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( Hyo Young Kim ),( Seoae Cho ),( Jeongmi Yu ),( Samsun Sung ),( Heebal Kim ) 생화학분자생물학회 (구 한국생화학분자생물학회) 2010 BMB Reports Vol.43 No.8
Biochemical tests such as aspartate aminotransferase (AST) and alanine aminotransferase (ALT) are useful for diagnosing patients with liver disease. In this study, we tested the association between copy number variation and the hepatic biomarkers AST and ALT based on 8,842 samples from population-based cohorts in Korea. We used Affymetrix Genome-Wide Human 5.0 arrays and identified 10,534 CNVs using HelixTree software. Of the CNVs tested using univariate linear regression, 100 CNVs were significant for AST and 16 were significant for ALT (P < 0.05). We identified 39 genes located within the CNV regions. DKK1 and HS3ST3B1 were shown to play roles in heparan sulfate biosynthesis and the Wnt signaling pathway, respectively. NAF1 and NPY1R were associated with glycoprotein processes and neuropeptide Y receptor activity based on GO categories. PTER, SOX14 and TM7SF4 were expressed in liver. DPYS and CTSC were found to be associated with dihydropyrimidinuria and Papillon-Lef?vre syndrome phenotypes using OMIM. NPY5R was found to be associated with dyslipidemia using the Genetic Association Database. [BMB reports 2010; 43(8): 547-553]
Lee, Young-Sup,Kim, Hyeon-Jeong,Cho, Seoae,Kim, Heebal Korea Genome Organization 2014 Genomics & informatics Vol.12 No.4
Best linear unbiased prediction (BLUP) has been used to estimate the fixed effects and random effects of complex traits. Traditionally, genomic relationship matrix-based (GRM) and random marker-based BLUP analyses are prevalent to estimate the genetic values of complex traits. We used three methods: GRM-based prediction (G-BLUP), random marker-based prediction using an identity matrix (so-called single-nucleotide polymorphism [SNP]-BLUP), and SNP-SNP variance-covariance matrix (so-called SNP-GBLUP). We used 35,675 SNPs and R package "rrBLUP" for the BLUP analysis. The SNP-SNP relationship matrix was calculated using the GRM and Sherman-Morrison-Woodbury lemma. The SNP-GBLUP result was very similar to G-BLUP in the prediction of genetic values. However, there were many discrepancies between SNP-BLUP and the other two BLUPs. SNP-GBLUP has the merit to be able to predict genetic values through SNP effects.
Genome-wide Association Study of Integrated Meat Quality-related Traits of the Duroc Pig Breed
Lee, Taeheon,Shin, Dong-Hyun,Cho, Seoae,Kang, Hyun Sung,Kim, Sung Hoon,Lee, Hak-Kyo,Kim, Heebal,Seo, Kang-Seok Asian Australasian Association of Animal Productio 2014 Animal Bioscience Vol.27 No.3
The increasing importance of meat quality has implications for animal breeding programs. Research has revealed much about the genetic background of pigs, and many studies have revealed the importance of various genetic factors. Since meat quality is a complex trait which is affected by many factors, consideration of the overall phenotype is very useful to study meat quality. For integrating the phenotypes, we used principle component analysis (PCA). The significant SNPs refer to results of the GRAMMAR method against PC1, PC2 and PC3 of 14 meat quality traits of 181 Duroc pigs. The Genome-wide association study (GWAS) found 26 potential SNPs affecting various meat quality traits. The loci identified are located in or near 23 genes. The SNPs associated with meat quality are in or near five genes (ANK1, BMP6, SHH, PIP4K2A, and FOXN2) and have been reported previously. Twenty-five of the significant SNPs also located in meat quality-related QTL regions, these result supported the QTL effect indirectly. Each single gene typically affects multiple traits. Therefore, it is a useful approach to use integrated traits for the various traits at the same time. This innovative approach using integrated traits could be applied on other GWAS of complex-traits including meat-quality, and the results will contribute to improving meat-quality of pork.
In silico SARS-CoV-2 vaccine development for Omicron strain using reverse vaccinology
Li Vladimir,Lee Chul,Yoo DongAhn,Cho Seoae,Kim Heebal 한국유전학회 2022 Genes & Genomics Vol.44 No.8
Background: The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic began in 2019 but it remains as a serious threat today. To reduce and prevent spread of the virus, multiple vaccines have been developed. Despite the efforts in developing vaccines, Omicron strain of the virus has recently been designated as a variant of concern (VOC) by the World Health Organization (WHO). Objective: To develop a vaccine candidate against Omicron strain (B.1.1.529, BA.1) of the SARS-CoV-19. Methods: We applied reverse vaccinology methods for BA.1 and BA.2 as the vaccine target and a control, respectively. First, we predicted MHC I, MHC II and B cell epitopes based on their viral genome sequences. Second, after estimation of antigenicity, allergenicity and toxicity, a vaccine construct was assembled and tested for physicochemical properties and solubility. Third, AlphaFold2, RaptorX and RoseTTAfold servers were used to predict secondary structures and 3D structures of the vaccine construct. Fourth, molecular docking analysis was performed to test binding of our construct with angiotensin converting enzyme 2 (ACE2). Lastly, we compared mutation profiles on the epitopes between BA.1, BA.2, and wild type to estimate the efficacy of the vaccine. Results: We collected a total of 10 MHC I, 9 MHC II and 5 B cell epitopes for the final vaccine construct for Omicron strain. All epitopes were predicted to be antigenic, non-allergenic and non-toxic. The construct was estimated to have proper stability and solubility. The best modelled tertiary structures were selected for molecular docking analysis with ACE2 receptor. Conclusions: These results suggest the potential efficacy of our newly developed vaccine construct as a novel vaccine candidate against Omicron strain of the coronavirus.
VCS: Tool for Visualizing Copy Number Variation and Single Nucleotide Polymorphism
Kim, HyoYoung,Sung, Samsun,Cho, Seoae,Kim, Tae-Hun,Seo, Kangseok,Kim, Heebal Asian Australasian Association of Animal Productio 2014 Animal Bioscience Vol.27 No.12
Copy number variation (CNV) or single nucleotide phlyorphism (SNP) is useful genetic resource to aid in understanding complex phenotypes or deseases susceptibility. Although thousands of CNVs and SNPs are currently avaliable in the public databases, they are somewhat difficult to use for analyses without visualization tools. We developed a web-based tool called the VCS (visualization of CNV or SNP) to visualize the CNV or SNP detected. The VCS tool can assist to easily interpret a biological meaning from the numerical value of CNV and SNP. The VCS provides six visualization tools: i) the enrichment of genome contents in CNV; ii) the physical distribution of CNV or SNP on chromosomes; iii) the distribution of log2 ratio of CNVs with criteria of interested; iv) the number of CNV or SNP per binning unit; v) the distribution of homozygosity of SNP genotype; and vi) cytomap of genes within CNV or SNP region.
Detecting Positive Selection of Korean Native Goat Populations Using Next-Generation Sequencing
Lee, Wonseok,Ahn, Sojin,Taye, Mengistie,Sung, Samsun,Lee, Hyun-Jeong,Cho, Seoae,Kim, Heebal Korean Society for Molecular and Cellular Biology 2016 Molecules and cells Vol.39 No.12
Goats (Capra hircus) are one of the oldest species of domesticated animals. Native Korean goats are a particularly interesting group, as they are indigenous to the area and were raised in the Korean peninsula almost 2,000 years ago. Although they have a small body size and produce low volumes of milk and meat, they are quite resistant to lumbar paralysis. Our study aimed to reveal the distinct genetic features and patterns of selection in native Korean goats by comparing the genomes of native Korean goat and crossbred goat populations. We sequenced the whole genome of 15 native Korean goats and 11 crossbred goats using next-generation sequencing (Illumina platform) to compare the genomes of the two populations. We found decreased nucleotide diversity in the native Korean goats compared to the crossbred goats. Genetic structural analysis demonstrated that the native Korean goat and cross-bred goat populations shared a common ancestry, but were clearly distinct. Finally, to reveal the native Korean goat's selective sweep region, selective sweep signals were identified in the native Korean goat genome using cross-population extended haplotype homozygosity (XP-EHH) and a cross-population composite likelihood ratio test (XP-CLR). As a result, we were able to identify candidate genes for recent selection, such as the CCR3 gene, which is related to lumbar paralysis resistance. Combined with future studies and recent goat genome information, this study will contribute to a thorough understanding of the native Korean goat genome.
Differential Evolution between Monotocous and Polytocous Species
Ahn, Hyeonju,Kim, Kyu-Won,Kim, Hyeon Jeong,Cho, Seoae,Kim, Heebal Asian Australasian Association of Animal Productio 2014 Animal Bioscience Vol.27 No.4
One of the most important traits for both animal science and livestock production is the number of offspring for a species. This study was performed to identify differentially evolved genes and their distinct functions that influence the number of offspring at birth by comparative analysis of eight monotocous mammals and seven polytocous mammals in a number of scopes: specific amino acid substitution with site-wise adaptive evolution, gene expansion and specific orthologous group. The mutually exclusive amino acid substitution among the 16 mammalian species identified five candidate genes. These genes were both directly and indirectly related to ovulation. Furthermore, in monotocous mammals, the EPH gene family was found to have undergone expansion. Previously, the EPHA4 gene was found to positively affect litter size in pigs and supports the possibility of the EPH gene playing a role in determining the number of offspring per birth. The identified genes in this study offer a basis from which the differences between monotocous and polytocous species can be studied. Furthermore, these genes may harbor some clues to the underlying mechanism, which determines litter size and may prove useful for livestock breeding strategies.