• Journal of Veterinary Science
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• v.19 no.6
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• pp.850-854
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• 2018

Novel H5N6 highly pathogenic avian influenza viruses (HPAIVs) were isolated from duck farms and migratory bird habitats in South Korea in November to December 2017. Genetic analysis demonstrated that at least two genotypes of H5N6 were generated through reassortment between clade 2.3.4.4 H5N8 HPAIVs and Eurasian low pathogenic avian influenza virus in migratory birds in late 2017, suggesting frequent reassortment of clade 2.3.4.4 H5 HPAIVs and highlighting the need for systematic surveillance in Eurasian breeding grounds.

• Genomics & Informatics
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• v.20 no.1
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• pp.5.1-5.10
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• 2022

Non-syndromic hearing loss (NSHL) is a common hereditary disorder. Both clinical and genetic heterogeneity has created many obstacles to understanding the causes of NSHL. The present study has attempted to ravel the genetic aetiology in NSHL progression and to screen out potential target genes using computational approaches. The reported NSHL target genes (2009-2020) have been studied by analyzing different biochemical and signaling pathways, interpretation of their functional association network, and discovery of important regulatory interactions with three previously established miRNAs in the human inner ear as well as in NSHL such as miR-183, miR-182, and miR-96. This study has identified SMAD4 and SNAI2 as the most putative target genes of NSHL. But pathogenic and deleterious non-synonymous single nucleotide polymorphisms discovered within SMAD4 is anticipated to have an impact on NSHL progression. Additionally, the identified deleterious variants in the functional domains of SMAD4 added a supportive clue for further study. Thus, the identified deleterious variant i.e., rs377767367 (G491V) in SMAD4 needs further clinical validation. The present outcomes would provide insights into the genetics of NSHL progression.

• Asian-Australasian Journal of Animal Sciences
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• v.29 no.5
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• pp.607-614
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• 2016

The objectives of the study were to estimate genetic parameters for milk production traits of Holstein cattle using random regression models (RRMs), and to compare the goodness of fit of various RRMs with homogeneous and heterogeneous residual variances. A total of 126,980 test-day milk production records of the first parity Holstein cows between 2007 and 2014 from the Dairy Cattle Improvement Center of National Agricultural Cooperative Federation in South Korea were used. These records included milk yield (MILK), fat yield (FAT), protein yield (PROT), and solids-not-fat yield (SNF). The statistical models included random effects of genetic and permanent environments using Legendre polynomials (LP) of the third to fifth order (L3-L5), fixed effects of herd-test day, year-season at calving, and a fixed regression for the test-day record (third to fifth order). The residual variances in the models were either homogeneous (HOM) or heterogeneous (15 classes, HET15; 60 classes, HET60). A total of nine models (3 orders of $polynomials{\times}3$ types of residual variance) including L3-HOM, L3-HET15, L3-HET60, L4-HOM, L4-HET15, L4-HET60, L5-HOM, L5-HET15, and L5-HET60 were compared using Akaike information criteria (AIC) and/or Schwarz Bayesian information criteria (BIC) statistics to identify the model(s) of best fit for their respective traits. The lowest BIC value was observed for the models L5-HET15 (MILK; PROT; SNF) and L4-HET15 (FAT), which fit the best. In general, the BIC values of HET15 models for a particular polynomial order was lower than that of the HET60 model in most cases. This implies that the orders of LP and types of residual variances affect the goodness of models. Also, the heterogeneity of residual variances should be considered for the test-day analysis. The heritability estimates of from the best fitted models ranged from 0.08 to 0.15 for MILK, 0.06 to 0.14 for FAT, 0.08 to 0.12 for PROT, and 0.07 to 0.13 for SNF according to days in milk of first lactation. Genetic variances for studied traits tended to decrease during the earlier stages of lactation, which were followed by increases in the middle and decreases further at the end of lactation. With regards to the fitness of the models and the differential genetic parameters across the lactation stages, we could estimate genetic parameters more accurately from RRMs than from lactation models. Therefore, we suggest using RRMs in place of lactation models to make national dairy cattle genetic evaluations for milk production traits in Korea.

• Korean Journal of Medicinal Crop Science
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• v.11 no.5
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• pp.377-384
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• 2003

Genetic differences among nine land races of Korean ginseng (Panax ginseng C. A. Meyer) were examined using RAPD markers. Land races of Korean ginseng were collected from nine regions in Korea: Cheongwon, Guesan, Geumsan, Namwon, Pochun, Yangju, Yeoncheon, Yeongju. Out of 48 RAPD primers tested, 5 primers (OPA 7, OPA 13, URP 2, URP 3 and UBC 3) produced remarkable bands which showing polymorphisms among evaluated collections. Lower levels of genetic diversity were in detected same land races than among other land races. Genetic differences within and among land races indicate heterogeneity. These results indicate that cultivated ginseng in Korea is heterogeneous. Genetic similarity matrices of RAPD profiles were generated via coefficients of variation and the data were processed by the cluster analysis (UPGMA). When 90 collections were evaluated using selected 5 primers, those were clustered to 5 and 3 subgroups. These differences in genetic variation between land races of Korean ginseng implied the potential source for further breeding of Korean ginseng.

• Genomics & Informatics
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• v.6 no.1
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• pp.29-31
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• 2008

Single nucleotide polymorphisms (SNPs) in the promoter region of the IL-1B (interleukin-1) gene have been implicated in a variety of diseases that have an inflammatory component. However, there has been significant heterogeneity among study results, especially between Caucasian and Asian populations. Recently, it has been reported that SNPs in the IL-1B gene affect transcription, according to haplotype context, and genetic association studies may be more informative if functional SNP haplotypes of population are analyzed. Therefore, we estimated the distribution of IL-1B promoter haplotypes in 433 Koreans using the three major functional IL-1B promoter SNPs (IL-1B -1464, -511, and -31) and compared the results with those in Caucasians. The difference in IL-1B promoter haplotype frequency between Korean and Caucasian populations was statistically significant. The potentially more inflammatory haplotypes had higher frequencies in Koreans when compared with Caucasians. These Korean haplotype data will be useful for future association studies between IL-1B SNPs and disease risk.

• Animal cells and systems
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• v.10 no.2
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• pp.65-71
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• 2006

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common inherited renal disorders in the world. Mutations in PKD1 located on chromosome 16p13.3 are responsible for 85% of all the ADPKD patients whereas mutations in PKD2 on chromosome 4q21-23 are responsible for the rest of the cases. Genetic heterogeneity and the problems of mutation detection in PKD1 suggest that linkage analysis is an important approach to study the genetics of ADPKD. To evaluate the availability of six (CA)n microsatellite markers for the linkage analysis of ADPKD in the Korean population, we examined the allele frequencies and heterozygosities of the markers. With the exception of KG8, five markers were highly informative, with PIC values over 0.5, but the PIC value of KG8 marker was less informative than other five markers because of the low number of alleles. Therefore, this study will be useful in linkage analysis for ADPKD families in the Korean population.

• International Journal of Stem Cells
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• v.17 no.1
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• pp.15-29
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• 2024

The development and differentiation of endothelial cells (ECs) are fundamental processes with significant implications for both health and disease. ECs, which are found in all organs and blood vessels, play a crucial role in facilitating nutrient and waste exchange and maintaining proper vessel function. Understanding the intricate signaling pathways involved in EC development holds great promise for enhancing vascularization, tissue engineering, and vascular regeneration. Hematopoietic stem cells originating from hemogenic ECs, give rise to diverse immune cell populations, and the interaction between ECs and immune cells is vital for maintaining vascular integrity and regulating immune responses. Dysregulation of vascular development pathways can lead to various diseases, including cancer, where tumor-specific ECs promote tumor growth through angiogenesis. Recent advancements in single-cell genomics and in vivo genetic labeling have shed light on EC development, plasticity, and heterogeneity, uncovering tissue-specific gene expression and crucial signaling pathways. This review explores the potential of ECs in various applications, presenting novel opportunities for advancing vascular medicine and treatment strategies.

• Proceedings of the Korean Society of Crop Science Conference
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• 2017.06a
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• pp.31-31
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• 2017

Understanding the mechanism(s) to overcome or prevent seed ageing deterioration during storage is of fundamental interest to seed physiologists. Vitamin E (tocols) is known as a key metabolite to efficiently scavenge lipid peroxy radicals which cause membrane breakdown resulting in seed ageing. However, in rice research this hypothesis has been tested for very few lines only without considering intraspecific variation in genomic structure. Here, we present a correlation study between tocols and seed longevity using a diverse rice panel. Seeds of 20 rice accessions held in the International Rice Genebank at the International Rice Research Institute, representing aus, indica, temperate japonica and tropical japonica subpopulations, were used for tocols analysis (quantification of ${\alpha}$-, ${\beta}$-, ${\gamma}$-, ${\delta}$-tocopherol/tocotrienol by ultra performance liquid chromatography) and storage experiments at $45^{\circ}C$ and 10.9% seed moisture content (sample taken for germination testing every 3 days up to 60 days). To examine interactions between DNA sequences and phenotype, the 700k high-density single-nucleotide polymorphism marker data-set was utilized. Both seed longevity (time for viability to fall to 50%; $p_{50}$) and tocols content varied across subpopulations due to heterogeneity in the genetic architecture. Among eight types of tocol homologues, ${\alpha}$-tocopherol and ${\gamma}$-tocotrienol were significantly correlated with $p_{50}$ (negatively and positively, respectively). While temperate japonica varieties were most abundant in ${\alpha}$-tocopherol, indica varieties recorded 1.3 to 1.7-fold higher ${\gamma}$-tocotrienol than those of other subpopulations. It was highlighted that specific ratio of tocol homologues rather than total tocols content plays an important role in the seed longevity mechanism.

• Korean Journal of Veterinary Service
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• v.32 no.1
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• pp.1-10
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• 2009

In order to obtain the genetic information of the Korean isolates of porcine circovirus 2 (PCV2), complete genomes of five isolates from Korean PCVD weaned pigs with wasting syndromes were sequenced and compared with those of other published PCV2 isolates. Of the five PCV2 isolates, four (1767 nucleotides) were classified into PCV2b, and one (1,768 nucleotides) was PCV2a. Moreover, it appeared that PCV2b is now the dominant genotype circulating in Korea herds. Total complete genomes of four PCV2b isolates shared $99.1{\sim}99.4%$ nucleotide sequence homology each other, and were only $95.4{\sim}96.2%$ similar to one PCV2a isolate. ORF2 genome of four PCV2b isolates shared over 99% nucleotide sequence and deduced amino acid sequence identity to each other. Nevertheless, those were much divergent with the PCV2a isolate of this study and ranged from $92.3{\sim}92.7%$ nucleotide homology and $91.9{\sim}92.3%$ deduced amino acid sequence homology, respectively. The amino acid sequence alignments of the putative capsid protein identified three major regions of amino acid heterogeneity at residues $59{\sim}91$, $121{\sim}136$ and $190{\sim}210$. Two of those correspond with dominant immunoreactive areas. Phylogenetic analysis based on the complete genome of PCV2 isolates showed that four PCV2b isolates of this study existed the closest relationship with European strains (Netherland, UK and France). One PCV2a isolate was closely related to Japan and North America strains.

• Korean Journal of Head & Neck Oncology
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• v.16 no.1
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• pp.3-8
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• 2000

Background and Objectives: Adenoid cystic carcinoma of salivary glands is characterized by insidious growth over many years, local recurrences, and distant metastasis and classified to three distinct histologic subtypes: tubular, cribriform, and solid. The solid type is known to have the worst prognosis. However, histopathologic heterogeneity is observed in tumors from the same patient. We have attempted to elucidate the genotypic differences, characterized by polysomies of chromosome 17, in adenoid cystic carcinoma according to the phenotypic histopathologic heterogeneity. Materials and Methods: Fluorescence in situ hybridization was performed on formalin-fixed paraffin blocks from seven patients with head and neck adenoid cystic carcinoma, using the centromeric $\alpha$-satellite probe of chromosome 17 to detect nuclei exhibiting polysomy. The difference in polysomeric chromosome expression in cribriform, tubular, solid type and type I, II, III according to the Szanto classification was analyzed. Results: Polysomy of chromosome 17 was found in 15.28% of the cribriform type, in 15.68% of the tubular type, and in 18.87% of the solid type. The proportion of polysomy was statistically higher in the solid type than in the cribriform type(p<0.05), and the proportion of polysomy increased progressively from type 1 to type 3, but this trend was statistically insignificant(p>0.05). Conclusion: We suggest that there may be genetic variations in tumor from the same patient depending on the histopathologic heterogenetiy in adenoid cystic carcinomas.