• Title/Summary/Keyword: single nucleotide polymorphisms marker

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Association analysis of polymorphisms of G protein-coupled receptor 54 gene exons with reproductive traits in Jiaxing Black sows

  • Wu, Fen;Zhang, Wei;Song, Qian-Qian;Li, Hai-Hong;Xu, Ming-Shu;Liu, Guo-Liang;Zhang, Jin-Zhi
    • Asian-Australasian Journal of Animal Sciences
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    • v.32 no.8
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    • pp.1104-1111
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    • 2019
  • Objective: The aim of this study was to detect single nucleotide polymorphisms (SNP) of G protein-coupled receptor 54 (GPR54) gene and explore association of this candidate gene with reproductive traits in Jiaxing Black sows. Methods: Six pairs of primers of the gene were designed to amplify all exons thus sequences of which were detected by means of direct sequencing and then SNP loci were scanned. The effects of SNPs on total number of piglets born (TNB), number of piglets born alive (NBA), number of still born piglets (NSB), and litter weight at birth (LWB) of Jiaxing Black sows were analyzed. Results: Three SNP loci, including T3739C, C3878T and T6789C, were identified via comparison of sequencing and two genotypes (AB, BB) at each SNP site were observed. T3739C resulted in the change of amino acid ($Leu{\rightarrow}Pro$) in corresponding protein, and C3878T resulted in synonymous mutation ($Ile{\rightarrow}Ile$). Statistical results demonstrated that allele B was the preponderant allele at the three SNP loci and Genotype BB was the preponderant genotype. Meanwhile, Chi-Square test of these three SNPs indicated that all mutation sites fitted in Hardy-Weinberg equilibrium (p>0.05). For GPR54-T3739C locus, Jiaxing Black sows with genotype BB had 1.23 TNB and 1.28 NBA (p<0.01) that were more than those with genotype AB, respectively. Jiaxing Black sows that had the first two parities with genotype BB had additional 2.23 TNB, 2.27 NBA (p<0.01), and 1.94 LWB (p<0.05) compared to those with genotype AB, respectively. However, for other two loci, no significant difference was found between TNB, NBA, NSB, and LWB, and different genotypes of Jiaxing Black sows. Conclusion: In conclusion, the polymorphisms of GPR54-T3739C locus were significantly associated to TNB, NBA, and LWB and could be used as a potential genetic marker to improve reproductive function of Jiaxing black sows.

Restricted partition method and gene-gene interaction analysis with Hanwoo economic traits (제한된 분할방법과 한우 경제형질에서 유전자들간의 상호작용)

  • Lee, Jea-Young;Kim, Dong-Chul
    • Journal of the Korean Data and Information Science Society
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    • v.20 no.1
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    • pp.171-178
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    • 2009
  • In order to make the high quality Korean cattle, it has been identified the gene which influence to various economic characters. In this paper, we introduce Restricted Partition Method for gene-gene interaction analysis. Further, economic traits, longissimus muscle dorsi area (LMA), carcass cold weight (CWT) and average daily gain (ADG) are applied with Restricted Partition Method (RPM). The SNP (19_1)$^*$SNP (28_2) was selected and was best marker on Single nucleotide polymorphisms (SNPs). It also influenced SNP (19_1)$^*$SNP (28_2) was an very important marker for economic character and to make the thing know it became.

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Discrimination of Korean Agaricus bisporus cultivars using CAPS markers (CAPS 마커를 이용한 국내 개발 양송이 품종 구분)

  • Lee, Hwa-Yong;An, Hyejin;Oh, Youn-Lee;Jang, Kab-Yeul;Chung, Jong-Wook
    • Journal of Mushroom
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    • v.19 no.4
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    • pp.336-340
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    • 2021
  • The cleaved amplified polymorphic sequence (CAPS) marker uses a restriction enzyme recognition site resulting from single nucleotide polymorphisms and insertions and deletions on the DNA sequence. This technique does not require expensive equipment, the process is simple, and clear results can be obtained reliably. In this study, Agaricus bisporus cultivars SaeA, SaeDo, SaeHan, SaeYeon, SaeJeong, Dodam, Seolgang, Dahyang, Hogam, and Hadam developed in Korea were discriminated using four CAPS markers. Our results indicated that it is possible to distinguish the ten cultivars and determine the genetic diversity among them.

Joint Identification of Multiple Genetic Variants of Obesity in a Korean Genome-wide Association Study

  • Oh, So-Hee;Cho, Seo-Ae;Park, Tae-Sung
    • Genomics & Informatics
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    • v.8 no.3
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    • pp.142-149
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    • 2010
  • In recent years, genome-wide association (GWA) studies have successfully led to many discoveries of genetic variants affecting common complex traits, including height, blood pressure, and diabetes. Although GWA studies have made much progress in finding single nucleotide polymorphisms (SNPs) associated with many complex traits, such SNPs have been shown to explain only a very small proportion of the underlying genetic variance of complex traits. This is partly due to that fact that most current GWA studies have relied on single-marker approaches that identify single genetic factors individually and have limitations in considering the joint effects of multiple genetic factors on complex traits. Joint identification of multiple genetic factors would be more powerful and provide a better prediction of complex traits, since it utilizes combined information across variants. Recently, a new statistical method for joint identification of genetic variants for common complex traits via the elastic-net regularization method was proposed. In this study, we applied this joint identification approach to a large-scale GWA dataset (i.e., 8842 samples and 327,872 SNPs) in order to identify genetic variants of obesity for the Korean population. In addition, in order to test for the biological significance of the jointly identified SNPs, gene ontology and pathway enrichment analyses were further conducted.

Novel Nucleotide Variations, Haplotypes Structure and Associations with Growth Related Traits of Goat AT Motif-Binding Factor (ATBF1) Gene

  • Zhang, Xiaoyan;Wu, Xianfeng;Jia, Wenchao;Pan, Chuanying;Li, Xiangcheng;Lei, Chuzhao;Chen, Hong;Lan, Xianyong
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.10
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    • pp.1394-1406
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    • 2015
  • The AT motif-binding factor (ATBF1) not only interacts with protein inhibitor of activated signal transducer and activator of transcription 3 (STAT3) (PIAS3) to suppress STAT3 signaling regulating embryo early development and cell differentiation, but is required for early activation of the pituitary specific transcription factor 1 (Pit1) gene (also known as POU1F1) critically affecting mammalian growth and development. The goal of this study was to detect novel nucleotide variations and haplotypes structure of the ATBF1 gene, as well as to test their associations with growth-related traits in goats. Herein, a total of seven novel single nucleotide polymorphisms (SNPs) (SNP 1-7) within this gene were found in two well-known Chinese native goat breeds. Haplotypes structure analysis demonstrated that there were four haplotypes in Hainan black goat while seventeen haplotypes in Xinong Saanen dairy goat, and both breeds only shared one haplotype (hap1). Association testing revealed that the SNP2, SNP5, SNP6, and SNP7 loci were also found to significantly associate with growth-related traits in goats, respectively. Moreover, one diplotype in Xinong Saanen dairy goats significantly linked to growth related traits. These preliminary findings not only would extend the spectrum of genetic variations of the goat ATBF1 gene, but also would contribute to implementing marker-assisted selection in genetics and breeding in goats.

SNP Detection of Carboxypeptidase E Gene and Its Association with Meat Quality and Carcass Traits in Korean Cattle

  • Shin, S.C.;Chung, E.R.
    • Asian-Australasian Journal of Animal Sciences
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    • v.20 no.3
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    • pp.328-333
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    • 2007
  • Carboxypeptidase E (CPE) plays an important role in the regulation of the body fat content. Therefore, it has been suggested as candidate gene for traits related to meat quality in beef cattle. This study was conducted to identify single nucleotide polymorphisms (SNPs) in the CPE gene and to investigate association of SNP marker with carcass and meat quality traits in Korean cattle. Three SNPs were identified in the intron 4 (A309G SNP and C445T SNP) and exon 5 (C601T SNP) of the CPE gene by sequence analyses of CPE cDNA and genomic DNA samples. The sequences have been deposited in GenBank database with accession numbers AY970664 and AY970663. Genotyping of the gene-specific SNP marker was carried out using the PCR-RFLP with restriction enzymes DdeI for C445T SNP and NlaIII for C601T SNP. The frequencies of C and T alleles were 0.43 and 0.57 for C445T SNP and 0.42 and 0.58 for C601T SNP, respectively. Statistical analysis indicated that the C445T SNP showed a significant effect (p<0.05) on marbling score (MS) and breeding value of backfat thickness (BF-EBV), respectively. Animals with the CT genotype showed higher marbling score and backfat thickness than those with the TT genotype. This marker also showed a significant dominance effect for the MS and BF-EBV (p<0.05). However, no significant associations were observed between C601T SNP genotypes and all traits examined. The results suggest that the CPE gene may be used as a marker for carcass traits in Korean cattle.

A Novel Single Nucleotide Polymorphism of the Leptin Receptor Gene Associated with Backfat Thickness in Duroc Pigs (두록 돼지의 등지방두께와 연관된 렙틴수용체 유전자의 신규 SNP 마커)

  • Lee, Kyung-Tai;Lee, Hae-Young;Choi, Bong-Hwan;Kim, Jong-Joo;Kim, Tae-Hun
    • Journal of Life Science
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    • v.26 no.1
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    • pp.1-7
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    • 2016
  • Fatness is one of the most important economic traits in pigs. The leptin receptor (LEPR) gene may be a potential candidate for the fatness quantitative trait locus (QTL) on porcine chromosome 6, due to its position and physiological role. Thus, this study was carried out to evaluate the associations between structural variants in the LEPR gene and economic traits in pigs. We obtained an approximately 114-kb sequence containing the complete genomic DNA of the porcine LEPR gene, using shotgun sequencing of a bacterial artificial chromosome clone. We report the complete genomic structure of the porcine LEPR gene. Dozens of transcription factor-binding sites were found in the 1.2 kb upstream region from the transcription start point. An association study was performed with 550 Duroc pigs for 24 single-nucleotide polymorphisms (SNPs), including 6 SNPs within exons and 18 SNPs within the putative 5‘ regulatory region of the porcine LEPR gene. Among them, one SNP (−790C/G) was significantly associated with backfat thickness and lean meat percentage, whereas the others, including two SNPs with missense polymorphisms, had no effect on any phenotype. These results suggest that SNP −790C/G may be a useful marker for genetic improvements of fatness and leanness in Duroc pigs.

Analysis of Carcass Characteristics in the 3rd Intron of Pig POU1F1 Gene (돼지의 POU1F1 Intron 3영역 유전자에 따른 도체특성 분석)

  • Kim, Gye-Woong;Yoo, Jae-Young
    • Journal of Animal Science and Technology
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    • v.51 no.4
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    • pp.283-288
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    • 2009
  • This study was carried out to compare Msp I polymorphisms in the 3rd intron of porcine gene encoding the pituitary-1 transcription factor (POU1F1) from 286 pigs (Landrace $\times$ Yorkshire $\times$ Duroc, LYD) and to determine the associations between its genotypes and carcass traits by using the PCR-RFLP technique. The frequency of the single nucleotide polymorphism (SNP) genotype DD (84.33%) was very higher than that of CC genotype (0.75%). Allelic frequencies for C and D were 0.082 and 0.918, respectively. Each population followed the Hardy-Weinberg equilibrium. Meat colours of Hunter $L^*$ values and visual colour according to two genotypes were all significantly different. However, no significant difference in crossbred (LYD) was found between CD and DD genotypes for other traits. Therefore, this suggests that POU1F1 may be a major gene or marker for carcass traits.

Pathway enrichment and protein interaction network analysis for milk yield, fat yield and age at first calving in a Thai multibreed dairy population

  • Laodim, Thawee;Elzo, Mauricio A.;Koonawootrittriron, Skorn;Suwanasopee, Thanathip;Jattawa, Danai
    • Asian-Australasian Journal of Animal Sciences
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    • v.32 no.4
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    • pp.508-518
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    • 2019
  • Objective: This research aimed to determine biological pathways and protein-protein interaction (PPI) networks for 305-d milk yield (MY), 305-d fat yield (FY), and age at first calving (AFC) in the Thai multibreed dairy population. Methods: Genotypic information contained 75,776 imputed and actual single nucleotide polymorphisms (SNP) from 2,661 animals. Single-step genomic best linear unbiased predictions were utilized to estimate SNP genetic variances for MY, FY, and AFC. Fixed effects included herd-year-season, breed regression and heterosis regression effects. Random effects were animal additive genetic and residual. Individual SNP explaining at least 0.001% of the genetic variance for each trait were used to identify nearby genes in the National Center for Biotechnology Information database. Pathway enrichment analysis was performed. The PPI of genes were identified and visualized of the PPI network. Results: Identified genes were involved in 16 enriched pathways related to MY, FY, and AFC. Most genes had two or more connections with other genes in the PPI network. Genes associated with MY, FY, and AFC based on the biological pathways and PPI were primarily involved in cellular processes. The percent of the genetic variance explained by genes in enriched pathways (303) was 2.63% for MY, 2.59% for FY, and 2.49% for AFC. Genes in the PPI network (265) explained 2.28% of the genetic variance for MY, 2.26% for FY, and 2.12% for AFC. Conclusion: These sets of SNP associated with genes in the set enriched pathways and the PPI network could be used as genomic selection targets in the Thai multibreed dairy population. This study should be continued both in this and other populations subject to a variety of environmental conditions because predicted SNP values will likely differ across populations subject to different environmental conditions and changes over time.

Association of Single Nucleotide Polymorphisms in Exon 6 Region of BMPRIB Gene with Litter Size Traits in Sheep

  • Jia, Cunling;Li, Ning;Zhao, Xingbo;Zhu, Xiaoping;Jia, Zhihai
    • Asian-Australasian Journal of Animal Sciences
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    • v.18 no.10
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    • pp.1375-1378
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    • 2005
  • The objective of this study was to investigate polymorphisms of BMPRIB (bone morphogenetic protein type IB receptor) gene and its effect on litter size traits in sheep. Three populations including 101 Small Tailed Han sheep, 79 Poll Dorset and 81 hybrids (Poll Dorset${\times}$Small Tailed Han sheep) were used to detect the polymorphisms in exon 6 region of sheep BMPRIB gene. A fragment of approximately 190bp was amplified by one pair of primers, the polymorphism was revealed from the analysis of three populations by the technique of PCR -SSCP, and a mutation from A to G at 746 of the coding region was confirmed by sequencing in several individual. Statistical results indicated the distribution of allele B (with a A$\longrightarrow$G mutation) and A (without mutation) or genotype AA, AB and BB frequencies differed in three populations. BB genotype (44.55%) and B allele (66.34%) frequencies of Small Tailed Han sheep were higher than those of the others. Analysis of variance showed that the polymorphism of BMPRIB gene was associated with positive effect on litter size traits. The means of genotype BB and AB were about 1.04 and 0.74 more than genotype AA for litter size (p<0.05). Analysis of BMPRIB genotype effects on litter size in three populations indicates the existence of genotype BB or B allele increases the litter size. It suggested that the polymorphism in exon 6 (at 746 in the coding region) of sheep BMPRIB gene may be used as a marker for early selection of prolificacy in sheep.