• Title/Summary/Keyword: SNP

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Genome-wide analysis of sequence variations in eight inbred watermelon lines (수박계통간 염색체수준의 유전적변이 분석)

  • Kim, Youn-Sung;Ko, Chan-Sup;Yang, Hee-Beom;Kang, Sun-Chul
    • Journal of Plant Biotechnology
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    • v.43 no.2
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    • pp.164-173
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    • 2016
  • To investigate the genetic basis of phenotypic differences, sequence variations were analyzed in 8 inbred watermelon lines by re-sequencing. The number of sequence variations differed depending on the chromosome. Only 12.9% of SNPs were found within genes, whereas the rest were detected in promoter or intergenic regions. SNP density analysis showed that there was a highly variable region at the end of chromosome 6, which is similar to previously published findings. However, this region with high SNP density did not show much variation between the lines. In contrast, highly conserved regions with a size of 6.5-10 Mb were found in chromosomes 10 and 11. Pathway analysis suggested that the DIMBOA (a natural antibiotic)-glucoside degradation pathway was significantly different between the lines, indicating that the eight lines may have different levels of pathogen resistance. Among the carbohydrate-related genes, the alpha-galactosidase gene was the most variable among the lines. Information from this study will be helpful in understanding the watermelon breeding process at the molecular level.

Detection of SNPs using electrical biased method on diamond FETs (다이아몬드 FETs에서 전기적 바이어스 방법을 이용한 단일염기 다형성(SNPs) 검출)

  • Song, Kwang Soup
    • Journal of the Institute of Electronics and Information Engineers
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    • v.52 no.3
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    • pp.190-195
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    • 2015
  • The detection of single nucleotide polymorphisms (SNPs) caused of mutant or genetic diseases is important to diagnosis and medicine. There are many methods have been proposed to detect SNPs. However the detection of SNPs is difficulty, because the difference of energy between complementary DNA (cDMA) and SNPs is very small. In this work, we detect the SNPs using field-effect transistors (FETs) which based on the detection of negative charge of DNA. We bias -0.3 V on the drain-source electrode at the target DNA hybridization process. The efficiency of hybridization and the amplitude of signal decrease by repulsive force between negative charge of DNA and negative bias on the electrode. However, the sensitivity of SNPs increases about 5 times from 1.7 mV to 8.7 mV.

The Korean HapMap Project Website

  • Kim, Young-Uk;Kim, Seung-Ho;Jin, Hoon;Park, Young-Kyu;Ji, Mi-Hyun;Kim, Young-Joo
    • Genomics & Informatics
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    • v.6 no.2
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    • pp.91-94
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    • 2008
  • Single nucleotide polymorphisms (SNPs) are the most abundant form of human genetic variation and are a resource for mapping complex genetic traits. A genome is covered by millions of these markers, and researchers are able to compare which SNPs predominate in people who have a certain disease. The International HapMap Project, launched in October, 2002, motivated us to start the Korean HapMap Project in order to support Korean HapMap infrastructure development and to accelerate the finding of genes that affect health, disease, and individual responses to medications and environmental factors. A Korean SNP and haplotype database system was developed through the Korean HapMap Project to provide Korean researchers with useful data-mining information about disease-associated biomarkers for studies on complex diseases, such as diabetes, cancer, and stroke. Also, we have developed a series of software programs for association studies as well as the comparison and analysis of Korean HapMap data with other populations, such as European, Chinese, Japanese, and African populations. The developed software includes HapMapSNPAnalyzer, SNPflank, HWE Test, FESD, D2GSNP, SNP@Domain, KMSD, KFOD, KFRG, and SNP@WEB. We developed a disease-related SNP retrieval system, in which OMIM, GeneCards, and MeSH information were integrated and analyzed for medical research scientists. The kHapMap Browser system that we developed and integrated provides haplotype retrieval and comparative study tools of human ethnicities for comprehensive disease association studies (http://www.khapmap.org). It is expected that researchers may be able to retrieve useful information from the kHapMap Browser to find useful biomarkers and genes in complex disease association studies and use these biomarkers and genes to study and develop new drugs for personalized medicine.

A SNP Harvester Analysis to Better Detect SNPs of CCDC158 Gene That Are Associated with Carcass Quality Traits in Hanwoo

  • Lee, Jea-Young;Lee, Jong-Hyeong;Yeo, Jung-Sou;Kim, Jong-Joo
    • Asian-Australasian Journal of Animal Sciences
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    • v.26 no.6
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    • pp.766-771
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    • 2013
  • The purpose of this study was to investigate interaction effects of genes using a Harvester method. A sample of Korean cattle, Hanwoo (n = 476) was chosen from the National Livestock Research Institute of Korea that were sired by 50 Korean proven bulls. The steers were born between the spring of 1998 and the autumn of 2002 and reared under a progeny-testing program at the Daekwanryeong and Namwon branches of NLRI. The steers were slaughtered at approximately 24 months of age and carcass quality traits were measured. A SNP Harvester method was applied with a support vector machine (SVM) to detect significant SNPs in the CCDC158 gene and interaction effects between the SNPs that were associated with average daily gains, cold carcass weight, longissimus dorsi muscle area, and marbling scores. The statistical significance of the major SNP combinations was evaluated with $x^2$-statistics. The genotype combinations of three SNPs, g.34425+102 A>T(AA), g.4102636T>G(GT), and g.11614-19G>T(GG) had a greater effect than the rest of SNP combinations, e.g. 0.82 vs. 0.75 kg, 343 vs. 314 kg, 80.4 vs $74.7cm^2$, and 7.35 vs. 5.01, for the four respective traits (p<0.001). Also, the estimates were greater compared with single SNPs analyzed (the greatest estimates were 0.76 kg, 320 kg, $75.5cm^2$, and 5.31, respectively). This result suggests that the SNP Harvester method is a good option when multiple SNPs and interaction effects are tested. The significant SNPs could be applied to improve meat quality of Hanwoo via marker-assisted selection.

Identification and characterization of novel single nucleotide polymorphism markers for fat deposition in muscle tissue of pigs using amplified fragment length polymorphism

  • Supakankul, Pantaporn;Kumchoo, Tanavadee;Mekchay, Supamit
    • Asian-Australasian Journal of Animal Sciences
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    • v.30 no.3
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    • pp.338-346
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    • 2017
  • Objective: This study was conducted to identify and evaluate the effective single nucleotide polymorphism (SNP) markers for fat deposition in the longissimus dorsi muscles of pigs using the amplified fragment length polymorphism (AFLP) approach. Methods: Sixty-four selective primer combinations were used to identify the AFLP markers in the 20 highest- and 20 lowest-intramuscular fat (IMF) content phenotypes. Five AFLP fragments were converted into simple codominant SNP markers. These SNP markers were tested in terms of their association with IMF content and fatty acid (FA) composition traits in 620 commercially crossbred pigs. Results: The SSC7 g.4937240C>G marker showed an association with IMF content (p<0.05). The SSC9 g.5496647_5496662insdel marker showed a significant association with IMF content and arachidonic levels (p<0.05). The SSC10 g.71225134G>A marker revealed an association with palmitoleic and ${\omega}9$ FA levels (p<0.05), while the SSC17 g.61976696G>T marker showed a significant association with IMF content and FA levels of palmitoleic, eicosenoic, arachidonic, monounsaturated fatty acids, and ${\omega}9$ FA levels. However, no significant association of SSC8 g.47338181G>A was observed with any IMF and FA levels in this study. Conclusion: Four SNP markers (SSC7 g.4937240C>G, SSC9 g.5496647_5496662insdel, SSC10 g.71225134G>A, and SSC17 g.61976696G>T) were found to be associated with IMF and/or FA content traits in commercially crossbred pigs. These findings provide evidence of the novel SNP markers as being potentially useful for selecting pigs with the desirable IMF content and FA composition.

Involvement of nitric oxide-induced NADPH oxidase in adventitious root growth and antioxidant defense in Panax ginseng

  • Tewari, Rajesh Kumar;Kim, Soohyun;Hahn, Eun-Joo;Paek, Kee-Yoeup
    • Plant Biotechnology Reports
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    • v.2 no.2
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    • pp.113-122
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    • 2008
  • Nitric oxide (NO) affects the growth and development of plants and also affects plant responses to various stresses. Because NO induces root differentiation, we examined whether or not it is involved in increased ROS generation. Treatments with sodium nitroprusside (SNP), an NO donor, 2-phenyl-4,4,5,5-tetramethylimidazoline-1-oxyl-3-oxide (PTIO), a specific NO scavenger, and $N{\omega}-nitro-{\text\tiny{L}}-arginine$ methyl ester hydrochloride (${\text\tiny{L}}-NAME$), an NO synthase (NOS) inhibitor, revealed that NO is involved in the adventitious root growth of mountain ginseng. Supply of an NO donor, SNP, activates NADPH oxidase activity, resulting in increased generation of $O_2{^{{\cdot}-}}$, which subsequently induces growth of adventitious roots. Moreover, treatment with diphenyliodonium chloride (DPI), an NADPH oxidase inhibitor, individually or with SNP, inhibited root growth, NADPH oxidase activity, and $O_2{^{{\cdot}-}}$ anion generation. Supply of the NO donor, SNP, did not induce any notable isoforms of enzymes; it did, however, increase the activity of pre-existing bands of NADPH oxidase, superoxide dismutase, catalase, peroxidase, ascorbate peroxidase, and glutathione reductase. Enhanced activity of antioxidant enzymes induced by SNP supply seems to be responsible for a low level of $H_2O_2$ in the adventitious roots of mountain ginseng. It was therefore concluded that NO-induced generation of $O_2{^{{\cdot}-}}$ by NADPH oxidase seems to have a role in adventitious root growth of mountain ginseng. The possible mechanism of NO involvement in $O_2{^{{\cdot}-}}$ generation through NADPH oxidase and subsequent root growth is discussed.

Identification of Hanwoo Using 3'-tailed Primer Associated with Single Nucleotide Polymorphism(SNP) in Melanocortin 1 Receptor(MC1R) gene (소 모색관련 MC1R 유전자의 SNP와 관련한 3'-tailed primer를 이용한 한우육의 판별)

  • Kim, T.J.;Park , S.D.;Lee , J. I.
    • Journal of Animal Science and Technology
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    • v.46 no.6
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    • pp.897-902
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    • 2004
  • To improve the methods used for the identification of Hanwoo, we performed a PCR using 3 -tailed primer associated with single nucleotide polymorphism(SNP) in Melanocortin 1 receptor(MCIR) gene. MCIR plays an important role in melanin synthesis and the SNP within MCIR was used as a target for PCRRFLP studies previously. A forward 3 -tailed primer, which matches with the template DNA of Hanwoo but not with others(blackhaired; Holstein and Black angus) at the site of 594th base sequence, and one reverse primer were designed for this study. When use this primer set, a size of 343bp was amplified by PCR only in Hanwoo, not in Holstein and Black angus. This result suggests that the PCR using our 3 -tailed primer would be very accurate, easy, reproducible and economic method to discriminate between Hanwoo meat and other black-haired ones.

Comparison of SNP Variation and Distribution in Indigenous Ethiopian and Korean Cattle (Hanwoo) Populations

  • Edea, Zewdu;Dadi, Hailu;Kim, Sang-Wook;Dessie, Tadelle;Kim, Kwan-Suk
    • Genomics & Informatics
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    • v.10 no.3
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    • pp.200-205
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    • 2012
  • Although a large number of single nucleotide polymorphisms (SNPs) have been identified from the bovine genome-sequencing project, few of these have been validated at large in Bos indicus breeds. We have genotyped 192 animals, representing 5 cattle populations of Ethiopia, with the Illumina Bovine 8K SNP BeadChip. These include 1 Sanga (Danakil), 3 zebu (Borana, Arsi and Ambo), and 1 zebu ${\times}$ Sanga intermediate (Horro) breeds. The Hanwoo (Bos taurus) was included for comparison purposes. Analysis of 7,045 SNP markers revealed that the mean minor allele frequency (MAF) was 0.23, 0.22, 0.21, 0.21, 0.23, and 0.29 for Ambo, Arsi, Borana, Danakil, Horro, and Hanwoo, respectively. Significant differences of MAF were observed between the indigenous Ethiopian cattle populations and Hanwoo breed (p < 0.001). Across the Ethiopian cattle populations, a common variant MAF (${\geq}0.10$ and ${\leq}0.5$) accounted for an overall estimated 73.79% of the 7,045 SNPs. The Hanwoo displayed a higher proportion of common variant SNPs (90%). Investigation within Ethiopian cattle populations showed that on average, 16.64% of the markers were monomorphic, but in the Hanwoo breed, only 6% of the markers were monomorphic. Across the sampled Ethiopian cattle populations, the mean observed and expected heterozygosities were 0.314 and 0.313, respectively. The level of SNP variation identified in this particular study highlights that these markers can be potentially used for genetic studies in African cattle breeds.

Identification of 1,531 cSNPs from Full-length Enriched cDNA Libraries of the Korean Native Pig Using in Silico Analysis

  • Oh, Youn-Shin;Nguyen, Dinh Truong;Park, Kwang-Ha;Dirisala, Vijaya R.;Choi, Ho-Jun;Park, Chan-Kyu
    • Genomics & Informatics
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    • v.7 no.2
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    • pp.65-84
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    • 2009
  • Sequences from the clones of full-length enriched cDNA libraries serve as valuable resources for functional genomics related studies, genome annotation and SNP discovery. We analyzed 7,392 high-quality chromatograms (Phred value ${\geq}$30) obtained from sequencing the 5' ends of clones derived from full-length enriched cDNA libraries of Korean native pigs including brainstem, liver, cerebellum, neocortex and spleen libraries. In addition, 50,000 EST sequence trace files obtained from GenBank were combined with our sequences to identify cSNPs in silico. The process generated 11,324 contigs, of which 2,895 contigs contained at least one SNP and among them 610 contigs had a minimum of one sequence from Korean native pigs. Of 610 contigs, we randomly selected 262 contigs and performed in silico analysis for the identification of cSNPs. From the results, we identified 1,531 putative coding single nucleotide polymorphisms (cSNPs) and the SNP detection frequency was one SNP per 465 bp. A large-scale sequencing result of clones from full-length enriched cDNA libraries and identified cSNPs will serve as a useful resource to functional genomics related projects such as a pig HapMap project in the near future.

Dual control of the vestibulosympathetic reflex following hypotension in rats

  • Park, Sang Eon;Jin, Yuan-Zhe;Park, Byung Rim
    • The Korean Journal of Physiology and Pharmacology
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    • v.21 no.6
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    • pp.675-686
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    • 2017
  • Orthostatic hypotension (OH) is associated with symptoms including headache, dizziness, and syncope. The incidence of OH increases with age. Attenuation of the vestibulosympathetic reflex (VSR) is also associated with an increased incidence of OH. In order to understand the pathophysiology of OH, we investigated the physiological characteristics of the VSR in the disorder. We applied sodium nitroprusside (SNP) to conscious rats with sinoaortic denervation in order to induce hypotension. Expression of pERK in the intermediolateral cell column (IMC) of the T4~7 thoracic spinal regions, blood epinephrine levels, and blood pressure were evaluated following the administration of glutamate and/or SNP. SNP-induced hypotension led to increased pERK expression in the medial vestibular nucleus (MVN), rostral ventrolateral medullary nucleus (RVLM) and the IMC, as well as increased blood epinephrine levels. We co-administered either a glutamate receptor agonist or a glutamate receptor antagonist to the MVN or the RVLM. The administration of the glutamate receptor agonists, AMPA or NMDA, to the MVN or RVLM led to elevated blood pressure, increased pERK expression in the IMC, and increased blood epinephrine levels. Administration of the glutamate receptor antagonists, CNQX or MK801, to the MVN or RVLM attenuated the increased pERK expression and blood epinephrine levels caused by SNP-induced hypotension. These results suggest that two components of the pathway which maintains blood pressure are involved in the VSR induced by SNP. These are the neurogenic control of blood pressure via the RVLM and the humoral control of blood pressure via epinephrine release from the adrenal medulla.