• Title/Summary/Keyword: Chromosome deletion

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Regulatory Mechanism of Lysine Biosynthetic Genes in Escherichia coli

  • Joe, Min-Ho;Mun, Hyo-Young;Hong, Mi-Ju;Kim, Seong-Jun;Park, Young-Hoon;Rhee, Sang-Ki;Kwon, Oh-Suk
    • Proceedings of the Korean Society for Applied Microbiology Conference
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    • 2004.06a
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    • pp.236-241
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    • 2004
  • In Escherichia coli, L-lysine biosynthetic pathway is composed of nine enzymatic reactions. It has been well established that most of the lysine biosynthetic genes are regulated by the lysine availability, even though they are all scattered around the chromosome without forming any multigenic operon structure. However, no transcriptional regulatory mechanism has been identified except for the activation of lysA gene by the LysR. In this study, changes in transcriptome profiles of wild type cells and lysR deletion mutant cells grown in the absence or presence of lysine were investigated by using DNA microarray technique. Microarray data analysis revealed three groups of genes whose expression varies depending on the availability of lysine or LysR or both. To further examine the regulatory patterns of lysine biosynthetic genes, lacZ operon fusions were constructed and their expression was measured under various conditions. Obtained results strongly suggest that there is an additional regulatory mechanism which senses the lysine availability and coordinates gene expression.

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Functional Dissection of Sigma-like Domain in Antibiotic Regulatory Gene, afsR2 in Streptomyces lividans

  • Kim Chang-Young;Park Hyun-Joo;Kim Eung-Soo
    • Journal of Microbiology and Biotechnology
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    • v.16 no.9
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    • pp.1477-1480
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    • 2006
  • The 63-amino-acid-encoding afsR2 is a global antibiotics-stimulating regulatory gene identified from the chromosome of Streptomyces lividans. To dissect a putative functional domain in afsR2, several afsR2-derivative deletion constructs were generated and screened for the loss of actinorhodin-stimulating capability. The afsR2-derivative construct missing a 50-bp C-terminal region significantly lost its actinorhodin-stimulating capability in S. lividans. In addition, site-directed mutagenesis on amino acid positions of #57-#61 in a 50-bp C-terminal region, some of which are conserved among known Sigma 70 family proteins, significantly changed the AfsR2's activity. These results imply that the C-terminal region of AfsR2 is functionally important for antibiotics-stimulating capability and the regulatory mechanism might be somehow related to the sigma-like domain present in the C-terminal of AfsR2.

Characterization of HRD3, a Schizosaccharomyces pombe Gene Involved in DNA Repair and Cell Viability

  • Choi, In-Soon
    • Animal cells and systems
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    • v.7 no.2
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    • pp.159-164
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    • 2003
  • The RAD3 gene of Saccharomyces cerevisiae is required for excision repair and is essential for cell viability. The RAD3 encoded protein possesses a single stranded DNA-dependent ATPase and DNA and DNA-RNA helicase activities. To examine the extent of conservation of structure and function of a S. pombe RAD3 during eukaryotic evolution, the RAD3 homolog gene was isolated by screening of genomic DNA library. The isolated gene was designated as HRD3 (homolog of RAD3 gene). Southern blot analysis confirmed that S. pombe chromosome contains the same DNA as HRD3 gene and this gene exists as a single copy in S. pombe. The transcript of 2.8 kb was detected by Northern blot analysis, The level of transcripts increased by ultraviolet (UV) irradiation, indicating that HRD3 is one of the UV-inducible genes in S. pombe. Furthermore, the predicted partial sequence of HRD3 protein has 60% identity to S. cerevisiae RAD3 gene. This homology was particularly striking in the regions identified as being conserved in a group of DNA helicases. Gene deletion experiments indicate that the HRD3 gene is essential for viability and DNA repair function. These observations suggest evolutionary conservation of other protein components with which HRD3 might interact in mediating its DNA repair and viability functions.

Antimutagenic Effect of Genistein toward Environmental Mutagen (환경성 변이원에 대한 Genistein의 항돌연변이성)

  • 윤희선;유미애;박건영;이원호
    • Journal of Environmental Science International
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    • v.8 no.5
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    • pp.569-574
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    • 1999
  • This study was carried out to determine the antimutagenic effects of genistein on the somatic mutagenicity induced by aflatoxin B1 (${AFB}_1$), using Drosophila wing spot test system. Mutagen alone or mutagen with genistein were administered to the heterozygous(mwh/+) third instar larvae by feeding, and somatic cell mutations were detected in adult fly wing hairs. Genistein did not show any mutagenicity with the feeding concentrations of 5~15% in the test system. As the feeding concentrations of genistein increased, genistein inhibited the mutagenicity induced by AFB1 (14.6%~62.2% inhibition rate), while as the concentrations of AFB1 increased, small much spots that arise mostly from chromosome deletion and nondisjunction were more strongly suppressed by genistein than the large mwh spots from chromosomal recombination. In each group of different AFB1 concentrations, the rate of inhibition for total mwh spots was dependent on the dose of genistein. These results indicate that genistein have inhibitory effect on the mutagenicity induced by a mtagen, ${AFB}_1$. It seems to suggest that genistein may exert inhibitory effects to mutagenic and/or carcinogenic properties of DNA damaging agents.

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Dental Treatment of a Pediatric Patient with Wolff-Hirschorn Syndrome under General Anesthesia -A Case Report- (Wolff-Hirschorn Syndrome (WHS) 환아의 치과 치료 -증례보고-)

  • Shin, Seung-Woo;Kim, Jong-Soo;Kim, Seung-Oh
    • Journal of The Korean Dental Society of Anesthesiology
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    • v.11 no.1
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    • pp.51-54
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    • 2011
  • Wolff-Hirschorn syndrome is a condition that is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. A 9-year-old girl was brought to the clinic with a chief complaint of dental examination. The child was diagnosed as WHS at Samsung medical center. The child was under Sodium valproate, Atrovastatin medication for epilepsy, hyperlipidemia and had a history of heart surgery. So prophylactic antibiotics were recommended. The child was mentally retarded and had seizure so it was difficult to manage her behavior effectively. Thus dental treatment was carried out under general anesthesia. For prompt sedation induction we used 8% sevoflurane shortly. This report presents the case of a 9-year-old girl with WHS, who has received treatment for extensive caries under general anesthesia.

Dental Treatment of Children with CATCH 22 Syndrome: Case Report (CATCH 22 증후군을 가진 어린이의 치과치료)

  • Kim, Mi Sun;Lee, Soo Eon;Ahn, Hyo Jung;Park, Jae-Hong;Choi, Sung Chul
    • Journal of The Korean Dental Society of Anesthesiology
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    • v.13 no.1
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    • pp.13-18
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    • 2013
  • CATCH 22 syndrome is a one of the most common chromosome microdeletion syndrome with multiple organ anomalies in humans, with an incidence of approximately 1:4,000 to 1:5,000 live births. It is caused by a microdeletion of 1.5 to 3.0 megabases on the long arm of chromosome 22. The phenotypic spectrum of this disorder is wide and various. A 19-year-old patient who showed delayed growth and development (Height; 110 cm, Weight; 18 kg) was referred to our department for the treatment of dental cavities. She was diagnosed as CATCH 22 syndrome in 2004. Physical examination revealed hypertelorism, a short philtrum, thick reflected lips and a small mouth. She underwent cleft palate surgery at 1 year of age and heart valve surgery due to the cardiovascular abnormality at 13 years of age. Convulsive seizures had persisted until 5 years ago but are well controlled at present. Oral examination showed poor oral hygiene, crowding, prolonged retention on #65, 75 and dental cavities on #16, 21, 65, 26, 36, and 46. Cavity treatment and prophylaxis were performed under general anesthesia. Also continuous follow-up checks have been carrying out with the periodic prophylaxis and dental home education. Problems with numerous cavities and gingivitis which can lead to specific risks are common for CATCH 22 syndrome patients. It is therefore of great importance that these patients are referred to foremost physician and dental specialist for the oral care. In addition, preventive treatment targeting the risk of dental cavities and gingivitis is especially important and, as the syndrome involves many different medical problems, the dental treatment should be carried out in collaboration with the patient's physician.

Hypersensitivity of Somatic Mutations and Mitotic Recombinations Induced by Heterocyclic amines and Aflatoxin $B_1$ in Transgenic Drosophila (형질전환 초파리에서 Heterocyclic Amines와 Aflatoxin $B_1$에 의한 체세포 돌연변이 유발의 고감수성에 관한 연구)

  • 최영현;유미애;이원호
    • Korean journal of applied entomology
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    • v.35 no.4
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    • pp.315-320
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    • 1996
  • The effects of 2-arnino-3-methyIimidazo[4,5-fq]u inoline (IQ), 2-amino-6dimethyl-dipyrido[l,2-a;3',2'-d] imidazole (Glu-P-1) and aflatoxin B1 (AFBI) on the mitotic recombinations and somatic chromosome mutations were investigated using the transgenic Drosophila bearing a chimeric gene consisting of a promoter region of Drosophila actin 5C gene and rat DNA polymerase $. For investigating mitotic recombinations and the somatic chromosome mutations, the heterozygous (mwhl+) strain possessing or lacking transgene pol P was used. The spontaneous frequency of small mwh spots, due to deletion or nondisjunction etc., in the non-transgenic w strain and the transgenic plpol $1-130 strain was 0.351 and 0.606, respectively. The spontaneous frequency (0.063) of large mwh spots, arising mostly from somatic recombination between the centromere and the locus mwh, in the transgenic plpol $1-130 strain, was about three times higher than that (0.021) of the non-transgenic w strain. The mutant clone frequencies of two types induced by two heterocyclic mines (IQ and Glu-P-1) and AFBl in the transformant pbol PI-130 were two or three times higher than those in the host strain w. These mean that rat DNA polymerase P participates at least in the somatic chromosome mutations and mitotic recombination processes. And the present results suggest that the transgenic Drosophl!~ used in this study can be used as a hypersensitive, in vivo short-term assaying system for various environmental mutagens.

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Chromosomal analyses of 4,500 cases of the peripheral blood : An experience in a single hospital for 25 years (말초혈액을 이용한 핵형 분석 4,500례 : 단일기관에서의 25년간의 경험)

  • Seo, Hye-Eun;Lee, Ji Hye;Kim, Ji Yoon;Lee, Dong Ha;Lee, Heung Kyo;Lee, Kun Soo
    • Clinical and Experimental Pediatrics
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    • v.50 no.9
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    • pp.875-881
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    • 2007
  • Purpose : Chromosome analysis is important in genetic study and genetic counseling. This study was performed to evaluate the type and incidence of chromosome abnormalities in a single hospital for 25 years. Methods : Chromosome analyses were performed on peripheral blood lymphocytes, obtained from 4,856 patients with suspected chromosomal aberrations, referred to cytogenetic laboratory in Department of Pediatrics, Kyungpook National University Hospital from May 1981 to October 2005. Results : We analyzed 4,567 cases. Children were 3,014 cases (66.0%) and adult were 1,553 cases (34.0 %). The most common purpose of the chromosomal analysis was growth and developmental abnormality in children and infertility in adults. Total chromosomal aberration rate was 16.9% (770/4,567). Among those cases, the numerical abnormalities were 12.2% (558 cases), the structural abnormalities were 4.1% (187 cases), and others were 0.5% (25 cases). The relative frequencies of autosomal abnormalities were 6.4% (294 cases) in Down syndrome; 0.2% (7 cases) in Edwards syndrome; 0.1% (4 cases) in Patau syndrome; 0.2% (10 cases) in other abnormalities, of sex chromosome, 2.9% (131 cases) in Klinefelter syndrome; 2.2% (99 cases) in Turner syndrome; 0.2% (8 cases) in 47, XXX; 0.1% (3 cases) in 47, XYY. Among the structural abnormalities, translocation was 1.8% (84 cases), inversion was 0.8% (37 cases), deletion was 0.4% (17 cases), and insertion was 0.3% (13 cases), in order of frequency. Conclusion : In this study, the type, incidence and distribution of cytogenetic abnormalities by karyotype were reviewed. We hope that our study could be used as a basic information on the diagnosis, treatment and genetic counseling for chromosome abnormalities in Korea.

CARIES TREATMENT OF A 4-YEAR-OLD FEMALE PATIENT WITH DE GROUCHY SYNDROME UNDER GENERAL ANESTHESIA : A CASE REPORT (de Grouchy syndrome 환아의 전신마취 하 치아우식 치료 증례 보고)

  • Song, Jisoo;Lee, Euj-Ji;Shin, Teo-Jeon;Hyun, Hong-Keun;Kim, Jung-Wook;Jang, Ki-Taeg;Lee, Sang-Hoon;Kim, Chong-Chul;Kim, Young-Jae
    • The Journal of Korea Assosiation for Disability and Oral Health
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    • v.9 no.1
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    • pp.42-45
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    • 2013
  • De Grouchy syndrome or Distal 18q- is a genetic condition caused by a deletion of genetic material within chromosome 18, and the deletion involves the distal section of 18q. It causes a wide range of medical and developmental concerns. Congenital orthopedic anomalies, cleft lip and palate are relatively common. People with distal 18q- are often small for their age. Most individuals with distal 18q- fall in the mild to moderate range of intellectual disability. Strabismus and nystagmus, changes in the optic nerve as well as colobomas are also fairly common. People with distal 18q- frequently have conductive and/or sensorineural hearing loss. At present, treatment for distal 18q- is only symptomatic. This article presents a case report: Caries treatment of a 4-year-old female patient with de Grouchy syndrome under general anesthesia. The special considerations of dental care, especially caries treatment for the patient with de Grouchy syndrome are discussed.

Gene Structure and Function of fkhE, a Forkhead Gene in a Filamentous Fungus Aspergillus nidulans (Aspergillus nidulans forkhead 유전자 fkhE의 구조와 기능 분석)

  • Park, Mi-Hye;Kim, Hyoun-Young;Kim, Jong-Hwa;Han, Kap-Hoon
    • The Korean Journal of Mycology
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    • v.38 no.2
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    • pp.160-166
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    • 2010
  • A homothallic filamentous fungus Aspergillus nidulans has been used as the a model organism for studying growth and development for eukaryotic system. Various studies about specific transcription factors have been performed for elucidating the molecular mechanisms of growth, asexual and sexual developmental processes. Among them, the fkhE gene (AN2025.3) is located in chromosome VII and contains an ORF encoding 718 amino acid polypeptide intervening with two short introns. The cDNA sequencing revealed that at least four types of alternative splicing events were occurred when the fkhE gene was transcribed. The putative FkhE polypeptide contains a conserved forkhead domain and a bipartite nuclear localization signal at it's N-terminus and C-terminus, respectively. Deletion of fkhE resulted in impaired conidiophore formation in a solid medium. However, the sexual developmental process or cleistothecia formation was normal. Furthermore, fkhE deletion mutant produced conidiophores and conidia under the submerged culture, indicating that the fkhE gene is involved in asexual developmental process similar to the fkhF gene.