A novel nonsynonymous SNP in the OLR1 gene associated with litter size in Guizhou white goats.

Oxidized low-density lipoprotein receptor-1 (OLR1) encodes a low-density lipoprotein receptor belonging to the C-type lectin superfamily, which is closely related to reproduction. OLR1 is associated with fecundity in Awassi sheep. However, its effect on litter size has not been investigated in goats. In this study, OLR1 sequences and their mRNA expression levels in the gonadal axis of Guizhou white goats were evaluated to investigate the relationship between gene polymorphisms and litter size. In addition, the potential effects of a nonsynonymous substitution were evaluated using a bioinformatics approach. The expression levels of OLR1 were highest in the uterus of mothers with multiple kids and highest in the ovaries of mothers with single kids. OLR1 mRNA expression levels in the ovaries of mothers with single kids were two times higher than in the ovaries of mothers with multiple kids. The sequencing results revealed five SNPs in OLR1; however, only g.294 T > A, g.2260 T > C, and g.2268 C > T were significantly associated with litter size (P < 0.05). Linkage disequilibrium was detected between g.2260 T > C and g.2268 C > T (r = 0.322, D' = 0.6). Additionally, goats with the Hap 1/1 diplotype had a greater litter size than others (P < 0.05). g.2260 T > C was a nonsynonymous mutation that resulted in the replacement of valine with alanine at the amino acid residue 54 of the OLR1 protein. Bioinformatic analyses revealed that the p.V54A locus was relatively conserved in cloven-hoofed species. Mutations at this locus could change the local conformation and reduce the stability of OLR1, affecting its half-life and the litter size of the nanny goat. These findings confirm that OLR1 affects goat kidding traits and provide a novel insight into the regulatory mechanism underlying the effect of OLR1 on litter size.