Molecular characterization and expression of RPS23 and HPSE and their association with hematologic parameters in sheep

•460 bp and 1708 bp of RPS23 and HPSE genes were cloned, and bioinformatics analysis were performed.•The mutation RPS23 g.720 A > G and HPSE g.1077 G > A were found and associated with hematologic parameters by SNP identification. In addition combined genotypes were also associated with hematologic parameters, such as GGHPSE/GGRPS23, AGHPSE/GGRPS23.•RPS23 and HPSE were widely expressed in sheep, and the expression levels of RPS23 and HPSE were highest at 3 months by RT-qPCR. Ribosomal protein S23 (RPS23) and Heparanase (HPSE) were located on chromosome 5 and chromosome 6, respectively, which play vital roles in protein synthesis and immunity. The objective of this study was to clone RPS23 and HPSE and to detect the expression levels of RPS23 and HPSE and the polymorphisms of RPS23 and HPSE associated with the hematologic parameters by using qRT-PCR, DNA sequencing and KASPar assay. The quantitative real-time PCR (RT-qPCR) showed that the two genes were expressed widely in the ten tissues of sheep. The expression levels of RPS23 and HPSE were the highest in lung and liver, respectively. The expression levels of RPS23 and HPSE in lung and liver increased from 0 to 3 months, decreased from 3 to 6 months, respectively. Furthermore, two mutations g.720 A > G and g.1077 G > A were detected in the RPS23 and HPSE, respectively, which were confirmed to be significantly associated with hematologic parameters. These results supported RPS23 g.720 A > G and HPSE g.1077 G > A as genetic markers of sheep.