• 제목/요약/키워드: Single Nucleotide

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연속형 데이터에서 E-MDR과 D-MDR방법 비교 (A Study on the Comparison between E-MDR and D-MDR in Continuous Data)

  • 이제영;이호근
    • Communications for Statistical Applications and Methods
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    • 제16권4호
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    • pp.579-586
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    • 2009
  • 통계모형의 상호작용 효과를 분석하기위해 비모수적인 방법인 다중인자 차원 축소(MDR)방법을 사용해 왔다. MDR 방법은 사례-대조 데이터에만 적용 할 수 있다. 본 논문에서는 Regression tree 알고리즘과 더미 변수를 활용한 회귀분석 알고리즘을 사용하여 다중 범주를 High 범주와 Low범주로 분류함으로써, MDR방법에서 연속형 데이터에 적용 할 수 없는 문제를 해결하는 방법으로 제시된 Expanded MDR방법과 Dummy MDR방법을 한우의 주요 경제형질(longissimus muscle dorsi area: LMA, carcass cold weight: CWT, average daily gain: ADG)데이터에 적용하여 한우의 경제형질에 영향을 주는 주요 SNPs 마커를 규명하고, Permutation test를 통해 그 결과를 비교한다.

Variability of Osteocalcin Status in Chinese Holstein Cattle: Do Phylogeny, Vitamin D or Gene Polymorphisms Matter?

  • Ferreri, Miro;Gao, Jian;Ren, Gaixian;Chen, Liben;Su, Jingliang;Han, Bo
    • Asian-Australasian Journal of Animal Sciences
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    • 제24권2호
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    • pp.173-180
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    • 2011
  • Osteocalcin (OC), a marker of bone turnover, displays patterns in relation to physiological and genetic factors. Here, we present an association study in a population of Chinese Holstein cattle (n = 24) with OC serum concentration as a phenotypic trait. We hypothesised that OC status is associated with phylogeny, vitamin D serum level and single nucleotide polymorphisms (SNPs). Mitochondrial DNA (mtDNA) was used as an unlinked marker to examine phylogeny and linkage to measured phenotypic traits of vitamin D and OC status. Following an association study with OC serum variability as the trait, genotyping of SNPs (n = 27) in OC-related genes was performed. Candidate SNPs were chosen in genes with an emphasis on the vitamin D and vitamin K pathways. Multivariant factor analysis revealed a correlation between vitamin D serum concentration and a SNP in the gene GC (rs43338565), which encodes a vitamin D-binding protein, as well as between a SNP in NFATc1 (rs42038422) and OC concentration. However, univariate analysis revealed that population structure, vitamin D serum levels and SNPs were not significant determinants of OC status in the studied group.

Inferring Single Nucleotide Polymorphisms in MicroRNA Binding Sites of Lung Cancer-related Inflammatory Genes

  • He, Fei;Zheng, Ling-Ling;Luo, Wen-Ting;Yang, Rong;Xu, Xiao-Qin;Cai, Lin
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권8호
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    • pp.3601-3606
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    • 2014
  • Single nucleotide polymorphisms located at microRNA (miRNA)-binding sites are likely to affect the expression of miRNA targets and may contribute to the susceptibility of humans to common diseases. Here 335 candidate lung cancer-related inflammatory genes were selected according to the existing literature and database. We identified putative miRNA-binding sites of 149 genes by specialised algorithms and screened SNPs in the 3'UTRs of these genes. By calculating binding free energy, we sorted 269 SNPs on the basis of the possibility of prediction. The proposed approach could help to easy the identification of functionally relevant SNPs and minimize the workflow and the costs.

Genomic Selection for Adjacent Genetic Markers of Yorkshire Pigs Using Regularized Regression Approaches

  • Park, Minsu;Kim, Tae-Hun;Cho, Eun-Seok;Kim, Heebal;Oh, Hee-Seok
    • Asian-Australasian Journal of Animal Sciences
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    • 제27권12호
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    • pp.1678-1683
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    • 2014
  • This study considers a problem of genomic selection (GS) for adjacent genetic markers of Yorkshire pigs which are typically correlated. The GS has been widely used to efficiently estimate target variables such as molecular breeding values using markers across the entire genome. Recently, GS has been applied to animals as well as plants, especially to pigs. For efficient selection of variables with specific traits in pig breeding, it is required that any such variable selection retains some properties: i) it produces a simple model by identifying insignificant variables; ii) it improves the accuracy of the prediction of future data; and iii) it is feasible to handle high-dimensional data in which the number of variables is larger than the number of observations. In this paper, we applied several variable selection methods including least absolute shrinkage and selection operator (LASSO), fused LASSO and elastic net to data with 47K single nucleotide polymorphisms and litter size for 519 observed sows. Based on experiments, we observed that the fused LASSO outperforms other approaches.

Analysis on Association of a SNP in the Chicken OBR Gene with Growth and Body Composition Traits

  • Wang, Ying;Li, Hui;Zhang, YuanDan;Gu, ZhiLiang;Li, ZhiHui;Wang, QiGui
    • Asian-Australasian Journal of Animal Sciences
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    • 제19권12호
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    • pp.1706-1710
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    • 2006
  • Leptin receptor (OBR) is a member of the class I cytokine receptor family. It signals mainly via the JAK/STAT pathway and plays an important role in regulating body energy storage and metabolism. This study was designed to investigate the effects of the OBR gene on chicken growth and body composition. Broiler lines selected divergently for or against abdominal fat were used. Primers for the exon9-region in the OBR gene were designed using chicken genomic sequences from the public genome domain. A C/A single nucleotide polymorphism (SNP) was found and its three genotypes (AA, AB and BB) were identified in this population. The results showed that the OBR polymorphism was associated with fatness traits, such as abdominal fat weight and abdominal fat percentage. This research suggests that OBR or a linked gene has effect on fat deposition in the chicken.

Molecular markers based on chloroplast and nuclear ribosomal DNA regions which distinguish Korean-specific ecotypes of the medicinal plant Cudrania tricuspidata Bureau

  • Lee, Soo Jin;Shin, Yong-Wook;Kim, Yun-Hee;Lee, Shin-Woo
    • Journal of Plant Biotechnology
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    • 제44권3호
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    • pp.235-242
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    • 2017
  • Cudrania tricuspidata Bureau is a widely-used, medicinal, perennial and woody plant. Obtaining information about the genetic diversity of plant populations is highly important with regard toconservation and germplasm utilization. Although C. tricuspidata is an important medicinal plant species registered in South Korea, no molecular markers are currently available to distinguish Korean-specific ecotypes from other ecotypes from different countries. In this study, we developed single nucleotide polymorphism (SNP) markers derived from the chloroplast and nuclear genomic sequences, which serve to to identify distinct Korean-specific ecotypes of C. tricuspidata via amplification refractory mutation system (ARMS)-PCR and high resolution melting (HRM) curve analyses. We performed molecular authentication of twelve C. tricuspidata ecotypes from different regions using DNA sequences in the maturaseK (MatK) chloroplast intergenic region and nuclear ribosomal DNA internal transcribed spacer (ITS) regions. The SNP markers developed in this study are useful for rapidly identifying specific C. tricuspidata ecotypes from different regions.

Effect of Single Nucleotide Polymorphism of Endothelial Differentiation G-Protein Coupled Receptor 1 (EDG1) Gene on Marbling Score in Hanwoo

  • Shin, Sung-Chul;Chung, Eui-Ryong
    • 한국축산식품학회지
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    • 제32권6호
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    • pp.776-782
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    • 2012
  • Marbling (intramuscular fat) is the most economically important meat quality trait in Hanwoo (Korean cattle). The endothelial differentiation G-protein coupled receptor 1 (EDG1) gene, involved in blood vessel formation, is located within the genomic region of a quantitative trait locus (QTL) for marbling on bovine chromosome 3. Thus, the EDG1 gene can be considered as a positional and functional candidate gene for meat quality in beef cattle. This study aimed to identify single nucleotide polymorphisms (SNPs) in the EDG1 gene and to evaluate their associations with carcass traits in Hanwoo population. We have sequenced a fragment of 5'-UTR of the EDG1 gene and identified one SNP. Genotyping of the g.166A>G SNP marker was carried out using PCR-RFLP analysis in 309 Hanwoo steers in order to evaluate their association with carcass traits. The g.166A>G SNP marker showed a significant effect on the marbling score. Animals with the GG genotype had higher marbling score compared with AA and AG genotypes (p<0.05). This SNP marker also showed a significant additive effects for the marbling score (p<0.05). These results suggest that the EDG1 gene can be used as a molecular marker for DNA marker-assisted selection in order to increase the levels of the marbling score in Hanwoo.

Genome-wide association study to identify canine hip dysplasia loci in dogs

  • Kang, Ji Min;Seo, Dongwon;Lee, Soo Hyun;Lee, Doo Ho;Kim, Yeong Kuk;Choi, Bong Hwan;Lee, Seung Hwan
    • Journal of Animal Science and Technology
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    • 제62권3호
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    • pp.306-312
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    • 2020
  • Korean army dogs are raised for special purposes and have contributed much to society. However, several diseases occur in dogs. Canine hip dysplasia (CHD) is a musculoskeletal disorder that occurs frequently in Korean army dogs and interferes with their activities. If we could control CHD, this would have a positive effect on their performance. This study performed a genome-wide association study (GWAS) in 69 Korean army dogs to find significant loci for CHD using 170K single nucleotide polymorphisms (SNPs). CHD was classified according to the Norberg angle criterion. The control group comprised 62 dogs classified as relatively normal, and 7 dogs with severe CHD formed the case group. From the GWAS analysis, we concluded that SNPs present on chromosome 4 might have a significant impact on the overall expression of canine hip dysplasia.

Single-nucleotide polymorphisms in prion protein gene of the Korean subspecies of Chinese water deer

  • Jeong, Hyun-Jeong;Lee, Joong-Bok;Park, Seung-Yong;Song, Chang-Seon;Kim, Bo-Sook;Rho, Jung-Rae;Yoo, Mi-Hyun;Jeong, Byung-Hoon;Kim, Yong-Sun;Choi, In-Soo
    • 대한수의학회지
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    • 제49권1호
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    • pp.59-62
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    • 2009
  • Susceptibility to chronic wasting disease (CWD) in cervid species has been associated with polymorphisms in the prion protein gene (PRNP). The single nucleotide polymorphisms (SNPs) were found in the PRNP of the Korean subspecies of Chinese water deer via analyses of the DNA sequences obtained from 34 individual deer. Two SNPs were detected at codons 77 and 100. One SNP at codon 77 encoding Glycine was determined to be a silent mutation but the other SNP detected at codon 100 induced an amino acid change, from Asparagine to Serine. The prion protein (PrP) amino acid sequence of the water deer showed 98.8-99.2% homology with those of American elk, white-tailed deer and mule deer. The PrP of the water deer contained amino acid residues closely related with CWD-susceptibility. This study is the first to describe genetic variations in the PRNP of the Korean subspecies of Chinese water deer.

소 모색관련 MC1R 유전자의 SNP와 관련한 MGB probe에 기초한 real-time PCR을 이용한 한우육과 Holstein육의 판별 (Identification of Hanwoo and Holstein meat using MGB probe based real-time PCR associated with single nucleotide polymorphism (SNP) in Melanocortin 1 receptor (MC1R) gene)

  • 박성도;김태중;이재일
    • 대한수의학회지
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    • 제45권1호
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    • pp.25-28
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    • 2005
  • The melanocortin 1 receptor (MC1R) plays an important role in regulation of melanin pigment synthesis within mammalian melanocytes. Mutations within the gene encoding MC1R have been shown to explain coat color variations within several mammalian species including cattle. To develope a rapid and accurate method for the identification of Hanwoo meat, we performed a single nucleotide polymorphism (SNP) analysis in Melanocortin 1 receptor (MC1R) gene using TaqMan$^{(R)}$ MGB probe-based real-time PCR. Two specific probes (one for Hanwoo and the other for Holstein and Black angus) were designed. At the 5' end of 2 TaqMan$^{(R)}$ MGB probes, 6-carboxyfluorescein (FAM) was labeled for Hanwoo, and VIC for Holstein and Black angus. As a result, Hanwoo samples showed FAM-positive signal only, whereas other samples showed VIC-positive. This result suggests that the TaqMan$^{(R)}$ MGB probe based real-time PCR technique would be very accurate, easy and reproducible method to discriminate between Hanwoo meat and Holstein/Black angus meat.