• Title/Summary/Keyword: Genetic Structure

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Whole-genome resequencing reveals domestication and signatures of selection in Ujimqin, Sunit, and Wu Ranke Mongolian sheep breeds

  • Wang, Hanning;Zhong, Liang;Dong, Yanbing;Meng, Lingbo;Ji, Cheng;Luo, Hui;Fu, Mengrong;Qi, Zhi;Mi, Lan
    • Animal Bioscience
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    • v.35 no.9
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    • pp.1303-1313
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    • 2022
  • Objective: The current study aimed to perform whole-genome resequencing of Chinese indigenous Mongolian sheep breeds including Ujimqin, Sunit, and Wu Ranke sheep breeds (UJMQ, SNT, WRK) and deeply analyze genetic variation, population structure, domestication, and selection for domestication traits among these Mongolian sheep breeds. Methods: Blood samples were collected from a total of 60 individuals comprising 20 WRK, 20 UJMQ, and 20 SNT. For genome sequencing, about 1.5 ㎍ of genomic DNA was used for library construction with an insert size of about 350 bp. Pair-end sequencing were performed on Illumina NovaSeq platform, with the read length of 150 bp at each end. We then investigated the domestication and signatures of selection in these sheep breeds. Results: According to the population and demographic analyses, WRK and SNT populations were very similar, which were different from UJMQ populations. Genome wide association study identified 468 and 779 significant loci from SNT vs UJMQ, and UJMQ vs WRK, respectively. However, only 3 loci were identified from SNT vs WRK. Genomic comparison and selective sweep analysis among these sheep breeds suggested that genes associated with regulation of secretion, metabolic pathways including estrogen metabolism and amino acid metabolism, and neuron development have undergone strong selection during domestication. Conclusion: Our findings will facilitate the understanding of Chinese indigenous Mongolian sheep breeds domestication and selection for complex traits and provide a valuable genomic resource for future studies of sheep and other domestic animal breeding.

Apoptosis of Kinetin Riboside in Colorectal Cancer Cells Occurs by Promoting β-Catenin Degradation

  • TaeKyung Nam;Wonku Kang;Sangtaek Oh
    • Journal of Microbiology and Biotechnology
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    • v.33 no.9
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    • pp.1206-1212
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    • 2023
  • The Wnt/β-catenin pathway plays essential roles in regulating various cellular behaviors, including proliferation, survival, and differentiation [1-3]. The intracellular β-catenin level, which is regulated by a proteasomal degradation pathway, is critical to Wnt/β-catenin pathway control [4]. Normally, casein kinase 1 (CK1) and glycogen synthase kinase-3β (GSK-3β), which form a complex with the scaffolding protein Axin and the tumor suppressor protein adenomatous polyposis coli (APC), phosphorylate β-catenin at Ser45, Thr41, Ser37, and Ser33 [5, 6]. Phosphorylated β-catenin is ubiquitinated by the β-transducin repeat-containing protein (β-TrCP), an F-box E3 ubiquitin ligase complex, and ubiquitinated β-catenin is degraded via a proteasome pathway [7, 8]. Colorectal cancer is a significant cause of cancer-related deaths worldwide. Abnormal up-regulation of the Wnt/β-catenin pathway is a major pathological event in intestinal epithelial cells during human colorectal cancer oncogenesis [9]. Genetic mutations in the APC gene are observed in familial adenomatous polyposis coli (FAP) and sporadic colorectal cancers [10]. In addition, mutations in the N-terminal phosphorylation motif of the β-catenin gene were found in patients with colorectal cancer [11]. These mutations cause β-catenin to accumulate in the nucleus, where it forms complexes with transcription factors of the T-cell factor/lymphocyte enhancer factor (TCF/LEF) family to stimulate the expression of β-catenin responsive genes, such as c-Myc and cyclin D1, which leads to colorectal tumorigenesis [12-14]. Therefore, downregulating β-catenin response transcription (CRT) is a potential strategy for preventing and treating colorectal cancer. Plant cytokinins are N6-substituted purine derivatives; they promote cell division in plants and regulate developmental pathways. Natural cytokinins are classified as isoprenoid (isopentenyladenine, zeatin, and dihydrozeatin), aromatic (benzyladenine, topolin, and methoxytopolin), or furfural (kinetin and kinetin riboside), depending on their structure [15, 16]. Kinetin riboside was identified in coconut water and is a naturally produced cytokinin that induces apoptosis and exhibits antiproliferative activity in several human cancer cell lines [17]. However, little attention has been paid to kinetin riboside's mode of action. In this study, we show that kinetin riboside exerts its cytotoxic activity against colon cancer cells by suppressing the Wnt/β-catenin pathway and promoting intracellular β-catenin degradation.

Associations between Insertion/deletion Polymorphisms in Galactose Mutarotaseand Carcass Traits in the Hanwoo Population of Jeju Island (제주도 한우 집단에서 Galactose mutarotase (GALM) 유전자의 삽입/결실 다형성과 도체형질의 연관성 분석)

  • Yoo-Kyung Kim;Jongan Lee;Sang-Min Shin;Yeoung-Gyu Ko;Ji-Hyun Yoo;Miyoung Won
    • Journal of Life Science
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    • v.33 no.12
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    • pp.987-994
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    • 2023
  • This study examined the associations between the genotypes of the galactose mutarotase (GALM) gene and carcass traits in the Hanwoo population of Jeju Island, South Korea. The GALM genotypes were determined by the 14-bp (5'-GGTCTAATGACCAG-3') insertion/deletion (InDel) polymorphisms of the 3'-untranslated region (UTR). All three genotypes (LL, LS, and SS) were found in the Hanwoo steer population. The association analysis showed significant associations between genotypes and several carcass traits, including traits related to intramuscular fat content, such as meat quality, marbling score, and backfat thickness (p<0.05). Animals harboring the SS genotype showed not only higher levels of intramuscular fat content but also lower levels of backfat thickness than animals harboring the LL and LS genotypes. On the other hand, no significant associations were found between the GALM genotypes and carcass weight, eye muscle area, meat color, or fat color (p>0.05). Deleting the 14-bp segment in the 3'-UTR resulted in the modification of the secondary structure of RNA and appeared to affect gene expression by interfering with the binding ability of GALM mRNA with RNA-binding proteins and microRNAs. These results suggest that the 14-bp InDel polymorphism in the 3'-UTR region of the GALM gene affects cattle growth traits and carcass quality through galactose metabolism-mediated fat accumulation in muscle and backfat tissues.

Long-term and multidisciplinary research networks on biodiversity and terrestrial ecosystems: findings and insights from Takayama super-site, central Japan

  • Hiroyuki Muraoka;Taku M. Saitoh;Shohei Murayama
    • Journal of Ecology and Environment
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    • v.47 no.4
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    • pp.228-240
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    • 2023
  • Growing complexity in ecosystem structure and functions, under impacts of climate and land-use changes, requires interdisciplinary understandings of processes and the whole-system, and accurate estimates of the changing functions. In the last three decades, observation networks for biodiversity, ecosystems, and ecosystem functions under climate change, have been developed by interested scientists, research institutions and universities. In this paper we will review (1) the development and on-going activities of those observation networks, (2) some outcomes from forest carbon cycle studies at our super-site "Takayama site" in Japan, and (3) a few ideas how we connect in-situ and satellite observations as well as fill observation gaps in the Asia-Oceania region. There have been many intensive research and networking efforts to promote investigations for ecosystem change and functions (e.g., Long-Term Ecological Research Network), measurements of greenhouse gas, heat, and water fluxes (flux network), and biodiversity from genetic to ecosystem level (Biodiversity Observation Network). Combining those in-situ field research data with modeling analysis and satellite remote sensing allows the research communities to up-scale spatially from local to global, and temporally from the past to future. These observation networks oftern use different methodologies and target different scientific disciplines. However growing needs for comprehensive observations to understand the response of biodiversity and ecosystem functions to climate and societal changes at local, national, regional, and global scales are providing opportunities and expectations to network these networks. Among the challenges to produce and share integrated knowledge on climate, ecosystem functions and biodiversity, filling scale-gaps in space and time among the phenomena is crucial. To showcase such efforts, interdisciplinary research at 'Takayama super-site' was reviewed by focusing on studies on forest carbon cycle and phenology. A key approach to respond to multidisciplinary questions is to integrate in-situ field research, ecosystem modeling, and satellite remote sensing by developing cross-scale methodologies at long-term observation field sites called "super-sites". The research approach at 'Takayama site' in Japan showcases this response to the needs of multidisciplinary questions and further development of terrestrial ecosystem research to address environmental change issues from local to national, regional and global scales.

A Study on Microbial Community Diversity and Antibiotic Resistance in Public Waters in Gwangju (광주지역 공공수역의 미생물 군집 다양성 및 항생제 내성에 관한 연구)

  • Sun-Jung Kim;Ji-Young Park;Seung-Ho Kim;Min-Hwa Lim;Ji-Yong Yu;Kyu-Sung Han;Se-Il Park;Gwangyeob Seo;Gwangwoon Cho
    • Journal of Environmental Health Sciences
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    • v.50 no.2
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    • pp.93-101
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    • 2024
  • Background: As pollutants caused by non-point sources flow into rivers, river water quality monitoring for fecal pollution is becoming increasingly important. Objectives: This study was conducted to investigate the distribution of microbial communities in the Yeongsangang River water system and sewage treatment plants in Gwangju and to evaluate their antibiotic resistance. Methods: In the experiment, samples were distributed to five selective media at each point and then cultured for 18 to 24 hours. When bacteria were observed, they were sub-cultured by size and shape and identified using MALDI-TOF MS equipment. When identification was completed, 17 types of antibiotic susceptibility tests were performed using VITEK II equipment, focusing on gram-negative dominant species among the identified strains. Results: During the study period, a total of 266 strains were isolated from 39 samples. Gram-positive bacteria were 37 strains in four genera, or 13.9% of the total, and Gram-negative bacteria were 229 strains in 23 genera, or 86.1% of the total. Antibiotic susceptibility testing of 23 strains, the major dominant species, showed that one strain (4.3%) was resistant to only one antibiotic, and two strains (8.7%) were 100% susceptible to the 17 antibiotics tested. The other 20 strains (87.0%) were multidrug resistant bacteria resistant to two or more antibiotics. There were various types of multidrug resistance. Among them, penicillin and cephalosporin series showed the highest resistance. Conclusions: Based on the results of this study, it was found that the bacterial community structure changed according to regional and environmental factors, and it was judged that continuous research such as genetic analysis of antibiotic-resistant bacteria present in natural rivers is necessary.

Community Structure of Pinus densiflora and Quercus mongolica forest in Jochimryeong to Shinbaeryeong of the Baekdudaegan (백두대간 조침령-신배령 구간 소나무림과 신갈나무림의 군락구조)

  • Lee, Ha Young;Kim, Hye Jin;Shin, Hak Sub;Han, Sang Hak;Ko, Seung Yeon;Song, Ju Hyeon;Lee, Jung Hyo;Jang, Kyung Hwan;Yun, Chung Weon
    • Journal of Korean Society of Forest Science
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    • v.103 no.3
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    • pp.339-352
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    • 2014
  • The study was carried out to analyze vegetation structure of Pinus densiflora and Quercus mongolica forests located in Jochimryeong to Shinbaeryeong of the Baekdudaegan mountain range. The survey for 50 plots was conducted from April 2012 to August 2013 in the permanent plots ($100m{\times}100m$) using phytosociological analysis. As a result, the vegetations were classified into five vegetation units. In species composition, they were classified into Q. mongolica community group divided into 2 community such as Fraxinus rhynchophylla community and Carpinus cordata community, F. rhynchophylla community was subdivided Pinus densiflor group (into Euonymus sachalinensis subgroup, Vitis coignetiae subgroup) and Juglans mandshurica group. C. cordata community was subdivided Acer komarovii group and Betula ermanii group. In terms of importance value, P. densiflora and Q. mongolica were more than 20% respectively. P. densiflora was found to have the highest relative coverage. Analysis of interspecific association showed four types which were coincident with differential species and character species on the constancy table. Based on the diameter class distribution, P. densiflora forest presented a normal distribution pattern except for other species which showed a reverse Jshaped distribution pattern, therefore P. densiflora forest would likely be replaced by Q. mongolica forests. While in Q. mongolica forest, diameter class distribution of all species population presented a reverse J-shaped distribution pattern, therefore Q. mongolica forest could likely remain in the future.

Understanding the Legal Structure of German Human Gene Testing Act (GenDG) (독일 유전자검사법의 규율 구조 이해 - 의료 목적 유전자검사의 문제를 중심으로 -)

  • Kim, Na-Kyoung
    • The Korean Society of Law and Medicine
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    • v.17 no.2
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    • pp.85-124
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    • 2016
  • The Human gene testing act (GenDG) in Germany starts from the characteristic features of gene testing, i.e. dualisting structure consisted of anlaysis on the one side and the interpretation on the other side. The linguistic distincion of 'testing', 'anlaysis' and 'judgment' in the act is a fine example. Another important basis of the regulation is the ideological purpose of the law, that is information autonomy. The normative texts as such and the founding principle are the basis of the classification of testing types. Especially in the case of gene testing for medical purpose is classified into testing for diagnostic purpose and predictive purpose. However, those two types are not always clearly differentiated because the predictive value of testing is common in both types. In the legal regulation of gene testing it is therefore important to manage the uncertainty and subjectivity which are inherent in the gene-analysis and the judgment. In GenDG the system ensuring the quality of analysis is set up and GEKO(Commity for gene tisting) based on the section 23 of GenDG concretes the criterium of validity through guidelines. It is also very important in the case of gene testing for medical purpose to set up the system for ensurement of procedural rationality of the interpretation. The interpretation of the results of analysis has a wide spectrum because of the consistent development of technology on the one side and different understandings of different subjects who performs gene testings. Therefore the process should include the communication process for patients in oder that he or she could understand the meaning of gene testing and make plans of life. In GenDG the process of genetic counselling and GEKO concretes the regulation very precisely. The regulation as such in GenDG seems to be very suggestive to Korean legal polic concerning the gene testing.

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Distributional Characteristics and Evaluation of the Population Sustainability, Factors Related to Vulnerability for a Polygonatum stenophyllum Maxim. (층층둥굴레(Polygonatum stenophyllum Maxim.)의 분포특성과 개체군의 위협요인 및 지속가능성 평가)

  • Kim, Young-Chul;Chae, Hyun-Hee;Ahn, Won-Gyeong;Lee, Kyu-Song;Nam, Gi-Heum;Kwak, Myoung-Hai
    • Korean Journal of Environment and Ecology
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    • v.33 no.3
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    • pp.303-320
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    • 2019
  • Plants interact with various biotic and abiotic environmental factors. It requires much information to understand the traits of a plant species. A shortage of information would restrict the assessment, especially in the evaluation of what kind of factors influence a plant species to face extinction. Polygonatum stenophyllum Maxim. is one of the northern plants of which Korea is the southern distribution edge. The Korean Ministry of Environment had designated it to be the endangered species until December 2015. Although it is comparatively widespread, and a large population has recently been reported, it is assessed to be vulnerable due to the low population genetic diversity. This study evaluated the current distribution of Polygonatum stenophyllum Maxim. We investigated the vegetational environment, population structures, phenology, soil environment, and self-incompatibility based on the results. Lastly, we evaluated the current threats observed in the habitats. The habitats tended to be located in the areas where the masses at the edge of the stream accumulated except for those that were located on slopes of some mountainous areas. Most of them showed a stable population structure and had re-established or recruited seedlings. Polygonatum stenophyllum Maxim. had the difference in time when the shoots appeared above the ground depending on the depth of the rhizome located in the underground. In particular, the seedlings and juveniles had their rhizome located shallow in the soil. Visits by pollinator insects and success in pollination were crucial factors for bearing of fruits by Polygonatum stenophyllum Maxim. The threats observed in the habitat of Polygonatum stenophyllum Maxim. included the expansion of cultivated land, construction of new buildings, and construction of river banks and roads. Despite such observed risk factors, it is not likely that there would be rapid population reduction or extinction because of its widespread distribution with the total population of more than 2.7 million individuals and the new populations established by the re-colonization.

Temporal variation in the community structure of green tide forming macroalgae(Chlorophyta; genus Ulva) on the coast of Jeju Island, Korea based on DNA barcoding (DNA 바코드를 이용한 제주도 연안 파래대발생(green tide)을 형성하는 갈파래(genus Ulva) 군집구조 및 주요 종 구성의 시간적 변이)

  • Hye Jin Park;Seo Yeon Byeon;Sang Rul Park;Hyuk Je Lee
    • Korean Journal of Environmental Biology
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    • v.40 no.4
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    • pp.464-476
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    • 2022
  • In recent years, macroalgal bloom occurs frequently in coastal oceans worldwide. It might be attributed to accelerating climate change. "Green tide" events caused by proliferation of green macroalgae (Ulva spp.) not only damage the local economy, but also harm coastal environments. These nuisance events have become common across several coastal regions of continents. In Korea, green tide incidences are readily seen throughout the year along the coastlines of Jeju Island, particularly the northeastern coast, since the 2000s. Ulva species are notorious to be difficult for morphology-based species identification due to their high degrees of phenotypic plasticity. In this study, to investigate temporal variation in Ulva community structure on Jeju Island between 2015 and 2020, chloroplast barcode tufA gene was sequenced and phylogenetically analyzed for 152 specimens from 24 sites. We found that Ulva ohnoi and Ulva pertusa known to be originated from subtropical regions were the most predominant all year round, suggesting that these two species contributed the most to local green tides in this region. While U. pertusa was relatively stable in frequency during 2015 to 2020, U. ohnoi increased 16% in frequency in 2020 (36.84%), which might be associated with rising sea surface temperature from which U. ohnoi could benefit. Two species (Ulva flexuosa, Ulva procera) of origins of Europe should be continuously monitored. The findings of this study provide valuable information and molecular genetic data of genus Ulva occurring in southern coasts of Korea, which will help mitigate negative influences of green tide events on Korea coast.

Genetic Polymorphisms of the $\beta_2$-Adrenergic Receptor in the Severity of Bronchial Asthma (기관지 천식 환자에서 천식 증상의 정도에 따른 $\beta_2$ 교감신경 수용체의 유전자 다형성)

  • Shim, Jae-Jeong;Kim, Jei-Hyung;Lee, Seung-Yong;Kwan, Young-Hwan;Lee, So-Ra;Lee, Sang-Youb;Kang, Se-Yong;Kang, Yong-Koo;Cho, Jae-Youn;In, Kwang-Ho;Won, Nam-Hee;Yoo, Se-Hwa;Kang, Kyung-Ho
    • Tuberculosis and Respiratory Diseases
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    • v.45 no.1
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    • pp.77-89
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    • 1998
  • Background: Genetic and environmental factors are known to affect the incidence and severity of asthma. Stimulation of $\beta_2$-Adrenergic Receptor ($\beta_2$AR) results in smooth muscle relaxation, leading to decrease in resistance of airflow. The gene encoding the $\beta_2$AR has recently been seguenced. The $\beta_2$AR genotype at the polymorphic loci of codons 16, 27, 34, and 164 was known to cause changes in the amino acids. The relationships between the structure of the $\beta_2$AR and its functions are being elucidated. Purpose : The gene encoding the $\beta_2$AR was carried out to assess the frequency of polymorphisms in bronchial asthma, to determine wheather these polymorphisms have any relation to the severity, or nocturnal symptoms in bronchial asthma. Methods: The subjects studied were 103 patients with bronchial asthma, which consisted of 30 mild episodic, 32 mild persistent, 17 moderate, and 24 severe asthma patients. The polymorphisms of the $\beta_2$AR gene were detected by mutated allele specific amplification (MASA) method at the codons 16,27,34, and 164. Results: The most frequent polymorphism was arginine 16 to glycine. The other two polymorphisms, valine 34 to methionine and glutamine 27 to glutamic acid occured in 11 and 6 patients respectively. The polymorphism of threonine 164 to isoleucine was not found in our enrolled patients. The homozygous polymorphism of $\beta_2$AR gene was found in only arginine 16 to glycine (12.6%). The heterozygous polymorphisms of $\beta_2$AR gene were in arginine 16 to glycine, valine 34 to methionine, and glutamine 27 to glutamic acid, as 65.1 %,10.7%, and 5.8% respectively in asthma patients. The presence of agrginine 16 to glycine heterozygous or/and homozygous polymorphism was associated in severe asthma (p=0.015), but there was no association between the other three polymorphisms and the severity of asthma. The frequency of the $\beta_2$AR gene polymorphisms was no relation in nocturnal asthma as compared with non-nocturnal asthma. Conclusion: The arginine 16 to glycine polymorphism of the $\beta_2$AR gene is the most frequently found in asthma patients and association with severe asthma. But there was no association between the polymorphism of the $\beta_2$AR gene and nocturnal asthma.

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