• Title/Summary/Keyword: Protein polymorphism

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Development of Optimal Breeding Pigs Using DNA Marker Information

  • Kim, Sang-Wook;Roh, Jung-Gun;Cho, Yang-Il;Choi, Bong-Hwan;Kim, Tae-Hun;Kim, Jong-Joo;Kim, Kwan-Suk
    • Genomics & Informatics
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    • v.8 no.2
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    • pp.81-85
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    • 2010
  • The aim of the study was to investigate pig reference families, generated from Korean native pigs (KNP) that were crossed with Yorkshire (YS) breeds, which were used to evaluate genetic markers to select breeding animals with superior pork quality. A set of five candidate genes (PRKAG3, MC4R, CAST, ESR, and PRLR ) was analyzed for association with pork quality traits. PRKAG3 (I199V) SNP genotypes were significantly associated with muscle moisture, protein, and fat contents. The MC4R D298N polymorphism was significantly associated with meat tenderness and color traits. The CAST polymorphism was significantly associated with muscle moisture and crude protein traits. These three genes have been associated with pork quality traits in other pig populations, and some of our results are consistent with earlier studies. In addition, two reproductive candidate genes (ESR and PRLR ) did not have significant associations. These results suggest that further study is warranted to investigate and develop more DNA markers associated with pork quality in our KNP-crossed pig families.

Mechanism of amyloidogenesis: nucleation-dependent fibrillation versus double-concerted fibrillation

  • Bhak, Ghi-Bom;Choe, Young-Jun;Paik, Seung-R.
    • BMB Reports
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    • v.42 no.9
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    • pp.541-551
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    • 2009
  • Amyloidogenesis defines a condition in which a soluble and innocuous protein turns to insoluble protein aggregates known as amyloid fibrils. This protein suprastructure derived via chemically specific molecular self-assembly process has been commonly observed in various neurodegenerative disorders such as Alzheimer's, Parkinson's, and Prion diseases. Although the major culprit for the cellular degeneration in the diseases remains unsettled, amyloidogenesis is considered to be etiologically involved. Recent recognition of fibrillar polymorphism observed mostly from in vitro amyloidogeneses may indicate that multiple mechanisms for the amyloid fibril formation would be operated. Nucleation-dependent fibrillation is the prevalent model for assessing the self-assembly process. Following thermodynamically unfavorable seed formation, monomeric polypeptides bind to the seeds by exerting structural adjustments to the template, which leads to accelerated amyloid fibril formation. In this review, we propose another in vitro model of amyloidogenesis named double-concerted fibrillation. Here, two consecutive assembly processes of monomers and subsequent oligomeric species are responsible for the amyloid fibril formation of $\alpha$-synuclein, a pathological component of Parkinson's disease, following structural rearrangement within the oligomers which then act as a growing unit for the fibrillation.

Polymorphism Analysis and Expression of the CCAAT/Enhancer Binding Protein β(C/EBPβ) in the Korean Native Cattle and Black Cattle Storage (한우와 흑한우 CCAAT/Enhancer Binding Protein β(C/EBPβ) 유전자의 발현과 다형분석)

  • Kim, Hey-Min;Lee, Sang-Mi;Pack, Hyo-Young;Yoon, Seul-Ki;Yoon, Du-Hak;Lee, Seung-Soo;Ko, Moon-Suck;Moon, Seung-Ju;Kang, Man-Jong
    • Journal of Animal Science and Technology
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    • v.50 no.2
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    • pp.265-272
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    • 2008
  • The CCAAT/enhancer binding protein β(C/EBPβ), a member of the leucine zipper DNA-binding protein of transcription factor, plays a crucial role in the control of early phases of adipocyte differentiation. In this studies, we report the identification, characterization, and expression of the Korean native cattle C/EBPβ gene. The Korean native cattle and black cattle C/EBPβ cDNA includes a 1047bp open reading frame encoding a protein of 348 amino acids. The C/EBPβ cDNA sequence of the Korean native cattle and black cattle shows high conservation with the corresponding amino acid sequences reported in other species. The distribution of C/EBPβ mRNA in various tissues of Korean native cattle aged 26 months was investigated using Northern Blot analysis. The C/EBPβ expression was detected in adipose tissue, lung, sirloin while expression was not detected in heart, kidney, small intestine, colon, and liver. However, we are analyzed polymorphism of bZIP domain in the C/EBPβ gene. A polymorphism was not identified at this position.

Polymorphisms and expression levels of TNP2, SYCP3, and AZFa genes in patients with azoospermia

  • Mohammad Ismael Ibrahim Jebur;Narges Dastmalchi;Parisa Banamolaei;Reza Safaralizadeh
    • Clinical and Experimental Reproductive Medicine
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    • v.50 no.4
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    • pp.253-261
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    • 2023
  • Objective: Azoospermia (the total absence of sperm in the ejaculate) affects approximately 10% of infertile males. Despite diagnostic advances, azoospermia remains the most challenging issue associated with infertility treatment. Our study evaluated transition nuclear protein 2 (TNP2) and synaptonemal complex protein 3 (SYCP3) polymorphisms, azoospermia factor a (AZFa) microdeletion, and gene expression levels in 100 patients with azoospermia. Methods: We investigated a TNP2 single-nucleotide polymorphism through polymerase chain reaction (PCR) restriction fragment length polymorphism analysis using a particular endonuclease. An allele-specific PCR assay for SYCP3 was performed utilizing two forward primers and a common reverse primer in two PCR reactions. Based on the European Academy of Andrology guidelines, AZFa microdeletions were evaluated by multiplex PCR. TNP2, SYCP3, and the AZFa region main gene (DEAD-box helicase 3 and Y-linked [DDX3Y]) expression levels were assessed via quantitative PCR, and receiver operating characteristic curve analysis was used to determine the diagnostic capability of these genes. Results: The TNP2 genotyping and allelic frequency in infertile males did not differ significantly from fertile volunteers. In participants with azoospermia, the allelic frequency of the SYCP3 mutant allele (C allele) was significantly altered. Deletion of sY84 and sY86 was discovered in patients with azoospermia and oligozoospermia. Moreover, SYCP3 and DDX3Y showed decreased expression levels in the azoospermia group, and they exhibited potential as biomarkers for diagnosing azoospermia (area under the curve, 0.722 and 0.720, respectively). Conclusion: These results suggest that reduced SYCP3 and DDX3Y mRNA expression profiles in testicular tissue are associated with a higher likelihood of retrieving spermatozoa in individuals with azoospermia. The homozygous genotype TT of the SYCP3 polymorphism was significantly associated with azoospermia.

Relationship between SNP A and P1763 Polymorphisms on Dystrobrevin Binding Protein 1(DTNBP1) Gene and Smooth Pursuit Eye Movement(SPEM) Abnormality in Korean Schizophrenic Patients (한국인 정신분열병 환자의 안구추적운동 이상과 Dystrobrevin Binding Protein 1(DTNBP1) 유전자의 SNP A와 P1763 다형성의 연합에 대한 연구)

  • Lee, Chang Hee;Park, Byung-Lae;Kim, Lyoung Hyo;Kim, Dong Hyeon;Cho, Sook Hyun;Park, Jin-Soo;Kim, Im-Yel;Lee, In-Sang;Seo, Han-Gil;Byun, Ki-Ook;Kim, Bong-Jo;Hahn, Kyu-Hee;Kim, Ki-Hoon;Shin, Tae-Min;Shin, Hyung Doo;Woo, Sung-Il
    • Korean Journal of Biological Psychiatry
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    • v.13 no.4
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    • pp.279-288
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    • 2006
  • Objectives : We investigated the association of SNP A and P1763 polymorphisms on dystrobrevin binding protein 1(DTNBP1) gene with smooth pursuit eye movement(SPEM) abnormality in Korean schizophrenic patients. Methods : We measured SPEM function in 217 Korean schizophrenics(male 116, female 101) and divided them into two groups, one is a good SPEM function group and the other is a poor SPEM function group. We then analyzed SNP A polymorphism and P1763 polymorphism on DTNBP1 gene from their DNAs extracted from their blood. We compared the differences of genotype and allele distributions of the two polymorphisms on DTNBP1 gene between the two groups. Results : The Ln S/N ratio(mean${\pm}$SD) of the good SPEM function group was $4.39{\pm}0.33$ and the ratio of poor SPEM function group was $3.17{\pm}0.71$. There were no statistically significant differences of age and male/female ratio between the two groups. There were no significant differences of genotype or allele distributions of the SNP A polymorphism and P1763 polymorphism on DTNBP1 gene between the two schizophrenic groups divided by SPEM function. Conclusion : The results suggest that SNP A polymorphism and P1763 polymorphism on DTNBP1 gene might not be related to SPEM function abnormality in schizophrenia.

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Polymorphism, Expression of Natural Resistance-associated Macrophage Protein 1 Encoding Gene (NRAMP1) and Its Association with Immune Traits in Pigs

  • Ding, Xiaoling;Zhang, Xiaodong;Yang, Yong;Ding, Yueyun;Xue, Weiwei;Meng, Yun;Zhu, Weihua;Yin, Zongjun
    • Asian-Australasian Journal of Animal Sciences
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    • v.27 no.8
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    • pp.1189-1195
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    • 2014
  • Natural resistance-associated macrophage protein 1 encoding gene (NRAMP1) plays an important role in immune response against intracellular pathogens. To evaluate the effects of NRAMP1 gene on immune capacity in pigs, tissue expression of NRAMP1 mRNA was observed by real time quantitative polymerase chain reaction (PCR), and the results revealed NRAMP1 expressed widely in nine tissues. One single nucleotide polymorphism (SNP) (ENSSSCG00000025058: g.130 C>T) in exon1 and one SNP (ENSSSCG00000025058: g.657 A>G) in intron1 region of porcine NRAMP1 gene were demonstrated by DNA sequencing and PCR-RFLP analysis. A further analysis of SNP genotypes associated with immune traits including contain of white blood cell (WBC), granulocyte, lymphocyte, monocyte (MO), rate of cytotoxin in monocyte (MC) and $CD4^-CD8^+$ T lymphocyte subpopulations in blood was carried out in four pig populations including Large White and three Chinese indigenous breeds (Wannan Black, Huai pig and Wei pig). The results showed that the SNP (ENSSSCG00000025058: g.130 C>T) was significantly associated with level of WBC % (p = 0.031), MO% (p = 0.024), MC% (p = 0.013) and $CD4^-CD8^+$ T lymphocyte (p = 0.023). The other SNP (ENSSSCG00000025058: g.657 A>G) was significantly associated with the level of MO% (p = 0.012), MC% (p = 0.019) and $CD4^-CD8^+$ T lymphocyte (p = 0.037). These results indicate that the NRAMP1 gene can be regarded as a molecular marker for genetic selection of disease susceptibility in pig breeding.

Analysis of polymorphic regions of Plasmodium vivax Duffy binding protein of Korean isolates

  • Kho, Weon-Gyu;Chung, Joon-Yong;Sim, Eun-Jeong;Kim, Dong-Wook;Chung, Woo-Chul
    • Parasites, Hosts and Diseases
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    • v.39 no.2
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    • pp.143-150
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    • 2001
  • The present study was designed to investigate polymorphism in Duffy binding protein (DBP) gene of Plasmodium vivax isolates of Korea. Thirty samples were obtained from P. vivax patients in Yonchon-gun, Kyonggi-do in 1998. The PCR products of the samples were subjected to sequencing and hybridization analyses of the regions II and IV of P. vivax DBP gene. Two genotypes, SK-1 and SK-2, were identified on the basis of amino acid substitution and deletion. The genotype of 10 isolates was SK-1 and that of 20 isolates was SK-2. Most of the predicted amino acids in the region ll of DBP gene were conserved between the Korean isolates and Belem strain except for 4-5 amino acid substitutions. In the region W of DBP, a 6-bp insert that was shown in the Sal-1 allele type was found in SK-1, and a 27-bp insert that was shown in the Papua New Guinea allele type was found in SK-2. In conclusion, the present findings suggest that two genotypes of P. vivax coexist in the endemic area of Korea.

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BLOOD PROTEIN POLYMORPHISMS OF NATIVE AND JUNGLE FOWLS IN INDONESIA

  • Hashiguchi, T.;Nishida, T.;Hayashi, Y.;Maeda, Y.;Mansjoer, S.S.
    • Asian-Australasian Journal of Animal Sciences
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    • v.6 no.1
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    • pp.27-35
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    • 1993
  • In an attempt to reveal the interrelationship between fowls of jungle and native origin, their gene constitutions were compared using gene frequencies at the 16 loci controlling blood protein variations. Of the 16 loci analysed by electrophoresis, polymorphism was detected at following seven loci: Es-1, Amy-1, Akp-akp, Akp-2, Alb, Tf and 6-PGD. The other nine loci: Amy-3, Es-D, PGM, PHI, MDH, To, LDH, Hb-1 and Hb-2, were noted to be monomorphic. Genetic distance between pairs of native fowl and jungle fowls was estimated by a numerical taxonomic method. The Indonesian native fowl was genetically close to the Indonesian red jungle fowl, and the grey jungle fowl was genetically similar to the Ceylonese jungle fowl. It was also suggested that the green jungle fowl was genetically remote from the other jungle fowls and from the Indonesian native flow. The proportion of polymorphic loci (Ppoly), the expected average heterozygosity per individual $\bar{H}$, and the effective number of alleles per locus (Ne) were calculated to evaluate the genetic variabilities in the native and jungle fowls. The Indonesian native fowl exhibited slightly higher the proportion of polymorphic loci than the jungle fowls.