• Title/Summary/Keyword: human chromosome

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Coexpression of Protein Disulfide Isomerase (PDI) Enhances Production of Kringle Fragment of Human Apolipoprotein(a) in Recombinant Saccharomyces cerevisiae

  • Cha Kwang-Hyun;Kim Myoung-Dong;Lee Tae-Hee;Lim Hyung-Kweon;Jung Kyung-Hwan;Seo Jin-Ho
    • Journal of Microbiology and Biotechnology
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    • v.16 no.2
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    • pp.308-311
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    • 2006
  • In an attempt to increase production of LK8, an 86-amino-acid kringle fragment of human apolipoprotein(a) with three disulfide linkages, protein disulfide isomerase (PDI) was coexpressed in recombinant Saccharomyces cerevisiae harboring the LK8 gene in the chromosome. Whereas overexpression of the LK8 gene without coexpressing PDI was detrimental to both host cell growth and LK8 production, coexpression of PDI increased the LK8 production level by 2.5-fold in batch cultivation and 5.0-fold in fed-batch cultivation compared with the control strain carrying only the genomic PDI gene.

A Phylogenetic Analysis for Hox Linked Gene Families of Vertebrates

  • Kim, Sun-Woo;Jung, Gi-La;Lee, Jae-Hyoun;Park, Ha-Young;Kim, Chang-Bae
    • Animal cells and systems
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    • v.12 no.4
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    • pp.261-267
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    • 2008
  • The human chromosomes 2, 7, 12 and 17 show genomic homology around Hox gene clusters, is taken as evidence that these paralogous gene families might have arisen from a ancestral chromosomal segment through genome duplication events. We have examined protein data from vertebrate and invertebrate genomes to analyze the phylogenetic history of multi-gene families with three or more of their representatives linked to human Hox clusters. Topology comparison based upon statistical significance and information of chromosome location for these genes examined have revealed many of linked genes coduplicated with Hox gene clusters. Most linked genes to Hox clusters share the same evolutionary history and are duplicated in concert with each other. We conclude that gene families linked to Hox clusters may be suggestion of ancient genome duplications.

The induction of Micronucleus and Aneuploidy in human lymphocytes by Hydroquinone and its association with Genetic Polymorphisms of CYP1A1, GSTM1, GSTT1, NQO1 gene

  • Chung, Eun-Jung;Kim, Tae-Yon;Kim, Jin-Sik;Kim, Yang-Ji;Cho, Yoon-Hee;Chung, Hai-Won
    • Proceedings of the Korean Society of Toxicology Conference
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    • 2002.11b
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    • pp.176-176
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    • 2002
  • In order to investigate whether the induction of micronucleus and aneuploidy in human lymphocytes by Hydroquinone (HQ) is associated with genetic polymorphisms of CYP1A1, GSTM1, GSTT1, NQO1 gene, the cytokinesis-block micronucleus (CBMN) assay in combination with fluorescence in situ hybridization (FISH) technique using specific centromeric probes for chromosome 7 and 8 and PCR-RFLP based genotyping for 30 healthy people were performed.(omitted)

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Production and Characterization of Human Immunodeficiency Virus Integrase Fused with a Maltose-Binding Protein (맥아당결합 단백질에 융합된 면역결핍 바이러스 인테그라제의 생산 및 분석)

  • Kim, Do-Jin;Oh, You-Take;Shin, Cha-Gyun
    • YAKHAK HOEJI
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    • v.42 no.1
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    • pp.46-52
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    • 1998
  • Retroviral integrase is required for integration of viral DNA into the host cell chromosome. Human immunodeficiency virus type-1 integrase was partially purified as a part of a fusion protein linked to a maltose-binding protein and characterized in terms of an endonucleolytic activity. The concentration of the fusion protein purified through an amylose column was about 12mg/ml. Indicating that the solubility of the fusion protein is highly increased by the presence of a maltose-binding protein, considering that the integrase protein alone is poorly solubilized. The endonucleolytic activity of the fusion protein was detected at 0.1 to 1.OmM $Mn^{++}$ ion, but not at any concentrations tested of $Mn^{++}$ ion.

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Chromosome 22 LD Map Comparison between Korean and Other Populations

  • Lee, Jong-Eun;Jang, Hye-Yoon;Kim, Sook;Yoo, Yeon-Kyeong;Hwang, Jung-Joo;Jun, Hyo-Jung;Lee, Kyu-Sang;Son, Ok-Kyung;Yang, Jun-Mo;Ahn, Kwang-Sung;Kim, Eug-Ene;Lee, Hye-Won;Song, Kyu-Young;Kim, Hie-Lim;Lee, Seong-Gene;Yoon, Yong-Sook;Kimm, Ku-Chan;Han, Bok-Ghee;Oh, Berm-Seok;Kim, Chang-Bae;Jin, Hoon;Choi, Kyoung-O.;Kang, Hyo-Jin;Kim, Young-J.
    • Genomics & Informatics
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    • v.6 no.1
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    • pp.18-28
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    • 2008
  • Single nucleotide polymorphisms (SNPs) are the most abundant forms of human genetic variations and resources for mapping complex genetic traits and disease association studies. We have constructed a linkage disequilibrium (LD) map of chromosome 22 in Korean samples and compared it with those of other populations, including Yorubans in Ibadan, Nigeria (YRI), Centre d'Etude du Polymorphisme Humain (CEPH) reference families (CEU), Japanese in Tokyo (JPT) and Han Chinese in Beijing (CHB) in the HapMap database. We genotyped 4681 of 111,448 publicly available SNPs in 90 unrelated Koreans. Among genotyped SNPs, 4167 were polymorphic. Three hundred and five LD blocks were constructed to make up 18.6% (6.4 of 34.5 Mb) of chromosome 22 with 757 tagSNPs and 815 haplotypes (frequency $\geq$ 5.0%). Of 3430 common SNPs genotyped in all five populations, 514 were monomorphic in Koreans. The CHB + JPT samples have more than a 72% overlap with the monomorphic SNPs in Koreans, while the CEU + YRI samples have less than a 38% overlap. The patterns of hot spots and LD blocks were dispersed throughout chromosome 22, with some common blocks among populations, highly concordant between the three Asian samples. Analysis of the distribution of chimpanzee-derived allele frequency (DAF), a measure of genetic differentiation, Fst levels, and allele frequency difference (AFD) among Koreans and the HapMap samples showed a strong correlation between the Asians, while the CEU and YRI samples showed a very weak correlation with Korean samples. Relative distance as a quantitative measurement based upon DAF, Fst, and AFD indicated that all three Asian samples are very proximate, while CEU and YRI are significantly remote from the Asian samples. Comparative genome-wide LD studies provide useful information on the association studies of complex diseases.

Molecular Genetic Analysis of Microdeletions in Y Chromosome from Korean Male Infertility Patients (한국인 남성 불임환자에서 Y염색체내 미세결실의 분자유전학적 분석)

  • Yoon, Hyun-Soo;Lee, Jeong-Hen;Seo, Ju-Tae;Kim, Hae-Jung;Lee, Dong-Ryul;Jeon, Jong-Sik;Cho, Jung-Hyun;Kim, Moon-Kyoo;Lee, Moo-Sang;Roh, Sung-Il
    • Clinical and Experimental Reproductive Medicine
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    • v.23 no.3
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    • pp.367-377
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    • 1996
  • Genes on the long arm of Y chromosome, particularly interval 6, are believed to playa critical role in human spermatogenesis. The objective of this study was to validate a sequenced-tagged site(STS)-mapping strategy for the detection of Yq microdeletion and to use this method to determine the proportion of men with Yq microdeletions in idiopathic, obstructive, nonobstructive azoospermia, severe OATS and in normal males. We analyzed three STS markers mapped to interval 6 within long arm of the Y chromosome from 106 nonobstructive, 30 obstructive azoospermia, 15 severe OATS patients, and normal 42 males in Korean men. By PCR, we tested leukocyte DNA, for the presences of STS markers(DAZ, sY129 and sY134) and SRY gene as internal control. And PCR results were confirmed by Southern hybridization, and were investigated by SSCP analysis for DAZ gene mutation. None of 42 normal males and 30 obstructive azoospermia had microdeletions, Of the 15 severe OATS typed with DAZ, sY129 and sY134, 3(20.0%) patients failed to amplify 1 or more STS markers, and of the 106 nonobstructive azoospermia typed with DAZ, sY129 and sY134, 12(11.3%) patients failed to amplify 1 or more STS markers. From these results, high prevalence(12.4%) of Yq deletion(DAZ, sY129, sY134) in men with nonobstructive idopathic azoospermia and severe OATS were observed in Korean infertility patients. To avoid the infertile offspring by assisted reproductive technique using ICSI or ROSI, genetic diagnosis will be needed in IVF-ET program.

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Clinical and Cytogenetic Analysis of Children with Maternal Chromosomal Balanced Translocation (모체의 염색체 균형전좌를 가진 환아들의 임상적 세포 유전학적 관찰)

  • Lim, Han Hyuk;Jeong, Hee Jeong;Park, Kyung Duk;Kim, Sook Ja
    • Clinical and Experimental Pediatrics
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    • v.48 no.7
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    • pp.701-705
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    • 2005
  • Purpose : Parents' genetic information plays an important role in their children's genetic expression. Human chromosome has 23-paternal chromosomes and 23-maternal chromosomes. Parental chromosomal translocation can induce clinical problems in their children because of imbalance in genetic information. We intent to analyze the cytogenentic and clinical features about children with maternal balanced translocation between chromosome 15 and 18. Methods : We detected by one family's FISH study of chromosome 15. We have evaluated children born to clinically normal parents about peripheral bood analysis, endocrine, metabolic, radiologic study, electroencephalogram and social & intelligence scale. and We analysis their clinical manifestation by hospital records. Results : Patient's father and elder sister are normal clinically and genetically. Her mother's chromosome show balanced translocation, 46, XX, t(15;18)(p11.2;p11.3). One child has 46, XX, der(18) t(15;18)(p11.2;p11.3), mental retardation, growth retardation, speech & social developmental delay, recurrent infection and mild mitochondria dysfunction. Her young brother has 46, XY, der(15) t(15;18) (p11.2;p11.3), mental retardation, aggressive behavior, obesity and speech developmental delay. Conclusion : In this study we observed the children with developmental delay, dysmorphic facial features, mental retardation, growth retardation associated with growth hormone deficiency and aggressive behavior due to unbalanced translocation between chromosome 15 and 18.

Cancer-Upregulated Gene 2 (CUG2), a New Component of Centromere Complex, Is Required for Kinetochore Function

  • Kim, Hyejin;Lee, Miae;Lee, Sunhee;Park, Byoungwoo;Koh, Wansoo;Lee, Dong Jun;Lim, Dae-Sik;Lee, Soojin
    • Molecules and Cells
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    • v.27 no.6
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    • pp.697-701
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    • 2009
  • We previously identified cancer-upregulated gene 2 (CUG2) as a commonly up-regulated gene in various human cancer tissues, especially in ovary, liver, and lung (Lee et al., 2007a). CUG2 was determined to be a nuclear protein that exhibited high proto-oncogenic activities when overexpressed in NIH3T3 mouse fibroblast cells. To identify other cellular functions of CUG2, we performed yeast two-hybrid screening and identified CENP-T, a component of CENP-A nucleosome complex in the centromere, as an interacting partner of CUG2. Moreover, CENP-A, the principle centromeric determinant, was also found in complex with CENP-T/CUG2. Immunofluorescent staining revealed the co-localization of CUG2 with human centromeric markers. Inhibition of CUG2 expression drastically affected cell viability by inducing aberrant cell division. We propose that CUG2 is a new component of the human centromeric complex that is required for proper chromosome segregation during mitosis.

A Toxicogenomic Study to Assess Methylmercury-induced Neurotoxicity

  • Kim, Youn-Jung;Yun, Hye-Jung;Ryu, Jae-Chun
    • Proceedings of the Korea Society of Environmental Toocicology Conference
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    • 2003.10a
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    • pp.177-177
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    • 2003
  • Methylmercury (MeHg) is a well-known neurotoxicant that causes severe damage to the central nervous system in humans. Many reports have shown that MeHg is poisonous to human body through contaminated foods and has released into the environment. Despite many studies on the pathogenesis of MeHg-induced central neuropathy, no useful mechanism of toxicity has been established so far. In this study, suppressive subtractive hybridization (SSH) was performed to identify differentially expressed genes on human neuroblastoma cell line, SH-SY5Y treated with DMSO and MeHg (6.25 uM) for 6 hr. Differentially expressed cDNA clones were sequenced and were screened by dot blot to eliminate false positive clones. 13 of 35 screened genes were confirmed using real time RT-PCR. These genes include EB1,90-kDa heat-shock protein, chromosome condensation-related SMC-associated protein and brain peptide Al, etc. Analysis of these genes may provide an insight into the neurotoxic effects of MeHg in human neuronal cells and a possibility to develop more efficient and exact monitoring system of heavy metals as ubiquitous environmental pollutants.

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Complete genome of methicillin resistant Staphylococcus epidermidis Z0117SE0041 isolated from human nasal mucosa (사람 코점막에서 분리된 메티실린 내성 Staphylococcus epidermidis Z0117SE0041의 유전체 염기서열)

  • Patil, Kishor Sureshbhai;Oh, Jae-Young;Han, Jae-Ik;Song, Wonkeun;Park, Hee-Myung;Chae, Jong-Chan
    • Korean Journal of Microbiology
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    • v.54 no.4
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    • pp.474-476
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    • 2018
  • Methicillin resistant Staphylococcus epidermidis Z0117SE0041 was isolated from nasal mucosa of human who raised companion dog. The complete genome of strain Z0117SE0041 consists of a 2.5 Mb chromosome and three circular plasmids with about 47, 36, and 11 kb in size, respectively. Since strain Z0117SE0041 raises concerns due to its potential to cause a disease and disseminate antibiotic resistance, further genome analysis is required in detail.