• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.2
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• pp.104-107
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• 2012

Alpha-methylacetoacetic aciduria is a rare inborn metabolic disorder, caused by acetyl-CoA acetyltransferase-1 deficiency. This enzyme acts on the last step of isoleucine metabolism. It dissociates 2-Methyl-3-Hydroxybutyryl-CoA into propionyl-CoA and acetyl-CoA. ACAT1 is the causative gene. Most patients manifest recurrent ketotic metabolic acidosis, but some patients can be identified in their presymptomatic period by newborn screening. Urinary organic acid profile is characterized by increased amounts of 2-Methyl-3-Hydroxybutyric acid, tiglylglycine, and 2-methyl acetoacetic acid. In this report, a Korean patient with alpha-methylacetoacetic aciduria is described. This is the first Korean case report confirmed by genetic testing.

• Animal cells and systems
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• v.10 no.4
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• pp.227-231
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• 2006

Micro-deletions at specific loci of the Y chromosome have been observed frequently in male infertility patients, suggesting that genes in these regions are involved in male germ cell development. DAZ is a representative male infertility gene at the AZFc locus of the Y chromosome. Since DAZ contains an RNA binding motif along with so-called a DAZ domain, it was proposed to participate in RNA metabolism during spermatogenesis. A mouse gene homologous to the human DAZ gene has been cloned and named Dazl (DAZlike). Dazl is autosomal and expressed in the testis and also at a low level in the ovary. Male mice homozygous for the Dazl null allele have small testes with a few spermatogonia and almost complete absence of germ cells beyond the spermatogonial stage, suggesting the requirement of Dazl for entry or progression through meiosis. However, its exact cellular functions have not been understood yet. In order to investigate cellular functions of Dazl, we decided to isolate candidate interacting protein genes of the mouse Dazl, using yeast two-hybrid screening. A number of candidate Dazlinteracting proteins have been isolated, such as Bprp, Acf, Hgs, Murr1, Nbak3 and Ranbp9, but dynein light chain 1 (Dlc1) was most predominant. A strong interaction of Dazl with Dlc1 suggests that Dazl might function as an mRNA adaptor to the dynein motor complex.

• The Plant Pathology Journal
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• v.36 no.6
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• pp.558-569
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• 2020

Fusarium head blight (FHB) is a devastating fungal disease of wheat (Triticum aestivum L.). The lack of genetic resources with stable FHB resistance combined with a reliable and rapid screening method to evaluate FHB resistance is a major limitation to the development of FHB resistant wheat germplasm. The present study utilized an immature wheat spike culture method to screen wheat spike culture derived variants (SCDV) for FHB resistance. Mycotoxin concentrations determined by liquid chromatography-tandem mass spectrometry (LC-MS/MS) correlated significantly (P < 0.01) with FHB severity and disease progression during in vitro spike culture. Selected SCDV lines assessed for FHB resistance in a Fusarium field disease nursery in Carman, Manitoba, Canada in 2016 showed significant (P < 0.01) correlation of disease severity to the in vitro spike culture screening method. Selected resistant SCDV lines were also crossed with an elite cv. CDC Hughes and the progeny of F₂ and BC₁F₂ were screened by high resolution melt curve (HRM) analyses for the wheat UDP-glucosyl transferase gene (TaUGT-3B) single nucleotide polymorphism to identify resistant (T-allele) and susceptible (G-allele) markers. The progeny from the crosses were also screened for FHB severity using the immature spike culture method and identified resistant progeny grouped according to the HRM genotyping data. The results demonstrate a reliable approach using the immature spike culture to screen for FHB resistance in progeny of crosses in early stage of breeding programs.

• Journal of Lipid and Atherosclerosis
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• v.7 no.2
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• pp.122-154
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• 2018

Familial hypercholesterolemia (FH) is typically associated with single gene mutation that is inherited by autosomal dominant manner. Due to high cardiovascular risk, aggressive discovery, diagnosis, and treatment of FH are critical. Although FH is being increasingly spotlighted, we do not have sufficient data on Korean patients with FH. Here, we present the content of symposium of the Education Committee, Korean Society of Lipid and Atherosclerosis held in May 2018: 1) epidemiology, clinical diagnosis, Korean FH data, and regulation in Korea; 2) genes associated with FH, sequencing process in suspicious proband, cascade screening, and difficulty in genetic diagnosis in FH; 3) the importance of lipid-lowering therapy in FH, conventional and novel therapeutics for FH; 4) diagnosis of FH in children and adolescence, screening, and treatment of FH in children and adolescence; 5) history of FH studies in Korea, the structure and current status of FH registry of Korean Society of Lipid and Atherosclerosis; and 6) difficulty in diagnosis of heterozygous and homozygous FH, drug intolerance and achievement of treatment target. Discussion between speakers and panels were also added. We hope that this article is helpful for understanding FH and future studies performed in Korea.

• Asian-Australasian Journal of Animal Sciences
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• v.26 no.12
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• pp.1665-1671
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• 2013

Real-time quantitative PCR (qRT-PCR) is one of the important methods for investigating the changes in mRNA expression levels in cells and tissues. Selection of the proper reference genes is very important when calibrating the results of real-time quantitative PCR. Studies on the selection of reference genes in goat tissues are limited, despite the economic importance of their meat and dairy products. We used real-time quantitative PCR to detect the expression levels of eight reference gene candidates (18S, TBP, HMBS, YWHAZ, ACTB, HPRT1, GAPDH and EEF1A2) in ten tissues types sourced from Boer goats. The optimal reference gene combination was selected according to the results determined by geNorm, NormFinder and Bestkeeper software packages. The analyses showed that tissue is an important variability factor in genes expression stability. When all tissues were considered, 18S, TBP and HMBS is the optimal reference combination for calibrating quantitative PCR analysis of gene expression from goat tissues. Dividing data set by tissues, ACTB was the most stable in stomach, small intestine and ovary, 18S in heart and spleen, HMBS in uterus and lung, TBP in liver, HPRT1 in kidney and GAPDH in muscle. Overall, this study provided valuable information about the goat reference genes that can be used in order to perform a proper normalisation when relative quantification by qRT-PCR studies is undertaken.

• Journal of the Korean Society of Food Science and Nutrition
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• v.34 no.8
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• pp.1136-1142
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• 2005

To develop new anti-aging foods or cosmetics by using antioxidants, SOD activator and elastase inhibitor, both potent anti-aging substances, were screened from various extracts of medicinal Plants and its optimal extraction conditions were investigated. Antioxidant activity has showed the highest in methanol extracts of Prunus persica (seed; 98.0$\%$). Methanol extracts of Morus alba (leave; 41.0$\%$) showed the highest elastase inhibitory activity while Lycium chinense (fruit; 197$\%$) showed the highest activation effect in SOD activity. The Prunus persica extract that exhibited the highest activity was extracted by treatment of Prunus persica powder with methanol at 40$^{\circ}C$ for 18 h and the SOD activity was maximum with extract from Lycium chinense extracted with deionized water at 30$^{\circ}C$ for 12 h. Elastase inhibitory activity of Morus alba was maximally extracted when it was treated with 70$\%$ methanol at 50$^{\circ}C$ for 12 h.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.133-137
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• 2010

Purpose: Beckwith-Wiedemann syndrome (BWS) is an overgrowth malformation syndrome caused by a methylation abnormality at chromosome 11p15, consisting of two imprinting centers, BWSIC1 (IGF2, H19) and BWSIC2 (LIT1, KvDMR). This study evaluated the applicability of a methylation-specific (MS) PCR RFLP method for the genetic diagnosis of BWS. Materials and Methods: A total of 12 patients were recruited based on clinical findings. Karyotyping was performed using peripheral blood leukocytes, and genomic DNA was treated with bisulfate and amplified using methylation-specific primers. RFLP was conducted with restriction enzymes in differentially methylated regions of LIT1, H19, and IGF2. Results: The 12 BWS patients had normal karyotypes. Abnormal methylation patterns in the BWSIC2 (LIT1) region were identified in seven patients (58.3%) using the MS-PCR RFLP method. Conclusions: The MS-PCR RFLP method is a simple, economical genetic test. It detected genetic abnormalities in 50-60% of BWS patients, suggesting that it can be used as a screening test. A more precise method is required, however, to enhance the detection rate of genetic abnormalities, especially in BWSIC1 region.

• Animal Bioscience
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• v.36 no.1
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• pp.144-155
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• 2023

Objective: Adipocyte differentiation is regulated by a variety of functional genes and noncoding RNAs. However, the role of miRNAs in lipid deposition of goat white adipose tissue is still unclear. Therefore, this study revealed the miRNA expression profile in goat subcutaneous adipocytes by sRNA-seq. Methods: The miRNA expressed in goat subcutaneous preadipocytes and the mature adipocytes were sequenced by sRNA-seq. The differentially expressed miRNAs (DEm) were screened and gene ontology (GO) and Kyoto encyclopedia for genes and genomes (KEGG) analyses were performed. Gain-of-function and loss-of-function combined with oil red O staining, Bodipy staining, and quantitative reverse-transcription polymerase chain reaction (qPCR) were utilized to determine the effect of miR-133a-3p on adipocyte differentiation. Results: A total of 218 DEm were screened out. The target genes of these DEm were significantly enriched in GO items such as biological regulation and in KEGG terms such as FAK signaling pathway and MAPK signaling pathway. qPCR verified that the expression trend of miRNA was consistent with miRNA-seq. The gain-of-function or loss-of-function of miR-133a-3p showed that it promoted or inhibited the accumulation of lipid droplets, and CCAAT enhancer binding protein α (C/EBPα) and C/EBPβ were extremely significantly up-regulated or down-regulated respectively (p<0.01), the loss-of-function also led to a significant down-regulation of peroxisome proliferator activated receptor gamma (PPARγ) (p<0.01). Conclusion: This study successfully identified miRNAs expression patterns in goat subcutaneous adipocytes, and functional identification indicates that miR-133a-3p is a positive regulator of the differentiation process of goat subcutaneous adipocytes. Our results lay the foundation for the molecular mechanism of lipid deposition in meat-source goats from the perspective of miRNA.

• Korean Journal of Environmental Biology
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• v.40 no.4
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• pp.433-441
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• 2022

Bacterial phytopathogen Pectobacterium causes soft rot disease in several vegetable crops globally, resulting in heavy agricultural losses at both the pre and postharvest stages. The present work was carried out to screen Kimchi cabbage genetic resources conserved at the National Agrobiodiversity Center, Rural Development Administration, Korea, for resistance against the soft rot pathogen Pectobacterium carotovorum subsp. carotovorum KACC 21701 over a period of three years (from 2020 to 2022). Infection of the phytopathogen was carried out at four-leaf stage and for each accession, twenty-five plants per germplasm were infected with KACC 21701. Kimchi cabbage cultivars Wangmatbaechu, Seoulbaechu, and CR Kiyoshi were used as control. Seven-days post-infection, the Disease Index (DI) values were manually recorded from zero to four, zero matched perfectly heathy plants and four completely dead plants. The 682 accessions of Kimchi cabbage exhibited varying degrees of disease resistance to KACC 21701 and thirty accessions, exhibiting a DI≤2, were considered for replication studies. During the replication studies, four landrace germplasms (IT102883, IT120036, IT120044, and IT120048) and one cultivar(IT187919) were confirmed to be moderately susceptible to KACC 21701. Results of the preliminary screening as well as replication studies were documented for the all the 682 germplasms. Addition of such information to the passport data of stored germplasms might serve as potential bio-resource for future breeders and researchers to develop resistant varieties or study the mechanisms involved in resistance of plants to such phytopathogen.

• Korean Journal of Ecology and Environment
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• v.56 no.3
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• pp.250-258
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• 2023

Freshwater jellyfish, a type of jellyfish exclusively found in freshwater, has a limited number of species but is found globally. However, their ecology and causes of occurrence are largely unknown. Therefore, understanding the distribution of polyps, which produce the larvae of freshwater jellyfish, can provide important data for comprehending their ecology. This study aims to explore the COI gene of freshwater jellyfish using environmental DNA from the microbial film in the Miho River system. Among the 12 survey points in the Miho River watershed, genetic material of freshwater jellyfish was detected in 8 points, mainly located upstream near reservoirs. These genetic materials were identified as genes of the well-known freshwater jellyfish species, Craspedacusta sowerbii. Notably, the C. sowerbii genes found in the Miho River watershed survey points were closely related to a species previously discovered in Italy. Consequently, utilizing environmental DNA to explore the genetic traces of freshwater jellyfish enables rapid screening of areas with a high likelihood of freshwater jellyfish occurrence. This approach is deemed to provide crucial information for understanding the distribution and ecology of freshwater jellyfish in Korea.