• Title/Summary/Keyword: Korean mtDNA

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Polymorphism of mitochondrial DNA in Jindo dogs and Japanese mongrels dogs (DNA 다형(多型)에 있어서 진도견(珍島犬)과 잡종견(雜種犬)과의 비교(比較))

  • Han, Bang-keun;Kim, Joo-heon;Kang, Ju-won;Ikemoto, Shigenori
    • Korean Journal of Veterinary Research
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    • v.33 no.1
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    • pp.43-51
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    • 1993
  • Mitochondrial DNA(mt DNA) of Mammalian is the circular one which the 16.5K base pairs and show the maternal inheritance. Evolutional speed of nucleotide sequence is very fast. So that polymorphic analysis of mt DNA provide the useful informations to investigate the genetic relations of interspecies. Authors trials were focussed to compare with the polymorphic differences of mitochondrial DNA between Jindo and Japanese mongrel dogs. DNA was extracted from bloods of 21 head of Jindo dogs and 20 head of Japanese dogs and isolated using 10 kinds of restriction endonucleases(Apa I, BamH I, Bgl II, EcoR I, EcoR V, Hinc II. Hind III, Pst I, Sty I, Xba I) and then separated by the agarose gel electrophoresis. After sourthern blotting hybridization was completed using the mtDNA of Japanese mongrel dogs as a probe. Autoradiography was used to compare the polymorphism of mtDNA both dogs. The results obtained were as follows; 1. mt DNA of Jindo dog showed polymorphism resulting cleavage with four kinds of restriction endonuclease, Apa I, EcoR V, Hinc II, Sty I. While in the Japanese mongrel dogs observed the polymorphism in the five kinds of restriction endonuclease supplemented with EcoR I. 2. Compared with both dogs the frequency differences of DNA polymorphism were recognized in the specific restriction endonuclease Apa I. Consequently in the restriction endonuclease Apa I both dogs classified with three types as A, B, C however in the Jindo dogs frequency of C type was 71.5 percent but in Japanese mongrel dogs observed 45 percent in the A type. 3. DNA polymorphism obtained from the use of five kinds of restriction endonuclease were classified with seven types. In Jindo dogs frequency was highest in the type 6 as 71.4 percent but in the Japanese mongrel dogs showed 35 percent in the type 5. 4. Genetic distances calculated by NEI method showed 0.0089 in Jindo dogs and was 0.0094 in the Japanese mongrel dogs.

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Molecular Cloning and Characterization of a Novel Metallothionein Isoform Expressed in Tiger Shark(Scyliorhinus torazame) (두툽상어(Scyliorhinus torazame)Metallothionein cDNA의 cloning 및 이의 분자적 특성)

  • Noh, Jae-Koo;Nam, Yoon-Kwon;Kim, Dong-Soo
    • Journal of fish pathology
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    • v.14 no.2
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    • pp.59-64
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    • 2001
  • A complementary DNA encoding metallothionein(MT), a heavy metal-responsive protein was cloned from a cartilaginous shark species. Scyliorhinus torazame. An expressed sequence tag(EST)from the shark liver, which showed high similarity with a MT gene, was isolated and its full-length sequence(390bp)was determined. The putative shark MT cDNA sequence contained an open reading frame consisting 68 amino acids and 182bp of 3-untranslated region including the poly (A+) signal. The deduced amino acid sequence was 41-54% identical to those of other animals including mammals and fish species. Tiger shark MT cDNA showed high conservation in the Cys regions. however, peculiarly contained not only additional five amino acids just prior to the conserved beta-domain but also a Ser residue at C terminal, which has not been seen in other MT sequences.

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Isolation and Characterization of Mitochondrial DNA from Arehicityars and Metacitrus (Archicitrus와 Metacitrus로부터 Mitochondrial DNA의 분리 및 특성)

  • 이숙영;박민희
    • The Korean Journal of Food And Nutrition
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    • v.8 no.4
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    • pp.307-317
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    • 1995
  • The purity of mtDNAs isolated from Archicitrus and Metacitrus leaves was higher in percoll density gradient centrifugation than differential and sucrose density gradient centrifugation. The most clear mtDNAs were obtained from mitochondria included in the Interface band of between 21% and 45% under isomotic, low viscosity conditions in the three step discontinuous percoll density gradient centrifugation. DNase treatment to the crude mitochondrlal suspension still more increased purity of mtDNA by the effective removal of the nuclear and chloroplast DNA and mtDNAs were appeared as a single band at middle position of tube by EtBr /cscl density gradient centrifugation. Agarose gel electrophoresis of mtDNAs resolved a single, broad band containing high molecular weight DNAs In all preparation. Yield of mtDNAs was about 110 and 2 ug Per 2009 in mature and immature leaves respectively. The mtDNA fragment patterns showed by EcoR I treatment were indistinguishable with respect to nom bet and position of bands in Archicitrus and Metacitrus. In the pattern of Hind E restriction, the Metacitrus displayed the unique band between 5.0 and 4.0kb, in addition to four fragments about 5.0, 2.4, 2.15, and 2.0kb, respectively, different from Archicitrus. Also the pattern of total mtDNAs fragment by the treatment of Pst I showed that the distinguishable fragment pat tern was not appeared in Archicitrus(C. iyo Tanaka), but about 6.0, 5.5, 5.0 and 2.Bkb fragments were appeared only in Metacitrus(C. junos Sieb). Therefore it was indicated that two species in intra-subgenus were identical each other, whereas considerable difference was revealed for inter-subgenus.

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Selection of iPSCs without mtDNA deletion for autologous cell therapy in a patient with Pearson syndrome

  • Yeonmi Lee;Jongsuk Han;Sae-Byeok Hwang;Soon-Suk Kang;Hyeoung-Bin Son;Chaeyeon Jin;Jae Eun Kim;Beom Hee Lee;Eunju Kang
    • BMB Reports
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    • v.56 no.8
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    • pp.463-468
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    • 2023
  • Screening for genetic defects in the cells should be examined for clinical application. The Pearson syndrome (PS) patient harbored nuclear mutations in the POLG and SSBP1 genes, which could induce systemic large-scale mitochondrial genome (mtDNA) deletion. We investigated iPSCs with mtDNA deletions in PS patient and whether deletion levels could be maintained during differentiation. The iPSC clones derived from skin fibroblasts (9% deletion) and blood mononuclear cells (24% deletion) were measured for mtDNA deletion levels. Of the 13 skin-derived iPSC clones, only 3 were found to be free of mtDNA deletions, whereas all blood-derived iPSC clones were found to be free of deletions. The iPSC clones with (27%) and without mtDNA deletion (0%) were selected and performed in vitro and in vivo differentiation, such as embryonic body (EB) and teratoma formation. After differentiation, the level of deletion was retained or increased in EBs (24%) or teratoma (45%) from deletion iPSC clone, while, the absence of deletions showed in all EBs and teratomas from deletion-free iPSC clones. These results demonstrated that non-deletion in iPSCs was maintained during in vitro and in vivo differentiation, even in the presence of nuclear mutations, suggesting that deletion-free iPSC clones could be candidates for autologous cell therapy in patients.

Mitochondrial DNA Variation in Oysters (Crassostrea gigas Thunberg and C. nippona Seki) Populations from Korea and Japan (한국 및 일본산 참굴 (Crassostrea gigas Thunberg)과 한국산 바위굴(C. nippona Seki) 의 미토콘드리아 DNA 변이)

  • 박미선;김상해
    • Animal Systematics, Evolution and Diversity
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    • v.11 no.2
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    • pp.235-242
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    • 1995
  • The nucleotide sequence variation of mitochondria1 DNA were investigated by eight restriction endonucleases from two oyster species, Crassostrea gigas collected from two localities of South Korea and one locality of Japan and C. nippona collected from one locality of South Korea. The total mtDNA size in the oyster, C. gigas, from the three localities was approximately 18 kb and that in C. nippona was 22 kb. The restriction fragment patterns of mtDNA in C. gigas from the three localities by BamHI, BgII, and XhoI digestions were identical to one another. The degree of mtDNA sequence divergence of C. gigas between the two localities in Korea was 2% and that between Korean and Japanese C. gigas was 5%. The amount of sequence divergence between the two species of oysters was 42%.

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Genetic Differentiation of the Mitochondrial DNA in Korean Salamander, Hynobius leechii (한국산 도룡뇽 (Hvnobius 1eechii)의 mitochondrial DNA 유전적 변이)

  • 이혜영;정은경
    • The Korean Journal of Zoology
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    • v.36 no.1
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    • pp.14-20
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    • 1993
  • 한국산 도룡농, Hvnobius leechii의 7개 집단에서 mitochondrial DNA(mtDNA)의 변이가 조사되었다. MtDNA의 크기에서의 차이는 관찰되지 않았으나 제한효소 인식 부위에서의 차이가 조사되었다. MtDNA의 절편 양상은 각 집단에서 동일하게 나타났다. 제한 효소로 처리하여 얻어진 절편의 비교에서 종내 변이는 염기 치환에 의하여 발생한 것임이 분석되어졌다. 특히 하동과 제주 집단은 몇개의 제한 효소 인식 위치에서 나머지 5개 집단과 뚜렷한 차이를 보였다. 염기치환율(p값)은 공통 절편 비율(p값)을 토대로 하여 얻어졌으며 그 값은 0.004에서 0.064의 범위 내의 값으로 측정되었다. 하동과 제주 집단을 제외한 5개 집단의 비교에서는 비교적 낮은 침의 염기 치환율을 보였으나 제주와 나머지 집단들과의 비교에서는 염기치환율이 높게 측정되었다. 염기 치환율과 관련지어 염기 분화 연대를 측정한 결과 도룡뇽 7개 집단은 3개의 group으로 나뉘어 졌으며 이들은 약 188만년전에 분화된 것으로 사료되어 진다.

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Distribution of Length Variation of the mtDNA 9-bp Motif in the Intergenic COII/tRNAX$^{Lys}$ Region in East Asian Populations

  • Han Jun Jin;Jeon Won Choi;Dong Jik Shin;Jung Min Kim;Wook Kim
    • Animal cells and systems
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    • v.3 no.4
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    • pp.393-397
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    • 1999
  • Length variations in human mitochondrial DNA (mtDNA) offer useful markers in the study of female aspects of human population history. One such length variation is a 9-bp deletion in the small noncoding segment located between the COII and Iysine tRNA genes (COII/tRNA/$^{Lys}$ intergenic region) which usually contain two tandemly arranged copies of a 9-bp sequence (ccccctcta) in human mtDNA. The mtDNA 9-bp deletion and polymorphic variants of expanded 9-bp repeat motif in the intergenic COII/tRNA$^{Lys}$ region have been found at varying frequencies among different human ethnic groups. We have examined the length variation of the mtDNA COII/tRNA$^{Lys}$ intergenic region from a total of 813 individuals in east Asian populations. The occurrence of the 9-bp deletion was found to be relatively homogeneous in northeast Asian populations (Chinese, 14.2%; Japanese, 14.3%: Koreans, 15.5%), with the exception of Mongolians (5.1%). In contrast, Indonesians (25.0%) and Vietnamese (23.2%) of the southeast Asian populations appeared to have relatively high frequencies of the 9-bp deletion. We identified the existence of a new expanded 9-bp repeat motif which likely resulted from a slipped mispairing insertion of six more cytosines in the intergenic COII$^{Lys}$ region. It was present at low frequencies in the Korean (2/349) and Japanese populations (2/147). Based on the results of this study, the Korean population may reflect a close genetic affinity with the Japanese and Chinese populations than the others surveyed east Asian populations.

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Genetic Variation of the Wild Strains of Lentinula edodes in Three Mountains of Korea (계방산, 오대산 및 지리산 야생 표고균주의 유전적 변이)

  • Kim, Dool-Yi;Bak, Won-Chull
    • The Korean Journal of Mycology
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    • v.29 no.2
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    • pp.99-103
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    • 2001
  • Genetic variation of the wild strains of Lentinula edodes[(Berk.)Pegler] in three regions of Korea was investigated by analyzing random amplified polymorphic DNA (RAPD) markers. A total of 32 strains of L. edodes were collected from Mt. Kyebang (10 strains), Mt. Odae (11), and Mt. Jiri (11), respectively. The genomic DNA was amplified by polymerase chain reaction (PCR) using an arbitrary 10-mer primer. A total of 170 amplified fragments were observed, of which 161 fragments were polymorphic. The results of cluster analysis, performed on the basis of the presence or absence of amplified fragments of the same size, revealed that strains collected from both Mt. Kyebang and Mt. Odae in a single group. AMOVA analysis revealed that genetic variations between sites amounted to 12.5%, while 87.1% of total variations was explained by variations among strains within sites. Relatively high genetic relationships among the strains of Mt. Kyebang and Mt. Odae, which were high variance within populations. Whereas, all the strains of Mt. Jiri, which were low variance among populations from both Mt. Kyebang and Mt. Odae, which resulted in genetic isolation of the strains in Mt. Jiri.

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Plasma Amino Acid and Urine Organic Acid Analyses in Leigh Syndrome (리증후군에서의 혈장 아미노산 및 소변 유기산 분석)

  • Na, Ji-Hoon;Lee, Hyunjoo;Lee, Hae-in;Huh, Euira;Lee, Young-Mock
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.22 no.1
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    • pp.28-36
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    • 2022
  • Purpose: Detection of abnormal metabolites in plasma amino acid (PAA) and urine organic acid (UOA) analyses has been used to diagnose clinical mitochondrial diseases, such as Leigh syndrome. In this study, the diagnostic values and effectiveness of PAA and UOA analyses were reviewed. Methods: This was a retrospective study of patients with Leigh syndrome who were diagnosed between 2003 and 2018 in a single tertiary care center. Through a whole mitochondrial sequencing and nuclear DNA associated mitochondrial gene panel analysis, 19 patients were found to be positive for mitochondrial DNA (mtDNA) mutation-associated Leigh syndrome, and 57 patients were negative. Their PAA and UOA analyses results were then compared. Results: In the comparison of the PAA and UOA analyses results between the two groups, no abnormal metabolites showed obvious differences between the mtDNA mutation-positive Leigh syndrome and mtDNA mutation-negative Leigh syndrome groups. Conclusion: PAA and UOA analyses are inappropriate test methods for diagnosing Leigh syndrome or screening of mtDNA mutation-associated Leigh syndrome. However, UOA analysis might still be a suitable screening test for Leigh syndrome.

RFLPs of Mitochondrial DNA in Korean Wild Soybeans

  • Ouk-Kyu, Han;Jun, Abe
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.44 no.3
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    • pp.243-247
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    • 1999
  • Mitochondrial DNA restriction fragment length polymorphisms are convenient markers for identifying cytoplasmic variation among plants. We have collected 212 wild soybeans (Glycine soja Sieb. et Zucc) from all over Korea, and classified mitochondrial genome types based on hybridization patterns in DNA gel-blot analyses using two mitochondrial DNA clones, cox2 and atp6, as probes. Korean wild soybean was classified with eight-mtDNA types, and some of the mtDNAs showed geographical clines among the regions. The diversity index of the mtDNA was much higher in the western and southern regions than in the eastern and northern regions of Korea, respectively. Dissemination and distributive characteristics of wild soybeans in Korea were discussed.

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