• 제목/요약/키워드: SNP

검색결과 1,352건 처리시간 0.033초

한우 부분육 선호부위에 대한 ssGBLUP을 활용한 GWAS 분석 (A Genome-wide Association Study of Preferred Primal Cuts of Hanwoo Cattle Using Single-step GBLUP)

  • 이재구;박병호;박미나;;김시동;도창희;최태정
    • 농업생명과학연구
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    • 제50권3호
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    • pp.99-117
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    • 2016
  • ssGBLUP을 이용한 전장 유전체 연관분석(ssGWAS)을 수행하기 위하여 이용한 표현형 자료는 2010년도부터 2015년까지 농협중앙회 한우개량사업소에서 후대 검정한 한우 거세우 총 1,829두의 부분육수율자료를 이용하였다. 유전체 자료는 Illumina Bovine 50K Beadchip을 활용하였으며 표현형 자료와 매칭이 되는 개체는 674두였다. 먼저 안심, 등심, 채끝 및 갈비수율의 유전체 육종가(GEBV)를 구하고 이를 통해 SNP 표지인자에 대한 효과와 SNP 표지인자의 분산을 계산하여 형질별 전체 유전분산 대비 SNP 표지인자의 효과를 추정한 후, QTL일 가능성이 있는 효과가 높은 SNP 좌위에 대한 결과를 주요하게 조사하였다. 안심수율의 경우, 상위 20개의 전체 유전분산 대비 SNP 표지인자의 효과에서 10번 염색체에서의 효과가 가장 높았는데 12,812,193 ~ 12,922,313bp 영역에서 전체 유전분산 대비 7.32 ~ 7.34%의 효과를 나타냈다. 채끝수율은 전체 유전분산에 대한 설명력이 가장 높은 SNP 표지인자를 포함하는 염색체는 24번 염색체로 38,158,543 ~ 38,347,278bp 영역이 약 8.36 ~ 8.56%의 전체 유전분산 대비 효과를 나타내었다. 등심수율은 다른 부분육 조사형질보다 낮은 SNP 표지인자의 효과를 나타내었다. 따라서 등심의 경우 보통 크기의 효과와 작은 효과를 갖는 많은 유전자들에 의해서 형질이 발현되는 것으로 사료된다.

Modulation of Apoptosis and Differentiation by the Treatment of Sulfasalazine in Rabbit Articular Chondrocytes

  • Lee, Won Kil;Kang, Jin Seok
    • Toxicological Research
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    • 제32권2호
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    • pp.115-121
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    • 2016
  • This study was conducted to examine the cellular regulatory mechanisms of sulfasalazine (SSZ) in rabbit articular chondrocytes treated with sodium nitroprusside (SNP). Cell phenotype was determined, and the MTT assay, Western blot analysis and immunofluorescence staining of type II collagen was performed in control, SNP-treated and SNP plus SSZ ($50{\sim}200{\mu}g/mL$) rabbit articular chondrocytes. Cellular proliferation was decreased significantly in the SNP-treated group compared with that in the control (p < 0.01). SSZ treatment clearly increased the SNP-reduced proliferation levels in a concentration-dependent manner (p < 0.01). SNP treatment induced significant dedifferentiation and inflammation compared with control chondrocytes (p < 0.01). Type II collagen expression levels increased in a concentration-dependent manner in response to SSZ treatment but were unaltered in SNP-treated chondrocytes (p < 0.05 and < 0.01, respectively). Cylooxygenase-2 (COX-2) expression increased in a concentration-dependent manner in response to SSZ treatment but was unaltered in SNP-treated chondrocytes (p < 0.05). Immunofluorescence staining showed that SSZ treatment increased type II collagen expression compared with that in SNP-treated chondrocytes. Furthermore, phosphorylated extracellular regulated kinase (pERK) expression levels were decreased significantly in the SNP-treated group compared with those in control chondrocytes (p < 0.01). Expression levels of pERK increased in a concentration-dependent manner by SSZ but were unaltered in SNP-treated chondrocytes. pp38 kinase expression levels increased in a concentration-dependent manner by SSZ but were unaltered in control chondrocytes (p < 0.01). In summary, SSZ significantly inhibited nitric oxide-induced cell death and dedifferentiation, and regulated extracellular regulated kinases 1 and 2 and p38 kinase in rabbit articular chondrocytes.

p38 Kinase Regulates Nitric Oxide-induced Dedifferentiation and Cyclooxygenase-2 Expression of Articular Chondrocytes

  • Yu, Seon-Mi;Cheong, Seon-Woo;Cho, Sam-Rae;Kim, Song-Ja
    • IMMUNE NETWORK
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    • 제6권3호
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    • pp.117-122
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    • 2006
  • Background: Caveolin, a family of integral membrane proteins are a principal component of caveolae membranes. In this study, we investigated the effect of p38 kinase on differentiation and on inflammatory responses in sodium nitroprusside (SNP)-treated chondrocytes. Methods: Rabbit articular chondrocytes were prepared from cartilage slices of 2-week-old New Zealand white rabbits by enzymatic digestion. SNP was used as a nitric oxide (NO) donor. In this experiments measuring SNP dose response, primary chondrocytes were treated with various concentrations of SNP for 24h. The time course of the SNP response was determined by incubating cells with 1mM SNP for the indicated time period $(0{\sim}24h)$. The cyclooxygenase-2 (COX-2) and type II collagen expression levels were determined by immunoblot analysis, and prostaglandin $E_2\;(PGE_2)$ assay was used to measure the COX-2 activity. The tyrosine phosphorylation of caveolin-1 was determined by immunoblot analysis and immunostaining. Results: SNP treatment stimulated tyrosine phosphorylation of caveolin-1 and activation of p38 kinase. SNP additionally caused dedifferentiation and inflammatory response. We showed previously that SNP treatment stimulated activation of p38 kinase and ERK-1/-2. Inhibition of p38 kinase with SB203580 reduced caveolin-1 tyrosine phosphorylation and COX-2 expression but enhanced dedifferentiation, whereas inhibition of ERK with PD98059 did not affect caveolin-1 tyrosine phosphorylation levels, suggesting that ERK at least is not related to dedifferentiation and COX-2 expression through caveolin-1 tyrosine phosphorylation. Conclusion: Our results indicate that SNP in articular chondrocytes stimulates dedifferentiation and inflammatory response via p38 kinase signaling in association with caveolin-1 phosphorylation.

Effect of Combining Multiple CNV Defining Algorithms on the Reliability of CNV Calls from SNP Genotyping Data

  • Kim, Soon-Young;Kim, Ji-Hong;Chung, Yeun-Jun
    • Genomics & Informatics
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    • 제10권3호
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    • pp.194-199
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    • 2012
  • In addition to single-nucleotide polymorphisms (SNP), copy number variation (CNV) is a major component of human genetic diversity. Among many whole-genome analysis platforms, SNP arrays have been commonly used for genomewide CNV discovery. Recently, a number of CNV defining algorithms from SNP genotyping data have been developed; however, due to the fundamental limitation of SNP genotyping data for the measurement of signal intensity, there are still concerns regarding the possibility of false discovery or low sensitivity for detecting CNVs. In this study, we aimed to verify the effect of combining multiple CNV calling algorithms and set up the most reliable pipeline for CNV calling with Affymetrix Genomewide SNP 5.0 data. For this purpose, we selected the 3 most commonly used algorithms for CNV segmentation from SNP genotyping data, PennCNV, QuantiSNP; and BirdSuite. After defining the CNV loci using the 3 different algorithms, we assessed how many of them overlapped with each other, and we also validated the CNVs by genomic quantitative PCR. Through this analysis, we proposed that for reliable CNV-based genomewide association study using SNP array data, CNV calls must be performed with at least 3 different algorithms and that the CNVs consistently called from more than 2 algorithms must be used for association analysis, because they are more reliable than the CNVs called from a single algorithm. Our result will be helpful to set up the CNV analysis protocols for Affymetrix Genomewide SNP 5.0 genotyping data.

SNP : 시스템 온 칩을 위한 새로운 통신 프로토콜 (SNP: A New On-Chip Communication Protocol for SoC)

  • 이재성;이혁재;이찬호
    • 한국정보과학회논문지:시스템및이론
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    • 제32권9호
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    • pp.465-474
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    • 2005
  • 고집적 SoC 설계시에 버스방식의 온칩 통신은 대역폭이 제한되는 문제점이 있고 NoC (Network-on-Chip) 방식에서는 구현의 복잡도가 증가하는 문제점이 있다. 본 논문에서는 이러한 문제점을 극복하는 새로운 온칩 통신 규격인 SNP(Soc Network Protocol)를 소개한다. SNP는 기존 버스의 신호선들을 세 가지 그룹인 제어(control), 주소(address), 데이타(data)로 나눈 뒤 하나의 채널을 통해 전송함으로써 신호선의 수를 줄인다. SNP 채널은 대칭구조로 사용되기 때문에 마스터-슬레이브 통신 방식뿐만 아니라 마스터-마스터 통신도 효율적으로 지원한다. 하나의 전송에 필요한 신호 그룹의 진행 규칙을 SNP 규격으로 정의하고, 동일한 정보가 반복적으로 전달되는 것을 방지하는 페이즈 복원 기능을 제안하여 통신대역을 효율적으로 사용할 수 있도록 한다. 산업계 표준 규격인 AMBA AHB와 비교한 결과 멀티미디어 타입의 데이타 전송시에 $54\%$의 신호선수만으로도 대등한 대역폭을 지원할 수 있음을 보인다.

Epistatic Effects of Six Candidate Genes on Fatty Acid Composition in Korean Native Chicken

  • Jin, Shil;Lee, Seung Hwan;Lee, Doo Ho;Lee, Jun Heon
    • 한국가금학회지
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    • 제48권2호
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    • pp.51-58
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    • 2021
  • 지방산 조성은 고기의 풍미에 영향력 있는 중요한 경제 형질 중 하나이며, 다양한 유전자들의 효과가 알려져 있다. 본 연구는 한국 재래닭의 지방산 조성에 유의적인 영향을 미치는 것으로 조사된 6개의 후보 유전자들(DEGS1, ELOVL6, FABP3, FABP4, FASN, SCD)의 51개 SNP 조합에 대한 추가적인 분석결과로, 선행연구를 통하여 확인된 SNP 조합들이 가지는 상위성 효과에 대하여 조사하였다. 본 연구를 통하여 매우 다양한 유형의 SNP 조합들이 한국 재래닭의 지방산 조성에 영향을 미치는 것으로 확인되었으며, 추후에 지방산 조성과 같은 다유전자성 형질들을 실제 육종 프로그램에 활용하기 위해서는 이러한 분석이 이루어져야 될 것으로 생각된다. 본 연구 결과는 한국 재래닭의 육질, 특히 지방산 조성의 개선을 위한 유전학적인 정보를 제공할 수 있을 것으로 생각된다.

Decision Tree와 SNP정보를 이용한 간경화 환자의 감수성 예측 (Pridict of Liver cirrhosis susceptibility using Decision tree with SNP)

  • 김동회;엄상용;조성원;함기백;김진
    • 한국정보과학회:학술대회논문집
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    • 한국정보과학회 2006년도 가을 학술발표논문집 Vol.33 No.2 (A)
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    • pp.63-66
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    • 2006
  • 본 논문에서는 SNP데이터를 이용하여 간경화에 대한 감수성을 예측하기 위해 의사결정 트리를 이용하였다. 데이터는 간경화 환자와 정상환자 총 116명의 데이터를 사용하였으며, Feature 값으로는 간질환과 밀접한 연관성을 갖는 28개의 SNP데이터를 사용하였다. 실험방법은 각각의 SNP에 대하여 의사결정트리로 분류율을 측정한 후 가장 높은 분류율을 가지는 SNP부터 조합해 나가는 방식으로 C4.5 의사결정트리를 이용 leave-one-out cross validation으로 간경화와 정상을 구분하는 정확도를 측정하였다. 실험결과 간 질환 관련 SNP중 IL1RN-S130S, IRNGR2-Q64R, IL-10(-592), IL1B_S35S 4개의 SNP조합에서 65.52%의 정확도를 얻을 수 있었다.

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배추 (Brassica campestris L.) 제 1엽의 생장조절에 대한 Nitric Oxide의 역할 (The Role of Nitric Oxide on the Growth Regulation of Chinese Cabbage (Brassica campestris L.) Primary Leaves)

  • 함정훈;진창덕
    • Journal of Plant Biotechnology
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    • 제32권4호
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    • pp.293-300
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    • 2005
  • 배추 유식물 제 1엽의 생장에 미치는 sodium nitroprusside(SNP: NO 공여체)의 생리적 효과를 NO에 의한 세포 분열조절의 가능성 수준에서 조사하였다. 배추 유식물에 서로 다른 농도의 SNP (0, 200, 500 및 $1000\;{\mu}M$)를 8일간 처리하고 배양한 결과 $200\;{\mu}M$ SNP 농도에서 최대 잎 생장을 보이면서 처리농도 의존 방식으로 잎의 생장에 영향을 끼쳤다. 잎의 생장반응과 일치하여, 잎의 엽록소 및 수용성 단백질 함량은 $200\;{\mu}M$농도에서 최대로 증가하여 각각 대조구의 142%와 134%수준을 보였으나, 오히려 $1000\;{\mu}M$처리농도에서는 엽록소의 경우 미미한 감소와 그리고 단백질 함량에서는 13%의 감소가 일어났다. 게다가, 잎 조직의 DNA와 RNA 함량 역시 $200\;{\mu}M$ 처리시 최대로 증가하여 각각 대조구의 142% 및 139% 수준을 보였으나, 반면에 $1000\;{\mu}M$ 농도에서는 각각 대조구의 80% 및 84% 수준까지 감소되었다. 세포벽 합성과 관련된 효소 활성도 변화에서 phenylalanine ammonia-lyase와 guaiacol peroxidase 활성도는 $200\;{\mu}M$ SNP 처리시 대조구에 비해 각각 최대 212%와 134% 증가 하였으나, $1000\;{\mu}M$ 농도에서는 두 효소 활성도 모두 유의한 변화를 보이지 않았다. 결론적으로, 이들 결과는 효과적인 농도에서의 SNP 처리에 의한 배추 제 1엽의 생장 촉진 현상은 세포분열 유도에 대한 NO의 능력에 기인될 수 있음을 제시하는 것이다.

Calpain-10 SNP43 and SNP19 Polymorphisms and Colorectal Cancer: a Matched Case-control Study

  • Hu, Xiao-Qin;Yuan, Ping;Luan, Rong-Sheng;Li, Xiao-Ling;Liu, Wen-Hui;Feng, Fei;Yan, Jin;Yang, Yan-Fang
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권11호
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    • pp.6673-6680
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    • 2013
  • Objective: Insulin resistance (IR) is an established risk factor for colorectal cancer (CRC). Given that CRC and IR physiologically overlap and the calpain-10 gene (CAPN10) is a candidate for IR, we explored the association between CAPN10 and CRC risk. Methods: Blood samples of 400 case-control pairs were genotyped, and the lifestyle and dietary habits of these pairs were recorded and collected. Unconditional logistic regression (LR) was used to assess the effects of CAPN10 SNP43 and SNP19, and environmental factors. Both generalized multifactor dimensionality reduction (GMDR) and the classification and regression tree (CART) were used to test gene-environment interactions for CRC risk. Results: The GA+AA genotype of SNP43 and the Del/Ins+Ins/Ins genotype of SNP19 were marginally related to CRC risk (GA+AA: OR = 1.35, 95% CI = 0.92-1.99; Del/Ins+Ins/Ins: OR = 1.31, 95% CI = 0.84-2.04). Notably, a high-order interaction was consistently identified by GMDR and CART analyses. In GMDR, the four-factor interaction model of SNP43, SNP19, red meat consumption, and smoked meat consumption was the best model, with a maximum cross-validation consistency of 10/10 and testing balance accuracy of 0.61 (P < 0.01). In LR, subjects with high red and smoked meat consumption and two risk genotypes had a 6.17-fold CRC risk (95% CI = 2.44-15.6) relative to that of subjects with low red and smoked meat consumption and null risk genotypes. In CART, individuals with high smoked and red meat consumption, SNP19 Del/Ins+Ins/Ins, and SNP43 GA+AA had higher CRC risk (OR = 4.56, 95%CI = 1.94-10.75) than those with low smoked and red meat consumption. Conclusions: Though the single loci of CAPN10 SNP43 and SNP19 are not enough to significantly increase the CRC susceptibility, the combination of SNP43, SNP19, red meat consumption, and smoked meat consumption is associated with elevated risk.

Novel SNP in the coding region of the FTO gene is associated with marbling score in Hanwoo (Korean cattle)

  • Chung, Eui-Ryong
    • Journal of Animal Science and Technology
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    • 제56권8호
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    • pp.27.1-27.6
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    • 2014
  • The fat mass and obesity associated (FTO) gene plays an important role in the regulation of energy homeostasis, fat deposition and obesity. For this reason, the FTO gene is a physiological and functional candidate gene for carcass and meat quality traits in beef cattle. The objectives of this study were to identify SNPs in the exonic regions of FTO gene and to evaluate the association of these SNPs with carcass traits in Hanwoo (Korean cattle). In this study, we newly identified two exonic SNPs in Hanwoo population. The g.125550A > T SNP was located in exon 3 and the g.175675C > T SNP was located in exon 6. Genotyping of the two SNP markers was carried out using PCR-RFLP analysis in Hanwoo steers to evaluate their association with carcass traits. As a result, g.125550A > T SNP genotype was significantly associated with effects on marbling score. Animals with the AA and TT homozygous genotypes had a significantly higher marbling score (p < 0.001) than those with AT heterozygous genotype, and this was significant after Bonferroni correction of the significance threshold (p = 0.003). Dominance effect was also observed for the marbling score (P < 0.05) with higher marbling score of homozygous animals. However, no significant associations with meat quality traits were observed for the g.175675C > T SNP. Our results suggest that the exonic SNP g.125550A > T in the FTO gene may be used as a DNA marker for the selection of Hanwoo with higher marbling.