• Title/Summary/Keyword: chromosome 5

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A Commensal Thermophile, Symbiobacterium toebii: Distribution, Characterization, and Genome Analysis

  • Bae Jin-Woo;Kim Kwang;Song Jae Jun;Ha Jae Seok;Kim Joong-Jae;Kang Gwan-Tae;Kim Mi-Hwa;Hong Seung-Pyo;Sung Moon-Hee
    • Proceedings of the Microbiological Society of Korea Conference
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    • 2001.11a
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    • pp.46-53
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    • 2001
  • A commensal thermophile, Symbiobacterium toebii, isolated from hay compost (toebii) in Korea commensally interacted with a thermophilic Geobacillus toebii sp. nov., which was a new species within the genus Geobacillus on the basis of the phenotypic traits and molecular systematic data. S. toebii required the crude extracts and/or culture supernatant of the Geobacillus toebii for axenic growth and could grow on the temperature between 45 and $70^{\circ}C$ (optimum: $60^{\circ}C$; 2.4 h doubling time) and pH 6.0 and 9.0 (optimum: pH 7.5). The G+C content of the genomic DNA was $65 mol\%$, and the major quinones were MK-6 and MK-7. A phylogenetic analysis of its 16S rDNA sequence indicated that Symbiobacterium toebii was closely related with solely reported Symbiobacterium thermophilum. The presence of the commensal thermophile 16S rDNA and accumulation of indole in all the enriched cultures indicate that Symbiobacterium toebii is widely distributed in the various soils. The genome of S. toebii constituted a circular chromosome of 3,280,275 base pairs and there was not an extra-chromosomal element (ECE). It contained about 4,107 predicted coding sequences. Of these protein coding genes, about $45.6\%$ was encoded well-known proteins and annotated the functional assignment of 1,874 open reading frames (ORFs), and the rest predicted to have unknown functions. The genes encoding thermostable tyrosine phenol-lyase and tryptophan indole-lyase were cloned from the genomic DNA of S. toebii and the enzymatic production of L-tyrosine and L-tryptophan was carried out with two thermostable enzymes overexpressed in recombinant E. coli.

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Reidentification of Comamonas sp. Strain DJ-12 and Analysis of its pcbABC2D2 Genes Responsible for Degradation of 4-Chlorobiphenyl. (Comamonas sp. Strain DJ-12 의 재동정 및 4-Chlorobiphenyl 분해유전자 pcbABC2D2 의 분석)

  • 이준훈;박동우;강철희;채종찬;이동훈;김치경
    • Korean Journal of Microbiology
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    • v.40 no.2
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    • pp.121-126
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    • 2004
  • Comamonas sp. strain DJ-12 is a 4-chlobiphenyl(4CB)-degrading bacterium that was reidentified from Pseudomonas sp. DJ-12. The genomic DNA was isolated from the strain DJ-12 and amplified by PCR with primers for cloning pcbABCD genes responsible for degradation of 4CB. The amino acid sequences deduced from the nucleotide sequences of pcbA1, pcbA2, pcbA3, pcbA4, pcbB, pcbC2, and pcbD2 genes showed 91, 87, 99, 87, 97, 90 and 87% homologies with those of Pseudomonas sp. KKS102, respectively. The pcbC1D1 genes that are involved in the degradation of (4-chloro)1,2-dihydroxybiphenyl produced from 4CB by pcbAB gene products were previously reported in the recombinant plasmid pCU1 from Pseudomonas sp. DJ-12. However, the pcbC2D2 genes in the plasmid pCT4 and pCT5 cloned from Comamonas sp. DJ-12 in this study showed 51 and 62% homologies with those of pcbC1D1 in their nucleotide sequences. The pcbC1D1 and pcbC2D2 genes were found by Southern hybridization to be located at different loci on the chromosome of DJ-12 strain. These results indicate that Comamonas sp. strain DJ-12 has two different sets of pcbCD genes responsible for deg-radation of (4-chloro)1,2-dihydroxybiphenyl.

A Case of Congenital Nephrogenic Diabetes Insipidus Confirmed by Gene Analysis (유전자 분석검사로 확진된 선천성 신성 요붕증 1례)

  • Cho, Eun Young;Oh, Jin Hee;Koh, Dae Kyun
    • Clinical and Experimental Pediatrics
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    • v.48 no.6
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    • pp.669-674
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    • 2005
  • Nephrogenic diabetes insipidus (NDI) is a disorder in which the secretion of antidiuretic hormone is normal, but the response of the renal collecting tubules to vasopressin is impaired. Compared with acquired NDI (a-NDI), which is secondary to chronic bilateral incomplete urinary tract obstruction with hydronephrosis, congenital NDI (c-NDI) is a very rare heritable disorder that usually follows the X- linked recessive pattern. Clinical symptoms of c-NDI can be non specific, and often the disease ultimately results in failure to thrive, or mental retardation. Recently, the diagnosis can be confirmed by direct sequencing analysis of the peripheral blood specimens. The long-term results of treatment for c-NDI are not satisfactory. Reports on the follow up of c-NDI cases are rare and there is no report on the cases treated with combinations of three drugs. We report herein a case of severe c-NDI in an 8 year-old-boy with a severely dysconfigurated urinary tract system. The patient and his mother showed a frameshift mutation on the AVPR2 gene on chromosome Xq28:.847_851delTGCTG (p.C283fsX90). The patient showed normal growth and development by treatment with combinations of hydrochlorothiazide ($65mg/m^2$), amiloride (0.3 mg/kg/d) and indomethacin ($100mg/m^2$), yet after five years he needed adjuvant cystostomy to relieve him from the residual symptoms of urgency with polyuria.

Genome-wide Association Study to Identify Quantitative Trait Loci for Meat and Carcass Quality Traits in Berkshire

  • Iqbal, Asif;Kim, You-Sam;Kang, Jun-Mo;Lee, Yun-Mi;Rai, Rajani;Jung, Jong-Hyun;Oh, Dong-Yup;Nam, Ki-Chang;Lee, Hak-Kyo;Kim, Jong-Joo
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.11
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    • pp.1537-1544
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    • 2015
  • Meat and carcass quality attributes are of crucial importance influencing consumer preference and profitability in the pork industry. A set of 400 Berkshire pigs were collected from Dasan breeding farm, Namwon, Chonbuk province, Korea that were born between 2012 and 2013. To perform genome wide association studies (GWAS), eleven meat and carcass quality traits were considered, including carcass weight, backfat thickness, pH value after 24 hours (pH24), Commission Internationale de l'Eclairage lightness in meat color (CIE L), redness in meat color (CIE a), yellowness in meat color (CIE b), filtering, drip loss, heat loss, shear force and marbling score. All of the 400 animals were genotyped with the Porcine 62K SNP BeadChips (Illumina Inc., USA). A SAS general linear model procedure (SAS version 9.2) was used to pre-adjust the animal phenotypes before GWAS with sire and sex effects as fixed effects and slaughter age as a covariate. After fitting the fixed and covariate factors in the model, the residuals of the phenotype regressed on additive effects of each single nucleotide polymorphism (SNP) under a linear regression model (PLINK version 1.07). The significant SNPs after permutation testing at a chromosome-wise level were subjected to stepwise regression analysis to determine the best set of SNP markers. A total of 55 significant (p<0.05) SNPs or quantitative trait loci (QTL) were detected on various chromosomes. The QTLs explained from 5.06% to 8.28% of the total phenotypic variation of the traits. Some QTLs with pleiotropic effect were also identified. A pair of significant QTL for pH24 was also found to affect both CIE L and drip loss percentage. The significant QTL after characterization of the functional candidate genes on the QTL or around the QTL region may be effectively and efficiently used in marker assisted selection to achieve enhanced genetic improvement of the trait considered.

Characterization of Brewing Yeast Expressing Glucoamylase Selected by Rare Mating. (Rare Mating에 의한 양초효모에서의 glucoamylase 발현 균주 HCS 선별 및 특성)

  • 최병주;장금일;김광엽
    • Microbiology and Biotechnology Letters
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    • v.29 no.4
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    • pp.212-220
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    • 2001
  • Rare mating was used to select a respiratory deficient mutant of Saccharomyces cerevisiae HDC52 strain. Glucoamylase gene of S. diastaticus K114 was developed into the RD mutant which could uptake maximum amount of non-fermentable sugars through the expression of glu- coamplyase gene and the fermentation characteristics of the developed strain HCS were investigated. The size of HCS yeast and HBD52 yeast strain were 13 $\mu\textrm{m}$ and 10$\mu\textrm{m}$ respectively. HCS strain which can uptake maximum amount of non-fermentable sugar through the expression of glucoamylase gene was developed. By karyotype anal- ysis. HCS stain but not RD mutant HBC52 showed a band of 1150 kb chromosome DNA This band should include glcoamylase gene from Saccharomyces diataticus K114 THis strain has glucoamylase which can degrade starch By transduction and contrnuance of glucoamylase gene HCS strain gegraded strach and formed halo. Also, HCS strain maintained the character after 50 generations. Glucoamylase activities of Saccharomyces diastaticus K114 and HCS yeast strains are 9.5 and 2.7~3.4(unit/ml) HCS and HBC52 strain showed similar sugar fermentation patterns and low flocculation In spore and film forming test, HCS and HBC52 strain formed neither spores nor films. In the limit fermentation test, HBC52 strain showed fermentation level of 68% and HCS strain showed 76~78% As the limit attenuation of HBC52 and HCS were ($2.00^{\circ}$P) and ($0.7~0.93^{\circ}$P) This study demon- strates and HCS strain may be used for low carbohydrate beer fermentation.

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Telomerase Activity in Non-small Cell Lung Cancer (비소세포폐암에 있어서의 Telomerase 활성도)

  • 김진국;김관민
    • Journal of Chest Surgery
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    • v.30 no.7
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    • pp.701-707
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    • 1997
  • Although many reseraches have been persued to detect the molecular tumor marker to define the cancer, ideal tumor marker which speak for the characteristics of malignancy and has high sensitivity and specificity is not known. One of the characteristics of the malignant cells is indefinite proliferative potential, in other word, immortality. The expression of telomerase and stabilization of te10meres are con omitant with the attaiunent of immortality in tumor cells; thus the measurement of telomerase activity in clinically obtained tumor samples may provide important information which would be useful as a diagnostic marker to detect immortal cancer cells. Telomerase activity was analyzed in 12 non-small cell . lung cancer cell lines and 41 primary non-small cell lung cancers with the use of a PCR-based assay. All the cell lines and the majority of tumors displayed telomerase activity, but telomerase was not detectable in most of the corresponding pathologically-normal tissues. Telomere length was not correlated with telomerase activity. The present study indicate that measurement of telomerase activity may be useful as a molecular tumor marker in non-small cell lung cancer.

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Genetic Analysis of Pigmentation Pattern in the Leopard Danio (Leopard danio 반문의 유전 양상과 생존율에 미치는 영향)

  • 이병문;강거영;송춘복
    • Journal of Aquaculture
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    • v.11 no.3
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    • pp.353-361
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    • 1998
  • Genetic analysis of body pigmentation pattern has been conducted by the reciprocal monohybrid and back crosses using the wild type zebrafish, Danio rerio, and its aquarium morphs (mutants), leopard danio. Also, the effect fo pigmentation mutation was investigated with regard to the survival rates of eggs and larvae for the first 15 days after fertilization. As a result, the pattern pigment distribution was inherited by a single gene having two alleles, and which was basically followed by the principle of dominace and segregaion in Mendelian inheritance. A locus for pigment pattern turned out to be located on an autosomal chromosome. Average survival rates estimated from the various crosses between, and within, wild type zebrafish and leopard danio were as follows ; they were 80.6${\pm}$4.8% from the crosses within leopard danios ($L{\times}L$), 70.6${\pm}$4.2% between leopard female and wild type male ($L{\times}Z$), 73.2${\pm}$2.0% between wild type female and leopard male ($Z{\times}L$), and 83.8${\pm}$6.7% within wild type zebrafish ($Z{\times}Z$). These results indicated that the leopard danio, which were reported as an "aquarium morph" several decades ago and also known as a mutant in pigmentation pattern of the wild type zebrafish, seemed to be genetically stable like the wild type of zebrafish.zebrafish.

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Selection of a Triploid Poplar by Flow Cytometric Analysis and Growth Characteristics of its in vitro Grown Plants (유세포 분석을 통한 현사시나무 3배체 선발 및 계통별 기내생장 특성)

  • Bae, Eun-Kyung;Lee, Hyoshin;Lee, Jae-Soon;Noh, Eun-Woon
    • Journal of Korean Society of Forest Science
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    • v.101 no.2
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    • pp.291-296
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    • 2012
  • Triploids are a useful tool for biomass production and molecular breeding of trees with a long life span. Triploids of the poplar 'Hyunsasi' (Populus alba ${\times}$ P. glandulosa) have been developed by crossing between female diploids and a male tetraploid. The tetraploid was developed around the 1970s at Korea Forest Research Institute by colchicine-induced chromosome doubling. Seedlings of the $F_1$ generation were analyzed using flow cytometry to verify their ploidy status. The mean relative fluorescence index of 3 F1 poplars, labeled as Line- 1, Line-17, Line-18, were approximately 1.5 times higher than those of diploid poplars, and the results clearly indicated that they were triploids. The phenotype of the F1 poplars included larger leaves and thicker stem than diploids, and abnormal leaf morphology, especially in the triploid 'Line-18'. Three triploid lines developed roots more slowly and had less roots than diploid. However, 3 poplar cytotypes (2x, Line-1, Line-17) rooted within 10 days on MS medium. In contrast, compared with the 3 cytotypes, the Line-18 showed about 80% and 70% in the rooting rate and the number of roots. The triploid poplars could be directly utilized for biomass production and with their sterility, they could serve as basic material for genetic transformation. In addition, flow cytometric analysis proved to be an effective and reliable method for screening forest trees for their ploidy level.

Production of Supermale (YY) and Superfemals (${\Delta}$YY) Nile Tilapia (Oreochromis niloticus) by Sex Reversal and Chromosome Set Manipulation -III. Comparative Study on Male Seed Production Traits of Supermale and Superfemale (성전환 및 염색체 공학 기법을 이용한 초수컷(YY) 및 초암컷(${\Delta}$YY) 나일틸라피아(Oreochromis niloticus) 생산 -III. 초수컷 및 초암컷의 수컷 자손 생산능력 비교)

  • 노충환;남윤권;김동수
    • Journal of Aquaculture
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    • v.13 no.4
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    • pp.325-330
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    • 2000
  • For development of all male seed production at hatchery scale, a comparative study was made on the seed production traits of supermale (IT - t) and superfemale (IT - L1 ~) Nile tilapia, Oreochromis niloticus. Supermales were crossed with normal females (XX- f) and the superfemales with normal males (XY - t ) or sex reversed males (XX- L1 t); progeny survival of these crossings and sex ratio were evaluated. Hatching success of the eggs, fertilized by the supermale was significantly lower than that by the normal male. Over 95-99 % progenies sired by crossing supermales with normal females were males, while 52-55 % progenies alone were males with the cross of normal males and normal females. Hatching success and survival of alevins were significantly higher for the progenies of the crosses between superfemales and sex reversed males than those resulting from the crosses between superfemales and normal males. However, there was no significant difference in the sex ratio among the progenies of these crosses. Therefore, crossings of superfemales with sex reversed males provide the highest percentage of survival and male progenies.

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Prenatal diagnosis of the spinal muscular atrophy type I using genetic information from archival slides and paraffin-embedded tissues

  • Choi, Soo-Kyung;Cho, Eun-Hee;Kim, Jin-Woo;Park, So-Yeon;Kim, Young-Mi;Ryu, Hyun-Mee;Kang, Inn-Soo;Jun, Jung-Young;Chi, Je-G.
    • Journal of Genetic Medicine
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    • v.2 no.2
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    • pp.53-57
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    • 1998
  • Spinal muscular atrophy (SMA) type I is a common severe autosomal recessive inherited neuromuscular disorder that has been mapped to chromosome 5q11.2-13.3. The survival motor neuron (SMN) gene, a candidate gene, is known to be deleted in 96% of patients with SMA type I. Presently, PCR and single strand conformation polymorphism (PCR-SSCP) analyses have been made possible for application to both archival slides and paraffin-embedded tissues. Archival materials represent valuable DNA resources for genetic diagnosis. We applied these methods for the identification of SMN gene of SMA type I in archival specimens for the prenatal diagnosis. In this study, we performed the prenatal diagnosis with chorionic villus sampling (CVS) cells on two women who had experienced neonatal death of SMA type I. DNA extraction was done from archival slide and tissue materials and PEP-PCR was performed using CVS cells. In order to identify common deletion region of SMN and neuronal apoptosis-inhibitory protein (NAIP) genes, cold PCR-SSCP and PCR-restriction site assay were carried out. Case 1 had deletions of the exons 7 and 8, and case 2 had exon 7 only on the telomeric SMN gene. Both cases were found to be normal on NAIP gene. These results were the same for both CVS and archival biopsied specimens. In both cases, the fetuses were, therefore, predicted to be at very high risk of being affected and the pregnancy were terminated. These data clearly demonstrate that archival slide and paraffin-embedded tissues can be a valuable source of DNA when the prenatal genetic diagnosis is needed in case any source for genetic analysis is not readily available due to previous death of the fetus or neonate.

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