• Title/Summary/Keyword: Sequence polymorphisms

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A whole genome sequence association study of muscle fiber traits in a White Duroc×Erhualian F2 resource population

  • Guo, Tianfu;Gao, Jun;Yang, Bin;Yan, Guorong;Xiao, Shijun;Zhang, Zhiyan;Huang, Lusheng
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.5
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    • pp.704-711
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    • 2020
  • Objective: Muscle fiber types, numbers and area are crucial aspects associated with meat production and quality. However, there are few studies of pig muscle fibre traits in terms of the detection power, false discovery rate and confidence interval precision of whole-genome quantitative trait loci (QTL). We had previously performed genome scanning for muscle fibre traits using 183 microsatellites and detected 8 significant QTLs in a White Duroc×Erhualian F2 population. The confidence intervals of these QTLs ranged between 11 and 127 centimorgan (cM), which contained hundreds of genes and hampered the identification of QTLs. A whole-genome sequence imputation of the population was used for fine mapping in this study. Methods: A whole-genome sequences association study was performed in the F2 population. Genotyping was performed for 1,020 individuals (19 F0, 68 F1, and 933 F2). The whole-genome variants were imputed and 21,624,800 single nucleotide polymorphisms (SNPs) were identified and examined for associations to 11 longissimus dorsi muscle fiber traits. Results: A total of 3,201 significant SNPs comprising 7 novel QTLs showing associations with the relative area of fiber type I (I_RA), the fiber number per square centimeter (FN) and the total fiber number (TFN). Moreover, one QTL on pig chromosome 14 was found to affect both FN and TFN. Furthermore, four plausible candidate genes associated with FN (kinase non-catalytic C-lobe domain containing [KNDC1]), TFN (KNDC1), and I_RA (solute carrier family 36 member 4, contactin associated protein like 5, and glutamate metabotropic receptor 8) were identified. Conclusion: An efficient and powerful imputation-based association approach was utilized to identify genes potentially associated with muscle fiber traits. These identified genes and SNPs could be explored to improve meat production and quality via marker-assisted selection in pigs.

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.

Study Gene Interaction Effect Based on Expanded Multifactor Dimensionality Reduction Algorithm (확장된 다중인자 차원축소 (E-MDR) 알고리즘에 기반한 유전자 상호작용 효과 규명)

  • Lee, Jea-Young;Lee, Ho-Guen;Lee, Yong-Won
    • The Korean Journal of Applied Statistics
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    • v.22 no.6
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    • pp.1239-1247
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    • 2009
  • Study the gene about economical characteristic of human disease or domestic animal is a matter of grave interest, preserve and elevation of gene of Korea cattle is key subject. Studies have been done on the gene of Korea cattle using EST based SNP map, but it is based on statistical model, therefore there are difference between real position and statistical position. These problems are solved using both EST_based SNP map and Gene on sequence by Lee et al. (2009b). We have used multifactor dimensionality reduction(MDR) method to study interaction effect of statistical model in general. But MDR method cannot be applied in all cases. It can be applied to the only case-control data. So, method is suggested E-MDR method using CART algorithm. Also we identified interaction effects of single nucleotide polymorphisms(SNPs) responsible for average daily gain(ADG) and marbling score(MS) using E-MDR method.

Analysis of Genetic Polymorphism and Relationship of Korean Ginseng Cultivars and Breeding Lines using EST-SSR Marker (EST-SSR 마커를 이용한 인삼 품종과 육성계통의 유전적 다형성 및 유연관계 분석)

  • Bang, Kyong-Hwan;Seo, A-Yeon;Chung, Jong-Wook;Kim, Young-Chang;Jo, Ick-Hyun;Kim, Jang-Uk;Kim, Dong-Hwi;Cha, Seon-Woo;Cho, Yong-Gu;Kim, Hong-Sig
    • Korean Journal of Medicinal Crop Science
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    • v.20 no.4
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    • pp.277-285
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    • 2012
  • In this study, Expressed Sequence Tag-Simple Sequence Repeat (EST-SSR) analyses were used to clarify the genetic polymorphisms among Korean ginseng cultivars and breeding lines and to classify them into distinct genetic groups. Polymorphic and reproducible bands were produced by 14 primers out of total 30 primers used in this study. Fourteen EST-SSR loci generated a total of 123 bands. Amplified PCR products showed the highly reproducible banding patterns at 110~920 bp. The number of amplified bands for each EST-SSR primers ranged from 2 to 19 with a mean of 8.8 bands. P26 and P35 primers showed 13 and 12 banding patterns, respectively. The number of alleles for each EST-SSR locus ranged from 1.67 to 2.00 with a mean of 1.878 alleles. P34 and P60 primers showed the highest and the lowest genetic polymorphism, respectively. Cluster analysis based on genetic similarity estimated by EST-SSR markers classified Korean cultivars and breeding lines into 4 groups. Group included Gopoong and Chunpoong and 9 breeding lines (55%), group included 2 breeding lines (10%), group included 3 breeding lines (15%), group included Gumpoong and 3 breeding lines (20%). Consequently, the EST-SSR marker developed in this study may prove useful for the evaluation of genetic diversity and differentiation of Korean ginseng cultivars and breeding lines.

Practical application of the Bar-HRM technology for utilization with the differentiation of the origin of specific medicinal plant species (약용식물의 기원 판별을 위한 Bar-HRM 분석기술의 응용)

  • Kim, Yun-Hee;Shin, Yong-Wook;Lee, Shin-Woo
    • Journal of Plant Biotechnology
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    • v.45 no.1
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    • pp.9-16
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    • 2018
  • The advent of available DNA barcoding technology has been extensively adopted to assist in the reference to differentiate the origin of various medicinal plants species. However, this technology is still far behind the curve of technological advances to be applied in a practical manner in the market to authenticate the counterfeit components or detect the contamination in the admixtures of medicinal plant species. Recently, a high resolution melting curve analysis technique was combined with the procedure of DNA barcoding (Bar-HRM) to accomplish this purpose. In this review, we tried to summarize the current development and bottleneck of processing related to the Bar-HRM technology for the practical application of medicinal plant species' differentiation in a viable global market. Although several successful results have been reported, there are still many obstacles to be resolved, such as limited number of DNA barcodes and single nucleotide polymorphisms, in particular, only one DNA barcode, internal transcribed sequence (ITS) of ribosomal DNA has been reported in the available nuclear genome. In addition, too few cases have been reported about the identification of counterfeit or contamination with processed medicinal plant products, in particular specifically the case of technology based infusion, jam and jelly products and components in which it is noted that DNA can be thereby degraded during the processing of these products and components.

Analysis of SNPs in Bovine CSRP3, APOBEC2 and Caveolin Gene Family (소의 CSRP3, APOBEC2, Caveolin 유전자들의 단일염기다형 분석)

  • Bhuiyan, M.S.A.;Yu, S.L.;Kim, K.S.;Yoon, D.;Park, E.W.;Jeon, J.T.;Lee, J.H.
    • Journal of Animal Science and Technology
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    • v.49 no.6
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    • pp.719-728
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    • 2007
  • The cysteine and glycine rich protein 3 (CSRP3), apolipoprotein B mRNA editing enzyme catalytic polypeptide‐like 2(APOBEC2) and caveolin (CAV) gene family(CAV1, CAV2, CAV3) have been reported to play important roles for carcass and meat quality traits in pig, mouse, human and cattle. As an initial step, we investigated SNPs in these 5 genes among eight different cattle breeds. Eighteen primer pairs were designed from bovine sequence data of NCBI database to amplify the partial gene fragments. Sequencing results revealed 9 SNPs in the coding regions of three caveolin genes, 1 SNP in CSRP3 and 3 SNPs in APOBEC2 gene. All the identified SNPs were confirmed by PCR-RFLP. Also, 9 more intronic SNPs were detected in these genes. However, all identified mutations in the coding region do not change amino acid sequence. Allelic distributions were significantly different for 5 SNPs in CAV2, CAV3, CSRP3 and APOBEC2 genes among the eight different breeds. These results gave some clues about the polymorphisms of these genes among the cattle breeds and will be useful for further searches for identifying association between these SNPs and meat quality traits in cattle.

Whole-Genome Resequencing Analysis of Hanwoo and Yanbian Cattle to Identify Genome-Wide SNPs and Signatures of Selection

  • Choi, Jung-Woo;Choi, Bong-Hwan;Lee, Seung-Hwan;Lee, Seung-Soo;Kim, Hyeong-Cheol;Yu, Dayeong;Chung, Won-Hyong;Lee, Kyung-Tai;Chai, Han-Ha;Cho, Yong-Min;Lim, Dajeong
    • Molecules and Cells
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    • v.38 no.5
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    • pp.466-473
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    • 2015
  • Over the last 30 years, Hanwoo has been selectively bred to improve economically important traits. Hanwoo is currently the representative Korean native beef cattle breed, and it is believed that it shared an ancestor with a Chinese breed, Yanbian cattle, until the last century. However, these two breeds have experienced different selection pressures during recent decades. Here, we whole-genome sequenced 10 animals each of Hanwoo and Yanbian cattle (20 total) using the Illumina HiSeq 2000 sequencer. A total of approximately 3.12 and 3.07 billion sequence reads were mapped to the bovine reference sequence assembly (UMD 3.1) at an average of approximately 10.71- and 10.53-fold coverage for Hanwoo and Yanbian cattle, respectively. A total of 17,936,399 single nucleotide polymorphisms (SNPs) were yielded, of which 22.3% were found to be novel. By annotating the SNPs, we further retrieved numerous nonsynonymous SNPs that may be associated with traits of interest in cattle. Furthermore, we performed whole-genome screening to detect signatures of selection throughout the genome. We located several promising selective sweeps that are potentially responsible for economically important traits in cattle; the PPP1R12A gene is an example of a gene that potentially affects intramuscular fat content. These discoveries provide valuable genomic information regarding potential genomic markers that could predict traits of interest for breeding programs of these cattle breeds.

Effect of RFLP Marker of the Mitochondrial DNA D-Loop Region on Milk Production in Korean Cattle (한우 Mitochondrial DNA D-Loop 영역의 RFLP Marker가 산유량에 미치는 영향)

  • Chung Eui-Ryong;Chung Ku-Young
    • Food Science of Animal Resources
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    • v.25 no.2
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    • pp.218-225
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    • 2005
  • This study was performed to determine sequence variation and RFLP of the mt DNA D-loop region using Southern blot hybridization analysis and to develop mt DNA marker affecting milk production traits in Hanwoo cows. The PCR was used to amplify an 1142 bp fragment within the D-loop region of mt DNA using specific primers. Mt DNA were digested with seven restriction enzymes and hybridized using DIG-labeled D-loop probe. The mt DNA RFLP polymorphisms were observed in the four enzymes, BamHI, RsaI, XbaI and HpaII. Nucleotide substitutions were detected at positions 441 (G/C), 469 (T/C), 503 (C/T), 569 (G/A), 614 (C/A) and 644 (C/T) of the mt DNA D-loop region between two selected lines. Significant relationship between the XbaI RFLP type and breeding value was found(p<0.05). Cows with A type had higher estimated breeding values than those with B type (P<0.05) between high and low milk production lines. Therefore, the RFLP marker of mt DNA could be used as a selection assisted tool for individuals with high milk producing ability in Hanwoo.

Comparative Genetic Characteristics of Korean Ginseng using DNA Markers (분자지표를 이용한 고려인삼의 유전적 특성 비교)

  • Shin, Mi Ran;Jo, Ick Hyun;Chung, Jong Wook;Kim, Young Chang;Lee, Seung Ho;Kim, Jang Uk;Hyun, Dong Yun;Kim, Dong Hwi;Kim, Kee Hong;Moon, Ji Young;Noh, Bong Soo;Kang, Sung Taek;Lee, Dong Jin;Bang, Kyong Hwan
    • Korean Journal of Medicinal Crop Science
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    • v.21 no.6
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    • pp.444-454
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    • 2013
  • The development of random amplified polymorphic DNA (RAPD) and expressed sequence tag-derived simple sequence repeats (EST-SSRs) provided a useful tool for investigating Korean ginseng genetic diversity. In this study, 18 polymorphic markers (7 RAPD and 11 EST-SSR) selected to assess the genetic diversity in 31 ginseng accessions (11 Korean ginseng cultivars and 20 breeding lines). In RAPD analysis, a total of 53 unique polymorphic bands were obtained from ginseng accessions and number of amplicons ranged from 4 to 11 with a mean of 7.5 bands. Pair-wise genetic similarity coefficient (Nei) among all pairs of ginseng accessions varied from 0.01 to 0.32, with a mean of 0.11. On the basis of the resulting data, the 31 ginseng accessions were grouped into six clusters. As a result of EST-SSR analysis, 11 EST-SSR markers detected polymorphisms among the 31 ginseng accessions and revealed 49 alleles with a mean of 4.45 alleles per primer. The polymorphism information content (PIC) value ranged from 0.06 to 0.31, with an average of 0.198. The 31 ginseng accessions were classified into five groups by cluster analysis based on Nei's genetic distances. Consequently, the results of ginseng-specific RAPD and EST-SSR markers may prove useful for the evaluation of genetic diversity and discrimination of Korean ginseng cultivars and breeding lines.

Comprehensive comparative analysis of chloroplast genomes from seven Panax species and development of an authentication system based on species-unique single nucleotide polymorphism markers

  • Nguyen, Van Binh;Giang, Vo Ngoc Linh;Waminal, Nomar Espinosa;Park, Hyun-Seung;Kim, Nam-Hoon;Jang, Woojong;Lee, Junki;Yang, Tae-Jin
    • Journal of Ginseng Research
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    • v.44 no.1
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    • pp.135-144
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    • 2020
  • Background: Panax species are important herbal medicinal plants in the Araliaceae family. Recently, we reported the complete chloroplast genomes and 45S nuclear ribosomal DNA sequences from seven Panax species, two (P. quinquefolius and P. trifolius) from North America and five (P. ginseng, P. notoginseng, P. japonicus, P. vietnamensis, and P. stipuleanatus) from Asia. Methods: We conducted phylogenetic analysis of these chloroplast sequences with 12 other Araliaceae species and comprehensive comparative analysis among the seven Panax whole chloroplast genomes. Results: We identified 1,128 single nucleotide polymorphisms (SNP) in coding gene sequences, distributed among 72 of the 79 protein-coding genes in the chloroplast genomes of the seven Panax species. The other seven genes (including psaJ, psbN, rpl23, psbF, psbL, rps18, and rps7) were identical among the Panax species. We also discovered that 12 large chloroplast genome fragments were transferred into the mitochondrial genome based on sharing of more than 90% sequence similarity. The total size of transferred fragments was 60,331 bp, corresponding to approximately 38.6% of chloroplast genome. We developed 18 SNP markers from the chloroplast genic coding sequence regions that were not similar to regions in the mitochondrial genome. These markers included two or three species-specific markers for each species and can be used to authenticate all the seven Panax species from the others. Conclusion: The comparative analysis of chloroplast genomes from seven Panax species elucidated their genetic diversity and evolutionary relationships, and 18 species-specific markers were able to discriminate among these species, thereby furthering efforts to protect the ginseng industry from economically motivated adulteration.