropeptide Y and AdipoR1 mRNA level was significantly higher in TT individuals (P < 0.05), while FAS mRNA level was lower in the TT individuals (P < 0.05). In summary, we identify a novel mutation in the promoter of UCHL1 gene, which can alter transcriptional activity of UCHL1 gene, and affect the growth performance of male goose.