• Title/Summary/Keyword: Single gene

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Association of a Single Codon Deletion in Bone Morphogenetic Protein 15 Gene with Prolificacy in Small Tail Han Sheep

  • Guo, W.;Chu, M.X.;Deng, X.M.;Feng, J.D.;Li, Ning;Wu, Changxin
    • Asian-Australasian Journal of Animal Sciences
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    • v.17 no.11
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    • pp.1491-1495
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    • 2004
  • Small Tail Han Sheep has significant characteristics of high prolificacy and non-seasonal ovulatory activity and is an excellent local sheep breed in P. R. China. Recently a novel member of the transforming growth factor $\beta$ (TGF$\beta$) superfamily termed bone morphogenetic protein 15 (BMP15) was shown to be specifically expressed in oocytes and to be essential for female fertility. Therefore, BMP15 is a candidate gene for reproductive performance of Small Tail Han Sheep. The whole genomic nucleotide sequence of BMP15 gene in Small Tail Han Sheep was searched for polymorphisms by PCR-SSCP and direct sequencing, and only one polymorphism was found. The polymorphism was a result of a 3 base pair deletion, which eliminated a single Leu codon (CTT). The allelic frequencies for A (without deletion) and B (with a codon deletion) are 0.73 and 0.27 respectively. The effects of BMP15 genotype on litter size were evaluated using the least squares model. This indicated that there was a significant association between litter size of Small Tail Han Sheep and a deletion in BMP15 gene (p=0.02<0.05). Small Tail Han Sheep ewes with AA and AB genotype produce on average 0.5 and 0.3 more lambs per litter than those ewes with BB genotype.

Meta-analysis of Associations between Interleukin-17 Gene Polymorphisms and Risk of Gastric Cancer

  • Yu, Hui;Sun, Si;Liu, Fang;Xu, Qing-Hua
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.20
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    • pp.8709-8713
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    • 2014
  • Background: Previous studies have indicated that single nucleotide polymorphisms (SNPs) of the interleukin-17 (IL-17) gene are associated with an increased risk of gastric cancer. However, the findings were inconsistent. Materials and Methods: To provide a more reliable estimation of the association between SNPs in the IL-17 gene and the susceptibility to gastric cancer, we searched PubMed, CNKI, and Wan Fang databases and selected finally six studies covering 2,366 cases and 3,205 controls to perform a meta-analysis. Results: Statistical analyses showed that an rs2275913 polymorphism within the IL-17A gene was significantly associated with an increased risk of gastric cancer using a generalized odds ratio (ORG, a model-free approach). Moreover, we also found that the 'A' allele carriers of IL-17A rs2275913 had a significant link with clinicopathological features. However, no significant positive signals were observed in the association analysis of the rs3748067 and rs763780 polymorphisms with the risk of gastric cancer in IL-17A and IL-17F, respectively. Conclusions: Despite some limitations, the present meta-analysis provided a more precise estimation of the relationship between the IL-17 gene SNPs and gastric cancer risk compared with individual studies.

Identification of Hanwoo Using 3'-tailed Primer Associated with Single Nucleotide Polymorphism(SNP) in Melanocortin 1 Receptor(MC1R) gene (소 모색관련 MC1R 유전자의 SNP와 관련한 3'-tailed primer를 이용한 한우육의 판별)

  • Kim, T.J.;Park , S.D.;Lee , J. I.
    • Journal of Animal Science and Technology
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    • v.46 no.6
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    • pp.897-902
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    • 2004
  • To improve the methods used for the identification of Hanwoo, we performed a PCR using 3 -tailed primer associated with single nucleotide polymorphism(SNP) in Melanocortin 1 receptor(MCIR) gene. MCIR plays an important role in melanin synthesis and the SNP within MCIR was used as a target for PCRRFLP studies previously. A forward 3 -tailed primer, which matches with the template DNA of Hanwoo but not with others(blackhaired; Holstein and Black angus) at the site of 594th base sequence, and one reverse primer were designed for this study. When use this primer set, a size of 343bp was amplified by PCR only in Hanwoo, not in Holstein and Black angus. This result suggests that the PCR using our 3 -tailed primer would be very accurate, easy, reproducible and economic method to discriminate between Hanwoo meat and other black-haired ones.

Efficacy of Korean Red Ginseng by Single Nucleotide Polymorphism in Obese Women: Randomized, Double-blind, Placebo-controlled Trial

  • Kwon, Dong-Hyun;Bose, Shambhunath;Song, Mi-Young;Lee, Myeong-Jong;Lim, Chi-Yeon;Kwon, Bum-Sun;Kim, Ho-Jun
    • Journal of Ginseng Research
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    • v.36 no.2
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    • pp.176-189
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    • 2012
  • This study examined the effects of Korean red ginseng (KRG) on obese women and aimed to confirm that the effects of KRG on obesity differ dependently on a gene. Fifty obese women were recruited and randomized to receive KRG (n=24) or placebo (n=26) for 8 wk. Measurements of blood pressure, height, weight, waist circumference, waist-hip ratio (WHR), total fat mass, percentage of body fat, resting metabolic rate, basal body temperature, and daily food intake (FI), blood test (serum lipid, liver and renal function), Korean version of obesity-related quality of life scale (KOQOL), and a gene examination were performed. Comparisons of subjects before and after the administration of KRG revealed significant improvements of obesity in terms of weight, body mass index (BMI), WHR, FI, and KOQOL. However, in the comparison between KRG group and placebo group, only KOQOL was significantly different. KRG displayed significant efficacy on BMI and KOQOL in the CT genotype of the G protein beta 3 gene, but not in the CC genotype, on blood sugar test in the Trp64/Arg genotype of the beta 3 adrenergic receptor gene, but not in Trp64/Trp genotype, on KOQOL in the DD genotype of the angiotensin I converting enzyme gene, but not in the ID and DD genotypes. The effects of KRG on obesity were confirmed to some extent. However, a distinct effect compared to placebo was not confirmed. KRG is more effective for improving the secondary issues of the quality of life derived from obesity rather than having direct effects on the obesity-related anthropometric assessment and blood test indices.

Effect of the single nucleotide polymorphism from cytochrome P450 (CYP2A6) gene to fatty acid composition traits in Korean native pig crossed progeny (돼지 Cytochrome P450 (CYP2A6) 유전자 내의 단일염기변이 발굴 및 고기내 불포화 지방산 조성에 미치는 영향)

  • Roh, Jung-Gun;Kim, Sang-Wook;Kim, Kwan-Suk
    • Korean Journal of Agricultural Science
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    • v.38 no.4
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    • pp.689-693
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    • 2011
  • The purpose of this study was to investigate the Cytochrome P450 (CYP2A6) gene as a candidate gene for the traits related with meat fatty acid composition traits in pigs. Porcine CYP2A6 polymorphisms were detected and PCR-RFLP was performed for genotyping of Korean native pig (n=14), Landrace (n=3), Duroc (n=3), Berkshire (n=3), Yorkshire (n=8) and F2 population composed of 202 individuals from an intercross between Korean Native pig and Yorkshire. PCR primer set amplified a 612 bp fragment of CYP2A6 and digestion of the PCR products was performed with the restriction enzymes SchI. The CYP2A6 SchI polymorphism was only found in the KNP breed. The genotype frequencies of TT, TC and CC genotypes were 0.36, 0.56 and 0.08 in the KNP respectively and the other pig breeds were fixed with CC genotype (Duroc, Landrace, Berkshire and Yorkshire). Statistical association between genotypes and fatty acid composition traits were tested in the Korean native pig and Yorkshire crossed F2 pigs. The CYP2A6 SchI polymorphism was associated with only fatty acid composition C20:3n3 level (cis11,14,17-Eicosatrienoic acid, p=0.0252). The 'T' allele was associated with lower C20:3n3 level. Further study is required to validate the genotypic association and biological consequence of the CYP2A6 gene polymorphism in pigs.

Hybrid 'Sinta' Papaya Exhibits Unique ACC Synthase 1 cDNA Isoforms

  • Hidalgo, Marie-Sol P.;Tecson-Mendoza, Evelyn Mae;Laurena, Antonio C.;Botella, Jose Ramon
    • BMB Reports
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    • v.38 no.3
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    • pp.320-327
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    • 2005
  • Five ripening-related ACC synthase cDNA isoforms were cloned from 80% ripe papaya cv. 'Sinta' by reverse transcription-PCR using gene-specific primers. Clone 2 had the longest transcript and contained all common exons and three alternative exons. Clones 3 and 4 contained common exons and one alternative exon each, while clone 1, the most common transcript, contained only the common exons. Clone 5 could be due to cloning artifacts and might not be a unique cDNA fragment. Thus, there are only four isoforms of ACC synthase mRNA. Southern blot analysis indicates that all five clones came from only one gene existing as a single copy in the 'Sinta' papaya genome. Multiple sequence alignment indicates that the four isoforms arise from a single gene, possibly through alternative splicing mechanisms. All the putative alternative exons were present at the 5'-end of the gene comprising the N-terminal region of the protein. 'Sinta' ACC synthase cDNAs were of the capacs 1 type and are most closely related to a 1.4 kb capacs 1-type DNA(AJ277160) from Eksotika papaya. No capacs 2-type cDNAs were cloned from 'Sinta' by RT-PCR. This is the first report of possible alternative splicing mechanism in ripening-related ACC synthase genes in hybrid papaya, possibly to modulate or fine-tune gene expression relevant to fruit ripening.

Major gene identification for FASN gene in Korean cattles by data mining (데이터마이닝을 이용한 한우의 우수 지방산합성효소 유전자 조합 선별)

  • Kim, Byung-Doo;Kim, Hyun-Ji;Lee, Seong-Won;Lee, Jea-Young
    • Journal of the Korean Data and Information Science Society
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    • v.25 no.6
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    • pp.1385-1395
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    • 2014
  • Economic traits of livestock are affected by environmental factors and genetic factors. In addition, it is not affected by one gene, but is affected by interaction of genes. We used a linear regression model in order to adjust environmental factors. And, in order to identify gene-gene interaction effect, we applied data mining techniques such as neural network, logistic regression, CART and C5.0 using five-SNPs (single nucleotide polymorphism) of FASN (fatty acid synthase). We divided total data into training (60%) and testing (40%) data, and applied the model which was designed by training data to testing data. By the comparison of prediction accuracy, C5.0 was identified as the best model. It were selected superior genotype using the decision tree.

Single Nucleotide Polymorph isms of a 16 kb Region on Human Chromosome 11 p15.5 that Includes the H19 Gene

  • Park, Mi-Hyun;Ku, Hyeon-Jeong;Lee, Hye-Ja;Kim, Kwang-Joong;Park, Chan;Oh, Bermseok;Kimm, Ku-Chan;Lee, Jong-Young
    • Genomics & Informatics
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    • v.3 no.3
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    • pp.74-79
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    • 2005
  • The H19 gene, located at human chromosome 11p15.5, is imprinted in most normal human tissues. However, imprinting is often lost in tumors suggesting H19 is a putative tumor suppressor. We analyzed the single nucleotide polymorphisms (SNPs) of a 16 kb region that includes the H19 gene and its imprinting control region (ICR) in the Korean population. To identify SNPs, we directly sequenced this region in 18 Korean subjects. We identified 64 SNPs, of which 7 were in the exons of H19, 2 were in the introns, 14 were in the 3' intergenic region and 41 were in the 5' intergenic region. Of the 64 SNPs, 21 had not previously been reported and thus appear to be unique to the Korean population. The identified SNPs of H19 in the Korean population may eventually be useful as genetic markers associated with various diseases. In this study, 7 of the 64 identified SNPs were at CTCF binding sites in the ICR and may affect regulation of H19 gene imprinting. Thus, several genetic variations of the H19 gene may be important markers in human diseases that involve genomic imprinting, including cancer.

Streptomycetes Inducible Gene Cluster Involved in Aromatic Compound Metabolism

  • Park, Hyeon-Ju;Kim, Eung-Su
    • 한국생물공학회:학술대회논문집
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    • 2003.04a
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    • pp.422-427
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    • 2003
  • Streptomyces setonii (ATCC 39116) is a Gram-positive thermophilic soil actinomycetes capable of degrading single aromatic compounds including phenol and benzoate via ortho-cleavage pathway. we isolated approximately 6.3-kb S. setonii DNA fragment containing a thermophilic catechol 1,2-dioxygenase(C12O) gene. Here we further revealed that the 6.3-kb S. setonii DNA fragment was organized into two putative divergently-transcribed clusters with 6 complete and one incomplete open reading frames (ORFs). The first cluster with 3 ORFs showed significant homologies to previously known benA, benB, and benC, implying a part of benzoate catabolic operon. The second cluster revealed an ortho-cleavage catechol catabolic operon with three translationally-coupled ORFs (catR, catB, catA). Each of these individually-cloned ORFs was expressed in E. coli and identified as a distinct protein band with a theoretical molecular weight in SDS-PAGE. The expression of the cloned S. setonii catechol operon was induced in a heterologous S. lividans by specific single aromatic compounds including catechol, phenol, and 4-chlorophenol. The simitar induction pattern was also observed using a luciferase gene-fused reporter system, implying that S. setonii employs an inducer-specific regulatory mechanism for aromatic compound metabolism.

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Effect of a c-MYC Gene Polymorphism (g.3350G>C) on Meat Quality Traits in Berkshire

  • Oh, J.D.;Kim, E.S.;Lee, H.K.;Song, K.D.
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.11
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    • pp.1545-1550
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    • 2015
  • c-MYC (v-myelocytomatosis viral oncogene homologue) is a transcription factor that plays important role in many biological process including cell growth and differentiation, such as myogenesis and adipogenesis. In this study, we aimed to detect MYC gene polymorphisms, their genotype frequencies and to determine associations between these polymorphisms and meat quality traits in Berkshire pigs. We identified a single nucleotide polymorphism (SNP) in intron 2 of MYC gene by Sanger sequencing, i.e., g.3350G>C (rs321898326), that is only found in Berkshire pigs, but not in other breeds including Duroc, Landrace, and Yorkshire pigs that were used in this study. Genotypes of total 378 Berkshire pigs (138 sows and 240 boars) were determined using Hha I restriction enzyme digestion after polymerase chain reaction. Observed allele frequencies of GG, GC, and CC genotypes were 0.399, 0.508, and 0.093 respectively. Statistical analysis indicated that the g.3350G>C polymorphism was significantly associated with $pH_{45min}$ and cooking loss (p<0.05), suggesting that g.3350G>C SNP can be used for pre-selection of $pH_{45min}$ and cooking loss traits in Berkshire pigs.