Whole-genome resequencing analysis of 20 Micro-pigs

Da‑Hye Son,Nam‑Hyun Hwang,Won‑Hyong Chung,Ha‑Seung Seong,Hyungbum Lim,Eun‑Seok Cho,Jung‑Woo Choi,Kyung‑Soo Kang,Yong‑Min Kim 한국유전학회 2020 Genes & Genomics Vol.42 No.3

Background Miniature pigs have been increasingly used as mammalian model animals for biomedical research because of their similarity to human beings in terms of their metabolic features and proportional organ sizes. However, despite their importance, there is a severe lack of genome-wide studies on miniature pigs. Objective In this study, we performed whole-genome sequencing analysis of 20 Micro-pigs obtained from Medi Kinetics to elucidate their genomic characteristics. Results Approximately 595 gigabase pairs (Gb) of sequence reads were generated to be mapped to the swine reference genome assembly (Sus scrofa 10.2); on average, the sequence reads covered 99.15% of the reference genome at an average of 9.6-fold coverage. We detected a total of 19,518,548 SNPs, of which 8.7% were found to be novel. With further annotation of all of the SNPs, we retrieved 144,507 nonsynonymous SNPs (nsSNPs); of these, 5968 were found in all 20 individuals used in this study. SIFT prediction for these SNPs identified that 812 nsSNPs in 402 genes were deleterious. Among these 402 genes, we identified some genes that could potentially affect traits of interest in Micro-pigs, such as RHEB and FRAS1. Furthermore, we performed runs of homozygosity analysis to locate potential selection signatures in the genome, detecting several loci that might be involved in phenotypic characteristics in Micro-pigs, such as MSTN, GDF5, and GDF11. Conclusion In this study, we identified numerous nsSNPs that could be used as candidate genetic markers with involvement in traits of interest. Furthermore, we detected putative selection footprints that might be associated with recent selection applied to miniature pigs.

Rhus vemicilua Extract, Histologic Changes in Subchondral Bone and Articular Cartilageof Mono-iodoacetate Induced Arthritis Rat Model

Da-Eun Nam,Jin-Nyoung Ho,Ok Kyung Kim,Jeongmin Lee 한국식품영양과학회 2012 한국식품영양과학회 학술대회발표집 Vol.2012 No.10

Facile, air-insensitive solvothermal synthesis of emission-tunable CuInS₂/ZnS quantum dots with high quantum yields

Nam, Da-Eun,Song, Woo-Seuk,Yang, Heesun Royal Society of Chemistry 2011 Journal of materials chemistry Vol.21 No.45

<P>Yellow-to-red emitting CuInS<SUB>2</SUB>/ZnS (CIS/ZnS) core/shell quantum dots (QDs) with a maximum photoluminescence quantum yield (QY) of ∼65% were facilely synthesized <I>via</I> a stepwise, consecutive solvothermal approach. The size-sorting experiments on CIS/ZnS QDs indicated that the ZnS shell was formed with a relatively uniform thickness even though the size of pre-existing CIS core QDs was not monodisperse. CIS core QDs solvothermally grown for different reaction times of 5–6 h exhibited poor QYs of <8.8% with deep red emissions as a result of donor–acceptor pair (DAP) recombination. Upon shell overcoating, the band gap energies of CIS/ZnS QDs increased by 0.14–0.23 eV, depending on the CIS core growth time. Such increased band gaps were attributed presumably to the reduction of actual CIS core size, originating from the formation of the alloyed interfacial layer at CIS/ZnS during a long shell growth. Compared to CIS core QDs, the emission of CIS/ZnS QDs was markedly blue-shifted by 0.10–0.18 eV. This blue-shift was discussed based on the shift of QD band gap-dependent donor/acceptor energy levels and the donor–acceptor distance-dependent DAP recombination process.</P> <P>Graphic Abstract</P><P>Highly fluorescent, emission-tunable CuInS<SUB>2</SUB>/ZnS core/shell quantum dots were synthesized by a facile, air-insensitive solvothermal route. <IMG SRC='http://pubs.rsc.org/services/images/RSCpubs.ePlatform.Service.FreeContent.ImageService.svc/ImageService/image/GA?id=c1jm12437d'> </P>

Effect of Boswellia Serrata Extracts on Degenerative Osteoarthritis in vitro and in vivo model

Da-Eun Nam,Ok Kyung Kim,Tae Jin Shim,Ji Hoon Kim,Jeongmin Lee 한국식품영양과학회 2014 한국식품영양과학회 학술대회발표집 Vol.2014 No.10

Axonal Charcot‐Marie‐Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3′ UTR in <i>NEFH</i>

Nam, Da Eun,Jung, Sung‐,Chul,Yoo, Da Hye,Choi, Sun Seong,Seo, Sung‐,Yum,Kim, Gwang Hoon,Kim, Song Ja,Nam, Soo Hyun,Choi, Byung‐,Ok,Chung, Ki Wha Wiley Periodicals, Inc. 2017 Journal of the peripheral nervous system Vol.22 No.3

<P><B>Abstract</B></P><P>Mutations in the <I>NEFH</I> gene encoding the heavy neurofilament protein are usually associated with neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS). Recently, frameshift variants in <I>NEFH</I> (p.Asp1004Glnfs*58 and p.Pro1008Alafs*56) have been reported to be the underlying cause of axonal Charcot‐Marie‐Tooth disease type 2CC (CMT2CC). The frameshift mutation resulted in a stop loss and translation of a cryptic amyloidogenic element (CAE) encoded by the 3′ untranslated region (UTR). This study also identified a <I>de novo</I> c.3015_3027dup frameshift mutation predicting p.Lys1010Glnfs*57 in <I>NEFH</I> from a CMT2 family with an atypical clinical symptom of prominent proximal weakness. This mutation is located near the previously reported frameshift mutations, suggesting a mutational hotspot. Lower limb magnetic resonance imaging (MRI) revealed marked hyperintense signal changes in the thigh muscles compared with those in the calf muscles. Therefore, this study suggests that the stop loss and translational elongations by the 3′ UTR of the <I>NEFH</I> mutations may be a relatively frequent genetic cause of axonal peripheral neuropathy with the specific characteristics of proximal dominant weakness.</P>

Protective effect of CT extracts on oxidative stress in Hydrogen Peroxide-treated Rat Chondrocytes

Da-Eun Nam,Ok Kyung Kim,Hye-Lin Jeon,Soo-Jeung Park,Jin-Nyoung Ho,Woojin Jun,Jeongmin Lee 한국식품영양과학회 2011 한국식품영양과학회 학술대회발표집 Vol.2011 No.10

Inhibitory Effects of Chios Mastic Gum on Gastric Acid Secretion by Histamine-Related Pathway in a Rat Model and Primary Parietal Cells

Da-Eun Nam,Ok Kyung Kim,Tae Jin Shim,Jum kyun Lee,Kwon-Tack Hwang 한국식품영양과학회 2014 한국식품영양과학회 학술대회발표집 Vol.2014 No.10

Eosinophilic gastroenteritis in an 18-year-old male with prolonged nephrotic syndrome

Choi, Da Min,Pyun, Jung Eun,Yim, Hyung Eun,Yoo, Kee Hwan,Shim, Jung Ok,Lee, Eun Jung,Won, Nam Hee The Korean Pediatric Society 2016 Clinical and Experimental Pediatrics (CEP) Vol.59 No.no.sup1

Eosinophilic gastroenteritis is a rare disease characterized by prominent eosinophilic tissue infiltration of the gastrointestinal tract. Here, we report a case of eosinophilic gastroenteritis in an 18-year-old patient with prolonged nephrotic syndrome who presented with abdominal pain and peripheral hypereosinophilia. During the previous 2 years, he had visited local Emergency Department several times because of epigastric pain and nausea. He had been treated with steroid-dependent nephrotic syndrome since 3 years of age. Tests ruled out allergic and parasitic disease etiologies. Gastroduodenoscopy with biopsy revealed marked eosinophilic infiltration in the duodenum. Renal biopsy findings indicated minimal change disease spectrum without eosinophilic infiltration. The oral deflazacort dosage was increased, and the patient was discharged after abdominal pain resolved. To our knowledge, this is the first report of eosinophilic gastroenteritis in a patient with minimal change disease.

비타민 E 아세테이트가 봉입된 셀룰로오스 나노입자의 제조

남다은(Nam Da Eun),정택규(Jeong Taeg Gyu),김승수(Kim Seung Su),신채호(Sin Chae Ho),신병철(Sin Byeong Cheol) 한국고분자학회 2004 폴리머 Vol.28 No.2

보스웰리아 추출물의 골관절염 억제 효과 연구

남다은(Da-Eun Nam),김옥경(Ok Kyung Kim),심태진(Tae Jin Shim),김지훈(Ji Hoon Kim),이정민(Jeongmin Lee) 한국식품영양과학회 2014 한국식품영양과학회지 Vol.43 No.5

본 실험에서는 primary culture된 연골세포 in vitro 실험모델과 MIA로 유발한 골관절염 in vivo 실험모델을 이용하여 보스웰리아 추출물의 골관절염 예방 효과를 확인하였다. 먼저 MTT 시험법을 통해 세포 사용 적정농도를 20 μg/mL 이하로 결정하여 연골세포 사멸 억제를 확인하고, 이를 근간으로 골관절염 동물실험 모델에서 골관절염 예방 효과를 확인하였다. H₂O₂ 처리에 따른 산화적 독성으로 연골세포 사멸을 유도한 실험에서 보스웰리아 추출물은 유의적으로 세포사멸을 억제하였으며 이러한 효과는 5~20 μg/mL 사이농도에서 비교적 높게 나타났다. 세포실험에서는 골관절염 발병에 따라 관절연골에 영향을 미치는 염증인자에 대한 기전연구를 진행하였으며, 연골세포에 LPS를 처리하여 염증을 유도한 후 보스웰리아 추출물의 효과를 확인한 실험 결과 면역과 염증반응을 조절하는 nuclear transcription factor κB(NFκB), 염증관련 cytokine IL-6, TNF-α의 발현이 모두 보스웰리아 추출물 처리 시 유의적으로 감소하는 것으로 나타났으며 특히 20 μg/mL 농도에서 가장 효과가 뚜렷하고 일관되게 확인되었다. 또한 이들 cytokine에 의해 생성되는 COX-2 발현과 COX-2에 자극 받아 생성이 촉진되는 PGE2 생성을 확인한 결과 역시 20 μg/mL 농도에서 가장 효과적으로 생성이 억제되어 염증을 조절하는 것으로 나타났다. 특히 보스웰리아의 기능성분으로 알려진 보스웰릭산(boswellic acids)에 의해 억제되는 5-LO의 경우, 염증반응 유발의 핵심인자를 생성하는 효소로 알려져 있으며 이를 직접적으로 저해하는 것으로 알려진 보스웰리아의 효능을 확인하고자 실험을 진행하였다. 실험 결과 염증을 유도한 연골세포에서 보스웰리아 추출물의 처리에 따라 5-LO 활성이 감소하였으며, 이는 곧 보스웰리아 추출물이 염증을 유발 핵심 효소인 5-LO 활성을 효과적으로 억제함으로써 연골세포 보호 효과를 나타낸 것이다. 세포실험에서의 기전 결과를 바탕으로 골관절염을 유발한 동물모델에서의 보스웰리아 추출물의 섭취에 따른 효과가 나타날 것으로 기대되어 관절염 유발 동물모델에서 보스웰리아 추출물의 효능검증 실험을 진행하였으며, 세포실험 결과 및 기존의 연구내용을 참고하여 동물에서 보스웰리아의 섭취 농도를 50 mg/kg, 100 mg/kg 및 200 mg/kg으로 결정하고 AIN-93G diet에 보스웰리아 추출물 분말을 섞어 보스웰리아 diet를 제작하여 실험기간 동안 제공하였다. 골관절염 유발 동물모델을 만들기 위해 SD rat의 관절강에 MIA를 injection 하였으며, 보스웰리아 추출물 섭취에 따른 관절염 예방 효과를 관찰하기 위해 관절염 유발 2주일 전부터 제작된 식이를 제공하고 유발 후 3주간 지속적으로 식이 제공 및 관찰하였다. 연골의 주요 구성 성분인 collagen 및 aggrecan은 골관절염 발병 시 여러 인자에 의해 분해되는 것으로 알려져 있으며, 골관절염 유발 동물모델에서 collagen type Ⅰ, collagen type Ⅱ 및 aggrecan 유전자 발현을 실시간 정량 PCR로 측정하여 변화를 살펴보았다. 그 결과 골관절염 유발 sham군에 비해 보스웰리아 추출물 섭취군에서 유의적으로 collagen type Ⅰ, collagen type Ⅱ 및 aggrecan 발현이 증가하였으며, 특히 BW200군에서 CLX 약물대조군과 비슷한 수준으로 발현이 증가하여 관절연골의 보호 효과가 가장 좋은 것으로 확인되었다. 교원질 합성을 억제하고 분해를 촉진시키는 MMPs(MMP-3, MMP-9, MMP-13)의 발현을 실시간 정량 PCR로 측정하여 발현 변화를 살펴보았다. 그 결과 앞선 다른 실험 결과와 마찬가지로 보스웰리아 섭취군에서 MMPs 유전자 발현이 유의적으로 낮아졌음을 살펴볼 수 있었다. 특히 BW200군에서 MMPs 발현이 유의적으로 감소하였으며, 관절염에 효과적으로 사용되는 약물인 CLX 투여 양성대조군과 비슷한 수치를 나타내었다. 이상의 결과를 통하여 보스웰리아 추출물은 골관절염에서 관절연골의 보호 효과가 있으며, 이는 골관절염 발생 시 나타나는 염증발현의 기전적인 측면뿐만 아니라 골관절염 유발 동물에서 섭취 효능까지 모두 일관되게 나타나 골관절염에서의 기능성 소재로써 개발 가능성이 충분할 것으로 생각된다. 또한 추후 실험을 통해 골관절염이 유발된 동물에서 보스웰리아 추출물 섭취 시 관절연골의 형태학적인 변화 및 골상태의 분석과 더불어 관절염 유발 동물의 관절연골 및 혈액학적 분석을 진행하여 동물에서 기전적 측면을 보완하고 보스웰리아 추출물 효능에 대한 추가적인 검증을 하고자 한다. The inhibitory effects of Boswellia serrata (BW) extracts on degenerative osteoarthritis were investigated in primary-cultured rat cartilage cells and a monosodium-iodoacetate (MIA)-induced osteoarthritis rat model. To identify the protective effects of BW extract against H2O2 (800 μM, 2 hr) in vitro, cell survival was measured by MTT assay. Cell survival after H2O2 treatment was elevated by BW extract at a concentration of 20 μg/mL. In addition, BW extract treatment significantly reduced and normalized the productions of pro-inflammatory factors, nuclear transcription factor κB, cyclooxygenase-2, tumor necrosis factor-α, and interleukin-6 at a concentration of 20 μg/mL. Treatment of chondrocytes with BW extract significantly reduced 5-lipoxygenase activity and production of prostaglandin E2, especially at a concentration of 10∼20 μg/mL. For the in vivo animal study, osteoarthritis was induced by intra-articular injection of MIA into knee joints of rats. Consumption of a diet containing BW extract (100 and 200 mg/kg) for 35 days significantly inhibited the development and severity of osteoarthritis in rats. To determine the genetic expression of arthritic factors in articular cartilage, real-time PCR was applied to measure matrix metalloproteinases (MMP-3, MMP-9, and MMP-13), collagen type I, collagen type II, and aggrecan, and BW extract had protective effects at a concentration of 200 mg/kg. In conclusion, BW extract was able to inhibit articular cartilage degeneration by preventing extracellular matrix degradation and chondrocyte injury. One can consider that BW extract may be a potential therapeutic treatment for degenerative osteoarthritis.