• Clinical and Experimental Pediatrics
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• v.61 no.12
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• pp.403-406
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• 2018

Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set ears, wide nose with narrow nasal bridge, short philtrum, long thin lips, clinodactyly, and developmental delay that was transferred to our pediatric clinic for genetic evaluation. He showed progressive delay in the area of language and cognition-adaption as he grew. He had previously undergone chromosomal analysis at another hospital due to his language delay, but his karyotype was normal. We performed targeted exome sequencing, considering several syndromes with similar phenotypes. Library preparation was performed with the TruSight One sequencing panel, which enriches the sample for about 4,800 genes of clinical relevance. Massively parallel sequencing was conducted with NextSeq. An identified variant was confirmed by Sanger sequencing of the patient and his parents. Finally, the patient was confirmed as the first Korean case of Floating-Harbor syndrome with a novel SRCAP (Snf2 related CREBBP activator protein) mutation (c.7732dupT, p.Ser2578Phefs*6), resulting in early termination of the protein; it was not found in either of his healthy parents or a control population. To our knowledge, this is the first study to describe a boy with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing in Korea.

• Animal Bioscience
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• v.34 no.6
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• pp.993-1005
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• 2021

Objective: Zearalenone (ZEA) has estrogen-like effects. Our previous study has shown that ZEA (0.5 to 1.5 mg/kg) could induce abnormal uterine proliferation through transforming growth factor signaling pathway. To further study the other regulatory networks of uterine hypertrophy caused by ZEA, the potential mechanism of ZEA on porcine endometrial epithelial cells (PECs) was explored by the Illumina Hiseq 2000 sequencing system. Methods: The PECs were treated with ZEA at 0 (ZEA0), 5 (ZEA5), 20 (ZEA20), and 80 (ZEA80) µmol/L for 24 h. The collected cells were subjected to cell cycle, RNA-seq, real-time quantitative polymerase chain reaction, immunofluorescence, and western blot analysis. Results: The proportion of cells in the S and G2 phases decreased (p<0.05), but the proportion of cells in the G1 phase increased (p<0.05) in the ZEA80 treatment. Data analysis revealed that the expression of Wnt pathway-related genes, estrogen-related genes, and mitogen-activated protein kinase pathway-related genes increased (p<0.05), but the expression of genetic stability genes decreased (p<0.05) with increasing ZEA concentrations. The relative mRNA and protein expression of WNT1, β-catenin, glycogen synthase kinase 3β (GSK-3β) were increased (p<0.05) with ZEA increasing, while the relative mRNA and protein expression of cyclin D1 (CCND1) was decreased (p<0.05). Moreover, our immunofluorescence results indicate that β-catenin accumulated around the nucleus from the cell membrane and cytoplasm with increasing ZEA concentrations. Conclusion: In summary, ZEA can activate the Wnt/β-catenin signaling pathway by up-regulating WNT1 and β-catenin expression, to promote the proliferation and development of PECs. At the same time, the up-regulation of GSK-3β and down-regulation of CCND1, as well as the mRNA expression of other pathway related genes indicated that other potential effects of ZEA on the uterine development need further study.

• Proceedings of the Plant Resources Society of Korea Conference
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• 2022.09a
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• pp.36-36
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• 2022

The molecular understanding of resistance and susceptibility of host plants to scab, a most threatful disease to pome fruit production worldwide, is very limited. Comparing resistant line '93-3-98' to susceptible one 'Sweet Skin' at seven time points of 0, 0.5, 1, 2, 3, 4, 8 days post inoculation, RNA-sequencing data derived from infected and mock-inoculated young leaves were analyzed to evaluate the tolerant response and to mine candidate genes of pear to the scab pathogen Venturia nashicola. Analysis of the mapped reads showed that the infection of V. nashicola led to significant differential expression of 17,827 transcripts with more than 3-fold change in the seven pairs of libraries, of which 9,672 (54%) are up- and 8,155(46%) are down-regulated. These included mainly receptor (NB-ARC domains-containing, CC-NBS-LRR, TIR-NBS-LRR, seven transmembrane MLO family protein) and transcription factor (ethylene responsive element binding, WRKY DNA-binding protein) related gene. An arsenal of defense response of highly resistant pear accessions derived from European pear was probably supposed no sooner had V. nashicola infected its host than host genes related to disease suppression like Polyketide cyclase/dehydrase and lipid transport protein, WRKY family transcription factor, lectin protein kinase, cystein-rich RLK, calcium-dependent phospholipid-binding copine protein were greatly boosted and eradicated cascade reaction induced by pathogen within 24 hours. To identify transcripts specifically expressed in response to V. nashicola, RT-PCRs were conducted and compare to the expression patterns of seven cultivars with a range of highly resistant to highly susceptible symptom. A DEG belonging to the PR protein family genes that were higher expressed in response to V. nashicola suggesting extraordinary role in the resistance response were led to the identification. This study provides the first transcriptional profile by RNA-seq of the host plant during scab disease and insights into the response of tolerant pear plants to V. nashicola.

• Animal Bioscience
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• v.37 no.2
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• pp.193-202
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• 2024

Objective: Oxidative stress (OS) is a pathological process arising from the excessive production of free radicals in the body. It has the potential to alter animal gene expression and cause damage to the jejunum. However, there have been few reports of changes in the expression of long noncoding RNAs (lncRNAs) in the jejunum in piglets under OS. The purpose of this research was to examine how lncRNAs in piglet jejunum change under OS. Methods: The abdominal cavities of piglets were injected with diquat (DQ) to produce OS. Raw reads were downloaded from the SRA database. RNA-seq was utilized to study the expression of lncRNAs in piglets under OS. Additionally, six randomly selected lncRNAs were verified using quantitative real-time polymerase chain reaction (qRT-PCR) to examine the mechanism of oxidative damage. Results: A total of 79 lncRNAs were differentially expressed (DE) in the treatment group compared to the negative control group. The target genes of DE lncRNAs were enriched in gene ontology (GO) terms and Kyoto encyclopedia of genes and genomes (KEGG) signaling pathways. Chemical carcinogenesis-reactive oxygen species, the Foxo signaling pathway, colorectal cancer, and the AMPK signaling pathway were all linked to OS. Conclusion: Our results demonstrated that DQ-induced OS causes differential expression of lncRNAs, laying the groundwork for future research into the processes involved in the jejunum's response to OS.

• Animal Bioscience
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• v.37 no.1
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• pp.28-38
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• 2024

Objective: Tibetan chickens, which have unique adaptations to extreme high-altitude environments, exhibit phenotypic and physiological characteristics that are distinct from those of lowland chickens. However, the mechanisms underlying hypoxic adaptation in the liver of chickens remain unknown. Methods: RNA-sequencing (RNA-Seq) technology was used to assess the differentially expressed genes (DEGs) involved in hypoxia adaptation in highland chickens (native Tibetan chicken [HT]) and lowland chickens (Langshan chicken [LS], Beijing You chicken [BJ], Qingyuan Partridge chicken [QY], and Chahua chicken [CH]). Results: A total of 352 co-DEGs were specifically screened between HT and four native lowland chicken breeds. Gene ontology and Kyoto encyclopedia of genes and genomes enrichment analyses indicated that these co-DEGs were widely involved in lipid metabolism processes, such as the peroxisome proliferator-activated receptors (PPAR) signaling pathway, fatty acid degradation, fatty acid metabolism and fatty acid biosynthesis. To further determine the relationship from the 352 co-DEGs, protein-protein interaction network was carried out and identified eight genes (ACSL1, CPT1A, ACOX1, PPARC1A, SCD, ACSBG2, ACACA, and FASN) as the potential regulating genes that are responsible for the altitude difference between the HT and other four lowland chicken breeds. Conclusion: This study provides novel insights into the molecular mechanisms regulating hypoxia adaptation via lipid metabolism in Tibetan chickens and other highland animals.

• Journal of the Korean Applied Science and Technology
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• v.36 no.1
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• pp.1-12
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• 2019

After making tea by steaming the Artichoke(Hellanthus tuberosus) nine times and drying them nine times, the ingredients and functions of the Artichoke tea were compared to those of M. It had 342.27kcal/100g in its own deloped Artichoke tea, 73.87g/100g of carbohydrates, 6.80g/100g of crude ash and 8.21g/100g of crude protein. The total of free sugars were 32.66mg/100, among them, fructose 17.40, sucrose 9.03 and glucose 6.05 mg/100g. The total mineral contents of the developed tea was 2,785.67mg/100g. It was 2,563.93mg/100g of potassium, 97.52mg/100g of calcium and 88.78mg/100g of magnesium. The saturated fat of Artichoke tea was 30.34mg/100g and unsaturated fat was 69.66mg/100g, among which the linoleic acid was 47.0mg/100%, palmitic acid was 25.31mg/100% and linolenic acid was 8.61mg/100g. DPPH radical scavenging was 34.2% of teas that were developed, 5.2% of M's for comparison, and 44.0% of index materials. ABTS radical scavenging was 93.0% of teas developed, 61.9% of M's tea and 47.6% of index materials, and SOD like activity was 2.7% of teas developed and 1.6% of M's tea. The flavonoid content was 2.8 fold of the tea developed, 2.0 fold of M's tea and 1.7 fold of index material. The polyphenol content was 38.2 fold, 8.92 fold of M's tea and 14.0 fold of index material. The inhibition rate for ${\alpha}$-glucosidase was 9.83% teas developed and 8.92% of M's. The sensory evaluation compares to the one time extract and the five time extract. Based on the one-time extract, color of tea developed was 83.7%, the M's tea was 50.0%, the flavor was 78%, M's tea was 42.5%, the delicate taste was 66.7% of teas developed and M's tea was 37.5% and the overall acceptability was 73.3% of teas developed, M's tea was 47.5%. The comparison of M's tea showed that the extract decreased as we made it, and the overall symbol level decreased to 46.3% after five time-extyracts, while that of the developed tea decreased to 73.3%. The Artichoke tea developed this way is believed to have greater antioxidant function, higher effective substance content, and a higher affinity than M's tea an index material for comparison purposes.

• Journal of the Korean Applied Science and Technology
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• v.36 no.1
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• pp.23-33
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• 2019

After making tea by steaming the Burdock(Arctium lappa) nine times and drying it nine times, the ingredients and functions of the Burdock tea were compared to those of M company. The tea's calories were 346.48kcal/100g, carbohydrates were 72.75g/100g, crude protein was 11.98g/100g, and crude ash was 5.01g/100g. The total of free sugars were 31.93mg/100, among them, fructose was 26.27, sucrose was 1.27 mg/100g. The inorganic material contents were 1,476.21mg/100g of potassium, 255.96 mg/100g of calcium and 311.41 mg/100g of magnesium. The saturated fatty acids were 40.73mg/100g and the unsaturated fatty acids were 59.27mg/100g, among which the linoleic acid was 41.28mg/100g, the palmitic acid was 33.11mg/100g, the oleic acid was 10.07mg/100g and linolenic acid was 7.92mg/100g. DPPH radical scavenging was 33.9% of teas that were developed, 2.3% of M's tea for comparison, and 37.2% of indiex material. ABTS radical scavenging were 90.7% of teas developed, 85.9% of M's tea and 37.2% of index materials, and SOD like activities were 11.3% of teas developed and 50.5% of M's teas. The flavonoid content was 2.6 fold of the tea developed, 2.9 fold of M's tea and 1.7 fold of index material. The polyphenol content was 33.8 fold of teas developed, 38.9 fold of the M's tea and 13.8 fold of the index material. The sensory evaluation compare to the one-time extract and the five-time extract. Based on the one-time extract, the color were 65.9 % of the five-time extract tea were developed, 12.8 % of the M's tea. Flavour were 78.0% of the tea developed and 33.3% of the M's tea, tastes were 71.4% of the tea developed, 20.7% of the M's tea. The cart for comparison showed that while the extract decreased as we developed it, the overall symbolism decreased to 21.4% after five time extracts, the developed tea decreased to 72.1%. We believe that the developed tea will have a greater effect on preventing and improving diseases as it has a stronger antioxidant function, more effective substances, and a higher level of symbolism than the comparative M squared tea and surface substance.

• Korean Journal of Ichthyology
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• v.35 no.4
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• pp.224-235
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• 2023

South Korea is the only divided nation globally, marked by a military demarcation line establishing demilitarized and civilian control zones, ensuring national security. Consequently, these areas exhibit relatively minimal ecological disruption compared to other regions. However, the threat to safety persists due to the presence of unexploded ordnances and landmines, imposing significant constraints on ecological research. To address this, we conducted a comparative study utilizing eDNA analysis as a supplementary and alternative approach within three points of the "Road of Peace" - Inje, Yanggu, and Hwacheon courses, located within the civilian control zone. Direct surveys and indirect eDNA sampling were carried out in May, July, and September of 2022. Genetic material obtained from the samples underwent amplification, library preparation, MiSeq sequencing, and subsequent ASV generation for indirect analysis. These results were then compared with the findings of direct surveys. Our findings revealed the detection of eDNA for both observed species at the Yanggu-1 point, and for two out of four species at Yanggu-2. Hwacheon-1 displayed the detection of eDNA for one out of one observed species, whereas Hwacheon-2 yielded seven out of twelve, Hwacheon-3 showed four out of six, and all one observed species at Hwacheon-4 exhibited eDNA detection. Consequently, approximately 69% of the fish species identified through direct surveys were confirmed by indirect eDNA analysis. It is necessary to verify if certain fish species, such as the continental trout and catfish, have genetic information registered in the NCBI database. Additionally, it is believed that further marker development research utilizing different genetic sequences is essential. Given the limitations imposed by the hazardous nature of the surveyed civilian control zone, eDNA analysis proves to be a suitable supplement for fish research in the area.

• Journal of The Korean Society of Grassland and Forage Science
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• v.38 no.2
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• pp.106-111
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• 2018

This study was conducted to investigate the relationship between changes of rumen microflora and bloat in Jersey cow. Jersey cows (control age: 42 months, control weight: 558kg; treatment age: 29 months, treatment weight 507kg) were fed on the basis of dairy feeding management at dairy science division in National Institute of Animal Science. The change of microbial population in rumen was analyzed by using next generation sequencing (NGS) technologies due to metabolic disease. The diversity of Ruminococcus bromii, Bifidobacterium pseudolongum, Bifidobacterium merycicum and Butyrivibrio fibrisolvens known as major starch fermenting bacteria was increased more than 36-fold in bloated Jersey, while cellulolytic bacteria community such as Fibrobacter succinogenes, Ruminococcus albus and Ruminococcus flavefaciens was increased more than 12-fold in non-bloated Jersey. The proportion of bacteroidetes and firmicutes was 33.4% and 39.6% in non-bloated Jersey's rumen, while bacteroidetes and firmicutes were 24.9% and 55.1% in bloated Jersey's. In conclusion, the change of rumen microbial community, in particular the increase in starch fermenting bacteria, might have an effect to occur the bloat in Jersey cow.