Soo Hyun Lee

This study aimed to identify causal variants associated with important carcass traits such as weight and meat quality in Hanwoo cattle. We analyzed missense mutations extracted from imputed sequence data (ARS-UCD1.2) and performed an exon-specific association test on the carcass traits of 16,970 commercial Hanwoo. We found 33, 2, 1, and 3 significant SNPs associated with carcass weight (CW), backfat thickness (BFT), eye muscle area (EMA), and marbling score (MS), respectively. In CW and EMA, the most significant missense SNP was identified at 19,524,263 on BTA14 and involved the PRKDC. A missense SNP in the ZFAND2B, located at 107,160,304 on BTA2 was identified as being involved in BFT. For MS, missense SNP in the ACVR2B gene, located at 11,849,704 in BTA22 was identified as the most significant marker. The contribution of the most significant missense SNPs to genetic variance was confirmed to be 8.47%, 2.08%, 1.73%, and 1.19% in CW, BFT, EMA, and MS, respectively. We generated favorable and unfavorable haplotype combinations based on the significant SNPs for CW. Significant differences in GEBV (Genomic Estimated Breeding Values) were observed between groups with each favorable and unfavorable haplotype combination. In particular, the missense SNPs in PRKDC, MRPL9, and ANKFN1 appear to significantly affect the protein’s function and structure, making them strong candidates as causal mutations. These missense SNPs have the potential to serve as valuable markers for improving carcass traits in Hanwoo commercial farms.

The Korean native pig (KNP; Sus scrofa coreanus) is an indigenous porcine breed in South Korea considered as a valuable but dwindling genetic resource. Studies using diverse methodologies and genetic markers suggest that this population originated from the Manchu province of Northeastern China and migrated approximately 3000 years ago into the Korean peninsula. This study aimed to verify those findings by performing diversity and ancestral analyses using the 60K single-nucleotide polymorphism (SNP) BeadChip on 891 pigs of 47 breeds worldwide. We also performed principal component analysis (PCA), ancestry analyses, phylogenetic tree analysis using SNPhylo, and linkage disequilibrium analysis. Furthermore, we generated heatmap, obtained Nei’s genetic distance and F_ST values, and explored the heterozygosity of commercial and native Korean pigs. The results demonstrated that KNP pigs are more closely related to European breeds than to Chinese breeds. In addition, as previous studies have suggested, our admixture analyses indicated that KNP pigs showed distinguishable genetic structure.