• Title/Summary/Keyword: population genetics

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MYLK Polymorphism Associated with Blood Eosinophil Level among Asthmatic Patients in a Korean Population

  • Lee, Soo Ok;Cheong, Hyun Sub;Park, Byung Lae;Bae, Joon Seol;Sim, Won Chul;Chun, Ji-Yong;Isbat, Mohammad;Uh, Soo-Taek;Kim, Yong Hooun;Jang, An-Soo;Park, Choon-Sik;Shin, Hyoung Doo
    • Molecules and Cells
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    • v.27 no.2
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    • pp.175-181
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    • 2009
  • The myosin light chain kinase (MYLK) gene encodes both smooth muscle and nonmuscle cell isoforms. Recently, polymorphisms in MYLK have been reported to be associated with several diseases. To examine the genetic effects of polymorphisms on the risk of asthma and related phenotypes, we scrutinized MYLK by re-sequencing/genotyping and statistical analysis in Korean population (n = 1,015). Seventeen common polymorphisms located in or near exons, having pairwise $r^2$ values less than 0.25, were genotyped. Our statistical analysis did not replicate the associations with the risk of asthma and log-transformed total IgE levels observed among African descendant populations. However, two SNPs in intron 16 (+89872C> G and +92263T> C), which were in tight LD (|D'| = 0.99), revealed significant association with log-transformed blood eosinophil level even after correction multiple testing ($P=0.002/P^{corr}=0.01$ and $P=0.002/P^{corr}=0.01$, respectively). The log-transformed blood eosinophil levels were higher in individuals bearing the minor alleles for +89872C> G and +92263T> C than in those bearing other allele. In additional subgroup analysis, the genetic effects of both SNPs were much more apparent among asthmatic patients and atopic asthma patients. Among atopic asthma patients, the log-transformed blood eosinophil levels were proportionally increased by gene-dose dependent manner of in both +89872C> G and +92263T> C(P = 0.0002 and P = 0.00007, respectively). These findings suggest that MYLK polymorphisms might be among the genetic factors underlying differential increases of blood eosinophil levels among asthmatic patients. Further biological and/or functional studies are needed to confirm our results.

Effect of Proportion of Recorded Cows Inseminated by Young A. I. Bulls on Genetic Improvement in Japanese Holstein Population

  • Terawaki, Y.;Shimizu, H.;Fukui, Y.
    • Asian-Australasian Journal of Animal Sciences
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    • v.11 no.4
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    • pp.410-415
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    • 1998
  • The effects of the proprotion of cows inseminated by young A. I. bulls on genetic improvement in the Japanese Holstein population were examined using a simulation technique. The proportion of recorded cows inseminated by young A. I. bulls was assumed to be from 10% to 100% of the total number of recorded cows. The expected total genetic improvement was estimated for all cows and recorded and non recorded cows. The effects of the above were remarkable in the schemes that proven sires were used to produce recorded and non recorded cows for a limited time. Also the increase in the rates for -the expected total genetic improvement was larger when the proportion of recorded cows that were inseminated by young A. I. bulls was about 10% to 40%. When the expected total genetic improvement was estimated for the entire population, we found that the highest values were in a range of about 40 to 60% recorded cows that were inseminated by young A. I. bulls. On the other hand, the expected total genetic improvement that was only estimated in recorded cows dramatically decreased for more than 40% of the recorded cows. The results of this study showed that the optimal proportion of recorded cows inseminated with young A. I. bulls should be about 30% in the Japanese Holstein population.

Genetic Diversity and Dye-Decolorizing Spectrum of Schizophyllum commune Population

  • Choi, Yongjun;Nguyen, Ha Thi Kim;Lee, Tae Soo;Kim, Jae Kwang;Choi, Jaehyuk
    • Journal of Microbiology and Biotechnology
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    • v.30 no.10
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    • pp.1525-1535
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    • 2020
  • Synthetic dyes are widely used in various industries and their wastage causes severe environmental problems while being hazardous to human health, leading to the need for eco-friendly degradation techniques. The split-gill fungus Schizophyllum commune, which is found worldwide, has the potential to degrade all components of the lignocellulosic biomass and is a candidate for the treatment of synthetic dyes. A systematic molecular analysis of 75 Korean and 6 foreign S. commune strains has revealed the high genetic diversity of this population and its important contribution to the total diversity of S. commune. We examined the dye decolorization ability of this population and revealed 5 excellent strains that strongly decolorized 3 dyes: Crystal Violet, Congo Red and Methylene Blue. Finally, comparison of dye decolorization ability and the phylogenetic identification of these strains generalized their genetic and physiological diversity. This study provides an initial resource for physiological and genetic research projects as well as the bioremediation of textile dyes.

Development and validation of microsatellite markers for the endangered red-spotted apollo butterfly, Parnassius bremeri (Lepidoptera: Papilionidae), in South Korea

  • Kim, Min Jee;Jeong, Su Yeon;Kim, Sung Soo;Kim, Iksoo
    • International Journal of Industrial Entomology and Biomaterials
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    • v.35 no.1
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    • pp.30-38
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    • 2017
  • The red-spotted apollo butterfly, Parnassius bremeri Bremer, 1864 (Lepidoptera: Papilionidae), is an endangered species in South Korea. Development and application of molecular markers to assess population genetics perspectives can be used as a basis to establish effective conservation strategies. In this study, we developed 12 microsatellite markers specific to P. bremeri using Illumina paired-end sequencing and applied the markers to South Korean populations to understand population characteristics. Genotyping of 40 P. bremeri individuals from three localities showed that at each locus, the observed number of alleles ranged from 6 to 22 and the observed and expected heterozygosities were 0.500-1.00 and 0.465 to 0.851, respectively. Significant deviation from the Hardy-Weinberg equilibrium was not observed in all loci studied. The population based $F_{ST}$ and $R_{ST}$ collectively suggest that at least the Samcheok population in northernmost Gangwon Province has a significant divergence from the remaining two populations (P < 0.01), and this result is also reflected in the forewing length. Further studies with an increased sample size will be necessary to draw robust conclusions and devise conservation strategies.

EvoSNP-DB: A database of genetic diversity in East Asian populations

  • Kim, Young Uk;Kim, Young Jin;Lee, Jong-Young;Park, Kiejung
    • BMB Reports
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    • v.46 no.8
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    • pp.416-421
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    • 2013
  • Genome-wide association studies (GWAS) have become popular as an approach for the identification of large numbers of phenotype-associated variants. However, differences in genetic architecture and environmental factors mean that the effect of variants can vary across populations. Understanding population genetic diversity is valuable for the investigation of possible population specific and independent effects of variants. EvoSNP-DB aims to provide information regarding genetic diversity among East Asian populations, including Chinese, Japanese, and Korean. Non-redundant SNPs (1.6 million) were genotyped in 54 Korean trios (162 samples) and were compared with 4 million SNPs from HapMap phase II populations. EvoSNP-DB provides two user interfaces for data query and visualization, and integrates scores of genetic diversity (Fst and VarLD) at the level of SNPs, genes, and chromosome regions. EvoSNP-DB is a web-based application that allows users to navigate and visualize measurements of population genetic differences in an interactive manner, and is available online at [http://biomi.cdc.go.kr/EvoSNP/].

Frequency of the Angiotensin - Converting Enzyme (ACE) Gene Polymorphism in the General Population and the Elite Endurance Students in Korea

  • Choung, Ho-Jin;Yoon, Song-Ro;Choi, Soo-Kyung
    • Journal of Genetic Medicine
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    • v.3 no.1
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    • pp.11-13
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    • 1999
  • Recently it was reported that Insertion/Deletion polymorphism in the gene coding for Angiotensin-Converting Enzyme (ACE) is associated with human capacity for physical performance. This study was performed to genotyping of the ACE gene to determine the correlation between elite endurance performance and ACE I/D gene polymorphism. DNA sample was obtained from peripheral blood, hair roots and mouth epithelial cell in 739 general population and 200 elite athletic performance students. The ACE gene was amplified by polymerase chain reaction (PCR) using allele specific oligonucleotide primers. 155, 525 bp and 237 bp PCR products indicating the presence of insertion(I) and deletion(D) alleles, respectively, were clearly resolved after electrophoresis on a 2% agarose gel with ethidium bromide. Of the 200 elite athletic performance population subjects, 68(34%) showed ACE genotype 11,100(50%) genotype ID and 32(16%) genotype DD. Of the 739 general population subjects, 259(35.1%) showed ACE genotype 11,363(49.1%) genotype ID and 117(15.8%) genotype DD. Therefore ACE I/D gene polymorphism was not associated with human capacity for physical performance.(p>0.05)

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Kelps in Korea: from population structure to aquaculture to potential carbon sequestration

  • Hwang, Eun Kyoung;Boo, Ga Hun;Graf, Louis;Yarish, Charles;Yoon, Hwan Su;Kim, Jang Kyun
    • ALGAE
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    • v.37 no.2
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    • pp.85-103
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    • 2022
  • Korea is one of the most advanced countries in kelp aquaculture. The brown algae, Undaria pinnatifida and Saccharina japonica are major aquaculture species and have been principally utilized for human food and abalone feed in Korea. This review discusses the diversity, population structure and genomics of kelps. In addition, we have introduced new cultivar development efforts considering climate change, and potential carbon sequestration of kelp aquaculture in Korea. U. pinnatifida showed high diversity within the natural populations but reduced genetic diversity in cultivars. However, very few studies of S. japonica have been conducted in terms of population structure. Since studies on cultivar development began in early 2000s, five U. pinnatifida and one S. japonica varieties have been registered to the International Union for the Protection of New Varieties of Plants (UPOV). To meet the demands for seaweed biomass in various industries, more cultivars should be developed with specific traits to meet application demands. Additionally, cultivation technologies should be diversified, such as integrated multi-trophic aquaculture (IMTA) and offshore aquaculture, to achieve environmental and economic sustainability. These kelps are anticipated to be important sources of blue carbon in Korea.

Development and validation of microsatellite markers for the endangered nerippe fritillary butterfly, Argynnis nerippe (Lepidoptera: Nymphalidae)

  • Jeong, Su Yeon;Kim, Min Jee;Kim, Sung Soo;Kim, Iksoo
    • International Journal of Industrial Entomology and Biomaterials
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    • v.37 no.1
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    • pp.1-8
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    • 2018
  • The nerippe fritillary butterfly, Argynnis nerippe, is listed as an endangered species in Korea. Establishment of effective conservation strategies can be aided by the development and application of molecular markers that can be used to investigate the population genetics of the butterfly. Therefore, in this study, we identified ten microsatellite markers specific to A. nerippe using the Next-Seq 500 platform, and applied these markers to investigate the characteristics of five South Korean butterfly populations. Genotyping of 48 A. nerippe individuals from five localities showed that at each locus the number of alleles ranged from 4 to 14, and that the observed and expected heterozygosities were 0.324-0.863 and 0.138-0.985, respectively. Significant deviation from the Hardy-Weinberg equilibrium was not observed at any locus. Population structure analysis indicated that there are two genetic groups in Korea, but no population-based gene pool assignments were found. Analysis of $F_{ST}$, $R_{ST}$, and a principal coordinates analysis suggested that the Gureopdo and Yaecheon populations were isolated from other populations. Genetic isolation of the Gureopdo population may be a consequence of unequal population change between Gureopdo and inland populations and to the offshore habitat of Gureopdo. Genetic isolation of the Yaecheon population may be a consequence either of the southernmost location of the population or of the limited sample size available. Further studies with increased sample sizes will be necessary to draw robust conclusions on population isolation and to devise conservation strategies.