• Title/Summary/Keyword: human genetics

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Compositional Correlations in Canine Genome Reflects Similarity with Human Genes

  • Joy, Faustin;Basak, Surajit;Gupta, Sanjib Kumar;Das, Pranab Jyoti;Ghosh, Shankar Kumar;Ghosh, Tapash Chandra
    • BMB Reports
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    • v.39 no.3
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    • pp.240-246
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    • 2006
  • The base compositional correlations that hold among various coding and noncoding regions of the canine genome have been analysed. The distribution pattern of genes, on the basis of $GC_3$ composition, shows a wide range similar to that observed in human. However the occurrence of maximum number of genes was observed in the range of 65-75% of $GC_3$ composition. The correlation between the coding DNA sequences of canine with the different noncoding regions (introns and flanking regions) is found to be significant and in many cases the degree of correlation show similarity to human genome. We found that these correlations are not limited to the GC content alone, but is holding at the level of the frequency of individual bases as well. The present study suggests that canines ideally belong to the predicted 'general mammalian pattern' of genome composition along with human beings.

Pathogenic variant in NLRP7 (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during in vitro fertilization

  • Sills, E. Scott;Obregon-Tito, Alexandra J.;Gao, Harry;McWilliams, Thomas K.;Gordon, Anthony T.;Adams, Catharine A.;Slim, Rima
    • Clinical and Experimental Reproductive Medicine
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    • v.44 no.1
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    • pp.40-46
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    • 2017
  • Objective: To describe in vitro development of human embryos derived from an individual with a homozygous pathogenic variant in NLRP7 (19q13.42) and recurrent hydatidiform mole (HM), an autosomal recessive condition thought to occur secondary to an oocyte defect. Methods: A patient with five consecutive HM pregnancies was genomically evaluated via next generation sequencing followed by controlled ovarian hyperstimulation, in vitro fertilization (IVF) with intracytoplasmic sperm injection, embryo culture, and preimplantation genetic screening. Findings in NLRP7 were recorded and embryo culture and biopsy data were tabulated as a function of parental origin for any identified ploidy error. Results: The patient was found to have a pathogenic variant in NLRP7 (c.2810+2T>G) in a homozygous state. Fifteen oocytes were retrieved and 10 embryos were available after fertilization via intracytoplasmic sperm injection. Developmental arrest was noted for all 10 embryos after 144 hours in culture, thus no transfer was possible. These non-viable embryos were evaluated by karyomapping and all were diploid biparental; two were euploid and eight had various aneuploidies all of maternal origin. Conclusion: This is the first report of early human embryo development from a patient with any NLRP7 mutation. The pathogenic variant identified here resulted in global developmental arrest at or before blastocyst stage. Standard IVF should therefore be discouraged for such patients, who instead need to consider oocyte (or embryo) donation with IVF as preferred clinical methods to treat infertility.

Effect of N-acetyl-L-cysteine on human chronic myeloid leukemia cells KCL22 treated with mitomycin C

  • Simonyan, Anna;Hovhannisyan, Galina;Aroutiounian, Rouben;Kim, Jin Kyu
    • Journal of Ecology and Environment
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    • v.37 no.1
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    • pp.31-34
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    • 2014
  • The effectiveness of N-acetyl-L-cysteine (NAC) to protect blood cells against Mitomycin C (MMC) induced genotoxicity was investigated in human chronic myeloid leukemia cells (KCL22) using the alkaline comet assay. The comet assay was selected as sensitive and rapid method for analysis of DNA damage and repair in individual cells. NAC treatment alone did not produce any damage in KCL22 cell. But NAC was found to be effective in reducing genotoxic damage in KCL22 cells exposed to MMC. These results confirm the literature data that, given the safety and ability to reduce DNA damage. NAC may be useful to prevent drug-mediated genotoxicity.

Molecular approaches for improvement of medicinal and aromatic plants

  • Kumar, Jitendra;Gupta, Pushpendra Kumar
    • Plant Biotechnology Reports
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    • v.2 no.2
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    • pp.93-112
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    • 2008
  • Medicinal and aromatic plants (MAPs) are important sources for plant secondary metabolites, which are important for human healthcare. Improvement of the yield and quality of these natural plant products through conventional breeding is still a challenge. However, recent advances in plant genomics research has generated knowledge leading to a better understanding of the complex genetics and biochemistry involved in biosynthesis of these plant secondary metabolites. This genomics research also concerned identification and isolation of genes involved in different steps of a number of metabolic pathways. Progress has also been made in the development of functional genomics resources (EST databases and micro-arrays) in several medicinal plant species, which offer new opportunities for improvement of genotypes using perfect markers or genetic transformation. This review article presents an overview of the recent developments and future possibilities in genetics and genomics of MAP species including use of transgenic approach for their improvement.

Overexpression of Mouse Nck Transforms Mouse Febroblast NIH3T3

  • Kim, Young H.;Han, Sun-Mi;Kim, Moon G.;Park, Dong-Eun;Park, Sang D.;Seong, Rho H.
    • Animal cells and systems
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    • v.1 no.3
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    • pp.521-526
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    • 1997
  • We isolated a mouse nck cDNA from the thymus cDNA expression library. The cDNA encodes a 377 amino acid protein and displays 97% amino acid sequence identity to human oncogenic protein nck, which is composed almost exclusivelv of three src homology 3 (SH3) domains and one SH2 domain. The sequence analysis also showed that the isolated cDNA is the mouse counterpart of the human nck and different from the mouse grb4, which has been reported to be highly similar to the human nck and, therefore considered as a mouse nck, Northern blot analysis showed that the transcript of the gene was 1.8 kb and was highly expressed in the testis, thymus, and brain but moderately in the liver and lymph node. Western blot analysis showed that the size of the protein was about 47 kDa. Overexpression of the mouse Nck transformed a mouse fibroblast cell line, NIH3T3. The results clearly indicate that normal nck gene has transforming ability and provide an argument against a suggested possibility that the transforming ability of the human nck gene is due to a mutation(s) in the gene.

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Reconstitution of Iron Cores in Horse Spleen and Yeast-derived Recombinant Human H- and L-chain Ferritins

  • Kim, Sung-Won;Jo, Min-Young;Yokota, Yasuhiro;Chung, Yun-Jo;Park, Chung-Ung;Kim, Kyung-Suk
    • Bulletin of the Korean Chemical Society
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    • v.25 no.2
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    • pp.237-242
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    • 2004
  • Recombinant human ferritin homopolymers (rHF and rLF) were successfully produced in the Saccharomyces cerevisiae Y2805, which was transformed with human ferritin H or L-chain genes, respectively. In order to characterize the molecular properties of the recombinant ferritins in relation to mineralization, the proteins were isolated and apoferritins were prepared. The apoferritins were reconstituted with 2000 Fe atoms per protein molecule under various experimental conditions (the concentration of the protein, the buffer concentration of the MOPS buffer, the total volume of the reaction and the reconstitution method). The structure and composition of the iron cores formed in the ferritins were examined using transmission electron microscopy. The recombinant ferritins behaved in a similar manner to other mammalian ferritins in accumulating iron in the core. Proteins of rHF and rLF showed varying reconstitution yields of 37-72% depending on the reaction conditions. In general, the rHF showed higher reconstitution yield than the rLF at the protein concentrations and the reaction volumes we examined. Iron cores with a similar mean particle size were obtained in the rHF, rLF and horse spleen ferritin reconstituted at a protein concentration of 1.0 mg/mL. Electron diffraction of all the three ferritins showed 2-3 diffuse lines, with d-spacings corresponding to those of the mineral ferrihydrite with a limited crystallinity.

Establishment of Hertwig's Epithelial Root Sheath/Epithelial Rests of Malassez Cell Line from Human Periodontium

  • Nam, Hyun;Kim, Ji-Hye;Kim, Jae-Won;Seo, Byoung-Moo;Park, Joo-Cheol;Kim, Jung-Wook;Lee, Gene
    • Molecules and Cells
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    • v.37 no.7
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    • pp.562-567
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    • 2014
  • Human Hertwig's epithelial root sheath/epithelial rests of Malassez (HERS/ERM) cells are epithelial remnants of teeth residing in the periodontium. Although the functional roles of HERS/ERM cells have yet to be elucidated, they are a unique epithelial cell population in adult teeth and are reported to have stem cell characteristics. Therefore, HERS/ERM cells might play a role as an epithelial component for the repair or regeneration of dental hard tissues; however, they are very rare population in periodontium and the primary isolation of them is considered to be difficult. To overcome these problems, we immortalized primary HERS/ERM cells isolated from human periodontium using SV40 large T antigen (SV40 LT) and performed a characterization of the immortalized cell line. Primary HERS/ERM cells could not be maintained for more than 6 passages; however, immortalized HERS/ERM cells were maintained for more than 20 passages. There were no differences in the morphological and immunophenotypic characteristics of HERS/ERM cells and immortalized HERS/ERM cells. The expression of epithelial stem cell and embryonic stem cell markers was maintained in immortalized HERS/ERM cells. Moreover, immortalized HERS/ERM cells could acquire mesenchymal phenotypes through the epithelial-mesenchymal transition via TGF-${\beta}1$. In conclusion, we established an immortalized human HERS/ERM cell line with SV40 LT and expect this cell line to contribute to the understanding of the functional roles of HERS/ERM cells and the tissue engineering of teeth.