• Title/Summary/Keyword: single-nucleotide polymorphisms

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Genetic Mapping of a Resistance Locus to Phytophthora sojae in the Korean Soybean Cultivar Daewon

  • Jang, Ik-Hyun;Kang, In Jeong;Kim, Ji-Min;Kang, Sung-Taeg;Jang, Young Eun;Lee, Sungwoo
    • The Plant Pathology Journal
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    • v.36 no.6
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    • pp.591-599
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    • 2020
  • Phytophthora root and stem rot reduce soybean yields worldwide. The use of R-gene type resistance is currently crucial for protecting soybean production. The present study aimed to identify the genomic location of a gene conferring resistance to Phytophthora sojae isolate 2457 in the recombinant inbred line population developed by a cross of Daepung × Daewon. Singlemarker analysis identified 20 single nucleotide polymorphisms associated with resistance to the P. sojae isolate 2457, which explained ~67% of phenotypic variance. Daewon contributed a resistance allele for the locus. This region is a well-known location for Rps1 and Rps7. The present study is the first, however, to identify an Rps gene locus from a major soybean variety cultivated in South Korea. Linkage analysis also identified a 573 kb region on chromosome 3 with high significance (logarithm of odds = 13.7). This genomic region was not further narrowed down due to lack of recombinants within the interval. Based on the latest soybean genome, ten leucine-rich repeat coding genes and four serine/ threonine protein kinase-coding genes are annotated in this region, which all are well-known types of genes for conferring disease resistance in crops. These genes would be candidates for molecular characterization of the resistance in further studies. The identified R-gene locus would be useful in developing P. sojae resistant varieties in the future. The results of the present study provide foundational knowledge for researchers who are interested in soybean-P. sojae interaction.

Highly Polymorphic Bovine Leptin Gene

  • Yoon, D.H.;Cho, B.H.;Park, B.L.;Choi, Y.H.;Cheong, H.S.;Lee, H.K.;Chung, E.R.;Cheong, I.C.;Shin, H.D.
    • Asian-Australasian Journal of Animal Sciences
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    • v.18 no.11
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    • pp.1548-1551
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    • 2005
  • The leptin, an anti-obesity protein, is a hormone protein expressed and secreted mainly from adipocyte tissue, and involved in regulation of body weight, food intake and energy metabolism. In an effort to discover polymorphism(s) in genes whose variant(s) might be implicated in phenotypic traits of growth, we have sequenced exons and their boundaries of leptin gene including 1,000 bp upstream of promoter region with twenty-four unrelated Korean cattle. Fifty-seven sequence variants were identified: fourteen in 5' flanking region, twenty-seven in introns, eight in exons, and eight in 3' flanking region. By pair-wise linkage analysis among polymorphisms, ten sets of SNPs were in absolute linkage disequilibrium (LD) (|D'| = 1 and $r^2$ = 1). Among variants identified, thirty-six SNPs were newly identified, and twenty-one SNPs, which were reported in other breeds, were also confirmed in Korean cattle. The allele frequencies of variants were quite different among breeds. The information from SNPs of bovine leptin gene could be useful for further genetic studies of this gene.

Identification of SNPs Affecting Porcine Carcass Weight with the 60K SNP Chip

  • Kang, Kwon;Seo, Dong-Won;Lee, Jae-Bong;Jung, Eun-Ji;Park, Hee-Bok;Cho, In-Cheol;Lim, Hyun-Tae;Lee, Jun Heon
    • Journal of Animal Science and Technology
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    • v.55 no.4
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    • pp.231-235
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    • 2013
  • Carcass weight (CW) is one of the most important economic traits in pigs, directly affecting the income of farmers. In this study, a genome wide association study was performed to detect significant single nucleotide polymorphisms (SNPs) affecting CW in pigs derived from a $F_2$ intercross between Landrace and Korean native pig (KNP). Using high-density porcine SNP chips, highly significant SNPs were identified on SSC12. Two candidate genes, LOC100523510 and LOC100621652, were subsequently selected within this region and further investigated. Within these candidate genes, five SNPs were identified and genotyped using the VeraCode GoldenGate assay. The results revealed that one SNP in the LOC100621652 gene and four SNPs in the LOC100523510 gene are highly associated with CW. These SNP markers can thus have significant applications for improving CW in KNP. However, the functions of these candidate genes are not fully understood and require further study.

Genetic Factor of Bitter Taste Perception in Humans. (쓴맛 물질에 대한 개인 간 인지능력 차이에 대한 유전학적 연구)

  • Lee, Hye-Jin;Kim, Un-Kyung
    • Journal of Life Science
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    • v.18 no.7
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    • pp.1011-1014
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    • 2008
  • The ability or inability to taste phenylthiocarbamide (PTC) is a classic inherited trait that has been best-studied in human populations. Also, variation in PTC perception has been correlated with dietary preferences and thus may have important consequence for diet-related diseases in modem populations. The recent identification of the TAS2R38 gene (PTC gene) which is a member of TAS2R family of bitter taste receptor genes and three common polymorphisms in the gene is highly correlated with taste sensitivity to PTC. Balancing natural selection has acted to maintain high frequency of both alleles of the gene in human population. Future detailed studies of the relationships between molecular mechanisms and taste function may have therapeutic implications, such as helping patients to consume beneficial bitter-tasting compounds.

Epidemiological and Genome-Wide Association Study of Gastritis or Gastric Ulcer in Korean Populations

  • Oh, Sumin;Oh, Sejong
    • Genomics & Informatics
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    • v.12 no.3
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    • pp.127-133
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    • 2014
  • Gastritis is a major disease that has the potential to grow as gastric cancer. Gastric cancer is a very common cancer, and it is related to a very high mortality rate in Korea. This disease is known to have various reasons, including infection with Helicobacter pylori, dietary habits, tobacco, and alcohol. The incidence rate of gastritis has reported to differ between age, population, and gender. However, unlike other factors, there has been no analysis based on gender. So, we examined the high risk factors of gastritis in each gender in the Korean population by focusing on sex. We performed an analysis of 120 clinical characteristics and genome-wide association studies (GWAS) using 349,184 single-nucleotide polymorphisms from the results of Anseong and Ansan cohort study in the Korea Association Resource (KARE) project. As the result, we could not prove a strong relation with these factors and gastritis or gastric ulcer in the GWAS. However, we confirmed several already-known risk factors and also found some differences of clinical characteristics in each gender using logistic regression. As a result of the logistic regression, a relation with hyperlipidemia, coronary artery disease, myocardial infarction, hyperlipidemia therapy, hypotensive or antihypotensive drug, diastolic blood pressure, and gastritis was seen in males; the results of this study suggest that vascular disease has a potential association with gastritis in males.

Identification of Nicotiana tabacum Cultivars using Molecular Markers

  • Um, Yu-Rry;Cho, Eun-Jeong;Shin, Ha-Jeong;Kim, Ho-Bang;Seok, Yeong-Seon;Kim, Kwan-Suk;Lee, Yi
    • Journal of the Korean Society of Tobacco Science
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    • v.30 no.2
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    • pp.85-93
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    • 2008
  • This report describes a set of seven informative single-nucleotide polymorphisms (SNPs) and one insertion-deletion (INDEL) distributed over 24 cultivars that can be used for tobacco (Nicotiana tabacum L.) cultivar identification. We analyzed 163,000 genomic DNA sequences downloaded from Tobacco Genome Initiative database and assembled 31,370 contigs and 60,000 singletons. Using relatively long contigs, we designed primer sets for PCR amplification. We amplified 61 loci from 24 cultivars and sequenced the PCR products. We found seven significant SNPs and one INDEL among the sequences and we classified the 24 cultivars into 10 groups. SNP frequency of tobacco, 1/8,380 bp, was very low in comparison with those of other plant species, between 1/46 bp and 1/336 bp. For exact identification of tobacco cultivars, many more SNP markers should be developed. This study is the first attempt to identify tobacco cultivars using SNP markers.

A Comparison Study on SVM MDR and D-MDR for Detecting Gene-Gene Interaction in Continuous Data (연속형자료의 유전자 상호작용 규명을 위한 SVM MDR과 D-MDR의 방법 비교)

  • Lee, Jong-Hyeong;Lee, Jea-Young
    • Communications for Statistical Applications and Methods
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    • v.18 no.4
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    • pp.413-422
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    • 2011
  • We have used a multifactor dimensionality reduction(MDR) method to study the major gene interaction effect in general; however, without application of the MDR method in continuous data. In light of this, many methods have been suggested such as Expanded MDR, Dummy MDR and SVM MDR. In this paper, we compare the two methods of SVM MDR and D-MDR. In addition, we identify the gene-gene interaction effect of single nucleotide polymorphisms(SNPs) associated with economic traits in Hanwoo(Korean cattle). Lastly, we discuss a new method in consideration of the advantages that the other methods present.

Investigation of SNPs in FABP3 and FABP4 Genes and Their Possible Relationships with Fatty Acid Composition in Broiler

  • Maharani, Dyah;Park, Hee-Bok;Jung, Yeon-Kook;Jung, Samooel;Jo, Cheo-Run;Lee, Jun-Heon
    • Korean Journal of Poultry Science
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    • v.38 no.3
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    • pp.231-237
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    • 2011
  • There is limited information of the genetic effect for fatty acid composition in chicken meat. This study assessed the association of FABP3 and FABP4 genes affecting fatty acid composition in broilers. Two single nucleotide polymorphisms (SNPs) were detected in FABP3 gene and five SNPs were identified in FABP4 gene. The SNPs located in intron 1 and exon 1 of FABP3 and FABP4, respectively, were used for genotyping using PCR-RFLP method. The SNPg.285C >T in FABP4 showed suggestive association with high arachidonic acid (C20 : 4) in CT genotypes (P = 0.068). However, the SNP g.508C > T in FABP3 showed no significant associations with fatty acid composition. These results are the first report to investigate the SNPs in FABP3 and FABP4 genes and their associations with fatty acid composition, although we only found the possible association of FABP4 SNP with fatty acid composition. These results should provide valuable information for further investigation of the genes affecting fatty acid composition in chicken.

FESD II: A Revised Functional Element SNP Database of Human Ethnicities

  • Kim, Hyun-Ju;Kim, Il-Hyun;Shin, Ki-Hoon;Park, Young-Kyu;Kang, Hyo-Jin;Kim, Young-Joo
    • Genomics & Informatics
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    • v.5 no.4
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    • pp.188-193
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    • 2007
  • The Functional Element SNPs Database (FESD) categorizes functional elements in human genic regions and provides a set of single nucleotide polymorphisms (SNPs) located within each area. Users may select a set of SNPs in specific functional elements with haplotype information and obtain flanking sequences for genotyping. Our previous version of FESD has been improved in several ways. We regenerated all the data in FESD II from recently updated source data such as HapMap, UCSC GoldenPath, dbSNP, OMIM, and $TRANSFAC^{(R)}$. Users can obtain information about tagSNPs and simulate LD blocks for each gene from four ethnicities in the HapMap project on the fly. FESD II employs a Java/JSP web interface for better platform portability and higher speed than PHP in the previous version. As a result, FESD II provides its users with more powerful information about functional element SNPs of human ethnicities.

Association of Sequence Variations in DGAT 1 Gene with Economic Traits in Hanwoo (Korea Cattle)

  • Kong, H.S.;Oh, J.D.;Lee, J.H.;Yoon, D.H.;Choi, Y.H.;Cho, B.W.;Lee, H.K.;Jeon, G.J.
    • Asian-Australasian Journal of Animal Sciences
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    • v.20 no.6
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    • pp.817-820
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    • 2007
  • The effects of diacylglycerol O-acyltransferase (DGAT1) candidate gene polymorphism on the economic traits of Hanwoo were studied. Through sequencing analysis, two polymorphism sites at K232A and T11993C were established and were analyzed by PCR-RFLP. The PCR-RFLP analysis for K232A showed that the frequencies of alleles K and A were 0.75 and 0.25, respectively, and the frequencies of genotypes for K/K, K/A and A/A were estimated as 0.509, 0.491 and 0, respectively. In the PCR-RFLP analysis for T11993C, we found allele frequencies of 0.773 and 0.227 for T and A, respectively, and 0.546, 0.454 and 0 for the T/T, T/C and C/C genotype frequencies, respectively. No significant effects on economic traits in Hanwoo were found in the separate analysis of K232A and T11993C polymorphisms, but the interaction between K232A and T11993C showed a significant effect (p<0.005) on marbling score. The DGAT1 candidate gene was found to have a significant effect not only on milk yield and component traits but also on the metabolism of intramuscular fat.