• 제목/요약/키워드: 군 유전체

검색결과 171건 처리시간 0.029초

Polymorphisms of the NR3C1 gene in Korean children with nephrotic syndrome (한국 신증후군 환아에서 NR3C1 유전자 다형성 분석)

  • Cho, Hee Yeon;Choi, Hyun Jin;Lee, So Hee;Lee, Hyun Kyung;Kang, Hee Kyung;Ha, Il Soo;Choi, Yong;Cheong, Hae Il
    • Clinical and Experimental Pediatrics
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    • 제52권11호
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    • pp.1260-1266
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    • 2009
  • Purpose : Idiopathic nephrotic syndrome (NS) can be clinically classified as steroid-sensitive and steroid-resistant. The detailed mechanism of glucocorticoid action in NS is currently unknown. Methods : In this study, we investigated 3 known single nucleotide polymorphisms (SNPs) (ER22/23EK, N363S, and BclI) of the glucocorticoid receptor gene (the NR3C1 gene) in 190 children with NS using polymerase chain reaction-restriction fragment length polymorphism and analyzed the correlation between the genotypes and clinicopathologic features of the patients. Results : Eighty patients (42.1%) were initial steroid nonresponders, of which 31 (16.3% of the total) developed end-stage renal disease during follow-up. Renal biopsy findings of 133 patients were available, of which 36 (31.9%) showed minimal changes in NS and 77 (68.1%) had focal segmental glomerulosclerosis. The distribution of the BclI genotypes was comparable between the patient and control groups, and the G allele frequencies in both the groups were almost the same. The ER22/23EK and N363S genotypes were homogenous as ER/ER and NN, respectively, in all the patients and in 100 control subjects. The BclI genotype showed no correlation with the NS onset age, initial steroid responsiveness, renal pathologic findings, or progression to end-stage renal disease. Conclusion : These data suggested that the ER22/23EK, N363S, and BclI SNPs in the NR3C1 gene do not affect the development of NS, initial steroid responsiveness, renal pathologic lesion, and progression to end-stage renal disease in Korean children with NS.

Heterologous Expression of a Model Polyketide Pathway in Doxorubicin-overproducing Streptomyces Industrial Mutants (방선균 항생제 고생산 산업균주를 기반으로 한 모델 폴리케타이드의 이종숙주 발현)

  • Kim, Hye-Jin;Lee, Han-Na;Kim, Eung-Soo
    • Microbiology and Biotechnology Letters
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    • 제40권1호
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    • pp.10-16
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    • 2012
  • The Streptomyces peucetius OIM (Overproducing Industrial Mutant) strain is a recursively-mutated and optimally-screened strain used for the industrial production of polyketide antibiotics, such as doxorubicin (DXR). Using the S. peucetius OIM mutant strain as a surrogate host, a model minimal polyketide pathway for aloesaponarin II, an actinorhodin shunt product, was cloned in a high-copy conjugative plasmid, followed by functional pathway expression and quantitative metabolite analysis. The level of aloesaponarin II production was noted as being significantly higher in the OIM strain than in the wild-type S. peucetius, as well as in the regulatory network-stimulated S. coelicolor mutant strain. Moreover, the aloesaponarin II production level was seen to be even higher in a down-regulator $wblA_{spe}$-deleted S. peucetius OIM strain, implying that the rationally-engineered S. peucetius OIM mutant strain could be used as an efficient surrogate host for the high expression of foreign polyketide pathways.

Effects of Genetic and Environmental Factors on the Depression in Early Adulthood (초기 성인기 우울증에 대한 유전적, 환경적 요인의 영향)

  • Kim, Sie-Kyeong;Lee, Sang-Ick;Shin, Chul-Jin;Son, Jung-Woo;Eom, Sang-Yong;Kim, Heon
    • Korean Journal of Biological Psychiatry
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    • 제15권1호
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    • pp.14-22
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    • 2008
  • Objectives : The authors purposed to present data for explaining gene-environmental interaction causing depressive disorder by examining the effects of genetic factors related to the serotonin system and environmental factors such as stressful life events in early adulthood. Methods : The subjects were 150 young adults(mean age 25.0${\pm}$0.54), a part of 534 freshmen who had completed the previous study of genotyping of TPH1 gene. We assessed characteristics of life events, depression and anxiety scale and checked if they had a depressive disorder with DSM-IV SCID interview. Along with TPH1 A218C genotype confirmed in previous study, TPH2 -1463G/A and 5HTR2A -1438A/G genes were genotyped using the SNaPshot$^{TM}$ method. Results : In comparison with the group without C allele of TPH1 gene, the number of life events had a significant effect on the probability of depressive disorder in the group with C allele. Other alleles or genotypes did not have a significant effect on the causality of life events and depressive disorder. Conclusion : The results of this study suggest that TPH1 C allele is a significant predictor of onset of depressive disorder following environmental stress. It means that the TPH1 gene may affect the gene-environmental interaction of depressive disorder.

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Diversity of I-SSR Variants in Gingko biloba L. Planted in 6 Regions of Korea (국내(國內) 6개(個) 은행(銀杏)나무 식재지(植栽地)에 있어서 I-SSR 변이체(變異體)의 다양성(多樣性))

  • Hong, Yong-Pyo;Cho, Kyung-Jin;Hong, Kyung-Nak;Shin, Eun-Myeong
    • Journal of Korean Society of Forest Science
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    • 제90권2호
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    • pp.169-175
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    • 2001
  • Genomic DNAs were extracted from the leaves of 182 ginkgo trees (Ginkgo biloba L.) planted in 6 regions and subjected to the analysis of both I-SSR and RAPD markers. A total of 227 amplicon variants were generated by PCR using 15 I-SSR primers and 67 amplicons by PCR with 5 RAPD primers. Levels of genetic diversity within 6 populations were turned out to be similar (Shannon's Index, I-SSR : 0.35~0.40; mean of 0.38, RAPD : 0.31~0.38; mean of 0.35, combined : 0.35~0.40; mean of 0.37). Ranks of the level of genetic diversity estimated from I-SSR, RAPD, and combined data were not coincided each other. Majority of genetic diversity was allocated among individuals within populations (I-SSR : 94.31%, RAPD : 93.62%, combined : 93.57%), which resulted in pretty low level of population differentiation. Genetic differentiation between male and female groups was turned out to be quite low (I-SSR : 0.03, RAPD : 0.091, combined : 0.043), which slightly fluctuated when analysis was restricted to the data obtained from 3 regions where both male and female trees were sampled (I-SSR : 0.038, RAPD : 0.084, combined : 0.047). Genetic relationships among the populations, reconstructed by UPGMA, were not coincided with geographic affinity, which might be resulted from sharing of seed sources in some regions. Whereas independent cluster analyses with I-SSR data and RAPD data, respectively, reclassified by sexes revealed two sexual groups in which all the male and the female populations were clustered together, cluster analysis with combined data did not show clear sexual grouping.

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DNA microarray analysis of RNAi plant regulated expression of NtROS2a gene encoding cytosine DNA demethylation (시토신 탈메틸화 관련 NtROS2a 유전자 발현을 제어한 RNAi 식물의 DNA microarray 분석)

  • Choi, Jang Sun;Lee, In Hye;Jung, Yu Jin;Kang, Kwon Kyoo
    • Journal of Plant Biotechnology
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    • 제43권2호
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    • pp.231-239
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    • 2016
  • To study the transcript levels of epigenetically regulated genes in tobacco, we have developed a transgenic line OX1 overexpressing NtROS2a gene encoding cytosine DNA demethylation and a RNAi plant line RNAi13. It has been reported that salt- and $H_2O_2$-stress tolerance of these transgenic lines are enhanced with various phenotypic characters (Lee et al. 2015). In this paper, we conducted microarray analysis with Agilent Tobacco 4 x 44K oligo chip by using overexpression line OX1, RNAi plant line RNAi 13, and wild type plant WT. Differentially expressed genes (DEGs) related to metabolism, nutrient supply, and various stressed were up-regulated by approximately 1.5- to 80- fold. DEGs related to co-enzymes, metabolism, and methylation functional genes were down-regulated by approximately 0.03- to 0.7- fold. qRT-PCR analysis showed that the transcript levels of several candidate genes in OX1 and RNAi lines were significantly (p < 0.05) higher than those in WT, such as genes encoding KH domain-containing protein, MADS-box protein, and Zinc phosphodiesterase ELAC protein. On the other hand, several genes such as those encoding pentatricopeptide (PPR) repeat-containing protein, histone deacetylase HDAC3 protein, and protein kinase were decreased by approximately 0.4- to 1.0- fold. This study showed that NtROS2a gene encoding DNA glycosylase related to demethylation could regulate adaptive response of tobacco at transcriptional level.

Comparative Analysis of Mitochondrial Genomes of the Genus Sebastes (Scorpaeniformes, Sebastidae) Inhabiting the Middle East Sea, Korea (한국 동해 중부해역에 서식하는 볼락속(Sebastes) 어류의 미토콘드리아 유전체 비교분석)

  • Jang, Yo-Soon;Hwang, Sun Wan;Lee, Eun Kyung;Kim, Sung
    • Korean Journal of Ichthyology
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    • 제33권4호
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    • pp.226-239
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    • 2021
  • Sebastes minor, Sebastes trivittatus, Sebastes owstoni, and Sebastes steindachneri are indigenous fish species inhabiting the central part of the East Sea, Korea. In order to understand the molecular evolution of these four rockfishes, we sequenced the complete mitochondrial genomes (mitogenomes) of S. minor and S. trivittatus. To further analyze the phylogeny of Sebastes species, the mitogenomes of 16 rockfishes were comparatively investigated. The complete mitochondrial DNA (mtDNA) nucleotide sequences of S. minor and S. trivittatus were 16,408 bp and 16,409 bp in length, respectively. A total of 37 genes were found in mtDNA of S. minor and S. trivittatus, including 13 protein-coding genes, 2 ribosomal RNA genes, and 22 transfer RNA genes, which exhibited similar characters with other Sebastes species in the East Sea, Korea. In addition, we detected a conserved motif "ATGTA" in the control region of the four Sebastes species, but no tandem repeat units. Comparative analyses of the congeneric mitochondrial genomes were performed, which showed that control regions were more variable than the concatenated protein-coding genes. As a result of analysing phylogenetic relationships of four Sebastes species by using concatenated nucleotide sequences of 13 protein-coding genes, S. minor, S. trivittatus, S. owstoni and S. steindachneri were clustered into three clades. The phylogenetic tree exhibited that S. minor and S. steindachneri shared a closer relationship, whereas S. trivittatus and S. vulpes formed another distinct clade. Our results contribute to a better understanding of evolutionary patterns of Sebastes species inhabiting the middle East Sea, Korea.

Transmission and Disequilibrium Tests Based on Sibship Data (형제 및 자매의 유전자형 자료에 기초한 전달불균형 검정법에 관한 연구)

  • Kim, Jin-Heum;Jang, Yang-Soo
    • The Korean Journal of Applied Statistics
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    • 제21권1호
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    • pp.81-94
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    • 2008
  • Family-based tests such as the transmission and disequilibrium tests(TDT) have proved to be powerful tools in the search for disease genes. Unlike case-control studies, the tests are not affected by population admixture, which can lead to spurious association of multiple highly linked makers with disease-susceptible genes. Those tests have largely required knowledge of parental marker genotypes. However, parental data are often not available for late-onset diseases. In this article we propose sib-TDTs that overcome this problem by use of marker data from unaffected sib(s) instead of parents. To do this end, we fist defined a Mantel-Haenszel-type statistic for each haplotype and then proposed two tests based on this statistic. Simulation studies suggest that the proposed tests are robust to population admixture and are monotone increasing as a relative risk increases irrespective of mode of inheritance. We also illustrated the proposed tests with data adopted from Yonsei Cardiovascular Genome Center.

Studies on Classification and Genetic Nature of Korean Local Corn Lines (한국(韓國) 재래종(在來種) 옥수수의 계통분류(系統分類) 및 유전적(遺傳的) 특성(特性)에 관(關)한 연구(硏究))

  • Lee, In Sup;Choi, Bong Ho
    • Korean Journal of Agricultural Science
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    • 제9권1호
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    • pp.396-450
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    • 1982
  • To obtain basic information on the Korean local corn lines a total of 57 lines were selected from 1,000 Korean local collection at Chungnam National University, classified by principal component analysis, and genetic nature was investigated. The results are summarized as follows. 1. There were a great variation in mean values of plant characters of the lines. The mean values of plant characters except for density of kernels varied with types of crossing. All characters except. for tasselling dates were reduced in magnitude when selfed, while those characters were increased when topcrossed. 2. The correlation coefficients among characters studied ranged front 0.99 to -0.59. The correlation coefficients among characters were not greatly changed depending upon types of crosses. 3. In order to classify the lines more effectively, selected 12 plant characters were used to classify 57 local lines by principal component analysis. The first four component could explain 86.4%, 83.4% and 81.1% of the total variations in sibbed lines, selfed lines and topcrossed lines, respectively. 4. Contribution of characters to principal component was high at upper principal components and low at lower principal components. 5. Biological meaning of the principal component and plant types corresponding to the each principal component were explained clearly by the correlation coefficient between principal components and characters. The first principal component appeared to correspond to the size of plant and ear. The second principal component appeared to correspond to the degree of differentiation in organs and the duration of vegetative growing period. But biological meaning of the third and fourth principal components was not clear. 6. The lines were classified into 4 lineal groups by the taxonomic distance. Group I included 52 lines which was 91.2% of total lines, group II 3 lines, group III 1 lines and group IV I lines, respectively. Four groups could be characterized as follows : Group I : early maturity, short-culmed, medium height plant, small ears, medium kernels and medium yielding. Group II : late maturity, medium height plant, small ears, small kernels, prolific ears and higher yielding. Group III : medium maturity, tall-culmed, small ears, small kernels and low yielding. Group IV : medium maturity, tall-calmed, large ears, one ear plant and me yielding. 7. The inbreeding depression varied with plant characters and lines. The characters such as yield, kernel weight per ear, ear weight and plant height showed great degree of inbreeding depression. Group I showed high inbreeding depression in such characters as 100 kernel weight, leaf number, plant height and days to tasselling, while group II showed high inbreeding depression in other plant characters. 8. Heterosis of plant characters varied also with lines. The ear weight, kernel weight per ear, yield, 100 kernel weight, and plant height were some of the plant characters showing high heterosis. Group II showed high values of heterosis in such characters as ear length, ear diameter, ear weight, kernel weight per ear, 100 kernel weight, and leaf length, while group I was high in heterosis in other plant characters. 9. The degree of homozgosity was highest in ear weight (79.1%) and lowest in ear number per plant (-21%). Group II showed higher degree of homozygosity than group I. 10. Correlation coefficients between characters of ribbed and topcrossed lines were positive for all characters. Highly significant. correlation coefficients between ribbed and topcrossed lines were obtained especially for characters such as ear number per plant, plant height, leaf length and yield per plot.

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Production of Supermale (YY) and Superfemale $({\Delta}YY)$ Nile Tilapia (Oreochromis niloticus) by Sex Reversal and Chromosome Manipulation I. Induction of Gynogenetic Diploid from XY Female (성전환 및 염색체 공학 기법을 이용한 초수컷(YY) 및 초암컷$({\Delta}YY)$ 나일틸라피아(Oreochromis niloticus) 생산 I. 성전환된 XY 암컷으로부터 자성발생성 이배체 유도)

  • Kim Dong Soo;Choi Yoon Hee;Noh Choong Hwan;Nam Yoon Kwon
    • Journal of Aquaculture
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    • 제8권4호
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    • pp.295-306
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    • 1995
  • The present study was performed to produce supermales and superfemales in Oreochromis niloticus by combination of induced sex reversal and diploid gynogenesis. More than $95\%$ of female was obtained by oral administration of $17\beta-estradiol$ (480 mg/kg diet) to the eutheroembryonic larvae of this species. The result of progeny tests with XY pseudofemales showed that incidences of male progeny were ranged from $71.4\%\;to\;73.7\%$. p.opo.lion of male from XY pseudofemale was not significantly different (P>0.05) from that of $\chi^2$ (1:3), but it was significantly different (P<0.01) from that of $\chi^2$(1:1) Gynogenetic diploids were produced by applying cold shocks 3 min after insemination to the eggs of XY pseudofemale sperms were genetically inactivated by ultraviolet rays of 4,050 $erg/mm^2$. Fertilization rates of gynogenetic diploids were not different from that of their controls, however, hatching rates and early survival rates were silghtly lower than those of controls. In the cytogenetic studies, there was no difference in the size of cell and nucleus between the gynogenetic diploids and the controls. At 80 days after hatching, frequencies of gynogenetic male were higher than those of gynogenetic female (P<0.01) in their population.

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