• Title/Summary/Keyword: genetic

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Identification of Homozygous Mutations in Two Consanguineous Families with Hearing Loss (청력 장애를 나타내는 두 근친 가계로부터 동형접합성 돌연변이의 분리)

  • Lim, Si On;Park, Hye Ri;Jung, Na Young;Park, Cho Eun;Kanwal, Sumaira;Chung, Ki Wha
    • Journal of Life Science
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    • v.31 no.5
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    • pp.453-463
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    • 2021
  • Hearing loss is a group of clinically and genetically heterogeneous disorders characterized by congenital- to adult-onset deafness with frequent additional symptoms such as myopathy, nephropathy, and optic disorders. It is commonly divided into two types: syndromic, with no other symptoms, and nonsyndromic, with other symptoms. Autosomal recessive hearing loss is relatively frequent in Pakistan, which may be due in part to frequent consanguineous marriages. This study was performed by whole exome sequencing to determine the genetic causes in two Pakistani consanguineous families with autosomal recessive hearing loss. We identified a pathogenic homozygous variant (p.Leu326Gln in MYO7A) in a family with prelingual-onset hearing loss and two variants of uncertain significance (p.Val3094Ile in GPR98 and p.Asp56Gly in PLA2G6) in a family with early-onset hearing loss concurrent with muscular atrophy. The missense mutations in MYO7A and PLA2G6 were located in the highly conserved sites, and in silico analyses predicted pathogenicity, while the GPR98 mutation was located in the less conserved site, and most in silico analysis programs predicted its nonpathogenic effect. Homozygosity mapping showed that both alleles of the homozygous mutations identified in each family originated from a single founder; spread from this single source might be due to consanguineous marriages. This study will help provide exact molecular diagnosis and treatment for autosomal recessive hearing loss patients in Pakistan.

Distribution Characteristics, Population Structure and Dynamics of the Endangered Plant, Viola websteri Hemsl. (멸종위기야생식물인 왕제비꽃(Viola websteri Hemsl.)의 분포특성과 개체군 구조 및 동태)

  • Chae, Hyun-Hee;Kim, Young-Chul;Kwak, Myoung-Hai;Nam, Gi-Heum
    • Korean Journal of Environment and Ecology
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    • v.35 no.1
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    • pp.48-67
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    • 2021
  • Plant species exhibit current characteristics as a result of interactions with environmental conditions. The plants of Viola sp. have selected chasmogamous flowers with vigorous vegetative propagation or development of cleistogamous flowers as an adaptation strategy. Viola websteri is distributed on the Korean peninsula and the eastern part of Jilin Province, China. The center and edge of the distribution are expected to exhibit different population-dynamics. It is necessary to investigate the cause of its current limited distribution even though V. websteri has a mixed-mating strategy. Firstly, We examined the vegetation environment of habitats and evaluated its characteristics. Growth characteristics were examined through plant phenology. We then evaluated the population structure, characteristics of chasmogamous flowers, and productivity of cleistogamous flowers. Moreover, we compared population sizes between 2014 and 2018. Most habitats were located in deciduous broadleaf mixed forests adjacent to valleys. V. websteri produced chasmogamous flowers with self-incompatibility in April-May and cleistogamous flowers in June-September. The cleistogamous flower production is a strategy ensuring seed production under uncertain environmental fluctuations; these were approximately twice as numerous as chasmogamous flowers. The population structure was distinguished into stable and very unstable regions. There were sites where the population experienced a sharp decline in the 2018 compared to that of 2014. This large decline was found in the edge populations. The habitats had different microsites depending on the natural disturbances of drought and the matrix constituting the habitat, thus supporting various plants. Ensuring the production of seeds through cleistogamous flowers, it was determined that rapid seedling re-establishment and population replenishment were possible when the natural disturbance factor was removed. Environmental factors did not equally affect all populations or individuals. Therefore, it was expected that it would be able to persisted in a long time, despite the rapid decrease in the number of individuals in the population regionally. Local extinction and re-establishment are likely to repeat according to environmental change. We propose the additional population investigation based on this works are required. We also suggest a need to assess the long-term population dynamics and the genetic characteristics of chasmogamous flowers and cleistogamous flowers to establish and implement effective conservation strategies.

Gene Expression of Detoxification Enzymes in Tenebrio molitor after Fungicide Captan Exposure (살진균제인 캡탄 처리 후 갈색거저리의 해독효소 유전자 발현)

  • Jang, Ho am;Baek, Hyoung-Seon;Kim, Bo Bae;Kojour, Maryam Ali Mohammadie;Patnaik, Bharat Bhusan;Jo, Yong Hun;Han, Yeon Soo
    • Korean journal of applied entomology
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    • v.61 no.1
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    • pp.155-163
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    • 2022
  • The application of fungicides is indispensable to global food security, and their use has increased in recent times. Fungicides, directly or indirectly, have impacted insects, leading to genetic and molecular-level changes. Various detoxification mechanisms allow insects to eliminate reactive oxygen species (ROS) toxicity induced by agrochemicals including fungicides. In the present study, we analyzed the mRNA expression levels of detoxifying enzymes in Tenebrio molitor larvae following exposure to non-lethal doses (0.2, 2, and 20 ㎍/µL) of a fungicide captan. Transcripts of peroxidases (POXs), catalases (CATs), superoxide dismutases (SODs), and glutathione-s-transferases (GSTs) were screened from the T. molitor transcriptome database. RT-qPCR analysis showed that TmPOX5 mRNA increased significantly 24 h post-captan exposure. A similar increase was noticed for TmSOD4 mRNA 3 h post-captan exposure. Moreover, the expression of TmCAT2 mRNA increased significantly 24 h post-treatment with 2 ㎍/µL captan. TmGST1 and TmGST3 mRNA expression also increased noticeably after captan exposure. Taken together, these results suggest that TmPOX5 and TmSOD4 mRNA can be used as biomarkers or xenobiotics sensors for captan exposure in T. molitor, while other detoxifying enzymes showed differential expression.

Physicochemical Properties of Protaetia brevitarsis sinulensis Larvae Reared with Feed Including Noni and Nipa Palm (노니와 해죽순 급이가 흰점박이꽃무지 유충에 미치는 물리화학적 특성)

  • Kim, Sam Woong;Je, Kyeong Min;Kim, Dul Nam;Kim, Tae Wan;Bang, Kyu Ho;Chi, Won-Jae;Bang, Woo Young;Kim, Jang Hyeon;Yang, Chul Woong;Kim, Il-Suk
    • Journal of Life Science
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    • v.32 no.10
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    • pp.784-791
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    • 2022
  • This study observed changes in the body composition of Protaetia brevitarsis sinulensis larvae when reared with feed that included noni and nipa palm. Compared to the control group, the death rate and product yield of the treatment group were improved after the larval fasting process. The brightness of the larval powder of the treatment group increased, but the redness decreased. The crude fat content of the treated group was slightly increased according to the assays of the general components, but the mineral content was significantly increased. The total structural amino acids of the treatment group decreased, but the total free amino acids increased. The structural amino acids generally tended to decrease in the treatment group. However, the free amino acids showed no specific differences. Among the free amino acids, tryptophan, phosphoserine, and methylhistidine were highly increased in the treatment group, whereas threonine, methionine, and asparagine showed the opposite results. Among the polyunsaturated fatty acids, eicosapentaenoic acid (C20:5n3) of omega-3 was increased in the treatment group, but the omega-6 series was decreased. Since minerals, total free amino acids, and omega-3 fatty acids in the treatment group were increased compared to the control group, we suggest that noni and nipa palm can potentially be applied to the production of functionally improved substances as additional sources of feed for Protaetia brevitarsis sinulensis larvae.

Comparison of the Efficacy of Disinfectants to Control Caseous Lymphadenitis in Korean Black Goat Farms (흑염소의 건락성 림프절염 제어를 위한 소독제 효능 비교)

  • Cho, Hyeunwoo;Kim, Yeona;Jang, Beomsoon;Kim, Chan-Lan;Park, Kun Taek
    • Journal of Food Hygiene and Safety
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    • v.37 no.5
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    • pp.317-322
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    • 2022
  • Corynebacterium pseudotuberculosis is the causative agent of caseous lymphadenitis (CLA), a chronic contagious disease in small ruminants. The prevalence of CLA has been reported to be >50% in Korean black goats. CLA is difficult to control due to a lack of efficient vaccines and treatment methods. Effective disinfection of the farm environment may be an alternative strategy for reducing the spread of C. pseudotuberculosis. The objective of this study was to evaluate the efficacy of commercial disinfectants against CLA. The six commercial disinfectants, largely composed of sodium dichloroisocyanurate, sodium hypochlorite, potassium monopersulfate triple salt, quaternary ammonium, citric acid, and copper sulfate, were tested against five different genotypes of C. pseudotuberculosis isolated from goat farms in Korea. Efficacy tests were performed in accordance with the disinfectant efficacy test guidelines recommended by the Animal and Plant Quarantine Agency of Korea with slight modifications. All disinfectants except for copper sulfate exhibited >99.99% killing efficacy under hard water conditions following 30 min of incubation, which is the recommended standard treatment time according to guidelines. The minimum bactericidal treatment time was evaluated by employing treatments for durations of 1, 5, and 15 min. The most effective compounds under hard water conditions were sodium dichloroisocyanurate, potassium monopersulfate triple salt, and sodium hypochlorite, exhibiting >99.99% killing efficacy after 1 min of treatment. In the aqueous solution forms, citric acid and the quaternary ammonium compound were the most effective, but required at least 5 min to kill >99.99% of the bacteria. The current study characterizes the killing efficacy of six commercial disinfectant active compounds against C. pseudotuberculosis. Thus, this study provides essential information regarding the efficacy of the disinfectants used to control CLA in goat farms.

Evaluation of waterlogging tolerance using chlorophyll fluorescence reaction in the seedlings of Korean ginseng (Panax ginseng C. A. Meyer) accessions (엽록소 형광반응을 이용한 인삼 유전자원의 습해 스트레스 평가)

  • Jee, Moo Geun;Hong, Young Ki;Kim, Sun Ick;Park, Yong Chan;Lee, Ka Soon;Jang, Won Suk;Kwon, A Reum;Seong, Bong Jae;Kim, Me-Sun;Cho, Yong-Gu
    • Journal of Plant Biotechnology
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    • v.49 no.3
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    • pp.240-249
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    • 2022
  • Measuring chlorophyll fluorescence (CF) is a useful tool for assessing a plant's ability to tolerate abiotic stresses such as drought, waterlogging and high temperature. Korean ginseng is highly sensitive to water stress in paddy fields. To evaluate the possibility of non-destructively diagnosing waterlogging stress using chlorophyll fluorescence (CF) imaging techniques, we screened 57 ginseng accessions for waterlogging tolerance. To evaluate waterlogging tolerance among the 2-year-old Korean ginseng accessions, we treated ginseng plants with water stress for 25 days. The physiological disorder rate was characterized through visual assessment (an assigned score of 0-5). The physiological disorder rates of Geumjin, Geumsun and GS00-58 were lower than that of other accessions. In contrast, lines GS97-62, GS97-69 and GS98-1-5 were deemed susceptible. Root traits, chlorophyll content and the reduction rates decreased in most ginseng accessions. Further, these metrics were significantly lower in susceptible genotypes compared to resistant ones. All CF parameters showed a positive or negative response to waterlogging stress, and this response continuously increased over the treatment time among the genotypes. The CF parameter Fv/Fm was used to screen the 57 accessions, and the results showed clear differences in Fv/Fm between the susceptible and resistant genotypes. Susceptible genotypes had an especially low Fv/Fm value of less than 0.8, reflecting damage to the reaction center of photosystem II. It is concluded that Fv/Fm can be used as a CF parameter index for screening waterlogging stress tolerance in ginseng genotypes.

Development of a New Synthetic Korean Native Chicken Breed using the Diallel Cross-Mating Test (토종닭의 이면교배조합 시험을 이용한 신품종 종계 개발)

  • Sohn, Sea Hwan;Choi, Eun Sik;Kim, Ki Gon;Park, Byeongho;Choo, Hyo Jun;Heo, Jung Min;Oh, Ki Suk
    • Korean Journal of Poultry Science
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    • v.48 no.2
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    • pp.69-80
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    • 2021
  • We conducted a 4 × 4 diallel cross-mating test using 934 chickens from four grandparent stock lines to develop a new synthetic breed of Korean native chicken. The mean values, combining ability, and reciprocal effects on survival rate, body weight, and hen-day egg production were analyzed. In phenotypes, most chickens have yellowish-brown, reddish-brown and mixed color feathers. The average survival rate was 86.8±12.3%, with the highest in YH combination. Specific combining ability (SCA) had a greater effect on survival rate than general combining ability (GCA), and the SCA of HY combination was the highest. The 16 cross-combinations were distinctly divided into three weight groups according to their genetic characteristics. At 12 weeks of age, GCA showed a greater effect on weight than SCA, and the SCA of FH combination was the highest. The age at first egg laying was 157 days, and the crosses reached sexual maturity faster than the pure lines. The egg production rate was highest in SY at 79.5±2.1%. The GCA and SCA for hen-day egg production were similar, and the SCA was highest in the HS and FY combinations. The reciprocal effect showed that the offspring's egg production rate was high when S and Y were maternal parents in almost all combinations. In conclusion, FH and HF combinations, which have excellent growth performance, are the most desirable paternal parent stock strains, and FY, FS, HY, and SY combinations, which have excellent laying performance with moderate weight, are the preferred maternal strains.

Long-term Clinical Consequences in Patients with Urea Cycle Disorders in Korea: A Single-center Experience (요소회로대사 질환 환자들의 장기적인 임상 경과에 대한 단일 기관 경험)

  • Lee, Jun;Kim, Min-ji;Yoo, Sukdong;Yoon, Ju Young;Kim, Yoo-Mi;Cheon, Chong Kun
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.21 no.1
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    • pp.15-21
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    • 2021
  • Purpose: Urea cycle disorder (UCD) is an inherited inborn error of metabolism, acting on each step of urea cycle that cause various phenotypes. The purpose of the study was to investigate the long-term clinical consequences in different groups of UCD to characterize it. Methods: Twenty-two patients with UCD genetically confirmed were enrolled at Pusan National University Children's hospital and reviewed clinical features, biochemical and genetic features retrospectively. Results: UCD diagnosed in the present study included ornithine transcarbamylase deficiency (OTCD) (n=10, 45.5%), argininosuccinate synthase 1 deficiency (ASSD) (n=6, 27.3%), carbamoyl-phosphate synthetase 1 deficiency (CPS1D) (n=3, 13.6%), hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) (n=2, 9.1%), and arginase-1 deficiency (ARG1D) (n=1, 4.5%). The age at the diagnosis was 32.7±66.2 months old (range 0.1 to 228.0 months). Eight (36.4%) patients with UCD displayed short stature. Neurologic sequelae were observed in eleven (50%) patients with UCD. Molecular analysis identified 37 different mutation types (14 missense, 6 nonsense, 6 deletion, 6 splicing, 3 delins, 1 insertion, and 1 duplication) including 14 novel variants. Progressive growth impairment and poor neurological outcomes were associated with plasma isoleucine and leucine concentrations, respectively. Conclusion: Although combinations of treatments such as nutritional restriction of proteins and use of alternative pathways for discarding excessive nitrogen are extensively employed, the prognosis of UCD remains unsatisfactory. Prospective clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth or neurological outcomes and decrease metabolic crisis episodes in patients with UCD.

Characteristics of a new Hypsizigus marmoreus variety 'Yunseul' with little bitterness and high yield (쓴 맛이 적은 다수성 느티만가닥버섯 신품종 '윤슬')

  • Choi, Jun-Yeong;Shin, Bok-Eum;Baek, Il-Seon;Kim, Yeon-Jin;Kim, Jeong-Han;Choi, Jong-In;Ha, Tai-Moon;Jeong, Gu-Hyun
    • Journal of Mushroom
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    • v.20 no.3
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    • pp.113-118
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    • 2022
  • This study was conducted to diversify the cultivation of mushroom items and develop a competitive variety of Hypsizigus marmoreus. We focused on developing Hypsizigus marmoreus with lower bitterness, likable shape, and high yield. We have collected and tested characteristics of genetic resources from domestic and abroad since 2019. Breeding (2019), characterization (2020), productivity test (2021), and farm demonstration test (2021) have been sequentially conducted. We bred the new variety 'Yunseul' with unique traits. The optimal temperature for mycelial and fruit body growth were 22-25℃ and 15-18℃, respectively. It was similar to the control variety (Mangadak-2Ho) in the pileus form (hemispherical shape) and the cultivation period. However, it was thinner and longer than the control variety with the pileus diameter, thickness, stipe diameter, and length being 19.9 mm, 7.0 mm, 9.4 mm, and 86.3 mm, respectively. The effective number of fruit bodies was 47.8 in bottle cultivation, which was more than that of the control variety. The yield was 197.4 g/bottle (1,100 cc), which was 30% higher than the yield of the control variety, 151.9 g/bottle (1,100 cc). The parent and control varieties were also incubated alongside the new variety. The somatic incompatibility line was distinct. The band pattern in the mycelial DNA PCR reaction was different from that of the parent and control varieties, confirming the hybrid species.

Evaluation and Physicochemical Property for Building Materials from the Japanese Ministry of General Affairs in Joseon Dynasty (일제강점기 조선통감부 건축재료의 물리화학적 특성과 평가)

  • Park, Seok Tae;Lee, Jeongeun;Lee, Chan Hee
    • Economic and Environmental Geology
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    • v.55 no.4
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    • pp.317-338
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    • 2022
  • Physicochemical characteristics and evaluation were studied by subdividing the concretes, bricks and earth pipes on the site of the Japanese Ministry of General Affairs in Joseon Dynasty, known as modern architecture, into three periods. Concretes showed similar specific gravity and absorption ratio, and large amounts of aggregates, quartz, feldspar, calcite and portlandite were detected. Porosity of the 1907 bricks were higher than those of 1910 and 1950 bricks. All earthen pipe is similar, but the earlier one was found to be more dense. Bricks and earthen pipes are dark red to brown in color within many cracks and pores, but the matrix of the earthen pipe is relatively homogeneous. Quartz, feldspar and hematite are detected in bricks, and mullite is confirmed with quartz and feldspar in earthen pipes, so it is interpreted that the materials have a firing temperature about 1,000 to 1,100℃. Concretes showed similar CaO content, but brick and earthen pipe had low SiO2 and high Al2O3 in the 1907 specimen. However, the materials have high genetic homogeneity based on similar geochemical behaviors. Ultrasonic velocity and rebound hardness of the concrete foundation differed due to the residual state, but indicated relatively weak physical properties. Converting the unconfined compressive strength, the 1st extended area had the highest mean values of 45.30 and 46.33 kgf/cm2, and the 2nd extended area showed the lowest mean values (20.05 and 24.76 kgf/cm2). In particular, the low CaO content and absorption ratio, the higher ultrasonic velocity and rebound hardness. It seems that the concrete used in the constructions of the Japanese Ministry of General Affairs in Joseon Dynasty had similar mixing characteristics and relatively constant specifications for each year. It is interpreted that the bricks and earthen pipes were through a similar manufacturing process using almost the same raw materials.