• Title/Summary/Keyword: Genetic screening

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Autosomal-dominant Polycystic Kidney Disease in a Family of Scottish Fold Cats (스코티쉬 폴드 고양이 가족에 발생한 상염색체 우성 다낭성 신병)

  • Seo, Kyoung-Won;Kim, Sae-Um;Ahn, Jin-Ok;Coh, Ye-Rin;Han, Sung-Young;Youn, Hwa-Young
    • Journal of Veterinary Clinics
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    • v.27 no.6
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    • pp.726-728
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    • 2010
  • Autosomal-dominant polycystic kidney disease (AD-PKD) is common in Persian and Persian-related breeds, and is sporadically reported in Scottish Fold cats. A 5-year-old male Scottish Fold cat was diagnosed with polycystic kidney disease based on screening tests and abdominal ultrasonography and died 3.5 months after diagnosis. The cat had 14 kittens with three queens, including his female sibling, with an age range of 3 months to 8 years. Genetic testing to confirm the genetic transmission of AD-PKD which detects the mutated PKD1 gene was performed. Abdominal ultrasonography confirmed the presence of renal cysts. Nineteen cats were screened in the present study (13 males and 6 females), with an age range of 3 months to 8 years. The results of renal ultrasonography agreed with the genetic test results in the 19 cats in which both tests were performed and 8 cats were diagnosed as ADPKD based on these tests. AD-PKD has not been investigated in cats in South Korea. Moreover, this is the first report of AD-PKD in a family unit of Scottish Fold cats.

Screening of Bioactive Compounds from Mushroom Pholiota sp. (비늘버섯으로부터 생리기능성 물질의 탐색)

  • Yu, Hyung-Eun;Cho, Soo-Muk;Seo, Geon-Sik;Lee, Byeong-Seok;Lee, Dae-Hyoung;Lee, Jong-Soo
    • The Korean Journal of Mycology
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    • v.34 no.1
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    • pp.15-21
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    • 2006
  • Extracts from 63 kinds of Pholiota sp. fruiting bodies were prepared using water and methanol, and then their physiological functionalities were investigated. The methanol extracts from Pholiota adiposa PAD030 showed high fibrinolytic activity and those of P. adiposa ASI PAD-022 showed potential inhibitory activity of 76.8% against ${\beta}-hydroxy-{\beta}-methylglutaryl(HMG)-CoA$ reductase. The highest antioxidant and tyrosinase inhibitory activities were found in the water extracts of Pholiota sp. PSP-015 (72.7%) and methanol extracts of P. nameko PNA-024 (69.5%), respectively. However, superoxide dismutase(SOD)-like activity and elastase inhibitory activity were low in almost of the extracts. The HMG-CoA reductase inhibitor from the fruiting body of P. adiposa PAD-022 which showed the highest functionality was extracted maximally when powder of the fruiting body was shaked at $30^{\circ}C$ for 12 h by methanol and its HMG-CoA reductase inhibitory activity was 80.2%.

Screening of Mushrooms Having Angiotensin I-Converting Enzyme Inhibitor (각종 버섯류로부터 안지오텐신 전환효소 저해제의 탐색)

  • Lee, Dae-Hyoung;Kim, Jae-Ho;Cheong, Jong-Chun;Gong, Won-Shik;Yoo, Young-Bok;Park, Jeong-Sik;Yoo, Chang-Hyun;Lee, Jong-Soo
    • The Korean Journal of Mycology
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    • v.31 no.3
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    • pp.148-154
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    • 2003
  • Extracts from 52 samples of mushrooms were prepared by using water, ethanol and methanol, and then yields and angiotensin I-converting enzyme(ACE) inhibitory activity were investigated. Sample mushrooms contained crude proteins of $7.1{\sim}56.5%$, curde lipids of $0.2{\sim}4.4%$ and carbohydrates of $30.3{\sim}86.6%$. Among 52 samples, the water extract from fruiting body of Pholiota spp. ASI 24027 showed the highest extraction yield of 68%. Water extract of Pholiota spp. ASI 24012 fruiting body had potential ACE inhibitory activity of 66%. The optimal extraction condition of the ACE inhibitor from the fruiting bodyies of Pholiota spp. ASI 24012 was In water at $30^{\circ}C$ for 1 hr and ACE inhibitory activity was 67.6% on the condition with 0.2 mg of $IC_{50}$.

Bacterial Toxin-antitoxin Systems and Their Biotechnological Applications (박테리아의 toxin-antitoxin system과 생명공학기술 응용)

  • Kim, Yoonji;Hwang, Jihwan
    • Journal of Life Science
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    • v.26 no.2
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    • pp.265-274
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    • 2016
  • Toxin-antitoxin (TA) systems are ubiquitous genetic modules that are evolutionally conserved in bacteria and archaea. TA systems composed of an intracellular toxin and its antidote (antitoxin) are currently classified into five types. Commonly, activation of toxins under stress conditions inhibits diverse cellular processes and consequently induces cell death or reversible growth inhibition. These effects of toxins play various physiological roles in such as regulation of gene expression, growth control (stress response), programmed cell arrest, persister cells, programmed cell death, phage protection, stabilization of mobile genetic elements or postsegregational killing of plasmid-free cells. Accordingly, bacterial TA systems are commonly considered as stress-responsive genetic modules. However, molecule screening for activation of toxin in TA system is available as development of antimicrobial agents. In addition, cytotoxic effect induced by toxin is used as effective cloning method with antitoxic effect of antitoxin; consequently cells containing cloning vector inserted a target gene can survive and false-positive transformants are removed. Also, TA system is applicable to efficient single protein production in biotechnology industry because toxins that are site-specific ribonuclease inhibit protein synthesis except for target protein. Furthermore, some TA systems that induce apoptosis in eukaryotic cells such as cancer cells or virus-infected cells would have a wide range of applications in eukaryotes, and it will lead to new ways of treating human disease. In this review, we summarize the current knowledge on bacterial TA systems and their applications.

Selection of Lines Resistant to Phytophthora capsici from Capsicum chinense, Korean Land Races and Resistant Genetic Resources of Pepper (Capsicum chinense, 재래종 및 저항성 고추 유전자원에서 역병 저항성 계통 선발)

  • Kim, Jeong-Hoon;Yeo, Seung-Ho;Kim, Dong-Woo;Bae, Su-Yeon;Han, Jeong-Hye;Hwang, Hee-Suk;Kim, Byung-Soo
    • Current Research on Agriculture and Life Sciences
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    • v.20
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    • pp.9-18
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    • 2002
  • A total of 31 C. chinense lines selected from 2000 screening were tested again for resistance to P. capsid but resistance was not found in tile lines. A total of 26 selections from Korean land races tested 2001 spring were tested again for resistance to P. capsici, KC180, KC230, KC195 and KC194 showed moderate resistance to P. capsid. However, it was apparent on the basis of horticultural characteristics that KC180 and KC230 had been naturally crossed with AC2258 and CM334, respectively. CM334 and AC2248 seed lots that were increased in different years were taken out and tested for resistance to improve their genetic purity because the resistant genetic resources have been showing some off-types in tile population. Off-types began to be found in 1992 seed lots and tile proportion and degree of tile offs was increasing with time up to 2001. Plants true to the type in 1992 seed lots were selected and their inbred seeds were mass produced in a net cage in the greenhouse. AC2258 included in the experiment together was uniform. In 1995 seed lots of CM334, plants with resistance to P. capsici and low or no number of lateral branching at cotyledonary axil, although they were off from tile original CM334, were found and selection was applied to breed lines fixed in tile characters.

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Secondary Metabolites and Morphological Diversity in the Leaves of Perilla Landrace from Korea

  • Assefa, Awraris Derbie;Sung, Jung-Sook;Jeong, Yi-Jin;Lee, Ho-Sun;Rhee, Ju-Hee;Hur, On-Sook;Noh, Jae-Jong;Ro, Na-Young;Hwang, Ae-Jin;Lee, Jae-Eun
    • Proceedings of the Plant Resources Society of Korea Conference
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    • 2019.10a
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    • pp.64-64
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    • 2019
  • Screening and identification of genetic resources based on their phytoconstituents and morphological characters potentially provide baseline data for researchers, breeders, and nutraceutical companies who wish to formulate a nutrient-dense diet and health beneficial supplement. Thus, we evaluated the amount of total phenolic content and major phenolic compounds; examined if phenolic compounds could be used as distinguishing factors for perilla genetic resources; and investigated the relation between some quantitative and qualitative morphological characters with the contents of phenolic compounds in 360 accessions obtained from National Agrobiodiversity Center gene bank, Jeonju, Korea. Total phenolic content (TPC) was estimated using Folin-Ciocalteu colorimetric assay. Individual phenolic compounds were determined using an Ultra-High Performance Liquid Chromatography system equipped with Photodiode Array detector. Considerable variations were observed in TPC (7.99 to 117.47 mg GAE/g DE), rosmarinic acid (RA) (ND to 19.19 mg/g DE), caffeic acid (CA) (ND to 0.72 mg/g DE), apigenin-7-O-diglucuronide (ADG) (ND to 1.24 mg luteolin equivalent (LUE)/g DE), scutellarein-7-O-glucuronide (SG) (ND to 4.32 mg LUE/g DE), and apigenin-7-O-glucuronide (AG) (ND to 1.60 mg LUE/g DE). RA was the most dominant phenolic compound in most accessions (95.3%) followed by SG. The adaxial leaf color was light green, green and dark green in 13.8%, 65.0%, and 21.1 % of the accessions, respectively. 78.8% of the accessions had light green color at the abaxial side with the remaining being described as green. Most of the accessions (96.9%) were cordate shape, the remaining being eclipse. Intensities of green pigment at abaxial and adaxial leaf surfaces were correlated with contents of individual phenolic compounds and TPC whereas leaf length and width had no correlation with TPC, CA and RA, and negatively correlated with ADG, AG, and SG. Leaf shape was not related with content of phenolic compounds, color of leaves, or the length or width of leaves. Accessions IT57426, IT157434, IT267710, and IT267712 which contained relatively high contents of TPC and major phenolic compounds (RA and SG) could be used for further research in breeding and bioassay test. Our study result showed the contents of total phenolics and individual phenolic compounds along with the morphological characters could be useful distinguishing factors for perilla genetic resources.

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A Case of Propionic Acidemia Presenting with Dilated Cardiomyopathy (확장성 심근병증으로 발현된 프로피온산혈증 1례)

  • Son, Jisoo;Choi, Yoon-Ha;Seo, Go Hun;Kang, Minji;Lee, Beom Hee
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.21 no.1
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    • pp.22-27
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    • 2021
  • Propionic acidemia (PA) is an inherited autosomal recessive disorder, due to the deficiency of propionyl-CoA carboxylase (PCC). PCC is the enzyme which catalyzes the conversion of propionyl-CoA to D-methylmalonyl-CoA, and it is critical for the metabolism of amino acids, odd-chain fatty acids, and side chains of cholesterol. The clinical manifestations present mostly at the neonatal period with life-threatening metabolic acidosis and hyperammonemia. Here, we described a case of a 16-year-old Korean boy with late-onset PA who presented with embolic cerebral infarction due to dilated cardiomyopathy (DCMP) with left ventricular noncompaction. And he has family history of sudden cardiac death, so we performed metabolic screening and genetic tests. Elevated levels of 3-hydroxypropionic acid, methylcitric acid and propionylglycerine were detected in urine. Plasma acylcarnitine profile showed elevated propionylcarnitine (C3). Diagnosis of PA was confirmed by genetic analysis, which revealed compound heterozygous mutations, c.[1151T>G] (p.[Phe384Cys]) and c.[1228C>T] (p.[Arg410Trp]) in PCCB gene. His heart function is in improving state and the results of biochemical analysis are stable with heart failure medication and metabolic managements. We present a case of patient without episodes of metabolic decompensation who manifests DCMP as the first symptom of PA.

Whole genome sequencing of Luxi Black Head sheep for screening selection signatures associated with important traits

  • Liu, Zhaohua;Tan, Xiuwen;Wang, Jianying;Jin, Qing;Meng, Xianfeng;Cai, Zhongfeng;Cui, Xukui;Wang, Ke
    • Animal Bioscience
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    • v.35 no.9
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    • pp.1340-1350
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    • 2022
  • Objective: Luxi Black Head sheep (LBH) is the first crossbreed specialized for meat production and was developed by crossbreeding Black Head Dorper sheep (DP) and Small Tailed Han sheep (STH) in the farming areas of northern China. Research on the genomic variations and selection signatures of LBH caused by continuous artificial selection is of great significance for identifying the genetic mechanisms of important traits of sheep and for the continuous breeding of LBH. Methods: We explored the genetic relationships of LBH, DP, and several Mongolian sheep breeds by constructing phylogenetic tree, principal component analysis and linkage disequilibrium analysis. In addition, we analysed 29 whole genomes of sheep. The genome-wide selection signatures have been scanned with four methods: heterozygosity (HP), fixation index (FST), cross-population extended haplotype homozygosity (XP-EHH) and the nucleotide diversity (𝜃π) ratio. Results: The genetic relationships analysis showed that LBH appeared to be an independent cluster closer to DP. The candidate signatures of positive selection in sheep genome revealed candidate genes for developmental process (HoxA gene cluster, BCL2L11, TSHR), immunity (CXCL6, CXCL1, SKAP2, PTK6, MST1R), growth (PDGFD, FGF18, SRF, SOCS2), and reproduction (BCAS3, TRIM24, ASTL, FNDC3A). Moreover, two signalling pathways closely related to reproduction, the thyroid hormone signalling pathway and the oxytocin signalling pathway, were detected. Conclusion: The selective sweep analysis of LBH genome revealed candidate genes and signalling pathways associated with developmental process, immunity, growth, and reproduction. Our findings provide a valuable resource for sheep breeding and insight into the mechanisms of artificial selection.

GENETIC ALTERATIONS OF HUMAN ORAL CANCERS USING COMPARATIVE GENOMIC HYBRIDIZATION (Comparative genomic hybridization 기법을 이용한 인체 구강암의 유전자 변화에 대한 연구)

  • Lee, Myeong-Reoyl;Shim, Kwang-Sup;Lee, Young-Soo;Woo, Soon-Seop;Kong, Gu
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.26 no.3
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    • pp.245-253
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    • 2000
  • The development and progression of oral cancer is associated with an accumulation of multiple genetic alterations through the multistep processes. Comparative genomic hybridization(CGH), newly developed cytogenetic and molecular biologic technique, has been widely accepted as a useful method to allow the detection of genetic imbalance in solid tumors and the screening for chromosome sites frequently affected by gains or losses in DNA copy number. The authors examined 19 primary oral squamous cell carcinomas using CGH to identify altered chromosome regions that might contain novel oncogenes and tumor suppressor genes. Interrelationship between these genetic aberrations detected and major oncogenes and tumor suppressor genes previously recognized in carcinogenesis of oral cancers was studied. 1. Changes in DNA copy number were detected in 14 of 19 oral cancers (78.9%, mean: 5.58, range: $3{\sim}13$). High level amplification was present in 4 cases at 9p23, $12p21.1{\sim}q13.1$, 3q and $8q24{\sim}24.3$. Fourteen cases(78.9%, mean: 3.00, range: $1{\sim}8$) showed gains of DNA copy number and 12 cases(70.5%, mean: 2.58, range: $1{\sim}9$) revealed losses of DNA copy number. 2. The most common gains were detected on 3q(52.6%), 5p(21.0%), 8q(21.0%), 9p(21.0%), and 11q(21.0%). The losses of DNA copy number were frequently occurred at 9p(36.8%), 17q(36.8%), 13q(26.3%), 4p(21.0%) and 9p(21.0%). 3. The minimal common regions of gains were repeatedly observed at $3q24{\sim}26.7$, $3q27{\sim}29$, $1q22{\sim}31$, $5p12{\sim}13.3$, $8q23{\sim}24$, and 11q13.1-13.3. The minimal common regions of losses were detected at $9q11{\sim}21.3$, 17p31, $13q22{\sim}34$, and 14p16. 4. In comparison of CGH results with tumor stages, the lower stage group showed more frequent gain at 3q, 5q, 9p, and 14q, whereas gains at 1q($1q22{\sim}31$) and 11q($11q13.1{\sim}13.3$) were mainly detected in higher stage group. The loss at $13q22{\sim}34$ was exclusively detected in higher stage. The results indicate that the most frequent genetic alterations in the development of oral cancers were gains at $3q24{\sim}26.3$, $1q22{\sim}31$, and $5p12{\sim}13.3$ and losses at $9q11{\sim}21.3$, 17p31, and 13q. It is suggested that genetic alterations manifested as gains at $3q24{\sim}26.3$, $3q27{\sim}29$, $5p12{\sim}13.3$ and 5p are associated with the early progression of oral cancer. Gains at $1q22{\sim}31$ and $11q13.1{\sim}13.3$ and loss at 13q22-34 could be involved in the late progression of oral cancers.

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Characteristics and Screening of Antioxidative Activity for the Fruit by Rubus coreanus Miq. Clones (복분자딸기 클론별 과실특성과 항산화 활성 탐색)

  • Kim, Sea Hyun;Chung, Hun Gwan;Jang, Yong Seok;Park, Young Ki;Park, Hyung Soon;Kim, Sun Chang
    • Journal of Korean Society of Forest Science
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    • v.94 no.1 s.158
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    • pp.11-15
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    • 2005
  • Fruit characteristics, saccharinity, and antioxidative activity of selected clones of Rubus coreanus, grown in Korea, well-known as edible and medical resources, frequently used and which has an excellent pharmacological activity are examined and analyzed. The results obtained from this study can be summarized as follows; Result of surveying characteristics for the fruit and saccharinity variation by collection time, there are some meaningful differences between examined clones and the collection time, exception of the fruit width. From the clones, SG 3 is the biggest in size, the highest in the saccharinity out of five clones, on the other hand, CJ 18 and SH 3 are the opposite. Meanwhile, comparing examined saccharinity factor with maximum temperature and precipitation out of daily climates at Suwon Meteorological Observatory at the same period, on the day the highest temperature is $29.5^{\circ}C$, saccharinity distinctively ascends, but on the day the precipitation is recorded 121.5 mm and next day, the saccharinity descends. Also, five-day saccharinity until the precipitation lower than 0.1 mm per day shows from 10.4 to 11.5 Brix higher than the average saccharinity of 9.7 Brix. Fifteen clones including CA 6 about fruit characteristics in terms of collection layer and saccharinity variation were examined, there is significantly difference among examined clones, but about the collection layer, only saccharinity factor has meaningful significance. For clones, MJ 11 is the biggest and excellent character of 15 clones but the saccharinity, 10.3 Brix lows a bit, MC 9 and HAE 5 are the worst fruit in character but saccharinity is 13.4 Brix and 10.6 Brix which is higher than the average saccharinity of 9.8 Brix. About saccharinity for the collection layer, the fruit average saccharinity, collected from the upper layer which is good at lightness and temperature condition, is 10.2 Brix which shows higher than the one of the fruit, 9.7 Bix and 9.5 Brix collected from the middle or the lower layer. The saccharinity of fruit collected from the middle or the lower layer is lower than the average saccharinity of 9.8 Brix out of 15 surveyed clones. Surveying antioxidative activity resulted from free radical scavenging activity about 30 clones of fruit in total, there is difference between surveyed clones. Especially, Immatured fruit extracts exhibited higher free radical scavenging activity of 94.5 to 97.5% which indicates the similarity to Ascorbic acid, unlike other clones, on the concentration of 250 to 1,000 ppm.