• Title/Summary/Keyword: Chromosome 6p

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Synthesis, Antibacterial, Docking and Anticancer Evaluation of N-Substituted Benzoyl Derivatives

  • Arthi, P.;Shobana, S.;Srinivasan, P.;Rahiman, A. Kalilur
    • Journal of Integrative Natural Science
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    • v.7 no.4
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    • pp.241-252
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    • 2014
  • A series of N-benzoylated ligands incorporating three different benzoyl groups 2,2'-(benzoyliminodiethylene)-4-substituted phenols ($L^{1,4,7}$), 2,2'-(4-nitrobenzoyliminodiethylene)-4-substituted phenols ($L^{2,5,8}$) and 2,2'-(3,5-dinitrobenzoyliminodiethylene)-4-substituted phenols ($L^{3,6,9}$) were synthesized and characterized by IR, $^1H$ NMR, $^{13}C$ NMR and mass spectroscopy. The In vitro antibacterial activity of investigated ligands were tested against human pathogenic bacteria such as four Gram (-) Enterococcus faecalis, Pseudomonas aeruginosa, Staphylococcus aureus, Vibrio cholera, Vibrio harveyi and two Gram (+) Staphylococcus aureus, Streptococcus mutans. Furthermore, docking studies were undertaken to gain insight into the possible binding mode of these compounds with the binding site of the topoisomerase II (PDB: 4FM9) enzyme which is involved in DNA superhelicity and chromosome seggregation. The N-benzoylated derivatives $L^{5,7,8}$ have significant anticancer activity as Topoisomerase inhibitors. The ligands $L^5$ and $L^8$ were tested for their anticancer activity against human liver adenocarcinoma (HepG2) cell line with the MTT assay.

Molecular and Cytogenetic Analysis of Transgenic Plants of Rice(Oryza sativa L.) Produced by Agrobacterium-mediated Transformation

  • Cho, Joon-Hyeong;Kim, Yong-Wook
    • Plant Resources
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    • v.7 no.1
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    • pp.39-46
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    • 2004
  • To demonstrate the importance of transformation efficiency in independent event, molecular and cytogenetic analysis were conducted with genomic DNA and chromosome of transgenic plants produced by Agrobacterium tumefeciens LBA4404 (pSBM-PPGN: gusA and bar). Selection ratios of putative transgenic calli were similar in independent experiments, however, transformation efficiencies were critically influenced by the type of regeneration media. MSRK5SS-Pr regeneration mediun, which contains 5 mgL$^{-1}$ kinetin, 2% (w/v) sucrose in combination with 3% (w/v) sorbitol, and 500 mgL$^{-1}$ proline, was efficient to produce transgenic plant of rice from putative transgenic callus in the presence of L-phosphinotricin (PPT). With MSRK5SS-Pr medium, transformation efficincies of Nagdongbyeo were significantly enhanced from 3.7% to 6.3% in independent callus lines arid from 7.3% to 19.7% in plants produced, respectively. Stable integration and expression of bar gene were confirmed by basta herbicide assay, PCR amplification and Southern blotting of bar gene, and fluorescence in situ hybridization (FISH) analysis using pSBM-PPGN as a probe. In Southern blot analysis, diverse band patterns were observed in total 44 transgenic plants regenerated from 20 independent PPT resistant calli showing from one to five copies of T-DNA segments, however, the transformants obtained from one callus line showed the same copy numbers with the same fractionized band patterns.

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Clinical utility of chromosomal microarray analysis to detect copy number variants: Experience in a single tertiary hospital

  • Park, Hee Sue;Kim, Aryun;Shin, Kyeong Seob;Son, Bo Ra
    • Journal of Genetic Medicine
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    • v.18 no.1
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    • pp.31-37
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    • 2021
  • Purpose: To summarize the results of chromosomal microarray analysis (CMA) for copy number variants (CNVs) detection and clinical utility in a single tertiary hospital. Materials and Methods: We performed CMA in 46 patients over the course of two years. Detected CNVs were classified into five categories according to the American College of Medical Genetics and Genomics guidelines and correlated with clinical manifestations. Results: A total of 31 CNVs were detected in 19 patients, with a median CNV number per patient of two CNVs. Among these, 16 CNVs were classified as pathogenic (n=3) or likely pathogenic (LP) (n=11) or variant of uncertain significance (n=4). The 16p11.2 deletion and 16p13.11 deletion classified as LP were most often detected in 6.5% (3/46), retrospectively. CMA diagnostic yield was 24.3% (9/37 patients) for symptomatic patients. The CNVs results of the commercial newborn screening test using next generation sequencing platforms showed high concordance with CMA results. Conclusion: CMA seems useful as a first-tier test for developmental delay with or without congenital anomalies. However, the classification and interpretation of CMA still remained a challenge. Further research is needed for evidence-based interpretation.

Cytogenetic Analysis of Bagrid Catfish, Pseudobagrus fulvidraco(Teleostomi : Siluriformes) (동자개, Pseudobagrus fulvidraco(Teleostomi : Siluriformes)의 세포유전학적 연구)

  • Park, In-Seok;Lee, Chung-Lyul
    • Korean Journal of Ichthyology
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    • v.8 no.2
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    • pp.10-15
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    • 1996
  • The chromosome numbers of bagrid catfish, Pseudobagrus fulvidraco was 52, nine pairs (No. 1 to 9) were metacentrics with the range of relative length 2.89~6.22 and arm ratio 1.09~1.58 ; thirteen pairs (No. 10 to 22) were submetacentrics with the range of relative length 2.88~5.88 and arm ratio 1.80~3.65 ; and all other pairs (No. 23 to 26) were acrocentrics with the range of relative length 2.63~3.30 and arm ratio 9.01~10.67, and fundamental number was 104. Heteromorphic sex chromosomes were not found. There was not exist significant difference in resultant erythrocyte measurements and parameters between female and male (p<0.05). The mean sizes of cell and nucleus, were $11.03{\times}9.67{\mu}m$ and $4.18{\times}3.66{\mu}m$ respectively. The number of erythrocytes of both females and males were $6{\sim}7{\times}10^5/ml$. Gill tissues from diploid individuals had cells with one or two nucleoli.

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The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings (오누이에서 발생한 derivative (8)t(7;8)(q22;p23.3) 염색체 이상 증후군의 임상 증상)

  • Kim, Young Ok;Cho, Young Kuk;Song, En Song;Han, Dong Kyun;Choi, Ic Sun;Baek, Hee Jo;Kim, Chan Jong;Woo, Young Jong;Choi, Young Youn
    • Clinical and Experimental Pediatrics
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    • v.51 no.11
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    • pp.1241-1244
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    • 2008
  • We report on 2 siblings with a partial trisomy of 7q ($7q22{\rightarrow}qter$) and concomitant partial monosomy of 8p ($8p23.3{\rightarrow}pter$), which were shown by FISH using probes located at the telomere region of each chromosome. All the balanced translocation carriers (father and a sister) in this family had a normal phenotype. The 2 siblings with the same abnormal karyotype had similar multiple congenital anomalies and dysmorphic features. During the follow-up, the first male patient died in the neonatal period, but the female sibling is still alive at 2 years and 6 months of age.

Chromosomal Localization and Distribution of the Telomeric DNA in Cattle and Pigs (소, 돼지 염색체의 telomeric DNA 분포 양상)

  • Sohn, S.H.;Multani, A.S.;Pathak, S.;Cho, E.J.;Ha, H.B.
    • Journal of Animal Science and Technology
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    • v.46 no.4
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    • pp.547-554
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    • 2004
  • Telomeres are nucleoprotein structures at the ends of chromosomes consisting of tandem repeat sequences of . (TTAGGG)n. Telomeres serve as guardians of the genome, protect individual chromosomes within the nucleus, and help in meiotic pairing of homologous chromosomes. To investigate the telomere distributions of cattle and pig chromosomes, fluorescence in situ hybridization(FISH) was carried out on metaphase spreads of in vitro fibroblast cultures from Holstein and Landrace using a human telomeric DNA repeat probe. Results indicate that the distinct double spots on both ends of chromosomes of cattle and pigs were observed. In cattle, there was a random variation in the intensity of telomere signals among chromosomes. In pigs, an interstitial telomeric signal was observed on the chromosome 6q1 of all the cells examined. According to quantitative fluorescence in situ hybridization(Q-FISH) analysis, some chromosomes had consistently much more telorneres at one end of chromosomes. In general, both species had consistently much more telomeres at q-end than p-end on most of chromosomes. The relative amount of telomeres on bovine chromosomes was higher than that on pig chromosomes. In additions, Y chromosome had the highest relative amount of telorneres in cattle and pigs.

Feasibility as a Laundry Detergent Additive of an Alkaline Protease from Bacillus clausii C5 Transformed by Chromosomal Integration (Chromosomal Integration에 의해 제조한 Bacillus clausii C5 유래의 alkaline protease의 세제 첨가제 응용성)

  • Joo, Han-Seung;Choi, Jang Won
    • KSBB Journal
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    • v.27 no.6
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    • pp.352-360
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    • 2012
  • Bacillus clausii I-52 which produced SDS- and $H_2O_2$-tolerant extracellular alkaline protease (BCAP) was isolated from heavily polluted tidal mud flat of West Sea in Incheon, Korea and stable strain (transformant C5) of B. clausii I-52 harboring another copy of BCAP gene in the chromosome was developed using the chromosome integration vector, pHPS9-fuBCAP. When investigated the production of BCAP using B. clausii transformant C5 through pilot-scale submerged fermentation (500 L) at $37^{\circ}C$ for 30 h with an aeration rate of 1 vvm and agitation rate of 250 rpm, protease yield of approximately 105,700 U/mL was achieved using an optimized medium (soybean meal 2%, wheat flour 1%, sodium citrate 0.5%, $K_2HPO_4$ 0.4%, $Na_2HPO_4$ 0.1%, NaCl 0.4%, $MgSO_4{\cdot}7H_2O$ 0.01%, $FeSO_4{\cdot}7H_2O$ 0.05%, liquid maltose 2.5%, $Na_2CO_3$ 0.6%). The enzyme stability of BCAP was increased by addition of polyols (10%, v/v) and also, the stabilities of BCAP towards not only the thermal-induced inactivation at $50^{\circ}C$ but also the SDS and $H_2O_2$-induced inactivation at $50^{\circ}C$ were enhanced. Among the polyols examined, the best result was obtained with propylene glycol (10%, v/v). The BCAP supplemented with propylene glycol exhibited extreme stability against not only the detergent components such as ${\alpha}$-orephin sulfonate (AOS) and zeolite but also the commercial detergent preparations. The granulized enzyme of BCAP was prepared with approximately 1,310,000 U/g of granule. Wash performance analysis using EMPA test fabrics revealed that BCAP granule exhibited high efficiency for removal of protein stains in the presence of anionic surfactants as well as bleaching agents. When compared to Savinase 6T$^{(R)}$ and Everlase 6T$^{(R)}$ manufactured by Novozymes, BCAP under this study probably showed similar or higher efficiency for the removal of protein stains. These results suggest that the alkaline protease produced from B. clausii transformant C5 showing high stability against detergents and high wash performance has significant potential and a promising candidate for use as a detergent additive.

Pathway Analysis of Metabolic Syndrome Using a Genome-Wide Association Study of Korea Associated Resource (KARE) Cohorts

  • Shim, Unjin;Kim, Han-Na;Sung, Yeon-Ah;Kim, Hyung-Lae
    • Genomics & Informatics
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    • v.12 no.4
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    • pp.195-202
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    • 2014
  • Metabolic syndrome (MetS) is a complex disorder related to insulin resistance, obesity, and inflammation. Genetic and environmental factors also contribute to the development of MetS, and through genome-wide association studies (GWASs), important susceptibility loci have been identified. However, GWASs focus more on individual single-nucleotide polymorphisms (SNPs), explaining only a small portion of genetic heritability. To overcome this limitation, pathway analyses are being applied to GWAS datasets. The aim of this study is to elucidate the biological pathways involved in the pathogenesis of MetS through pathway analysis. Cohort data from the Korea Associated Resource (KARE) was used for analysis, which include 8,842 individuals (age, $52.2{\pm}8.9years$ ; body mass index, $24.6{\pm}3.2kg/m^2$). A total of 312,121 autosomal SNPs were obtained after quality control. Pathway analysis was conducted using Meta-analysis Gene-Set Enrichment of Variant Associations (MAGENTA) to discover the biological pathways associated with MetS. In the discovery phase, SNPs from chromosome 12, including rs11066280, rs2074356, and rs12229654, were associated with MetS (p < $5{\times}10^{-6}$), and rs11066280 satisfied the Bonferroni-corrected cutoff (unadjusted p < $1.38{\times}10^{-7}$, Bonferroni-adjusted p < 0.05). Through pathway analysis, biological pathways, including electron carrier activity, signaling by platelet-derived growth factor (PDGF), the mitogen-activated protein kinase kinase kinase cascade, PDGF binding, peroxisome proliferator-activated receptor (PPAR) signaling, and DNA repair, were associated with MetS. Through pathway analysis of MetS, pathways related with PDGF, mitogen-activated protein kinase, and PPAR signaling, as well as nucleic acid binding, protein secretion, and DNA repair, were identified. Further studies will be needed to clarify the genetic pathogenesis leading to MetS.

Draft genome sequences of Pseudomonas syringae pv. syringae strain WSPS007 causing bacterial shoot blight on apple (사과가지마름병원세균 Pseudomonas syringae pv. syringae WSPS007 균주의 유전체 해독)

  • Lim, Yeon-Jeong;Ryu, Duck Kyu;Kang, Min Kyu;Jeon, Yongho;Park, Duck Hwan
    • Korean Journal of Microbiology
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    • v.55 no.1
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    • pp.80-82
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    • 2019
  • Pseudomonas syringae pv. syringae strain WSPS007 was isolated from infected twigs (Malus pumila) in 2013 in Yeongju, Gyeongbuk Province, Republic of Korea. Here, we report the draft genome sequence of WSPS007 with a chromosome size of 6,238,498 bp (59.04% G+C content). The genome comprises 5,379 CDS, 16 rRNA genes, and 65 tRNA genes. The P. syringae pv. syringae strain WSPS007 genome possesses an ice-nucleating activation (INA) gene and an antifreeze operon that may be related to frost damage by this pathogen. Thus, the genome sequence determined in this study will be useful in understanding the relationship between the outbreak of bacterial shoot blight disease and frost damage in northern Gyeongbuk Province.

A case of familial X-linked thrombocytopenia with a novel WAS gene mutation

  • Lee, Eu Kyoung;Eem, Yeun-Joo;Chung, Nack-Gyun;Kim, Myung Shin;Jeong, Dae Chul
    • Clinical and Experimental Pediatrics
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    • v.56 no.6
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    • pp.265-268
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    • 2013
  • Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case of a 4-year-old boy with a history of marked thrombocytopenia since birth, who presented with recurrent herpes simplex infection and late onset of eczema. Examination of his family history revealed that older brother, who died from intracranial hemorrhage, had chronic idiopathic thrombocytopenia. Therefore, we proceeded with genetic analysis and found a new deletion mutation in the WAS gene: c.858delC (p.ser287Leufs$^*21$) as a hemizygous form.