• Title/Summary/Keyword: single-nucleotide polymorphisms

Search Result 753, Processing Time 0.028 seconds

A new naturalized plant in Korea: Carex molestiformis Reznicek and Rothrock (Cyperaceae) (한반도 신귀화식물: 가는타래사초 (사초과))

  • KO, Seungwon;SHIM, Sang Deog;HYUN, Jong Young;KIM, Joo-Hwan
    • Korean Journal of Plant Taxonomy
    • /
    • v.50 no.3
    • /
    • pp.318-326
    • /
    • 2020
  • We found an unrecorded species, Carex molestiformis Reznicek & Rothrock, in Byeokparyeong, Daehwa-myeon, Pyeongchang-gun, Gangwon-do, South Korea. This species is native to southern parts of the United States (ca. 11 states, including Arkansas, Missouri, and Oklahoma). These plants are usually distributed densely in stream flood plains, bottomlands, stream banks, and along roadsides. Belonging to section Ovales Kunth, perennial herbs with gynecandrous spikes, C. molestiformis is closely related to C. maackii Maxim. and C. scoparia Willd. and is distinguished from them by the number (2-4) of spikes in each inflorescence and the width (2.63.4 mm) and number (69) of veins of perigynia. A new Korean name of C. molestiformis 'Ga-Neun-Ta-Rae-Sa-Cho' was given, as it has slender overall appearance compared with C. maackii (Ta-Rae-Sa-Cho). We also provide a description, illustrations, photographs and a key of related taxa in Korea. We compared three DNA barcode region (chloroplast DNA matK, ndhF and nuclear ribosomal DNA internal transcribed spacer) sequences from C. molestiformis with those of C. maackii and C. scoparia, determining eight species-specific single nucleotide polymorphism sites for C. molestiformis.

Study Gene Interaction Effect Based on Expanded Multifactor Dimensionality Reduction Algorithm (확장된 다중인자 차원축소 (E-MDR) 알고리즘에 기반한 유전자 상호작용 효과 규명)

  • Lee, Jea-Young;Lee, Ho-Guen;Lee, Yong-Won
    • The Korean Journal of Applied Statistics
    • /
    • v.22 no.6
    • /
    • pp.1239-1247
    • /
    • 2009
  • Study the gene about economical characteristic of human disease or domestic animal is a matter of grave interest, preserve and elevation of gene of Korea cattle is key subject. Studies have been done on the gene of Korea cattle using EST based SNP map, but it is based on statistical model, therefore there are difference between real position and statistical position. These problems are solved using both EST_based SNP map and Gene on sequence by Lee et al. (2009b). We have used multifactor dimensionality reduction(MDR) method to study interaction effect of statistical model in general. But MDR method cannot be applied in all cases. It can be applied to the only case-control data. So, method is suggested E-MDR method using CART algorithm. Also we identified interaction effects of single nucleotide polymorphisms(SNPs) responsible for average daily gain(ADG) and marbling score(MS) using E-MDR method.

Practical application of the Bar-HRM technology for utilization with the differentiation of the origin of specific medicinal plant species (약용식물의 기원 판별을 위한 Bar-HRM 분석기술의 응용)

  • Kim, Yun-Hee;Shin, Yong-Wook;Lee, Shin-Woo
    • Journal of Plant Biotechnology
    • /
    • v.45 no.1
    • /
    • pp.9-16
    • /
    • 2018
  • The advent of available DNA barcoding technology has been extensively adopted to assist in the reference to differentiate the origin of various medicinal plants species. However, this technology is still far behind the curve of technological advances to be applied in a practical manner in the market to authenticate the counterfeit components or detect the contamination in the admixtures of medicinal plant species. Recently, a high resolution melting curve analysis technique was combined with the procedure of DNA barcoding (Bar-HRM) to accomplish this purpose. In this review, we tried to summarize the current development and bottleneck of processing related to the Bar-HRM technology for the practical application of medicinal plant species' differentiation in a viable global market. Although several successful results have been reported, there are still many obstacles to be resolved, such as limited number of DNA barcodes and single nucleotide polymorphisms, in particular, only one DNA barcode, internal transcribed sequence (ITS) of ribosomal DNA has been reported in the available nuclear genome. In addition, too few cases have been reported about the identification of counterfeit or contamination with processed medicinal plant products, in particular specifically the case of technology based infusion, jam and jelly products and components in which it is noted that DNA can be thereby degraded during the processing of these products and components.

Mapping, Tissue Distribution and Polymorphism of Porcine Retinol Binding Protein Genes (RBP5 and RBP7)

  • Gong, W.H.;Tang, Z.L.;Han, J.L.;Yang, S.L.;Wang, H.;Li, Y.;Li, K.
    • Asian-Australasian Journal of Animal Sciences
    • /
    • v.21 no.11
    • /
    • pp.1544-1550
    • /
    • 2008
  • The retinoids (vitamin A and its derivatives) play a critical role in vision, growth, reproduction, cell differentiation and embryonic development. Using the IMpRH panel, porcine cellular retinol binding protein genes 5 and 7 (RBP5 and RBP7) were assigned to porcine chromosomes 5 and 6, respectively. The complete coding sequences (CDS) of the RBP5 and RBP7 genes were amplified using the reverse transcriptase polymerase chain reaction (RT-PCR) method, and the deduced amino acid sequences of both genes were compared to human corresponding proteins. The mRNA distributions of the two genes in adult Wuzhishan pig tissues (lung, skeletal muscle, spleen, heart, stomach, large intestine, lymph node, small intestine, liver, brain, kidney and fat) were examined. A total of nine single nucleotide polymorphisms (SNPs) were identified in two genes. Three of these SNPs were analyzed using the polymerase chain reaction-restriction-fragment length polymorphism (PCR-RFLP) method in Laiwu, Wuzhishan, Guizhou, Bama, Tongcheng, Yorkshire and Landrace pig breeds. Association analysis of genotypes of these SNP loci with economic traits was done in our experimental populations. Significant associations of different genotypes of $RBP5-A/G^{63}$, $RBP5-A/G^{517}$ and $RPB5-T/C^{intron1-90}$ loci with traits including maximum carcass length (LM), minimum carcass length (LN), marbling score (MS), back fat thickness at shoulder (SBF), meat color score (MCS) and hematocrit (HCT) were detected. These SNPs may be useful as genetic markers in genetic improvement for porcine production.

Multiple Genes Related to Muscle Identified through a Joint Analysis of a Two-stage Genome-wide Association Study for Racing Performance of 1,156 Thoroughbreds

  • Shin, Dong-Hyun;Lee, Jin Woo;Park, Jong-Eun;Choi, Ik-Young;Oh, Hee-Seok;Kim, Hyeon Jeong;Kim, Heebal
    • Asian-Australasian Journal of Animal Sciences
    • /
    • v.28 no.6
    • /
    • pp.771-781
    • /
    • 2015
  • Thoroughbred, a relatively recent horse breed, is best known for its use in horse racing. Although myostatin (MSTN) variants have been reported to be highly associated with horse racing performance, the trait is more likely to be polygenic in nature. The purpose of this study was to identify genetic variants strongly associated with racing performance by using estimated breeding value (EBV) for race time as a phenotype. We conducted a two-stage genome-wide association study to search for genetic variants associated with the EBV. In the first stage of genome-wide association study, a relatively large number of markers (~54,000 single-nucleotide polymorphisms, SNPs) were evaluated in a small number of samples (240 horses). In the second stage, a relatively small number of markers identified to have large effects (170 SNPs) were evaluated in a much larger number of samples (1,156 horses). We also validated the SNPs related to MSTN known to have large effects on racing performance and found significant associations in the stage two analysis, but not in stage one. We identified 28 significant SNPs related to 17 genes. Among these, six genes have a function related to myogenesis and five genes are involved in muscle maintenance. To our knowledge, these genes are newly reported for the genetic association with racing performance of Thoroughbreds. It complements a recent horse genome-wide association studies of racing performance that identified other SNPs and genes as the most significant variants. These results will help to expand our knowledge of the polygenic nature of racing performance in Thoroughbreds.

Genome-wide association study reveals genetic loci and candidate genes for average daily gain in Duroc pigs

  • Quan, Jianping;Ding, Rongrong;Wang, Xingwang;Yang, Ming;Yang, Yang;Zheng, Enqin;Gu, Ting;Cai, Gengyuan;Wu, Zhenfang;Liu, Dewu;Yang, Jie
    • Asian-Australasian Journal of Animal Sciences
    • /
    • v.31 no.4
    • /
    • pp.480-488
    • /
    • 2018
  • Objective: Average daily gain (ADG) is an important target trait of pig breeding programs. We aimed to identify single nucleotide polymorphisms (SNPs) and genomic regions that are associated with ADG in the Duroc pig population. Methods: We performed a genome-wide association study involving 390 Duroc boars and by using the PorcineSNP60K Beadchip and two linear models. Results: After quality control, we detected 3,5971 SNPs, which included seven SNPs that are significantly associated with the ADG of pigs. We identified six quantitative trait loci (QTL) regions for ADG. These QTLs included four previously reported QTLs on Sus scrofa chromosome (SSC) 1, SSC5, SSC9, and SSC13, as well as two novel QTLs on SSC6 and SSC16. In addition, we selected six candidate genes (general transcription factor 3C polypeptide 5, high mobility group AT-hook 2, nicotinamide phosphoribosyltransferase, oligodendrocyte transcription factor 1, pleckstrin homology and RhoGEF domain containing G4B, and ENSSSCG00000031548) associated with ADG on the basis of their physiological roles and positional information. These candidate genes are involved in skeletal muscle cell differentiation, diet-induced obesity, and nervous system development. Conclusion: This study contributes to the identification of the casual mutation that underlies QTLs associated with ADG and to future pig breeding programs based on marker-assisted selection. Further studies are needed to elucidate the role of the identified candidate genes in the physiological processes involved in ADG regulation.

Genetic characterisation of PPARG, CEBPA and RXRA, and their influence on meat quality traits in cattle

  • Goszczynski, Daniel Estanislao;Mazzucco, Juliana Papaleo;Ripoli, Maria Veronica;Villarreal, Edgardo Leopoldo;Rogberg-Munoz, Andres;Mezzadra, Carlos Alberto;Melucci, Lilia Magdalena;Giovambattista, Guillermo
    • Journal of Animal Science and Technology
    • /
    • v.58 no.4
    • /
    • pp.14.1-14.9
    • /
    • 2016
  • Background: Peroxisome proliferator-activated receptor gamma (PPARG), CCAAT/enhancer binding protein alpha (CEBPA) and retinoid X receptor alpha (RXRA) are nuclear transcription factors that play important roles in regulation of adipogenesis and fat deposition. The objectives of this study were to characterise the variability of these three candidate genes in a mixed sample panel composed of several cattle breeds with different meat quality, validate single nucleotide polymorphisms (SNPs) in a local crossbred population (Angus - Hereford - Limousin) and evaluate their effects on meat quality traits (backfat thickness, intramuscular fat content and fatty acid composition), supporting the association tests with bioinformatic predictive studies. Results: Globally, nine SNPs were detected in the PPARG and CEBPA genes within our mixed panel, including a novel SNP in the latter. Three of these nine, along with seven other SNPs selected from the Single Nucleotide Polymorphism database (SNPdb), including SNPs in the RXRA gene, were validated in the crossbred population (N = 260). After validation, five of these SNPs were evaluated for genotype effects on fatty acid content and composition. Significant effects were observed on backfat thickness and different fatty acid contents (P < 0.05). Some of these SNPs caused slight differences in mRNA structure stability and/or putative binding sites for proteins. Conclusions: PPARG and CEBPA showed low to moderate variability in our sample panel. Variations in these genes, along with RXRA, may explain part of the genetic variation in fat content and composition. Our results may contribute to knowledge about genetic variation in meat quality traits in cattle and should be evaluated in larger independent populations.

Analysis of SNPs in Bovine CSRP3, APOBEC2 and Caveolin Gene Family (소의 CSRP3, APOBEC2, Caveolin 유전자들의 단일염기다형 분석)

  • Bhuiyan, M.S.A.;Yu, S.L.;Kim, K.S.;Yoon, D.;Park, E.W.;Jeon, J.T.;Lee, J.H.
    • Journal of Animal Science and Technology
    • /
    • v.49 no.6
    • /
    • pp.719-728
    • /
    • 2007
  • The cysteine and glycine rich protein 3 (CSRP3), apolipoprotein B mRNA editing enzyme catalytic polypeptide‐like 2(APOBEC2) and caveolin (CAV) gene family(CAV1, CAV2, CAV3) have been reported to play important roles for carcass and meat quality traits in pig, mouse, human and cattle. As an initial step, we investigated SNPs in these 5 genes among eight different cattle breeds. Eighteen primer pairs were designed from bovine sequence data of NCBI database to amplify the partial gene fragments. Sequencing results revealed 9 SNPs in the coding regions of three caveolin genes, 1 SNP in CSRP3 and 3 SNPs in APOBEC2 gene. All the identified SNPs were confirmed by PCR-RFLP. Also, 9 more intronic SNPs were detected in these genes. However, all identified mutations in the coding region do not change amino acid sequence. Allelic distributions were significantly different for 5 SNPs in CAV2, CAV3, CSRP3 and APOBEC2 genes among the eight different breeds. These results gave some clues about the polymorphisms of these genes among the cattle breeds and will be useful for further searches for identifying association between these SNPs and meat quality traits in cattle.

Genetic Polymorph isms and Haplotype Analysis of Sweet Taste Receptor TAS1R2 Gene in the Korean Population (한국인의 단맛수용체유전자 TAS1R2 다형성분석 및 일배체형 연구)

  • Lee, Hye-Jin;Bae, Jae-Woong;Kwon, Tae-Jun;SaGong, Bo-Rum;Kim, Un-Kyung
    • Journal of Life Science
    • /
    • v.20 no.3
    • /
    • pp.462-465
    • /
    • 2010
  • Sweetness plays an important role in providing calories and promoting appetite for food. Since it has been known that genetic factor(s) is involved in individual differences in taste sensitivity in humans, this study aimed to examine genetic variations of the TAS1R2 gene, one of the components for tasting sweet compounds, by using DNA sequencing analysis from 98 unrelated Korean subjects. As a result, 12 different single nucleotide polymorphisms (SNPs) were identified in the hTAS1R2 gene and most of them were nonsynonymous. Also, two novel SNPs were found for the first time in this study. It was noted that the frequencies of these SNPs were common in the Korean population. 20 different haplotypes with coding SNPs (cSNPs) were also found in this study. Three out of these haplotypes were common, showing frequencies of > 10%. The repertoire and frequencies of cSNPs and haplotypes in the hTAS1R2 gene will provide information that will help identify a functional ligand receptor common in the Korean population.

LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls

  • Park, Sung Won;Lee, Seung-Tae;Sohn, Young Bae;Cho, Sung Yoon;Kim, Se-Hwa;Kim, Su Jin;Kim, Chi Hwa;Ko, Ah-Ra;Paik, Kyung-Hoon;Kim, Jong-Won;Jin, Dong-Kyu
    • Clinical and Experimental Pediatrics
    • /
    • v.55 no.10
    • /
    • pp.388-392
    • /
    • 2012
  • Purpose: Single-nucleotide polymorphism (SNP) markers within LIN28B have been reported to be related to the timing of pubertal growth. However, no study has investigated the frequency of genetic markers in girls with precocious puberty (PP) or early puberty (EP). This study aimed to determine the frequency of putative genetic markers in girls with PP or EP. Methods: Genomic DNAs were obtained from 77 and 109 girls that fulfilled the criteria for PP and EP, respectively. The controls in this study were 144 healthy volunteers between 20 and 30 years of age. The haplotypes were reconstructed using 11 SNPs of LIN28B, and haplotype association analysis was performed. The haplotype frequencies were compared. Differences in the clinical and laboratory parameters were analyzed according to the haplotype dosage. Results: Eleven SNPs in LIN28B were all located in a block that was in linkage disequilibrium. The haplotype could be reconstructed using 2 representative SNPs, rs4946651 and rs369065. The AC haplotype was less frequently observed in the PP group than in the controls (0.069 vs. 0.144, P=0.010). The trend that girls with non-AC haplotypes tended to have earlier puberty onset (P=0.037) was illustrated even in the EP+PP patient group by Kaplan-Meier analysis. Conclusion: The results of the present study showed that non-AC haplotypes of LIN28B had a significant association with PP in girls.