• Title/Summary/Keyword: SNP

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The Possibility of TBC1D21 as a Candidate Gene for Teat Numbers in Pigs

  • Jin, S.;Lee, J.B.;Kang, K.;Yoo, C.K.;Kim, B.M.;Park, H.B.;Lim, H.T.;Cho, I.C.;Maharani, D.;Lee, J.H.
    • Asian-Australasian Journal of Animal Sciences
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    • v.26 no.10
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    • pp.1374-1378
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    • 2013
  • Based on a quantitative traits locus (QTL) study using a $F_2$ intercross between Landrace and Korean native pigs, a significant QTL affecting teat numbers in SSC7 was identified. The strong positional candidate gene, TBC1D21, was selected due to its biological function for epithelial mesenchymal cell development. Sequence analysis revealed six single nucleotide polymorphisms (SNPs) in the TBC1D21 gene. Among these, two SNP markers, one silent mutation (SNP01) for g.13,050A>G and one missense mutation (SNP04) for c.829A>T (S277C), were genotyped and they showed significant associations with teat number traits (p value = 6.38E-05 for SNP01 and p value = 1.06E-07 for SNP04 with total teat numbers). Further functional validation of these SNPs could give valuable information for understanding the teat number variation in pigs.

EvoSNP-DB: A database of genetic diversity in East Asian populations

  • Kim, Young Uk;Kim, Young Jin;Lee, Jong-Young;Park, Kiejung
    • BMB Reports
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    • v.46 no.8
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    • pp.416-421
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    • 2013
  • Genome-wide association studies (GWAS) have become popular as an approach for the identification of large numbers of phenotype-associated variants. However, differences in genetic architecture and environmental factors mean that the effect of variants can vary across populations. Understanding population genetic diversity is valuable for the investigation of possible population specific and independent effects of variants. EvoSNP-DB aims to provide information regarding genetic diversity among East Asian populations, including Chinese, Japanese, and Korean. Non-redundant SNPs (1.6 million) were genotyped in 54 Korean trios (162 samples) and were compared with 4 million SNPs from HapMap phase II populations. EvoSNP-DB provides two user interfaces for data query and visualization, and integrates scores of genetic diversity (Fst and VarLD) at the level of SNPs, genes, and chromosome regions. EvoSNP-DB is a web-based application that allows users to navigate and visualize measurements of population genetic differences in an interactive manner, and is available online at [http://biomi.cdc.go.kr/EvoSNP/].

A Quantitative Communication Performance Analysis of Multi-Layered Bus-Based SoC Architectures (다중 버스 기반 SoC 구조의 정량적 통신 성능 분석)

  • Lee, Jaesung;Park, Jae-Hong
    • Proceedings of the Korean Institute of Information and Commucation Sciences Conference
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    • 2012.10a
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    • pp.780-783
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    • 2012
  • Recently, the SoC industry mainly uses various multi-layered bus architectures. However, reckless use of bus layers may results in on-chip communication resources and waste of silicon area. This paper performs a quantitative analysis to compare the two de-facto on-chip buses and SNP. Through the performance estimation, the performance of SNP turns out to be significantly enhanced for asymmetric write and read traffic (non-central F distribution) while symmetric traffic is similar to that of AXI. More specifically, SNP properly places IP cores on the top or bottom, induces the write and read channels to be balanced, and achieves about twenty percent improved performance compared to AXI.

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Sodium nitroprusside mediates seedling development and attenuation of oxidative stresses in Chinese cabbage

  • Sung, Chang-Hyun;Hong, Jeum-Kyu
    • Plant Biotechnology Reports
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    • v.4 no.4
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    • pp.243-251
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    • 2010
  • Nitric oxide (NO) has been shown to be involved in diverse physiological processes in microbes, animals and plants. In this study, the involvement of NO in the development and possible roles in oxidative stress protection of Chinese cabbage (Brassica rapa subsp. pekinensis cv. Samrack-ulgari) seedlings were investigated. Exogenous application of sodium nitroprusside (SNP) retarded root elongation, while increasing lateral root formation of Chinese cabbage. Plants showed no signs of external stress due to SNP application in true leaves. Cotyledons of 3-week-old Chinese cabbage plants were found to be highly sensitive to SNP application. Treated cotyledons displayed rapid tissue collapse and associated cell death. Although SNP application reduced root growth under normal growth conditions, it also enhanced methyl viologen (MV)-mediated oxidative stress tolerance. Analysis of SNP application to Chinese cabbage leaf disks, revealed SNP-induced tolerance against oxidative stresses by MV and $H_2O_2$, and evidence includes prevention of chlorophyll loss, superoxide anion (${O_2}^-$) accumulation and lipid peroxidation. This report supports a role for nitric oxide in modulating early seedling development, programmed cell death and stress tolerance in Chinese cabbage.

Identification of functional SNPs in genes and their effects on plant phenotypes

  • Huq, Md. Amdadul;Akter, Shahina;Nou, Ill Sup;Kim, Hoy Taek;Jung, Yu Jin;Kang, Kwon Kyoo
    • Journal of Plant Biotechnology
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    • v.43 no.1
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    • pp.1-11
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    • 2016
  • Single nucleotide polymorphism (SNP) is an abundant form of genetic variation within individuals of species. DNA polymorphism can arise throughout the whole genome at different frequencies in different species. SNP may cause phenotypic diversity among individuals, such as individuals with different color of plants or fruits, fruit size, ripening, flowering time adaptation, quality of crops, grain yields, or tolerance to various abiotic and biotic factors. SNP may result in changes in amino acids in the exon of a gene (asynonymous). SNP can also be silent (present in coding region but synonymous). It may simply occur in the noncoding regions without having any effect. SNP may influence the promoter activity for gene expression and finally produce functional protein through transcription. Therefore, the identification of functional SNP in genes and analysis of their effects on phenotype may lead to better understanding of their impact on gene function for varietal improvement. In this mini-review, we focused on evidences revealing the role of functional SNPs in genes and their phenotypic effects for the purpose of crop improvements.

한우 Leptin 비만 유전자와 도체 및 육질 형질과의 연관성 구명

  • Sin, Seong-Cheol;Jeong, Hwa-Cheol;Kim, Hui-Seon;Jeon, Sang-Hui;Gwon, Su-Yeon;Kim, Bo-Hyeon;Jeong, Gu-Yong;Jeong, Eui-Ryong
    • Proceedings of the Korean Society for Food Science of Animal Resources Conference
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    • 2006.05a
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    • pp.112-116
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    • 2006
  • 본 연구는 인간과 동물의 식욕조절, 에너지 대사, 체지방 축적 및 지방 대사에 핵심적인 역할을 담당하는 비만 유전자 leptin의 SNP를 검색하고, 이들 SNP 마커와 한우의 도체 및 육질형질들과의 연관성을 구명하여 고급육 생산 한우 조기 선발 및 육질 진단을 위한 분자 표지 마커로 활용하기 위하여 수행하였다. 한우 leptin 유전자의 exon 2 및 3번 영역을 포함한 염기서열 분석결과 총 3개의 SNP를 검출하였고, PCR-RFLP및 SSCP기법을 이용하여 SNP유전자형을 분석한 결과 exon 2 영역 내 C1180T SNP부위가 한우의 근내 지방도 및 등지방 두께와 유의적인 연관성(p<0.05)이 있는 것으로 나타났다. 따라서, 본 연구를 통해 개발된 한우 leptin 유전자의 특정한 SNP marker는 근내 지방도가 우수한 고급육을 생산하는 한우의 조기식별 및 마블링 등 육질진단에 매우 유용한 DNA 표지인자로 활용할 수 있을 기대된다.

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UNDERSTANDING OF SINGLE NUCLEOTIDE POLYMORPHISM OF HUMAN GENOME (인간 게놈의 단일염기변형 (Single Nucleotide Polymorphism; SNP)에 대한 이해)

  • Oh, Jung-Hwan;Yoon, Byung-Wook
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.34 no.4
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    • pp.450-455
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    • 2008
  • A Single Nucleotide Polymorphism (SNP) is a small genetic change or variation that can occur within a DNA sequence. It's the difference of one base at specific base pair position. SNP variation occurs when a single nucleotide, such as an A, replaces one of the other three nucleotide letters-C, G, or T. On average, SNP occur in the human population more than 1 percent of the time. They occur once in every 300 nucleotides on average, which means there are roughly 10 million SNPs in the human genome. Because SNPs occur frequently throughout the genome and tend to be relatively stable genetically, they serve as excellent biological markers. They can help scientists locate genes that are associated with disease such as heart disease, cancer, diabetes. They can also be used to track the inheritance of disease genes within families. SNPs may also be associated with absorbance and clearance of therapeutic agents. In the future, the most appropriate drug for an individual could be determined in advance of treatment by analyzing a patient's SNP profile. This pharmacogenetic strategy heralds an era in which the choice of drugs for a particular patient will be based on evidence rather than trial and error (so called "personalized medicine").

Single nucleotide polymorphism marker combinations for classifying Yeonsan Ogye chicken using a machine learning approach

  • Eunjin, Cho;Sunghyun, Cho;Minjun, Kim;Thisarani Kalhari, Ediriweera;Dongwon, Seo;Seung-Sook, Lee;Jihye, Cha;Daehyeok, Jin;Young-Kuk, Kim;Jun Heon, Lee
    • Journal of Animal Science and Technology
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    • v.64 no.5
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    • pp.830-841
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    • 2022
  • Genetic analysis has great potential as a tool to differentiate between different species and breeds of livestock. In this study, the optimal combinations of single nucleotide polymorphism (SNP) markers for discriminating the Yeonsan Ogye chicken (Gallus gallus domesticus) breed were identified using high-density 600K SNP array data. In 3,904 individuals from 198 chicken breeds, SNP markers specific to the target population were discovered through a case-control genome-wide association study (GWAS) and filtered out based on the linkage disequilibrium blocks. Significant SNP markers were selected by feature selection applying two machine learning algorithms: Random Forest (RF) and AdaBoost (AB). Using a machine learning approach, the 38 (RF) and 43 (AB) optimal SNP marker combinations for the Yeonsan Ogye chicken population demonstrated 100% accuracy. Hence, the GWAS and machine learning models used in this study can be efficiently utilized to identify the optimal combination of markers for discriminating target populations using multiple SNP markers.

SNP Analysis Method for Next-generation Sequencing Data (차세대 시퀀싱 데이터를 위한 SNP 분석 방법)

  • Hong, Sang-kyoon;Lee, Deok-hae;Kong, Jin-hwa;Kim, Deok-Keun;Hong, Dong-wan;Yoon, Jee-hee
    • Proceedings of the Korea Information Processing Society Conference
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    • 2010.11a
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    • pp.95-98
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    • 2010
  • 최근 차세대 시퀀싱 기술의 급속한 발전에 따라 서열 정보의 해독이 비교적 쉬워지면서 개인별 맞춤의학의 실현에 대한 기대와 관심이 높아지고 있다. 각 개인의 서열 정보 사이에는 SNP (single nucleotide polymorphism), Indel, CNV (copy number variation) 등의 다양한 유전적 구조 변이가 존재하며, 이러한 서열 정보의 부분적 차이는 각 개인의 유전적 특성 및 질병 감수성 등과 밀접한 관련을 갖는다. 본 연구에서는 차세대 시퀀싱 결과로 산출되는 수많은 짧은 DNA 서열 조각인 리드 데이터를 이용한 SNP 추출 알고리즘을 제안한다. 제안된 알고리즘에서는 레퍼런스 시퀀스의 각 위치에 대한 리드 시퀀스의 매핑 정보를 기반으로 SNP 후보 영역을 추출하며, 품질 정보 등을 활용하여 에러 발생률을 최소화한다. 또한 대규모 시퀀싱 데이터와 SNP 구조 변이 데이터의 효율적인 저장/검색을 지원하는 시각적 분석 도구를 구현하여 제안된 방식의 유용성을 검증한다.

Development of SNP markers for the identification of apple flesh color based on RNA-Seq data (RNA-Seq data를 이용한 사과 과육색 판별 SNP 분자표지 개발)

  • Kim, Se Hee;Park, Seo Jun;Cho, Kang Hee;Lee, Han Chan;Lee, Jung Woo;Choi, In Myung
    • Journal of Plant Biotechnology
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    • v.44 no.4
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    • pp.372-378
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    • 2017
  • For comparison of the transcription profiles in apple (Malus domestica L.) cultivars differing in flesh color expression, two cDNA libraries were constructed. Differences in gene expression between red flesh apple cultivar, 'Redfield' and white flesh apple cultivar, 'Granny Smith' were investigated by next-generation sequencing (NGS). Expressed sequence tag (EST) of clones from the red flesh apple cultivar and white flesh apple cultivar were selected for nucleotide sequence determination and homology searches. High resolution melting (HRM) technique measures temperature induced strand separation of short PCR amplicons, and is able to detect variation as small as one base difference between red flesh apple cultivars and white flesh apple cultivars. We applied high resolution melting (HRM) analysis to discover single nucleotide polymorphisms (SNP) based on the predicted SNP information derived from the apple EST database. All 103 pairs of SNPs were discriminated, and the HRM profiles of amplicons were established. Putative SNPs were screened from the apple EST contigs by HRM analysis displayed specific difference between 10 red flesh apple cultivars and 11 white flesh apple cultivars. In this study, we report an efficient method to develop SNP markers from an EST database with HRM analysis in apple. These SNP markers could be useful for apple marker assisted breeding and provide a good reference for relevant research on molecular mechanisms of color variation in apple cultivars.