• 제목/요약/키워드: SNP genotyping

검색결과 168건 처리시간 0.027초

Identification of Candidate SNP (Single Nucleotide Polymorphism) for Growth and Carcass Traits Related to QTL on Chromosome 6 in Hanwoo (Korean Cattle)

  • Lee, Y.S.;Lee, J.H.;Lee, J.Y.;Kim, J.J.;Park, H.S.;Yeo, J.S.
    • Asian-Australasian Journal of Animal Sciences
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    • 제21권12호
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    • pp.1703-1709
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    • 2008
  • As genetic markers, single nucleotide polymorphisms (SNP) are very appropriate for the development of genetic tests for economic traits in livestock. Several microsatellite markers have been identified as useful markers for the genetic improvement of Hanwoo. Among those markers, ILSTS035 was recently mapped at a similar position with four SNPs (AH1_11, AH1_9, 31465_446, and 12273_165) in a linkage map of EST-based SNP in BAT6. Among the four SNPs, two SNPs (31465_446 and 12273_165) were analyzed using BLAST at the NCBI web site. The sequences including the 12273_165 SNP were identified at the intron region within the LOC534614 gene on the gene sequence map (Bos taurus NCBI Map view, build 3.1). The LOC534614 gene represents a protein similar to myosin heavy chain, fat skeletal muscle, embryonic isoform 1 in the dog, and myosin_1 (Myosin heavy chain D) in Macaca mulatta. In cattle, the myosin heavy chain was associated with muscle development. The phenotypic data for growth and carcass traits in the 415 animals were analyzed by the mixed ANCOVA (analysis of covariance) linear model using PROC GLM module in SAS v9.1. By the genotyping of Hanwoo individuals (n = 415) to evaluate the association of SNP with growth and carcass traits, it was shown that the 12273_165 SNP region within LOC534614 may be a candidate marker for growth. The results of the statistical analyses suggested that the genotype of the 12273_165 SNP significantly affected birth weight, weight of the cattle at 24 months of age, average daily gain and carcass cold weight (p<0.05). Consequently, the 12273_165 SNP polymorphisms at the LOC534614 gene may be associated with growth in Hanwoo, and functional validation of polymorphisms in LOC534614 should be performed in the future.

Identification of genetic polymorphisms in FABP3 and FABP4 and putative association with back fat thickness in Korean native cattle

  • Cho, Seo-Ae;Park, Tae-Sung;Yoon, Du-Hak;Cheong, Hyun-Sub;Namgoong, Sohg;Park, Byung-Lae;Lee, Hye-Won;Han, Chang-Soo;Kim, Eun-Mi;Cheong, Il-Cheong;Kim, Hee-Bal;Shin, Hyoung-Doo
    • BMB Reports
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    • 제41권1호
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    • pp.29-34
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    • 2008
  • The aim of this study was to determine whether single nucleotide polymorphisms (SNP) in the beef cattle adipocyte fatty-acid binding protein 3 and 4 (FABP3 and FABP4) genes are associated with carcass weight (CW) and back fat thickness (BF) of beef cattle. By direct DNA sequencing in 24 unrelated Korean native cattle, we identified 20 SNPs in FABP3 and FABP4. Among them, 10 polymorphic sites were selected for genotyping in our beef cattle. We performed SNP, haplotype and linkage disequilibrium studies on 419 Korean native cattle with the 10 SNPs in the FABP genes. Statistical analysis revealed that 220A>G (I74V) and 348+303T>C polymorphisms in FABP4 showed putative associations with BF traits (P=0.02 and 0.01, respectively). Our findings suggest that the polymorphisms in FABP4 may play a role in determining one of the important genetic factors that influence BF in beef cattle.

Development of SNP marker set for marker-assisted backcrossing (MABC) in cultivating tomato varieties

  • Park, GiRim;Jang, Hyun A;Jo, Sung-Hwan;Park, Younghoon;Oh, Sang-Keun;Nam, Moon
    • 농업과학연구
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    • 제45권3호
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    • pp.385-400
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    • 2018
  • Marker-assisted backcrossing (MABC) is useful for selecting offspring with a highly recovered genetic background for a recurrent parent at early generation unlike rice and other field crops. Molecular marker sets applicable to practical MABC are scarce in vegetable crops including tomatoes. In this study, we used the National Center for Biotechnology Information- short read archive (NCBI-SRA) database that provided the whole genome sequences of 234 tomato accessions and selected 27,680 tag-single nucleotide polymorphisms (tag-SNPs) that can identify haplotypes in the tomato genome. From this SNP dataset, a total of 143 tag-SNPs that have a high polymorphism information content (PIC) value (> 0.3) and are physically evenly distributed on each chromosome were selected as a MABC marker set. This marker set was tested for its polymorphism in each pairwise cross combination constructed with 124 of the 234 tomato accessions, and a relatively high number of SNP markers polymorphic for the cross combination was observed. The reliability of the MABC SNP set was assessed by converting 18 SNPs into Luna probe-based high-resolution melting (HRM) markers and genotyping nine tomato accessions. The results show that the SNP information and HRM marker genotype matched in 98.6% of the experiment data points, indicating that our sequence analysis pipeline for SNP mining worked successfully. The tag-SNP set for the MABC developed in this study can be useful for not only a practical backcrossing program but also for cultivar identification and F1 seed purity test in tomatoes.

A Single Nucleotide Polymorphism in LOC534614 as an Unknown Gene Associated with Body Weight and Cold Carcass Weight in Hanwoo (Korean Cattle)

  • Lee, Y.S.;Oh, D.Y.;Kim, J.J.;Lee, J.H.;Park, H.S.;Yeo, J.S.
    • Asian-Australasian Journal of Animal Sciences
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    • 제23권12호
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    • pp.1543-1551
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    • 2010
  • A major aim of cattle genome research is to identify candidate genes associated with meat quantity and quality through QTL analysis for application in the livestock industry. Therefore, this study focused on discovery of useful SNPs within the LOC534614 gene, containing 12273_165 SNP which is located on the same site as the QTL on chromosome 6, and evaluation of the association between SNP and body weight and cold carcass weight in Hanwoo (Korean cattle) As a result of a BLAST search of the NCBI web site, we discovered that the mRNA sequence of the LOC534614 gene was similar to that of the coiled-coil domain containing 158 (CCDC158) for dog and human. According to the direct DNA sequence from the CCDC158 gene, we identified 19 polymorphic SNPs within exons and their flanking regions. Among them, 17 polymorphic SNPs were selected for genotyping in Hanwoo (n = 476) and seventeen marker haplotypes containing 12273_165 SNP (frequency >0.1) were identified. As a result of the association between 17 polymorphic SNPs and Hanwoo (n = 476), g.8778G>A SNP in exon 6 was found to be a non-synonymous SNP, and was significantly associated with body weight and cold carcass weight (p<0.05). We discovered 19 polymorphic SNPs in the CCDC158 gene on the QTL region of BTA 6 in Hanwoo and identified that the g.8778G>A SNP was significantly associated with body weight and cold carcass weight (p<0.05), which causes an amino acid variation from valine to methionine. Furthermore, statistical analysis demonstrated that the CCDC158 gene is strongly associated with body weight and cold carcass weight in Hanwoo. In this regard, the g.8778G>A SNP in the CCDC158 gene can be useful as a positional candidate for body weight and cold carcass weight for marker-assisted selection in Hanwoo.

Association of SNP Marker in IGF-I and MYF5 Candidate Genes with Growth Traits in Korean Cattle

  • Chung, E.R.;Kim, W.T.
    • Asian-Australasian Journal of Animal Sciences
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    • 제18권8호
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    • pp.1061-1065
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    • 2005
  • Growth rate is one of the economically important quantitative traits that affect carcass quantity in beef cattle. Two genes, bovine insulin-like growth factor I (IGF-I) and myogenic factor 5 (MYF5), were chosen as candidate genes for growth traits due to their important role in growth and development of mammals. The objectives of this study were to determine gene-specific single nucleotide polymorphism (SNP) markers of the IGF-I and MYF5 positional candidate genes and to investigate their associations with growth traits in Korean cattle. Genotyping of the SNP markers in these candidate genes was carried out using the single strand conformation polymorphism (SSCP) analysis. The frequencies of A and B alleles were 0.72 and 0.28 for IGF-I gene and 0.39 and 0.61 for MYF5 gene, respectively, in Korean cattle population examined. The gene-specific SNP marker association analysis indicated that the SNP genotype in IGF-I gene showed a significant association (p<0.05) with weight at 3 months (W3), and cows with AB genotype had higher W3 than BB genotype cows. The SNP genotype of MYF5 gene was found to have a significant effect (p<0.05) on the weight at 12 months (W12) and average daily gain (ADG), and cows with BB and AB genotypes had higher W12 and ADG compared with cows with AA genotype, respectively. However, no significant association between the SNP genotypes and any other growth traits was detected. The gene-specific SNP markers in the IGF-I and MYF5 candidate genes may be useful for selection on growth traits in Korean cattle.

Genome wide association study for growth in Pakistani dromedary camels using genotyping-by-sequencing

  • Sajida Sabahat;Asif Nadeem;Rudiger Brauning;Peter C. Thomson;Mehar S. Khatkar
    • Animal Bioscience
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    • 제36권7호
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    • pp.1010-1021
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    • 2023
  • Objective: Growth performance and growth-related traits have a crucial role in livestock due to their influence on productivity. This genome-wide association study (GWAS) in Pakistani dromedary camels was conducted to identify single nucleotide polymorphisms (SNPs) associated with growth at specific camel ages, and for selected SNPs, to investigate in detail how their effects change with increasing camel age. This is the first GWAS conducted on dromedary camels in this region. Methods: Two Pakistani breeds, Marecha and Lassi, were selected for this study. A genotyping-by-sequencing method was used, and a total of 65,644 SNPs were identified. For GWAS, weight records data with several body weight traits, namely, birthweight, weaning weight, and weights of camels at 1, 2, 4, and 6 years of age were analysed by using model-based growth curve analysis. Age-specific weight data were analysed with a linear mixed model that included fixed effects of SNP genotype as well as sex. Results: Based on the q-value method for false discovery control, for Marecha camels, five SNPs at q<0.01 and 96 at q<0.05 were significantly associated with the weight traits considered, while three (q<0.01) and seven (q<0.05) SNP associations were identified for Lassi camels. Several candidate genes harbouring these SNP were discovered. Conclusion: These results will help to better understand the genetic architecture of growth including how these genes are expressed at different phases of their life. This will serve to lay the foundations for applied breeding programs of camels by allowing the genetic selection of superior animals.

한우 CLMN 유전자 exon 8번 영역의 신규 단일염기다형과 근내지방도의 연관성에 관한 연구 (A Novel SNP in the Exon 8 Region of the CLMN Gene and Its Association with Marbling Score in Hanwoo)

  • 신성철;정의룡
    • 생명과학회지
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    • 제29권12호
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    • pp.1314-1320
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    • 2019
  • 본 연구는 한우 CLMN 유전자 exon 8번 영역의 단일염기다형과 육량 및 육질형질과의 연관성을 평가하기 위해 수행하였다. 또한, 한우 등심조직에서 근육 내 지방함량의 극명한 차이를 나타내는 고지방육 그룹과 저지방육 그룹 간 CLMN 유전자의 발현양상을 비교 분석하였다. 그 결과 CLMN 유전자는 고지방육 그룹에서 더 높게 발현되었다. 한우 CLMN 유전자의 exon 8번 영역에서 총 9개의 단일염기다형을 검출하였으며, 이들 SNP의 유전자형과 육량 및 육질형질과의 연관성을 평가하기 위해 direct-sequencing 분석을 통하여 각 개체별 SNP genotyping을 수행하였다. 그 결과, exon 8번 영역 내에 존재하는 g.23249G>C SNP가 근내지방도 형질과 유의적인 연관성이 있는 것으로 분석되었다 즉, CC 및 GC 유전자형을 가진 개체들은 GG 유전자형을 가진 개체들에 비해 유의적으로 더 높은 근내지방도를 갖는 것으로 분석되었다. 연관불평형 분석을 통해 CLMN 유전자의 haplotype을 구성하고 육량 및 육질형질과의 연관성을 분석한 결과 근내지방도와 유의적 연관성이 입증되었다. 즉, CC-CC haplotype(g.23249G>C and g.23465T>C SNPs)을 가진 개체들이 CT 및 GT haplotype을 갖는 개체들에 비해 유의적으로 더 높은 근내지방도를 갖는 것을 확인하였다. 따라서 본 연구에서 발굴된 CLMN 유전자의 SNP는 육량과 육질형질이 우수한 한우를 선발하기 위한 분자 마커로 활용 가능할 것으로 사료된다.

소 동일성 검사에 적용 가능한 14 Microsatellite marker와 60 Single Nucleotide Polymorphism marker 간의 판별 효율성 비교 (A Comparison of Discriminating Powers Between 14 Microsatellite markers and 60 SNP Markers Applicable to the Cattle Identification Test)

  • 임현태;서보영;정은지;유채경;윤두학;전진태
    • Journal of Animal Science and Technology
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    • 제51권5호
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    • pp.353-360
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    • 2009
  • 14개의 microsatellite (MS) marker를 사용 할 경우 무작위 교배 집단(PI) 가정 하에 $3.43{\times}10^{-27}$의 판별율을 보여 60 개의 single nucleotide polymorphism (SNP) marker에 비해 약 1,000배의 높은 판별 효과를 나타내는 것으로 파악되었다. 그러나, 60개의 SNP marker의 경우 반형매 교배 집단($PI_{half-sibs}$)으로 가정할 경우 $4.69{\times}10^{-20}$과 전형매 교배 집단($PI_{sibs}$)으로 가정 할 경우 $8.02{\times}10^{-12}$으로 14개의 MS marker에 비해 약 10배와 10,000배의 높은 판별 효과를 나타내는 것으로 추정되었다. 이러한 결과는 무작위 교배집단에서는 사용된 marker의 전체 대립유전자수(MS : SNP = 146 : 120)에 의하여 판별효율이 결정되는 반면, 혈연관계가 높은 반형매와 전형매 집단에서는 비슷한 총 대립유전자수일 경우 marker의 수(MS : SNP = 14 : 60)가 많은 경우가 더 높은 판별율을 보이는 것으로 나타났다. 한육우의 경우 소수의 보증 종모우를 이용해 인공수정을 통해 형성 된 거대한 반형매 집단으로 가정하였을 경우 MS와 SNP marker의 판별율은 10배 정도의 차이로 큰 차이를 보이지 않을 것으로 예견되나, likelihood rato를 이용 하는 inclusion 방법에 의하여 부모를 동시에 찾을 확률은 MS marker가 1,000 배 정도 더 효율적인 것으로 나타났다. SNP marker의 장점인 변이의 안정성, 유전자형 분석의 자동화 및 대용량화 등을 한육우의 동일성 검사에 활용하기 위해서는 분석비용 절감 방안과 분석방법 및 장비의 국산화 등 실용 및 상용화적 측면에서의 연구개발이 필요하다고 사료된다.

FESD II: A Revised Functional Element SNP Database of Human Ethnicities

  • Kim, Hyun-Ju;Kim, Il-Hyun;Shin, Ki-Hoon;Park, Young-Kyu;Kang, Hyo-Jin;Kim, Young-Joo
    • Genomics & Informatics
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    • 제5권4호
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    • pp.188-193
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    • 2007
  • The Functional Element SNPs Database (FESD) categorizes functional elements in human genic regions and provides a set of single nucleotide polymorphisms (SNPs) located within each area. Users may select a set of SNPs in specific functional elements with haplotype information and obtain flanking sequences for genotyping. Our previous version of FESD has been improved in several ways. We regenerated all the data in FESD II from recently updated source data such as HapMap, UCSC GoldenPath, dbSNP, OMIM, and $TRANSFAC^{(R)}$. Users can obtain information about tagSNPs and simulate LD blocks for each gene from four ethnicities in the HapMap project on the fly. FESD II employs a Java/JSP web interface for better platform portability and higher speed than PHP in the previous version. As a result, FESD II provides its users with more powerful information about functional element SNPs of human ethnicities.

Evaluation of Single Nucleotide Polymorphisms (SNPs) Genotyped by the Illumina Bovine SNP50K in Cattle Focusing on Hanwoo Breed

  • Dadi, Hailu;Kim, Jong-Joo;Yoon, Du-Hak;Kim, Kwan-Suk
    • Asian-Australasian Journal of Animal Sciences
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    • 제25권1호
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    • pp.28-32
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    • 2012
  • In the present study, we evaluated the informativeness of SNPs genotyped by the Illumina Bovine SNP50K assay in different cattle breeds. To investigate these on a genome-wide scale, we considered 52,678 SNPs spanning the whole autosomal and X chromosomes in cattle. Our study samples consists of six different cattle breeds. Across the breeds approximately 72 and 6% SNPs were found polymorphic and fixed or close to fix in all the breeds, respectively. The variations in the average minor allele frequency (MAF) were significantly different between the breeds studied. The level of average MAF observed in Hanwoo was significantly lower than the other breeds. Hanwoo breed also displayed the lowest number of polymorphic SNPs across all the chromosomes. More importantly, this study indicated that the Bovine SNP50K assay will have reduced power for genome-wide association studies in Hanwoo as compared to other cattle breeds. Overall, the Bovine SNP50K assay described in this study offer a useful genotyping platform for mapping quantitative trait loci (QTLs) in the cattle breeds. The assay data represent a vast and generally untapped resource to assist the investigation of the complex production traits and the development of marker-assisted selection programs.