• Title/Summary/Keyword: Korean mtDNA

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Association of ND4L gene 10609 mutation and hearing loss in a Korean with ESRD patients

  • Kim, Eun Sook
    • Korean Journal of Clinical Laboratory Science
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    • v.44 no.3
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    • pp.128-135
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    • 2012
  • The kidney and cochlea have similar physiological characteristics, specifically the active transport of fluid and electrolytes, similar effects of aminoglycosides and some immunological factors. Several mitochondrial DNA (mtDNA) defects have been identified to be associated with hearing impairment either in syndromic or nonsyndromic forms. Dialysis patients had more oxidative stress than healthy subjects and this elevated oxidative stress leads to alterations of the mtDNA. To generate a more comprehensive analysis of the relationship between mitochondrial variation and hearing loss, two SNPs of 10609, 14668 position showed nominal levels of association with hearing loss. In our result, the mean PTA values in the ESRD patients were $28{\pm}13.9\;(mean{\pm}SD)dB$ and $51.0{\pm}23.2dB$ in low and high frequencies, which were significantly higher than those in the normal controls. 10609T>C and 14668C>T were significantly associated with hearing loss in the ESRD patients. In summary, our results suggest that the polymorphisms of the ND4L subunit gene might be association with ESRD patients and hearing loss.

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Genealogical Stratification by Genetic Distance and DNA Haplotrees (DNA 해프로트리와 유전적거리에 의한 가계족보의 계층화)

  • Ryu, Kwang Ryol
    • Journal of the Korea Institute of Information and Communication Engineering
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    • v.24 no.1
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    • pp.65-70
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    • 2020
  • This paper describes hierarchically stratifying and analyzing haplotrees of haplogroups from haplotypes on the Y and X chromosomes of human cells for genetic and Korean traditional and genealogical trees. The specific region is Chungcheong province, and the Y-DNA of the paternal lines has high frequency of O3a∗ and O2b∗ in the O group, and the mtDNA of the maternal line has a relatively high frequency of D∗ and M∗ in the L3 group. Each combination of these constructs the family tree of the father lines and mother lines. Genetic distances using Nei's standard genetic distance, are very close relatives of less than 0.1 and close relatives of 0.1 to 0.8. Provided, the distance is more than 1.0, it is difficult to estimate relatives. STR has the identified kinship, and SNP has the personal genetic identification. A scientific stratification of the Korean genealogical tree is created by the three factors.

Complete Sequence of the Mitochondrial Genome of Spirometra ranarum: Comparison with S. erinaceieuropaei and S. decipiens

  • Jeon, Hyeong-Kyu;Park, Hansol;Lee, Dongmin;Choe, Seongjun;Kang, Yeseul;Bia, Mohammed Mebarek;Lee, Sang-Hwa;Eom, Keeseon S.
    • Parasites, Hosts and Diseases
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    • v.57 no.1
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    • pp.55-60
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    • 2019
  • This study was undertaken to determine the complete mitochondrial DNA sequence and structure of the mitochondrial genome of Spirometra ranarum, and to compare it with those of S. erinaceieuropaei and S. decipiens. The aim of this study was to provide information of the species level taxonomy of Spirometra spp. using the mitochondrial genomes of 3 Spirometra tapeworms. The S. ranarum isolate originated from Myanmar. The mitochondrial genome sequence of S. ranarum was compared with that of S. erinaceieuropaei (GenBank no. KJ599680) and S. decipiens (GenBank no. KJ599679). The complete mtDNA sequence of S. ranarum comprised 13,644 bp. The S. ranarum mt genome contained 36 genes comprising 12 protein-coding genes, 22 tRNAs and 2 rRNAs. The mt genome lacked the atp8 gene, as found for other cestodes. All genes in the S. ranarum mitochondrial genome are transcribed in the same direction and arranged in the same relative position with respect to gene loci as found for S. erinaceieuropaei and S. decipiens mt genomes. The overall nucleotide sequence divergence of 12 protein-coding genes between S. ranarum and S. decipiens differed by 1.5%, and 100% sequence similarity was found in the cox2 and nad6 genes, while the DNA sequence divergence of the cox1, nad1, and nad4 genes of S. ranarum and S. decipiens was 2.2%, 2.1%, and 2.6%, respectively.

Molecular cloning and characterization of metallothionein cDNA gene in channel catfish (챠넬메기의 metallothionein cDNA 유전자의 cloning 및 그 특성에 관한 연구)

  • Lee, In-Jung;Song, Young-Hwan
    • Journal of fish pathology
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    • v.5 no.2
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    • pp.143-152
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    • 1992
  • Metallothionein is an essential and common protein to regulate the intracellular concentration of heavy metals, which exist in most organisms from bacteria to vertebrates. Although the detailed function of metallothianein has not been fully identified until yet, it may be involoved in the cellular protection against the heavy metal toxicity and in the global regulation of several other genes and the expression of metalloproteins. We have cloned the full cDNA clone of metallothionein gene in Channel Catfish by Reverse Transcriptase-Polymerase Chain Reaction(RT-PCR) starting from poly(A)-containing mRNAs. All PCR fragments have been subcloned into EcoRV site of pBluescript SK+ and dT-tailed at Smal site of pUC19, then PCR products are recovered by the double digestion of recombinant plasmids wiht EcoRI and HindIII, which are adjacent to EcoRV site in multicloning sites or by rapid PCR screening. The nucleotide sequence analysis of pMT150(one of the PCR clones) showed high homology with several other piscine metallothionein cDNA genes.

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Mitochondrial genome mutations in mesenchymal stem cells derived from human dental induced pluripotent stem cells

  • Park, Jumi;Lee, Yeonmi;Shin, Joosung;Lee, Hyeon-Jeong;Son, Young-Bum;Park, Bong-Wook;Kim, Deokhoon;Rho, Gyu-Jin;Kang, Eunju
    • BMB Reports
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    • v.52 no.12
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    • pp.689-694
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    • 2019
  • Ethical and safety issues have rendered mesenchymal stem cells (MSCs) popular candidates in regenerative medicine, but their therapeutic capacity is lower than that of induced pluripotent stem cells (iPSCs). This study compared original, dental tissue-derived MSCs with re-differentiated MSCs from iPSCs (iPS-MSCs). CD marker expression in iPS-MSCs was similar to original MSCs. iPS-MSCs expressed higher in pluripotent genes, but lower levels in mesodermal genes than MSCs. In addition, iPS-MSCs did not form teratomas. All iPSCs carried mtDNA mutations; some shared with original MSCs and others not previously detected therein. Shared mutations were synonymous, while novel mutations were non-synonymous or located on RNA-encoding genes. iPS-MSCs also harbored mtDNA mutations transmitted from iPSCs. Selected iPS-MSCs displayed lower mitochondrial respiration than original MSCs. In conclusion, screening for mtDNA mutations in iPSC lines for iPS-MSCs can identify mutation-free cell lines for therapeutic applications.

Repair of UV-induced Cyclobutane Pyrimidine Dimers in Human Mitochonrial DNA-less Cells

  • Ikushima, Takaji;Gu, Ning;Tanizaki, Yuichi
    • Journal of Photoscience
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    • v.9 no.2
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    • pp.479-481
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    • 2002
  • UV-induced DNA damage causes cell killing and mutations leading to carcinogenesis. In normal human cells, UV damage such as cyclobutane pyrimidine dimers (CPDs) and primidine-prymidone (6-4) photoproducts are mainly repaired by nucleotide excision repair mechanism. The molecular processes have been well characterized recently. To know the influence of mitochondrial genome on the nucleotide excision repair mechanism against CPDs, we comparatively examined the production of CPDs by UVC irradiation and their repair kinetics in human cells completely lacking mitochondrial DNA (mtDNA) and the parental HeLa S cells. Whole DNA extracted from the cells exposed to UVC was treated with T4-endonuclease V to break the phosphodiester bond adjacent to CPDs. The DNA was electrophoresed in a denaturing agarose gel, which was visualized by ethidium bromide staining. The relative amount of CPDs was determined by image analysis using NIH Image software. MtDNA- less (rho-O) cells were apparently more sensitive to UVC than HeLa S cells, while the level of induction of CPDs in rho-O and HeLa cells was comparable. The repair of CPDs was less efficient in rho-O cells compared with HeLa cells. The residual amount of CPDs after 24-h repair was larger in rho-O cells than in HeLa cells where more than 90 % of CPDs were repaired by then. The non-repaired CPDs would lead to apoptosis in rho-O cells. These results suggest that mitochondrial genome may contribute to some ATP-dependent steps in nucletide excision repair by supplying sufficient ATP which is generated through a respiratory chain in mitochondria.

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Natural hybridization of Iris species in Mt. Palgong-san, Korea (팔공산 금붓꽃 계열의 자연 잡종 현상)

  • Son, OGyeong;Son, Sung-Won;Suh, Gang-Uk;Park, SeonJoo
    • Korean Journal of Plant Taxonomy
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    • v.45 no.3
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    • pp.243-253
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    • 2015
  • Series Chinensis, Genus Iris, endemic to the far regions of East Asia, consists of four species and related varieties. This series is divided into two major groups (I. rossii and I. minutiaurea complex). In this study, the ITS region and matK gene sequences within nuclear ribosomal DNA and plastid DNA were analyzed in order to investigate the phylogenetic relationships among the I. minutiaurea complex (I. minutiaurea, I. odaesanensis, and I. koreana) and the taxonomic identities of a putative hybrid in Mt. Palgong. In the internal transcribed spacer (ITS1, 5.8S, and ITS2) region, a total of 106 cloned genomic sequences from three taxa were obtained to study the intragenomic polymorphisms of the ITS regions. Three taxa revealed high levels of intragenomic polymorphisms, indicative of incomplete nrDNA concerted evolution. This incomplete ITS concerted evolution in the series Chinensis may be linked to the recent species divergence and frequent interspecies hybridization of the series Chinensis. In the matK gene, three taxa were fairly separated by eleven variable sites. In eight individuals collected on Mt. Palgong, putative hybrids between I. odaesanensis and I. minutiaurea were clustered in the I. minutiaurea clade in the NJ (neighbor-joining) tree based on the matK gene. However, in the ITS tree, some of them were clustered in the I. odaesanensis clade and others were clustered in the I. minutiaurea clade. Therefore, the individuals on Mt. Palgong were formed by the hybridization between two taxa (I. odaesanensis and I. minutiaurea) and not through the lineage of I. koreana.

First report of an aeolid nudibranch Flabellina athadona and an identification key for the genus Flabellina from Korea

  • Jung, Daewui;Park, Joong-Ki
    • The Korean Journal of Malacology
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    • v.31 no.3
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    • pp.249-252
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    • 2015
  • An aeolid nudibranch species Flabellina athadona (Bergh, 1875) is newly recorded from Korean waters. This species is distinguished from other congeneric species by the following characteristics: translucent white body, deep orange colored digestive glands, plenty of white specks, and a reversed Y-shaped marking on the head between rhinophores and oral tentacles. In this report, we also provide an identification key for the genus Flabellina in Korea, photographs, and diagnostic characteristics of F. athadona. Molecular identification using mtDNA cox1 partial sequences is also provided to help differentiate F. athadona from some of its closely related congeneric species.