Kwan-Suk Kim

Genetic diversity, population structure and relationships in indigenous cattle populations of Ethiopia and Korean Hanwoo breeds using SNP markers

In total, 166 individuals from five indigenous Ethiopian cattle populations – Ambo (n = 27), Borana (n = 35), Arsi (n = 30), Horro (n = 36), and Danakil (n = 38) – were genotyped for 8773 single nucleotide polymorphism (SNP) markers to assess genetic diversity, population structure, and relationships. As a representative of taurine breeds, Hanwoo cattle (n = 40) were also included in the study for reference. Among Ethiopian cattle populations, the proportion of SNPs with minor allele frequencies (MAFs) ≥0.05 ranged from 81.63% in Borana to 85.30% in Ambo, with a mean of 83.96% across all populations. The Hanwoo breed showed the highest proportion of polymorphism, with MAFs ≥0.05, accounting for 95.21% of total SNPs. The mean expected heterozygosity varied from 0.370 in Danakil to 0.410 in Hanwoo. The mean genetic differentiation (FST; 1%) in Ethiopian cattle revealed that within individual variation accounted for approximately 99% of the total genetic variation. As expected, FST and Reynold genetic distance were greatest between Hanwoo and Ethiopian cattle populations, with average values of 17.62 and 18.50, respectively. The first and second principal components explained approximately 78.33% of the total variation and supported the clustering of the populations according to their historical origins. At K = 2 and 3, a considerable source of variation among cattle is the clustering of the populations into Hanwoo (taurine) and Ethiopian cattle populations. The low estimate of genetic differentiation (FST) among Ethiopian cattle populations indicated that differentiation among these populations is low, possibly owing to a common historical origin and high gene flow. Genetic distance, phylogenic tree, principal component analysis, and population structure analyses clearly differentiated the cattle population according to their historical origins, and confirmed that Ethiopian cattle populations are genetically distinct from the Hanwoo breed.

Genome-wide genetic diversity, population structure and admixture analysis in African and Asian cattle breeds

Knowledge about genetic diversity and population structure is useful for designing effective strategies to improve the production, management and conservation of farm animal genetic resources. Here, we present a comprehensive genome-wide analysis of genetic diversity, population structure and admixture based on 244 animals sampled from 10 cattle populations in Asia and Africa and genotyped for 69,903 autosomal single-nucleotide polymorphisms (SNPs) mainly derived from the indicine breed. Principal component analysis, STRUCTURE and distance analysis from high-density SNP data clearly revealed that the largest genetic difference occurred between the two domestic lineages (taurine and indicine), whereas Ethiopian cattle populations represent a mosaic of the humped zebu and taurine. Estimation of the genetic influence of zebu and taurine revealed that Ethiopian cattle were characterized by considerable levels of introgression from South Asian zebu, whereas Bangladeshi populations shared very low taurine ancestry. The relationships among Ethiopian cattle populations reflect their history of origin and admixture rather than phenotype-based distinctions. The high within-individual genetic variability observed in Ethiopian cattle represents an untapped opportunity for adaptation to changing environments and for implementation of within-breed genetic improvement schemes. Our results provide a basis for future applications of genome-wide SNP data to exploit the unique genetic makeup of indigenous cattle breeds and to facilitate their improvement and conservation.

Effect of Population Reduction on mtDNA Diversity and Demographic History of Korean Cattle Populations.

The population sizes of three Korean indigenous cattle populations have been drastically reduced over the past decades. In this study, we examined the extent to which reduction in populations influenced genetic diversity, population structure and demographic history using complete mitochondrial DNA (mtDNA) control region sequences. The complete mtDNA control region was sequenced in 56 individuals from Korean Black (KB), Jeju Black (JEB) and Korean Brindle (BRI) cattle populations. We included 27 mtDNA sequences of Korean Brown (BRO) from the GenBank database. Haplotype diversity estimate for the total population was high (0.870) while nucleotide diversity was low (0.004). The KB showed considerably low nucleotide (π = 0.001) and haplotype (h = 0.368) diversities. Analysis of molecular variance revealed a low level of genetic differentiation but this was highly significant (p<0.001) among the cattle populations. Of the total genetic diversity, 7.6% was attributable to among cattle populations diversity and the rest (92.4%) to differences within populations. The mismatch distribution analysis and neutrality tests revealed that KB population was in genetic equilibrium or decline. Indeed, unless an appropriate breeding management practice is developed, inbreeding and genetic drift will further impoverish genetic diversity of these cattle populations. Rational breed development and conservation strategy is needed to safeguard these cattle population.

Effect of polymorphisms in the GBP1, Mx1 and CD163 genes on host responses to PRRSV infection in pigs

Porcine reproductive and respiratory syndrome (PRRS) is the most economically important disease to the swine industry, and effective prevention strategy for this disease is still required. Guanylate-binding protein 1 (GBP1) and myxovirus resistance protein 1 (Mx1) are two important proteins belonging to the GTPase superfamily that have been previously described to show antiviral effects. CD163 is considered the most important receptor for PRRSV attachment and internalization. Therefore, the aim of the present study was to evaluate the effects of these genes on host resistance against PRRSV infection in conjunction with the host immune response following PRRSV challenge. The results showed that pigs with AG genotype for the GBP1 exon2 exhibited a significantly higher average daily weight gain (ADWG) and lower average viremia than AA or GG genotype. Furthermore, pigs harbouring the AG genotype for the GBP1 gene presented greater CD4(+)CD25(+) and CD8(+)CD25(+) T cell populations at 4 and 18 days post challenge (dpc), respectively, as compared with other genotypes whereas pigs with CC genotype for the CD163 gene displayed significantly higher nucleocapsid-specific antibody titers at 11dpc. However, pigs with a single 11-bp deletion or insertion in the Mx1 gene did not show significant differences in either weight gain or viremia. Based on these results, we concluded that GBP1 is most significantly associated with resistance against PRRSV infection and efficient T cell activation in pigs.

Genome-wide linkage disequilibrium analysis of indigenous cattle breeds of Ethiopia and Korea using different SNP genotyping BeadChips

Knowledge of the extent of linkage disequilibrium (LD) between markers is crucial for determining the number of markers required for quantitative trait loci mapping, genome-wide association studies, and application of marker-assisted selection. In this study, we surveyed genome-wide LD using three genotyping BeadChips (9, 50, and 80xa0K) in 11 indigenous Ethiopian cattle populations and the Korean (Hanwoo) cattle breed. The overall mean r2 values were 0.05xa0±xa00.12, 0.12xa0±xa00.20, and 0.20xa0±xa00.24 in the Ethiopian cattle populations for the 9, 50, and 80xa0K genotyping BeadChips, respectively. In Hanwoo cattle, these values were respectively 0.06xa0±xa00.13, 0.15xa0±xa00.23, and 0.15xa0±xa00.26. The level of LD was significantly affected by breed, genotyping BeadChip, and chromosome (Pxa0<xa00.0001). For Ethiopian cattle populations, a moderate level of LD (r2xa0=xa00.22) extended at marker distances of 20–40xa0kb for the indicine-derived 80xa0K BeadChip, whereas it was only 0.14 for the 50xa0K BeadChip. As a consequence of the moderate r2, genome-wide association studies in Ethiopian cattle populations require 75,000–150,000 indicine-derived SNPs (with a MAFxa0≥xa00.05). We suggest that indicine-derived SNPs maybe more suitable for genome-wide association studies and genomic selection in indigenous Ethiopian (or African) cattle populations.

Development of SNP Markers for Domestic Pork Traceability

The purpose of the study was to develop an optimum SNP marker set to be utilized for domestic pork traceability. The study tested 51 SNP markers analyzed for origin of farm to be determined from genotypes of offspring and parents in pigs. With the simulation data through random mating population (PI), half sib mating population (PIhalf-sib) and full sib mating population (PIsibs), probability of identical genotypes were analyzed as 5.63×10 33 , 4.35×10 15 and 1.32×10 15 , respectively. The 51 SNP markers also had 100% accuracy for parental determination. These results suggest that if the pig breeding stock is genotyped with the 51 SNP markers, the genotype information of individual offspring can be checked for farm origins by tracing parental sow and sire. Therefore, these SNP markers will be useful to trace the pork from production to consumption in pigs. (Key words : Pig breeding, SNPs, Pork origin, Parentage analysis)

Porcine insulin-like growth factor 1 (IGF1) gene polymorphisms are associated with body size variation

Previous studies have confirmed that insulin growth factor-1 (IGF1) plays important roles in growth and body size in humans and animals. However, whether single nucleotide polymorphisms (SNPs) within the IGF1 gene affects body size and growth in pigs has been unclear. We identified IGF1 SNPs among 5 pig breeds (Berkshire, Duroc, Landrace, Yorkshire and Korea Native Pig) and found that the G allele of SNP (c.G189A) was associated with higher body weight and was more predominant in western pig breeds, while the Korean Native Pig is the breed with the highest frequency of the A allele. Four haplotypes (–GA–, –GG–, –AG–, and –AA–) were constructed using the 2 identified SNPs. The GA haplotype was most frequently observed, except in the Berkshire breed. In addition, these SNPs and haplotypes were significantly associated with body size (final weight), average daily gain, and backfat thickness (Pxa0<xa00.05) in 2 intercrossed F2 pig populations (KNPxa0×xa0YS F2 and KNPxa0×xa0LR F2). Furthermore, the major GA haplotype had a significant additive effect on body size and average daily gain. In conclusion, specific SNPs within the porcine IGF1 gene may contribute to the smaller body size and lower growth rate of Korea Native Pigs.

Inter- and intra-population genetic divergence of East Asian cattle populations: focusing on Korean cattle

In order to facilitate the on-going cattle conservation and improvement programs in Korea, we examined genetic relationships among East Asian cattle, focusing on Korean native cattle, using complete mitochondrial DNA control region sequences. In total, 67 haplotypes were discriminated by 97 variable sites in East Asian cattle. Of the variable sites, 35 represented singleton variable sites and 62 were parsimony informative sites. For Korean cattle, 30 haplotypes were discriminated by 40 variable sites. The variable sites identified in this study correspond to transition or transversion point mutations. Inter-populations genetic distance varied from 0.004 to 0.052 for East Asian cattle populations. The genetic divergence observed between Korean Brown and Jeju Black (0.004) was among the lowest. The Mongolian cattle were slightly divergent from other East Asian cattle populations studied. The network analysis uncovered that Jeju Black and Yunbian samples represented the possible ancestral Haplotype within T3 Bos taurus main lineage. Thus, we hypothesized that the Jeju and Yunbian cattle may represent one of the original native North East Asian cattle in the region.

Characterization of the Bovine FASN Gene Variation for Carcass and Beef Quality Traits in Hanwoo

Fatty acid synthase (FASN) is a multi-functional enzyme with a central role in the synthesis of long-chain fatty acid and has been considered as a positional candidate gene for BTA 19 quantitative trait loci (QTL) affecting milk-fat content and fatty acid composition. In this study, we sequenced the FASN gene in several cattle breeds including Hanwoo and imported beef cattle, and identified novel DNA polymorphisms and their linkage relationship in Hanwoo. We found a significant frequency difference of the FASN (AF285607) g.17924 A G polymorphism between Hanwoo (70%) and other breeds and this polymorphism has been known for an association with fatty acid composition in Angus. Furthermore, by direct DNA sequencing in 18 unrelated Hanwoo, we identified 27 SNPs including nine novel variations in the FASN gene. Among 27 SNPs identified in the FASN gene, four SNPs were further genotyped in 100 Hanwoo and 96 imported beef cattle, and analyzed for haplotype construction and association with beef quality traits. We performed haplotype block and linkage disequilibrium studies using four selected SNPs. Two different haplotype blocks (block A: g.10568 C T and g.11280 G A; block B: g.13125 C T and g.17924 G A) were constructed and the block A in particular had a very high r2 (0.936), which indicated a nearly complete linkage disequilibrium existed between the g.10568 C T and g.11280 G A polymorphisms. A total of four major haplotypes (frequency > 0.05) were identified with the four polymorphisms including TATG (0.36), CGCG (0.31), CGTA (0.19) and TACG (0.06). Statistical association analysis revealed that the g.10568 C T and g.11280 G A polymorphisms in the FASN were significantly associated with meat color (P=0.004) and texture (P=0.0114). The g.13125 C T and g.17924 G A polymorphisms in the FASN were also significantly associated with back-fat thickness and quantity index (P=0.0179 and 0.0495, respectively). Our findings suggested that the FASN gene polymorphisms may be used for determining the (unsaturated) fatty acid contents and carcass trait in the Hanwoo beef.

A whole genomic scan to detect selection signatures between Berkshire and Korean native pig breeds

BackgroundScanning of the genome for selection signatures between breeds may play important role in understanding the underlie causes for observable phenotypic variations. The discovery of high density single nucleotide polymorphisms (SNPs) provide a useful starting point to perform genome–wide scan in pig populations in order to identify loci/candidate genes underlie phenotypic variation in pig breeds and facilitate genetic improvement programs. However, prior to this study genomic region under selection in commercially selected Berkshire and Korean native pig breeds has never been detected using high density SNP markers. To this end, we have genotyped 45 animals using Porcine SNP60 chip to detect selection signatures in the genome of the two breeds by using the FST approach.ResultsIn the comparison of Berkshire and KNP breeds using the FDIST approach, a total of 1108 outlier loci (3.48%) were significantly different from zero at 99% confidence level with 870 of the outlier SNPs displaying high level of genetic differentiation (FST ≥0.490). The identified candidate genes were involved in a wide array of biological processes and molecular functions. Results revealed that 19 candidate genes were enriched in phosphate metabolism (GO: 0006796; ADCK1, ACYP1, CAMK2D, CDK13, CDK13, ERN1, GALK2, INPP1; MAK, MAP2K5, MAP3K1, MAPK14, P14KB, PIK3C3, PRKC1, PTPRK, RNASEL, THBS1, BRAF, VRK1). We have identified a set of candidate genes under selection and have known to be involved in growth, size and pork quality (CART, AGL, CF7L2, MAP2K5, DLK1, GLI3, CA3 and MC3R), ear morphology and size (HMGA2 and SOX5) stress response (ATF2, MSRB3, TMTC3 and SCAF8) and immune response ( HCST and RYR1).ConclusionsSome of the genes may be used to facilitate genetic improvement programs. Our results also provide insights for better understanding of the process and influence of breed development on the pattern of genetic variations.