• 제목/요약/키워드: human genetics

검색결과 551건 처리시간 0.024초

Cooperative Activity of Subunits of Human Ferritin Heteropolymers in Escherichia coli

  • Lee, Jung;Seo, Hyang-Yun;Jeon, Eun-Soon;Park, Ok-Soon;Lee, Kang-Min;Park, Chung-Ung;Kim, Kyung-Suk
    • BMB Reports
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    • 제34권4호
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    • pp.365-370
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    • 2001
  • We constructed a comparative expression system in order to produce recombinant human ferritin homo- and heteropolymers in Escherichia coli. Human ferritin H-(hfH) and L-chain (hfL) genes were expressed without amino acid changes under the control of a tac promoter. Ferritin heteropolymers of varying subunit composition were also produced by combining two different expression systems, a bicistronic expression system and a coplasmid expression system. As a result, recombinant H-chain ferritin and ferritin heteropolymers were catalytically active in forming iron core in vivo. In particular, the ferritin heteropolymer that is composed of 7% H-subunit and 93% L-subunit was capable of forming an iron core of the protein, while the L-chain ferritin homopolymer was inactive in vivo. This result indicates that the two H-subunits (i.e., 7% H-subunit content) are important to keep ferritin active in the cells. In addition, human ferritins were identified as the major iron binding proteins in the transformed cells. Also, the amount of iron bound to the recombinant ferritins was proportional to the H-subunit content in ferritin heteropolymers in vivo.

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Production and Characterization of a Monoclonal Antibody against Human ${\beta}_2$-adrenergic receptor

  • Kang, Suk-Jo;Shin, Chan-Young;Song, Mi-Ryoung;Lee, Chung-Jae;Cheong, Jae-Hoon;Lee, Sang-Bong;Ko, Kwang-Ho
    • Biomolecules & Therapeutics
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    • 제5권4호
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    • pp.344-350
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    • 1997
  • The purpose of the present study was to produce and characterize a monoclonal antibody against human ${\beta}_2$-adrenergic receptor. Male BALB/c mice were immunized with glutathione S-transferase (GST) fusion protein of the C-terminal portion of the human ${\beta}_2$-adrenergic receptor which was expressed in E.Coli. The immunized splenocytes were fused with myeloma SP2/0-Agl4 cells. The resulting hybridomas were screened for the production of a monoclonal antibody which can recognize human ${\beta}_2$-adrenergic receptor, and then subcloned by limiting dilution. The resulting monoclonal antibody was named as mAb$\beta$CO2. The mono-clonal antibody $\beta$CO2 was determined as IgM subtype and then purified by anti-mouse IgM-agarose affinity chromatography. The results of ELISA, Western blot, and immunocytochemistry showed that mAb$\beta$CO2 recognized human ${\beta}_2$-adrenergic receptor in the ${\beta}_2$-adrenergic receptor-GST fusion protein and human spider-moid carcinoma cell line A431 with highly specific immunoreactivity, The monoclonal antibody $\beta$CO2 may provide useful tools for the study of the $\beta$-adrenergic receptor of human and other species including rats.

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Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases

  • Goh, Gerald;Choi, Murim
    • Genomics & Informatics
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    • 제10권4호
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    • pp.214-219
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    • 2012
  • The recent advent of next-generation sequencing technologies has dramatically changed the nature of biomedical research. Human genetics is no exception-it has never been easier to interrogate human patient genomes at the nucleotide level to identify disease-associated variants. To further facilitate the efficiency of this approach, whole exome sequencing (WES) was first developed in 2009. Over the past three years, multiple groups have demonstrated the power of WES through robust disease-associated variant discoveries across a diverse spectrum of human diseases. Here, we review the application of WES to different types of inherited human diseases and discuss analytical challenges and possible solutions, with the aim of providing a practical guide for the effective use of this technology.

'포스트 게놈' 시대에서 간호학의 과제 (Nursing Genetics in 'Postgenome' Era)

  • 최스미
    • Journal of Korean Biological Nursing Science
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    • 제7권1호
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    • pp.5-14
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    • 2005
  • Since the Human Genome Project(HGP) has begun in the mid 1980s, the sequencing of the human genome has been finally completed in 2001. The knowledge developed from the HGP has revolutionized how health care professionals think about patient care, mandating a new paradigm of patient care in totally inconceivable ways from the past. For instance, the patients at risk for disease can be identified early enough for intervention; the medicine can be tailored for individual patients based on their own genetic information ; the gene therapy could be a common procedure in the near future. The advancement in genetics, therefore, requires the shift of paradigm not only in nursing education, practice, but also in nursing research. It is attempted, in this article to introduce briefly the basic knowledge of genetics, the pharmacogenomics, and the overview of national genetic research initiated and organized by the Center for Functional Analysis of Human Genome in Korea. The current state of nursing genetic knowledge and its implications on nursing education, practice, and research has examined. Furthermore, the visions and the opportunities for nursing science and practice to participate in this genetic revolution were also explored.

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Tissue Specific Expression Levels of Apoptosis Involved Genes Have Correlations with Codon and Amino Acid Usage

  • Hajjari, Mohammadreza;Sadeghi, Iman;Salavaty, Abbas;Nasiri, Habib;Birgani, Maryam Tahmasebi
    • Genomics & Informatics
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    • 제14권4호
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    • pp.234-240
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    • 2016
  • Different mechanisms, including transcriptional and post transcriptional processes, regulate tissue specific expression of genes. In this study, we report differences in gene/protein compositional features between apoptosis involved genes selectively expressed in human tissues. We found some correlations between codon/amino acid usage and tissue specific expression level of genes. The findings can be significant for understanding the translational selection on these features. The selection may play an important role in the differentiation of human tissues and can be considered for future studies in diagnosis of some diseases such as cancer.

Expression of PACT and EIF2C2, Implicated in RNAi and MicroRNA Pathways, in Various Human Cell Lines

  • Lee, Yong-Sun;Jeon, Yesu;Park, Jong-Hoon;Hwang, Deog-Su;Dutta, Anindya
    • Animal cells and systems
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    • 제8권3호
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    • pp.213-220
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    • 2004
  • MicroRNA and siRNA (small interfering RNA), representative members of small RNA, exert their effects on target gene expression through association with protein complexes called miRNP (microRNA associated ribonucleoproteins) and RISC (RNA induced silencing complex), respectively. Although the protein complexes are yet to be fully characterized, human EIF2C2 protein has been identified as a component of both miRNP and RISC. In this report, we raised antiserum against EIF2C2 in order to begin understanding the protein complexes. An immunoblot result indicates that EIF2C2 protein is ubiquitously expressed in a variety of cell lines from human and mouse. EIF2C2 protein exists in both cellular compartments, as indicated by an immunoblot assay with a nuclear extract and a cytosolic fraction (S100 fraction) from HeLa S3 lysate. Depletion of EIF2C1 or EIF2C2 protein resulted in a decrease of microRNA, suggesting a possible role of these proteins in microRNA stability or biogenesis. We also prepared antiserum against dsRNA binding protein PACT, whose homologs in C. elegans and Drosophila are known to have a role in the RNAi (RNA interference) pathway. The expression of PACT protein was also observed in a wide range of cell lines.

Isolation and Cloning of Porcine SLC27A2 Gene and Detection of Its Polymorphism Associated with Growth and Carcass Traits

  • Wang, Tao;Liu, Chang;Xiong, Yuan-Zhu;Deng, Chang-Yan;Zuo, Bo;Xie, Hong-Tao;Xu, De-Quan
    • Asian-Australasian Journal of Animal Sciences
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    • 제20권8호
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    • pp.1169-1173
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    • 2007
  • The protein encoded by SLC27A2 gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family, and it converts free long-chain fatty acids into fatty acyl-CoA esters, and thereby plays a key role in lipid biosynthesis and fatty acid degradation. In the present study, SLC27A2 located on human chromosome 15 was selected as candidate gene and we isolated and cloned partial fragments of mRNA sequence and genomic fragments of porcine SLC27A2 gene. The coding region of the gene as determined by alignments shared 90% and 82% identity with human and mouse cDNAs, respectively. Detection in LargeWhite and Meishan breeds showed that a single nucleotide polymorphism (SNP) ($A{\rightarrow}G$) existed in exon 7, which caused corresponding amino acid changed for encoding. In LargeWhite pigs it encoded for Val while in Meishan pigs it encoded for Ile, so we developed the PCR-RFLP genotype method for detection of this polymorphism. Association study in 135 $F_2$ reference family indicated that significant correlation existed between the polymorphism and growth and carcass traits.

Dlx3 and Dlx5 Inhibit Adipogenic Differentiation of Human Dental Pulp Stem Cells

  • Lee, Hye-Lim;Nam, Hyun;Lee, Gene;Baek, Jeong-Hwa
    • International Journal of Oral Biology
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    • 제37권1호
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    • pp.31-36
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    • 2012
  • Dlx3 and Dlx5 are homeobox domain proteins and are well-known regulators of osteoblastic differentiation. Since possible reciprocal relationships between osteogenic and adipogenic differentiation in mesenchymal stem cells exist, we examined the regulatory role of Dlx3 and Dlx5 on adipogenic differentiation using human dental pulp stem cells. Over-expression of Dlx3 and Dlx5 stimulated osteogenic differentiation but inhibited adipogenic differentiation of human dental pulp stem cells. Dlx3 and Dlx5 suppressed the expression of adipogenic marker genes such as $C/EBP{\alpha}$, $PPAR{\gamma}$, aP2 and lipoprotein lipase. Adipogenic stimuli suppressed the mRNA levels of Dlx3 and Dlx5, whereas osteogenic stimuli enhanced the expression of Dlx3 and Dlx5 in 3T3-L1 preadipocytes. These results suggest that Dlx3 and Dlx5 exert a stimulatory effect on osteogenic differentiation of stem cells through the inhibition of adipogenic differentiation as well as direct stimulation.