• 제목/요약/키워드: SNP Identification

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Identification of SNPs Related to 19 Phenotypic Traits Using Genome-wide Association Study (GWAS) Approach in Korean Wheat Mini-core Collection

  • Yuna Kang;Yeonjun Sung;Seonghyeon Kim;Changsoo Kim
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2020년도 춘계학술대회
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    • pp.120-120
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    • 2020
  • Based on the simple sequence repeat (SSR) marker, a Korean wheat core collection were established with 616 wheat accessions. Among them, the SNP genotyping for the entire genome was performed using DNA chip array to clarify the whole genome SNP profiles. Consequently, a total of 35,143 SNPs were found and we re-established a mini-core collection with 247 accessions. Population diversity and phylogenetic analysis revealed genetic diversity and relationships from the mini core set. In addition, genome-wide association study (GWAS) was performed on 19 phenotypic traits; ear type, awn length, culm length, ear length, awn color, seed coat color, culm color, ear color, loading, leaf length, leaf width, seeding stand, cold damage, weight, auricle, plant type, heading stage, maturation period, upright habit, and degree of flag leaf. The GWAS was performed using the fixed and random model circulating probability unification (FarmCPU), which identified 14 to 258 SNP loci related to 19 phenotypic traits. Our study indicates that this Korean wheat mini-core collection is a set of germplasm useful for basic and applied research with the aim of understanding and exploiting the genetic diversity of Korean wheat varieties.

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GWAS 분석을 이용한 벼 지엽각 관련 SNP 동정 및 발현 분석 (Gene expression and SNP identification related to leaf angle traits using a genome-wide association study in rice (Oryza sativa L.))

  • 김미선;유의수;강권규;조용구
    • Journal of Plant Biotechnology
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    • 제45권1호
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    • pp.17-29
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    • 2018
  • 본 연구에서는 국내외에서 수집한 벼 294개 유전자원 핵심집단을 대상으로 벼의 지엽각 특성에 대한 조사를 수행하였고, GWAS를 이용하여 지엽각 연관 유전자를 추출 및 분석하였다. 표현형 데이터를 이용한 GWAS의 Manhattan plot 결과 분석을 통해, 각 집단에서 염색체를 대상으로 표현형과 통계적 유의성을 나타내 연관성을 보이는 SNP를 발굴하였다. 지엽각 관련 특성에 대하여 선행 연구된 QTL region과의 비교를 통하여 본 연구에서 발굴된 SNP간의 유의성을 조사한 결과, 지엽각과 유의성이 있는 SNP (S8-19815442)가 이미 확인된 QTL region에 위치하는 것으로 나타났으며, 후보유전자 Os08g31950 대해 연관 유전자 변이를 관찰하기 위해서 형질 특이적 품종군 간의 염기서열을 비교한 결과 1개의 지역에서 단일염기변이가 검출되었다. Os08g31950의 조직별 RNA의 상대적 발현량 수준을 비교한 결과, Os08g31950 유전자는 모든 조직에서 높은 발현량을 확인할 수 있었으며 조직별로 다양한 발현 양상을 관찰할 수 있었다. 또한, 모두 직립형 품종군에서 상대적으로 발현량이 높게 나타났으며 뿌리보다 잎에서의 발현율이 높게 나타났다. 본 연구를 통해 동정된 지엽각 연관 후보유전자 Os08g31950는 벼 생육 및 수량 증대에 이용할 수 있는 마커제작 및 육종의 기초자료가 될 것으로 기대된다.

Rapid Origin Determination of the Northern Mauxia Shrimp (Acetes chinensis) Based on Allele Specific Polymerase Chain Reaction of Partial Mitochondrial 16S rRNA Gene

  • Kang, Jung-Ha;Noh, Eun-Soo;Park, Jung-Youn;An, Chel-Min;Choi, Jung-Hwa;Kim, Jin-Koo
    • Asian-Australasian Journal of Animal Sciences
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    • 제28권4호
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    • pp.568-572
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    • 2015
  • Acetes chinensis is an economically important shrimp that belongs to the Sergestidae family; following fermentation, A. chinensis' economic value, however, is low in China, and much of the catch in China is exported to Korea at a low price, thus leading to potential false labeling. For this reason, we developed a simple method to identify A. chinensis' origin using allele-specific polymerase chain reaction (PCR). Ten single nucleotide polymorphisms (SNPs) were identified from partial (i.e., 570 bp) DNA sequence analysis of the mitochondrial 16s rRNA gene in 96 Korean and 96 Chinese individual shrimp. Among 10 SNP sites, four sites were observed in populations from both countries, and two sites located in the middle with SNP sites at their 3'-ends were used to design allele-specific primers. Among the eight internal primers, the C220F primer specific to the Chinese A. chinensis population amplified a DNA fragment of 364 bp only from that population. We were able to identify the A. chinensis population origin with 100% accuracy using multiplex PCR performed with two external primers and C220F primers. These results show that the 16S rRNA gene that is generally used for the identification of species can be used for the identification of the origin within species of A. chinensis, which is an important finding for the fair trade of the species between Korea and China.

Identification of a Novel SNP Associated with Meat Quality in C/EBP${\alpha}$ Gene of Korean Cattle

  • Shin, S.C.;Kang, M.J.;Chung, E.R.
    • Asian-Australasian Journal of Animal Sciences
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    • 제20권4호
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    • pp.466-470
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    • 2007
  • CCAAT/enhancer binding protein ${\alpha}$($C/EBP{\alpha}$) plays an important role in lipid deposition and adipocyte differentiation. In order to find genetic markers to improve the meat quality of Korean cattle, the bovine $C/EBP{\alpha}$ gene was chosen as a candidate gene to investigate its association with carcass and meat quality traits in Korean cattle. A single nucleotide polymorphism (SNP) was identified at position 271 (A/C substitution) of coding region in the $C/EBP{\alpha}$ gene. A PCR-RFLP procedure with restriction enzyme SmaI was developed for determining the marker genotypes. The frequencies of alleles C and A and were 0.374 and 0.626, respectively. The genotype frequencies for CC, AC and AA were 12.9, 49.0 and 38.1%, respectively, in Korean cattle population. The frequencies of genotype were in agreement with Hardy-Weinberg equilibrium. Association analysis indicated that the gene-specific SNP marker of $C/EBP{\alpha}$ showed a significant association with marbling score (p<0.05). The animals with AA genotype had higher marbling score than those with the AC or CC genotype. Although further studies are needed to validate our results, the $C/EBP{\alpha}$ gene could be useful as a genetic marker for carcass and meat quality traits in Korean cattle.

Identification of Stearoyl-CoA Desaturase (SCD) Gene Interactions in Korean Native Cattle Based on the Multifactor-dimensionality Reduction Method

  • Oh, Dong-Yep;Jin, Me-Hyun;Lee, Yoon-Seok;Ha, Jae-Jung;Kim, Byung-Ki;Yeo, Jung-Sou;Lee, Jea-Young
    • Asian-Australasian Journal of Animal Sciences
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    • 제26권9호
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    • pp.1218-1228
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    • 2013
  • Fat quality is determined by the composition of fatty acids. Genetic relationships between this composition and single nucleotide polymorphisms (SNPs) in the stearoyl-CoA desaturase1 (SCD1) gene were examined using 513 Korean native cattle. Single and epistatic effects of 7 SNP genetic variations were investigated, and the multifactor dimensionality reduction (MDR) method was used to investigate gene interactions in terms of oleic acid (C18:1), mono-unsaturated fatty acids (MUFAs) and marbling score (MS). The g.6850+77 A>G and g.14047 C>T SNP interactions were identified as the statistically optimal combination (C18:1, MUFAs and MS permutation p-values were 0.000, 0.000 and 0.001 respectively) of two-way gene interactions. The interaction effects of g.6850+77 A>G, g.10213 T>C and g.14047 C>T reflected the highest training-balanced accuracy (63.76%, 64.70% and 61.85% respectively) and was better than the individual effects for C18:1, MUFAs and MS. In addition, the superior genotype groups were AATTCC, AGTTCC, GGTCCC, AGTCCT, GGCCCT and AGCCTT. These results suggest that the selected SNP combination of the SCD1 gene and superior genotype groups can provide useful inferences for the improvement of the fatty acid composition in Korean native cattle.

한우의 ACADS 유전자내의 SNP 탐색 및 경제형질과의 연관성 분석 (Identification of single nucleotide polymorphisms in the ACADS gene and their relationships with economic traits in Hanwoo)

  • 오재돈;정일정;손영곤;공홍식
    • 농업과학연구
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    • 제39권2호
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    • pp.219-226
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    • 2012
  • The acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS) gene is known to be related with fat metabolism, especially coverts the fat to the energy sources in cattle. In human, the mutations in this gene cause SCAD deficiency, which is one of the fatty acid metabolism disorders. The ACADS gene is located on bovine chromosome 17. The objective of this study was to identify SNPs in Hanwoo ACADS gene and identify the relationships with economic traits. In this study, two SNPs, T1570G SNP in exon 2 and G13917A SNP in exon 4, were observed. Moreover, in the coding region, 2 missense mutations, T (Cys) ${\rightarrow}$ G (Trp) mutation at 1570 bp and G (Arg) ${\rightarrow}$ A (Gln) mutation at 13917 bp, were observed. These mutations were subjected to the PCR-RFLP for typing 198 Hanwoo animals. The observed genotype frequency for T1570G was 0.135 (TT), 0.860 (TG) and 0.005 (GG), respectively. Also, 0.900 (GG) and 0.100 (GA) were observed for the G13917A mutation. The association of these SNPs with four economic traits, CW (Carcass Weight), BF (Backfat Thickness), LMA (Longissimus Muscle Area), MS (Marbling Score), were also observed. The results indicated that no significant results were observed in all four traits (P>0.05). This might indicate that further studies are ultimately needed to use the SNPs in ACADS gene in lager populations for effectively used for the marker assisted selection.

Analysis of the relationship between the end weight trait and the gene ADGRL2 in purebred landrace pigs using a Genome-wide association study

  • Kang, Ho-Chan;Kim, Hee-Sung;Lee, Jae-Bong;Yoo, Chae-Kung;Choi, Tae-Jeong;Lim, Hyun-Tae
    • 농업과학연구
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    • 제45권2호
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    • pp.238-247
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    • 2018
  • The overall consumption of meat is increasing as the level of national income increases. The end weight is a trait closely associated with dressed meat. Genome-wide association study (GWAS) is an effective method of analyzing genetic variation and gene identification associated with a number of natural alternative traits because it can detect variations. So this paper did a GWAS analysis to identity the location on the genome related to the end weight in purebred landrace pigs and to explore the relevant candidate gene. This study identified a significant single nucleotide poly morphism (SNP) marker in chromosome 6 (ASGA0029422, $p=1.22{\times}10^{-6}$). Adhesion G protein-coupled receptor L2 (ADGRL2) was found to be the candidate gene at the identified SNP marker location. ADGRL2 genes have been found to be associated with cell development in relation to the external and internal environment of a cell. In addition, genotype and statistical analyses were done on nine variations on the exon of ADGRL2. The results show that the SNP marker (ASGA0029422, $p=1.32{\times}10^{-6}$) was significant, but the significance of the nine variations on the ADGRL2 exon was not verified. However, by performing further experiments and functional studies on other SNPs showing possible genetic ADGRL-Exon mutations, objects with high associations of high-end weights can be selected.

한우 2번 염색체 양적형질좌위 영역에서 육질 연관 후보 DNA 마커 규명에 관한 연구 (Study on identification of candidate DNA marker related with beef quailty in QTL region of BTA 2 in Hanwoo population)

  • 이윤석;오동엽;여정수
    • Journal of the Korean Data and Information Science Society
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    • 제22권4호
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    • pp.661-669
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    • 2011
  • 한우산업은 유전적으로 우수한 개체를 선발하기 위하여 전통적인 육종방법에 유전체정보를 활용하여 정확하게 예측하는 기술을 개발하고 있는 실정이다. 따라서 본 연구에서는 이미 규명되어진 한우 2번 염색체 양적형질좌위을 바탕으로 발현염기서열표식 (EST) 단일염기 다형성 연관지도상에서 선발된 12개의 염기표식영역 표지인자내 단일염기다형성들과 한우집단의 육질과의 연관성을 평가하였다. 한우 2번 염색체 양적형질좌위영역에 있는 12개의 염기표식영역 표지인자를 이용하여 30차에서 33차 후대검정우 집단에서 가계정보가 서로 다른 20두에서 직접 염기서열분석을 한 결과 10개의 다형성이 있는 단일염기다형성를 확인할 수 있었다. 이 중에서 근내지방도 정규분포상 양쪽 집단과 단일염기다형성 유전자형간 빈도분석을 한 결과 HWSNP_1-1과 HWSNP_9-4 단일염기다형성에서 40%이상의 빈도차이를 나타내었다. 이 2개의 단일염기다형성들로 한우집단 (n=233)에서 근내 지방도와의 연관성을 살펴본 결과 HWSNP_1-1 단일염기다형성에서만 유의적인 차이를 나타내었다 (P<0.05). 따라서 본 연구에서는 HWSNP_1-1 단일염기다형성는 유전체정보를 활용한 한우 육질 개량에 있어 가장 효율적인 보조수단으로 활용가치가 높을 것이라 판단된다.

Molecular differentiation of Russian wild ginseng using mitochondrial nad7 intron 3 region

  • Li, Guisheng;Cui, Yan;Wang, Hongtao;Kwon, Woo-Saeng;Yang, Deok-Chun
    • Journal of Ginseng Research
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    • 제41권3호
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    • pp.326-329
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    • 2017
  • Background: Cultivated ginseng is often introduced as a substitute and adulterant of Russian wild ginseng due to its lower cost or misidentification caused by similarity in appearance with wild ginseng. The aim of this study is to develop a simple and reliable method to differentiate Russian wild ginseng from cultivated ginseng. Methods: The mitochondrial NADH dehydrogenase subunit 7 (nad7) intron 3 regions of Russian wild ginseng and Chinese cultivated ginseng were analyzed. Based on the multiple sequence alignment result, a specific primer for Russian wild ginseng was designed by introducing additional mismatch and allele-specific polymerase chain reaction (PCR) was performed for identification of wild ginseng. Real-time allele-specific PCR with endpoint analysis was used for validation of the developed Russian wild ginseng single nucleotide polymorphism (SNP) marker. Results: An SNP site specific to Russian wild ginseng was exploited by multiple alignments of mitochondrial nad7 intron 3 regions of different ginseng samples. With the SNP-based specific primer, Russian wild ginseng was successfully discriminated from Chinese and Korean cultivated ginseng samples by allele-specific PCR. The reliability and specificity of the SNP marker was validated by checking 20 individuals of Russian wild ginseng samples with real-time allele-specific PCR assay. Conclusion: An effective DNA method for molecular discrimination of Russian wild ginseng from Chinese and Korean cultivated ginseng was developed. The established real-time allele-specific PCR was simple and reliable, and the present method should be a crucial complement of chemical analysis for authentication of Russian wild ginseng.

엉겅퀴의 엽록체 TrnL-F와 Matk 영역 염기서열의 HRM 분석을 통한 특이적 SNP 분자마커의 개발 (Development of Specific SNP Molecular Marker from Thistle in the DNA Sequences of Chloroplast TrnL-F and Matk Region Using HRM Analysis)

  • 이신우;이수진;김윤희
    • 생명과학회지
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    • 제29권5호
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    • pp.524-529
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    • 2019
  • 엉겅퀴는 대표적인 다년생의 약용식물이다. 최근 국제적 추세에 따라 자국의 유전자원의 발굴, 보존 등이 강화 됨에 따라 인접국가와 국내 자생 엉겅퀴 계통을 판별 할 수 있는 기준 설정에 관한 연구의 필요성이 대두되고 있지만, 분자생물학적 판별 기술의 개발은 아직 미흡한 실정이다. 본 연구에서는 국내 토종과 해외 유래 엉겅퀴종의 기원을 판별하기 위해 엽록체에 존재하는 trnL-trnF와 MatK 유전자단편에서 SNP를 이용한 판별 프라이머를 확보하였으며 이를 보완하여 보다 신속하게 판별하기 위하여 HRM 분석 기술을 이용한 판별 마커와 그 조건을 확립하였다. 그러므로, 본 연구에서 개발된 SNP 마커는 다양한 지역 또는 국가에서 서식하는 엉겅퀴 종들의 신속한 확인을 위해 매우 유용하게 이용될 것으로 생각된다.