• Title/Summary/Keyword: genome

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Association of Common Vitamin D Receptor Gene Variations with Fracture Risk and Bone Mineral Density in Postmenopausal Korean Population

  • Hwang, Joo-Yeon;Lee, Seung Hun;Kim, Ghi-Su;Koh, Jung-Min;Go, Min-Jin;Kim, Tae-Ho;Hong, Jung-Min;Park, Eui-Kyun;Kim, Shin-Yoon;Lee, Jong-Young
    • Genomics & Informatics
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    • v.7 no.1
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    • pp.13-19
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    • 2009
  • Osteoporosis is characterized by impaired osteogenesis. BMD is a major determinant of bone strength. The role of the VDR gene in predisposition to primary osteoporosis has been recognized. However, population-based case-control studies have been reported controversial results for known candidate genes in an ethnically distinct group. To determine the genetic effects of VDR variants on osteoporosis and BMD, we directly sequenced the VDR gene in 24 unrelated Korean individuals and identified eighteen sequence variants. We investigated the potential involvement of eight SNPs in osteoporosis in postmenopausal women (n = 729). Two SNPs (LD) in intron 2, -5294G>C (rs2238135) and -4817G>A (rs17882443) showed the evidence of association with enhanced BMD of the femoral neck ($p_{additive}$=0.031 for rs2238135; $p_{additive}$=0.017 and $p_{dominant}$= 0.019 for 17882443). Moreover, VDR -4817G>A was significantly associated with protective effect on all fracture risk ($p_{recessive}$=0.035, OR=0.2, 95% CI=$0.05{\sim}0.89$), and tended to be higher BMD values at various proximal femur sites. Therefore, we suggest that the -4817G>A may be useful genetic marker for vitamin D-related metabolism and may have an important role in the increased BMD of the proximal femur in postmenopausal Korean women.

A Survey of the Brassica rapa Genome by BAC-End Sequence Analysis and Comparison with Arabidopsis thaliana

  • Hong, Chang Pyo;Plaha, Prikshit;Koo, Dal-Hoe;Yang, Tae-Jin;Choi, Su Ryun;Lee, Young Ki;Uhm, Taesik;Bang, Jae-Wook;Edwards, David;Bancroft, Ian;Park, Beom-Seok;Lee, Jungho;Lim, Yong Pyo
    • Molecules and Cells
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    • v.22 no.3
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    • pp.300-307
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    • 2006
  • Brassica rapa ssp. pekinensis (Chinese cabbage) is an economically important crop and a model plant for studies on polyploidization and phenotypic evolution. To gain an insight into the structure of the B. rapa genome we analyzed 12,017 BAC-end sequences for the presence of transposable elements (TEs), SSRs, centromeric satellite repeats and genes, and similarity to the closely related genome of Arabidopsis thaliana. TEs were estimated to occupy 14% of the genome, with 12.3% of the genome represented by retrotransposons. It was estimated that the B. rapa genome contains 43,000 genes, 1.6 times greater than the genome of A. thaliana. A number of centromeric satellite sequences, representing variations of a 176-bp consensus sequence, were identified. This sequence has undergone rapid evolution within the B. rapa genome and has diverged among the related species of Brassicaceae. A study of SSRs demonstrated a non-random distribution with a greater abundance within predicted intergenic regions. Our results provide an initial characterization of the genome of B. rapa and provide the basis for detailed analysis through whole-genome sequencing.

Advances of Genome Research in Livestock Animals (경제동물 유전체학 연구의 최근 연구 동향)

  • Song, Ki-Duk;Cho, Byung-Wook
    • Journal of Life Science
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    • v.18 no.4
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    • pp.572-579
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    • 2008
  • Genome research in economic animals has progressed rapidly in recent years, transforming from primitive genome maps to quantitative/qualitative trait maps that are indispensable to gene discovery. These advances have been benefited from the result of animal genome sequencing projects and functional genomics that are being extensively applied in livestock animal research following the development of large expressed sequences tags (ESTs). Genome sequencing efforts will provide information to QTL study by larger scale single nucleotide polymorphisms (SNPs) association study. Comparative genomics which is applying the information from human genome research as well as rodents model has contributed to important discoveries in economic animal genome research. These efforts will speed up much denser QTL maps development for phenotypic traits which are not easy to measure and to be identified by quantitative genetics [20] and lead to development of convincing markers associated with economically important trait, which will be eventually applied to livestock industry. In addition to practical application, animal genome research will enrich the understanding of human physiology in terms of genome biology.

"The Korean Genome for Asian Health": A Commercialization Strategy of the Korean Genome Projects ("아시아인 건강을 위한 한국인 게놈" : 한국인 유전체 프로젝트의 상업화 전략)

  • HYUN, Jaehwan
    • Journal of Science and Technology Studies
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    • v.19 no.2
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    • pp.117-167
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    • 2019
  • Since a working draft sequence mapping of the human genome was published in 2001, the variety of the national genome projects has been initiated in South Korea. One of the rationales for such projects is that "the Korean genome database" will be used for "the personalized medicine for Asians." By focusing on the development of human genomics in this country, this paper examines how the discourse has emerged as a strategy for commercializing the national genome. The paper argues that Korean genomicists developed this strategy under the influences of the global "genome sovereignty" policy and local "Asian regionalist" science policy. It will contribute to the literature of the "Asian" race and genomics by shedding new light on the historical formation of the Pan-Asian Single Nucleotide Polymorphism(PASNP) consortium beyond the Singaporean experience.

Genome size of 15 Lamiaceae taxa in Korea (한국산 꿀풀과 15 분류군에 대한 유전체양 조사)

  • Lee, Yoonkyung;Kim, Sangtae
    • Korean Journal of Plant Taxonomy
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    • v.47 no.2
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    • pp.161-169
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    • 2017
  • The genome size is one of the basic characters of an organism, and it is widely applied in various fields of biology, such as systematics, breeding biology, population biology, and evolutionary biology. This factor was recently highlighted in genome studies because choosing a representative of a plant group having the smallest genome size is important for the efficiency of a genome project. For the estimation of the genome size, flow cytometry has recently been highlighted because it is a convenient, fast, and reliable method. In this study, we report the genome sizes of 15 taxa of Lamiaceae from nine genera distributed in Korea using flow cytometry. Data pertaining to the genome size for all of our species have not been reported thus far, and the data from Agastache, Clinopodium, Elsholtzia, and Isodon are the first reported for each genus. The genome sizes of 15 genera and 39 species were reported to the Plant DNA C-values Database (http://data.kew.org/cvalues/). Scutellaria indica L. has a genome size of 0.37 pg (1C). This is the fourth smallest value among the 98 Lamiaceae taxa in the Angiosperm DNA C-value Database, indicating that this taxon can be used as a reference species in the genome studies in Lamiaceae as a native Korean species. The largest genome size observed in this study is in Phlomis umbrosa Turcz. (1C=2.60 pg), representing the possible polyploidy origin of this species in the family.

High-quality draft genome and characterization of commercially potent probiotic Lactobacillus strains

  • Sulthana, Ayesha;Lakshmi, Suvarna G.;Madempudi, Ratna Sudha
    • Genomics & Informatics
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    • v.17 no.4
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    • pp.43.1-43.5
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    • 2019
  • Lactobacillus acidophilus UBLA-34, L. paracasei UBLPC-35, L. plantarum UBLP-40, and L. reuteri UBLRU-87 were isolated from different varieties of fermented foods. To determine the probiotic safety at the strain level, the whole genome of the respective strains was sequenced, assembled, and characterized. Both the core-genome and pan-genome phylogeny showed that L. reuteri was closest to L. plantarum than to L. acidophilus, which was closest to L. paracasei. The genomic analysis of all the strains confirmed the absence of genes encoding putative virulence factors, antibiotic resistance, and the plasmids.

Genome Analysis of Phage SMSAP5 as Candidate of Biocontrol for Staphylococcus aureus

  • Lee, Young-Duck;Park, Jong-Hyun
    • Food Science of Animal Resources
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    • v.35 no.1
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    • pp.86-90
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    • 2015
  • In this study, we reported the morphogenetic analysis and genome sequence by genomic analysis of the newly isolated staphylococcal phage SMSAP5 from soil of slaughterhouses for cattle. Based on transmission electron microscopy evident morphology, phage SMSAP5 belonged to the Siphoviridae family. Phage SMSAP5 had a double-stranded DNA genome with a length of 45,552 bp and 33 % G+C content. Bioinformatics analysis of the phage genome revealed 43 open reading frames. A blastn search revealed that its nucleotide sequence shared a high degree of similarity with that of the Staphylococcus phage tp310-2. In conclusion, this study is the first report to show the morphological features and the complete genome sequence of the phage SMSAP5 from soil of slaughterhouses for cattle.

In Silico Identification of 6-Phosphogluconolactonase Genes that are Frequently Missing from Completely Sequenced Bacterial Genomes

  • Jeong, Hae-Young;F. Kim, Ji-Hyun;Park, Hong-Seog
    • Genomics & Informatics
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    • v.4 no.4
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    • pp.182-187
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    • 2006
  • 6-Phosphogluconolactonase (6PGL) is one of the key enzymes in the ubiquitous pathways of central carbon metabolism, but bacterial 6PGL had been long known as a missing enzyme even after complete bacterial genome sequence information became available. Although recent experimental characterization suggests that there are two types of 6PGLs (DevB and YbhE), their phylogenetic distribution is severely biased. Here we present that proteins in COG group previously described as 3-oarboxymuconate cyclase (COG2706) are actually the YbhE-type 6PGLs, which are widely distributed in Proteobacteria and Fimicutes. This case exemplifies how erroneous functional description of a member in the reference database commonly used in transitive genome annotation cause systematic problem in the prediction of genes even with universal cellular functions.

Copy Number Variations in the Human Genome: Potential Source for Individual Diversity and Disease Association Studies

  • Kim, Tae-Min;Yim, Seon-Hee;Chung, Yeun-Jun
    • Genomics & Informatics
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    • v.6 no.1
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    • pp.1-7
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    • 2008
  • The widespread presence of large-scale genomic variations, termed copy number variation (CNVs), has been recently recognized in phenotypically normal individuals. Judging by the growing number of reports on CNVs, it is now evident that these variants contribute significantly to genetic diversity in the human genome. Like single nucleotide polymorphisms (SNPs), CNVs are expected to serve as potential biomarkers for disease susceptibility or drug responses. However, the technical and practical concerns still remain to be tackled. In this review, we examine the current status of CNV DBs and research, including the ongoing efforts of CNV screening in the human genome. We also discuss the characteristics of platforms that are available at the moment and suggest the potential of CNVs in clinical research and application.