• Title/Summary/Keyword: DNA variants

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Identification of Bak-like Protein cDNA (Bak-like 단백질을 code하는 cDNA의 동정)

  • 김진경
    • YAKHAK HOEJI
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    • v.45 no.4
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    • pp.426-430
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    • 2001
  • Cells are eliminated in a variety of physiological settings by apoptosis, a genetically encoded process of cellular suicide. Bak, a member of the Bcl-2 protein family, accelerates apoptosis by an unknown mechanism. We have found a novel cDNA encoding a 101 amino acid protein possessing a Bak-like in our full-length cDNA bank. Bak-like shares the conserved domains BHI and 2 with other proapoptotic proteins but lacks the BH3 domain. Bak-like is expressed in a wide variety of tissues. Like Bak, Bak-like gene product primarily enhances apoptotic cell death following an appropriate stimulus.

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Sequence variant of Hop Stunt Viroid(HSVd) detected from Plum trees cultivated in Korea and Phylogenetic Analysis

  • Lee, Sung-Joon;Hwang, Seung-Lark;Kwon, Tae-Young;Lee, Jai-Youl
    • Proceedings of the Korean Society of Plant Pathology Conference
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    • 2003.10a
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    • pp.143.1-143
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    • 2003
  • Hop stunt viroid(HSVd) is a plant pathogen which infect a number of hosts such as grapevine, Citrus and Prunus plants. Sequence variants of HSVd have been divided into three types(i. grapevine and hop, ii. citrus, iii. plum, peach, apricot and almond). Purified RNAs from plum trees were used for the synthesis of cDNA with reverse transcription and amplified by polymerase chain reaction. Cloned cDNAs were sequenced and two different consensus sequence variants were detected. A neighbor-joining analysis was carried out on the sequence variants together with 62 previously described variants of HSVd from hop, plum and other species. Sequence variants from plum trees cultivated in Korea were clustered in HSVd-plum subtype and not in HSVd-hop subtype which were two Korean isolates belongs. These relationship between sequence variants from plum and two Korean isolates in HSVd-hop type supports the other origin for hop stunt disease.

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(-)-Epigallocatechin-3-gallate Modulates the Differential Expression of Survivin Splice Variants and Protects Spermatogenesis During Testicular Torsion

  • Al-Ajmi, Nada;Al-Maghrebi, May;Renno, Waleed Mohammed
    • The Korean Journal of Physiology and Pharmacology
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    • v.17 no.4
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    • pp.259-265
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    • 2013
  • The anti-apoptotic effect of (-)-epigallocatechin-3-gallate (EGCG) during unilateral testicular torsion and detorsion (TT/D) was established in our previous study. In mice, the smallest inhibitor of apoptosis, survivin, is alternatively spliced into three variants, each suggested to have a unique function. Here, we assessed how EGCG exerts its protective effect through the expression of the different survivin splice variants and determined its effect on the morphology of the seminiferous tubules during TT/D. Three mouse groups were used: sham, TT/D+vehicle and TT/D treated with EGCG. The expression of the survivin variants (140 and 40) and other apoptosis genes (p53, Bax and Bcl-2) was measured with semi-quantitative RT-PCR. Histological analysis was performed to assess DNA fragmentation, damage to spermatogenesis and morphometric changes in the seminiferous tubules. In the TT/D+vehicle group, survivin 140 expression was markedly decreased, whereas survivin 40 expression was not significantly different. In parallel, there was an increase in the mRNA level of p53 and the Bax to Bcl-2 ratio in support of apoptosis induction. Histological analyses revealed increased DNA fragmentation and increased damage to spermatogenesis associated with decreased seminiferous tubular diameter and decreased germinal epithelial cell thickness in the TT/D+vehicle group. These changes were reversed to almost sham levels upon EGCG treatment. Our data indicate that EGCG protects the testis from TT/D-induced damage by protecting the morphology of the seminiferous tubules and modulating survivin 140 expression.

Genomic Susceptibility Analysis for Atopy Disease Using Cord Blood DNA in a Small Cohort

  • Koh, Eun Jung;Kim, Seung Jun;Ahn, Jeong Jin;Yang, Jungeun;Oh, Moon Ju;Hwang, Seung Yong
    • BioChip Journal
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    • v.12 no.4
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    • pp.304-308
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    • 2018
  • Atopic disease is caused by a complex combination of environmental factors and genetic factors, and studies on influence of exposure to various environmental factors on atopic diseases are continuously reported. However, the exact cause of atopic dermatitis is not yet known. Our study was conducted to analyse the association of SNPs with the development of atopic disease in a small cohort. Samples were collected from the Mothers' and Children's Environmental Health (MOCEH) study and 192 cord blood DNA samples were used to identify incidence of atopy due to influence of exposure to environmental factors. Genetic elements were analysed using a precision medicine research (PMR) array designed with various SNPs for personalized medicine. Case-control analysis of atopy disease revealed 253 significant variants (p<0.0001) and SNPs on five genes (CARD11, ZNF365, KIF3A, DMRTA1, and SFMBT1) were variants identified in previous atopic studies. These results are important to confirm the genetic mutation that may lead to the onset of foetal atopy due to maternal exposure to harmful environmental factors. Our results also suggest that a small-scale genome-wide association analysis is beneficial to confirm specific variants as direct factors in the development of atopy.

Survey of Proper Primers and Genetic Analysis of Korean Ginseng (Panax ginseng C.A. Meyer) Variants using the RAPD Technique (Randomly Amplified Polymorphic DNA (RAPD) 기술을 이용한 고려인삼의 유전분석을 위한 Primer 선발 및 변종별 비교)

  • 임용표;신최순;이석종;윤영남;조재성
    • Journal of Ginseng Research
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    • v.17 no.2
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    • pp.153-158
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    • 1993
  • The study was carried out for comparison of variants and development of genetic markers using Randomly Amplified Polymorphic D사A (RAPD) analysis method. The ginseng variants used were as follows: Chungkyung-Chong, Hwangskoog-Chong, KG101 selected by the pureline selection method, and 6 kinds of Jakyung-Chong strains Uinjakyung, Jakyung-Chong 81783, Jakyung-Chong 847913, Jaky tong-Chong 79742, Jinjakyung of USSR, and Mimaki of Japan). Four of 10 RAPD primers showed the distinctive polymorphism among 9 ginseng variants and lines, and were selected for more detailed polymorphic analysis. The sequences of 4 selected primers were TGCCGAGCTG (Primer#2), AATCGGGCTG (#4), GAAACGGGTG (U7), and GTGACGTAGG (#8). All primers produced several common bands among the strains. However, when primer # 2 was applied, the electrophoregram showed the specific band at 1.8 kb region in Chungkyung-Chong, Hwangskoog- chong, and KG101, and 1 kb in the Jakyung-Chong 847913. In primer #4, 1.1 kb band was shown in Chungkyung-Chong, Hwangskoog-Chong, KG101, and Jakyung-Chong 79742. In primer # 7, 700 bp band was appeared in Jakyung-Chong 81783 and Jinjakyung of USSR In primer # 8, 800 bp band was observed only in Mimaki, comparing to another strains. When Similarity Index (SI) was calculated, Chungkyung-Chong and Hwngskoog-Chong, and Jakyung- chong 81783 and Jinjakyung of USSR showed the most close SI, 0.11 and 0.08, respectively. The data of KG101, which showed the SI of 0.13 with the group of Chungkyung-Chong and Hwangskoog-Chong, coincided with the fact that it was released from Hwangskoog-Chong by breeding process. The data of Jakyung strains indicated the significant variation among the strains. From these results, RAPD analysis method could be succesively applied to the classification and genetic analysis for breeding of Korean ginseng.

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Randomly Amplified Polymorphic DNA (RAPD) Analysis of the Lisianthus (Eustoma grandiflorum Shinn.) Variants Obtained during Tissue Culture (꽃도라지(Eustoma grandiflorum Shinn.) 조직배양시 발생한 변이체의 RAPD 분석)

  • Cheong, Chang Ho;Yu, Kee Won;Paek, Kee Yoeup
    • Horticultural Science & Technology
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    • v.17 no.3
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    • pp.352-354
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    • 1999
  • Randomly and specifically amplified polymorphic DNA band patterns based on polymerase chain reaction (PCR) analysis were used to assess genetic variation of somaclonal variants obtained from tissue culture of lisianthus (Eustoma grandiflorum). Five different types of variant were classified by morphological characters such as leaflet number, leaf shape, caulicle length, plant height, and leaf area. Five primers out of 20 primers (10 mer) resulted in 34 random amplified DNA fragments with polymorphisms (64.7%) in all tested plants. The dissimilarity coefficient was from 0.71 to 0.91 by UPGMA cluster analysis. Based on the presence of polymorphic bands, normal plant and five somaclonal variants were divided into two groups at the similarity coefficient value of 0.79.

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Isolation and Characterization of Chloroplast DNA in Korea Ginseng, Panax gindeng C.A. Meyer (고려인삼(Panax ginseng C.A. Meyer)의 엽록체 DNA 분리 및 특성조사)

  • Lee, Jeong-Heon;Lim, Yong-Pyo;Choi, Kwang-Tae
    • Journal of Ginseng Research
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    • v.17 no.1
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    • pp.39-44
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    • 1993
  • In Korean ginseng, Panax ginseng C.A Meyer, it was difficult to isolate chloroplast DNA with classical methods, because of the high polysaccharide content of ginseng chloroplast The simple and efficient method of chloroplast DNA isolation from ginseng leaves has been developed by motificalion of recently advanced methods. Also, it can be successfully applied to ctDNA isolation of Chinese cabbage, radish, petunia tobacco as well as ginseng. Isolated chloroplast DNA from ginseng was digested with various restriction endonucleases. It was estimated that the molecular weight of Korean ginseng chloroplast DNA was about 142 kb. There was no difference in restriction endonuclease digestion patterns between two variants of Korean ginseng, which are Jakyung-Jong (violet-stem variant) and Hwang- sook-Jong (yellow-berry variant).

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The Codon 399 Arg/Gln XRCC1 Polymorphism is Associated with Lung Cancer in Indians

  • Natukula, Kirmani;Jamil, Kaiser;Pingali, Usha Rani;Attili, Venkata Satya Suresh;Madireddy, Umamaheshwar Rao Naidu
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.9
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    • pp.5275-5279
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    • 2013
  • Background: The XRCC1 (X-ray repair cross complimenting group-I) gene in BER (base excision repair) pathway is essential for DNA repair process. Polymorphisms in this gene are associated with variations in the repair efficiency which might predispose individuals to development of various cancers. Two variants of XRCC1gene (at codon 399), Gln/Gln and Arg/Gln, have been shown to be related to lowered DNA repair capacity and increased genomic instability in multiple studies. Hence our investigation focused on genotyping these variants to correlate with other multiple risk factors in lung cancer (NSCLC) patients since we hypothesized that these variants of the XRCC1 gene might influence disease susceptibility. Materials and Methods: We examined the frequency of the polymorphism in one hundred cases and an almost equal number of controls after recording their demographics with a structured questionnaire. Genomic DNA from blood samples was extracted for PCR studies, followed by RFLP to determine the variants. The significance of the data was statistically analyzed. Results: The three genotypes in cases and controls were Arg/Arg (40% and 54.45%); Gln/Gln (19% and 9.90%), and Arg/Gln (41.0% and 35.64%) respectively. Among these 3 genotypes, we found Gln/Gln and Arg/Gln to show association with lung cancer. Correlating these genotypes with several parameters, we also found that these two variants were associated with risk in males (p<0.05) and with smoking habits (p<0.05). In females Arg/Gln genotype showed association with stage of the disease (p=0.04). This is the first report in South Indian scenario where Arg399Gln genotypes were found to be associated with stage of the disease in females. Conclusions: It is concluded that XRCC1 genotypes Gln/Gln and Arg/Gln may influence cancer susceptibility in patients with smoking habits and these functional SNPs in XRCC1 gene may act as attractive candidate biomarkers in lung cancer for diagnosis and prognosis.

Uncoupling Protein 3 in the Rainbow Trout, Oncorhynchus mykiss Sequence, Splicing Variants, and Association with the AvaIII SINE element

  • Kim, Soon-Hag;Choi, Cheol-Young;Hwang, Joo-Yeon;Kim, Young-Youl;Park, Chan;Oh, Berm-Seok;Kimm, Ku-Chan;Scott A. Gahr;Sohn, Young-Chang
    • Journal of Aquaculture
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    • v.17 no.1
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    • pp.1-7
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    • 2004
  • A rainbow trout uncoupling protein 3 (UCP3) cDNA clone, encoding a 310 amino acid protein, was cloned and sequenced from a liver cDNA library. Two different splice variants designated UCP3-vl and UCP3-v2, were identified through liver cDNA library screening using rainbow trout UCP3 cDNA clone as a probe. UCP3-vl has 3 insertions in the UCP3 cDNA: the first insertion (133 bp), the second (141 bp), and the third (370 bp) were located 126 bp, 334 bp and 532 bp downstream from the start codon, respectively. UCP3-v2 contained a single insertion, identical in sequence and location to the second insertion of UCP3-vl. UCP3, a mitochondrial protein, functions to modulate the efficiency of oxidative phosphorylation. UCP3 has been detected from heart, testis, spinal cord, eye, retina, colon, muscle, brown adipose tissue and white adipose tissue in mammalian animals. Human and rodent UCP3s are highly expressed in skeletal muscle and brown adipose tissue, while they show weak expression of UCP3 in heart and white adipose tissue. In contrast to mammalian studies, RT-PCR and Southern blot analysis of the rainbow trout demonstrated that UCP3 is strongly expressed in liver and heart. UCP3, UCP3-vl, and UCP3-v2 all contain an Ava III short interspersed element (SINE), located in the 3'untraslated region (UTR). PCR using primers from the Ava III SINE and the UCP3 3'UTR region indicates that the UCP3 cDNA is structurally conserved among salmonids and that these primers may be useful for salmonid species genotyping.

Variations in Sweetpotato Regenerates from Gamma-ray Irradiated Embryogenic Callus

  • Lee, Young-Ill;Lee, In-Sok;Lim, Yong-Pyo
    • Journal of Plant Biotechnology
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    • v.4 no.4
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    • pp.163-170
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    • 2002
  • Radiation induced and somaclonal variations were investigated in the regenerates from gamma irradiated and controlled embryogenic callus (EC) of sweetpotato cvs., Yulmi and White Star by morphological, RAPD and AFLP analysis. Most (approx. 90%) of the EC produced somatic embryos developed into plantlets after being transferred to the auxin-free medium. The frequency of morphological variants derived from the irradiated callus ranged from 3 to 7.8% compared to 0.1-1.1% of that derived from the non-irradiated. Morphological variants were selected from the regenerates and analyzed by RAPD and AFLP procedures. RAPD polymorphisms of Yulmi and White Star regenerates from irradiated calli were 8.8% and 6.1%, respectively. However, the polymerphisms among regenerates from the non-irradiation treatment in these two cultivars were non-detectable and 3%, respectively. AFLP polymorphisms of Yulmi and White Star regenerates from irradiated calli were 29.9% and 28.6%, respectively. while the frequencies for those form non-irradiated calli were 8.5% and 5.6%, respectively. Both the control plants and variants from the nonirradiated were clustered together, while variants from irradiated were separated from the group by Nearest-Neighbor-Interchange Branch Swapping Abbreviation: EC (Embryogenic callus), AFLP (Amplified Fragment Length Polymorphism), RAPD (Random amplified polymorphic DNA)