• Journal of Aquaculture
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• v.17 no.1
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• pp.1-7
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• 2004

A rainbow trout uncoupling protein 3 (UCP3) cDNA clone, encoding a 310 amino acid protein, was cloned and sequenced from a liver cDNA library. Two different splice variants designated UCP3-vl and UCP3-v2, were identified through liver cDNA library screening using rainbow trout UCP3 cDNA clone as a probe. UCP3-vl has 3 insertions in the UCP3 cDNA: the first insertion (133 bp), the second (141 bp), and the third (370 bp) were located 126 bp, 334 bp and 532 bp downstream from the start codon, respectively. UCP3-v2 contained a single insertion, identical in sequence and location to the second insertion of UCP3-vl. UCP3, a mitochondrial protein, functions to modulate the efficiency of oxidative phosphorylation. UCP3 has been detected from heart, testis, spinal cord, eye, retina, colon, muscle, brown adipose tissue and white adipose tissue in mammalian animals. Human and rodent UCP3s are highly expressed in skeletal muscle and brown adipose tissue, while they show weak expression of UCP3 in heart and white adipose tissue. In contrast to mammalian studies, RT-PCR and Southern blot analysis of the rainbow trout demonstrated that UCP3 is strongly expressed in liver and heart. UCP3, UCP3-vl, and UCP3-v2 all contain an Ava III short interspersed element (SINE), located in the 3'untraslated region (UTR). PCR using primers from the Ava III SINE and the UCP3 3'UTR region indicates that the UCP3 cDNA is structurally conserved among salmonids and that these primers may be useful for salmonid species genotyping.

• Anatomy & Biological Anthropology
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• v.31 no.4
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• pp.105-119
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• 2018

Archaeogenetics is an academic discipline that aims to establish scientific facts of human history by integrating ancient DNA analyses with archaeological and anthropological evidence. After ancient DNA research was initiated about 30 years ago, it has been innovated so rapidly that the range of analysis has been extended toward the whole genome sequence of ancient genomes in recent 10 years. By this development, researchers have been able to study in detail the origins and migration patterns of hominin species and ancient human populations by approaches of evolutionary genetics. This study has reviewed main principles of the archaeogenetic analysis and the current trends of ancient genome studies with recent achievements. While sampling techniques and statistical analyses have been improved, typical research methods have been established by the findings on hominins and ancient western Eurasia populations. Recently, archaeogenecists have been applying the methods to studying those in other geographical areas. Nonetheless, there is still the lack of ancient genome research about populations in Eastern Asia including the Korean peninsula. This review ultimately aims to predict possibilities and promise of future ancient genome studies of ancient Korean populations.

• Korean Journal of Poultry Science
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• v.37 no.3
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• pp.275-282
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• 2010

Chicken is an important livestock as a valuable biomedical model as well as food for human, and there is a strong rationale for improving our understanding on metabolism and physiology of this organism. The first draft of chicken genome assembly was released in 2004, which enables elaboration on the linkage between genetic and metabolic traits of chicken. The objectives of this study were thus to reconstruct metabolic pathway of the chicken genome and to construct a chicken specific pathway genome database (PGDB). We developed a comprehensive genome database for chicken by integrating all the known annotations for chicken genes and proteins using a pipeline written in Perl. Based on the comprehensive genome annotations, metabolic pathways of the chicken genome were reconstructed using the PathoLogic algorithm in Pathway Tools software. We identified a total of 212 metabolic pathways, 2,709 enzymes, 71 transporters, 1,698 enzymatic reactions, 8 transport reactions, and 1,360 compounds in the current chicken genome build, Gallus_gallus-2.1. Comparative metabolic analysis with the human, mouse and cattle genomes revealed that core metabolic pathways are highly conserved in the chicken genome. It was indicated the quality of assembly and annotations of the chicken genome need to be improved and more researches are required for improving our understanding on function of genes and metabolic pathways of avian species. We conclude that the chicken PGDB is useful for studies on avian and chicken metabolism and provides a platform for comparative genomic and metabolic analysis of animal biology and biomedicine.

• Journal of Life Science
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• v.10 no.2
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• pp.12-13
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• 2000

A human-specific retroposon SINE-R.C2 has been derived from a human endogenous retrovirus HER V-K 10. It is absent in the genome of nonhuman primates and present within the third intron of the human C2 gene that is located in the class III region of the major histocompatibility complex. In the present study, we determined the regional location of the human C2 gene. The analysis of the Genebridge 4 radiation hybrid mapping panel using PCR amplification located the C2 gene between D6S1422 (10.1 cR) and CHLC.GATA4A03 (21.3) with a lod score of>3.0. This allowed us to localize C2 gene on the human chromosome 6 band p21.31.

• 한국생물공학회:학술대회논문집
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• 2000.04a
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• pp.588-591
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• 2000

Serine palmitoyl transferase(SPT) and ceramidase are the key enzymes in sphingolipid biosynthesis. To study sphingolipid metabolism, we have got the 5'-upstream regions of human serine palmitoyl transferase subunit II and acid ceramidase gene by using GenomeWalker kits(Clontech Co.). Human genomic DNA was purified from HT29, human colon canser cell line by using DNAzol. We got several bands after secondary PCR and subcloned them to T7bule vector. Human SPTII promoter which we got was 2690bp but we cut it with Bgl II and vector with Bgl II and BamH I, and subcloned 1782bp to pGL2-enhancer vector and pGL2-basic vector with luciferase reporter gene. Human acid ceramidase promoter which we got were 2028bp and 1034bp and subcloned to pGL2-enhancer vector and pGL2-basic vector. We transfected these promoters to HT29 cell and assayed luciferase activity. For measuring transfection efficiency, pRL-TK vector with seapancy luciferase reproter gene was cotransfected with these promoters.

• Nutrition Research and Practice
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• v.17 no.4
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• pp.789-802
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• 2023

BACKGROUND/OBJECTIVES: Habitual coffee consumption was inversely associated with type 2 diabetes (T2D) and hyperglycemia in observational studies, but the causality of the association remains uncertain. This study tested a causal association of genetically predicted coffee consumption with T2D using the Mendelian randomization (MR) method. SUBJECTS/METHODS: We used five single-nucleotide polymorphisms (SNPs) as instrumental variables (IVs) associated with habitual coffee consumption in a previous genome-wide association study among Koreans. We analyzed the associations between IVs and T2D, fasting blood glucose (FBG), 2h-postprandial glucose (2h-PG), and glycated haemoglobin (HbA1C) levels. The MR results were further evaluated by standard sensitivity tests for possible pleiotropism. RESULTS: MR analysis revealed that increased genetically predicted coffee consumption was associated with a reduced prevalence of T2D; ORs per one-unit increment of log-transformed cup per day of coffee consumption ranged from 0.75 (0.62-0.90) for the weighted mode-based method to 0.79 (0.62-0.99) for Wald ratio estimator. We also used the inverse-variance-weighted method, weighted median-based method, MR-Egger method, and MR-PRESSO method. Similarly, genetically predicted coffee consumption was inversely associated with FBG and 2h-PG levels but not with HbA1c. Sensitivity measures gave similar results without evidence of pleiotropy. CONCLUSIONS: A genetic predisposition to habitual coffee consumption was inversely associated with T2D prevalence and lower levels of FBG and 2h-PG profiles. Our study warrants further exploration.

• Biomolecules & Therapeutics
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• v.18 no.4
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• pp.411-419
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• 2010

Korean mistletoe has a variety of biological effects, such as immunoadjuvant activities. This study investigates the effects of Korean mistletoe lectin (Viscum album L. var. coloratum agglutinin, VCA) on human T lymphocytes to determine whether VCA acts as an immunomodulator. Purified human T-lymphocytes were cultured with VCA and RNA from each point was analyzed using Affymetrix human genome chips containing 22,500 probe sets which represents more than 18,000 transcripts derived from 14,500 human genes. As a result, there was a striking upregulation of genes coding for chemokines. Seventeen genes out of 50 coding for proteins with chemokine activity were upregulated including CXCL9 and IL-8 which are related to the treatment of cancer. In addition, 28 cytokine genes were upregulated including IL-1, IL-6, IL-8, IFN-$\gamma$, and TNF-$\alpha$. Taken together, the data suggest that Korean mistletoe lectin, in parallel with European mistletoe, has an ability to modulate human T cell function.

• Genomics & Informatics
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• v.10 no.4
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• pp.214-219
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• 2012

The recent advent of next-generation sequencing technologies has dramatically changed the nature of biomedical research. Human genetics is no exception－it has never been easier to interrogate human patient genomes at the nucleotide level to identify disease-associated variants. To further facilitate the efficiency of this approach, whole exome sequencing (WES) was first developed in 2009. Over the past three years, multiple groups have demonstrated the power of WES through robust disease-associated variant discoveries across a diverse spectrum of human diseases. Here, we review the application of WES to different types of inherited human diseases and discuss analytical challenges and possible solutions, with the aim of providing a practical guide for the effective use of this technology.

• Genomics & Informatics
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• v.15 no.3
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• pp.108-111
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• 2017

Recently developed computational methods allow the imputation of human leukocyte antigen (HLA) genes using intergenic single nucleotide polymorphism markers. To improve the imputation accuracy in HLA imputation, it is essential to increase the sample size and the diversity of alleles in the reference panel. Our software, MergeReference, helps achieve this goal by providing a streamlined pipeline for combining multiple reference panels into one.

• Asian-Australasian Journal of Animal Sciences
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• v.23 no.11
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• pp.1399-1404
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• 2010

We have created a Bovine Genome Database, an integrated genomic resource for Bos taurus, by merging bovine data from various databases and our own data. We produced 55,213 Korean cattle (Hanwoo) ESTs from cDNA libraries from three tissues. We concentrated on genomic information based on Hanwoo transcripts and provided user-friendly search interfaces within the Bovine Genome Database. The genome browser supported alignment results for the various types of data: Hanwoo EST, consensus sequence, human gene, and predicted bovine genes. The database also provides transcript data information, gene annotation, genomic location, sequence and tissue distribution. Users can also explore bovine disease genes based on comparative mapping of homologous genes and can conduct searches centered on genes within user-selected quantitative trait loci (QTL) regions. The Bovine Genome Database can be accessed at http://bgd.nabc.go.kr.