• 한국동물학회:학술대회논문집
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• 한국동물학회 1997년도 공동 춘계학술대회
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• pp.74.2-74
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• 1997

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• Animal cells and systems
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• 제3권4호
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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.

• 한국동물생명공학회지
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• 제35권2호
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• pp.198-206
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• 2020

Food and agricultural production sector, especially livestock production is vital for Mongolia's economic and social development. Domestic sheep play key roles for Mongolians, providing food (meat, milk) and raw materials (wool, sheepskin), but genetic diversity, origin of sheep populations in Mongolia have not been well studied. Studies of population genetic diversity is important research field in conservation and restoration of animal breeds and genetic resources. Therefore, this study aimed to investigate genetic characteristics and estimate origin through the analysis of mitochondrial DNA control region D-loop and Cytochrome b of Mongolian indigenous sheep (Mongolian native, Orkhon and Altanbulag) and one Europe sheep (Suffolk). As a result of there were found, 220 SNPs (Single nucleotide polymorphism) in the D-loop region, 28 SNPs in the Cytochrome B region, furthermore, 77 Haplotypes. The nucleotide diversity was only found in D-loop region (n = 0.0184). Phylogenetic analysis showed that 3 (A, B, and C) of 5 haplogroups of sheep have been identified in our research. Haplogroup C was only found in Mongolian indigenous sheep. Haplogroup D and E were not observed. As a result of haplogroups, haplogroup A was dominant (n = 46 of 94 sheeps), followed by haplogroup B (n = 36) and haplogroup C (n = 12). Sequence analysis showed that T deletion, insertion and heteroplasmy in D-loop region occurred at a high rate in Mongolian indigenous sheep population (T insertion = 47, T deletion = 83). The heteroplasmy, which has never been found in Mongolian sheep, has been newly discovered in this study. As a result, the Mongolian sheep varieties, which mainly derived from Asia, were in hybridization with European sheep varieties.

• 한국동물학회지
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• 제35권2호
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• pp.219-225
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• 1992

The genetic variation in mitochondrial DNA (mtDNA) was analysed within and between two species of tree frogs. Hyla japonica and H. suweonensis from South Korea. Purified mtDNAs were digested with each of 11 restriction enLvmes which cleave at six base recognition sequences. The genome size of H. iaponica revealed ho types (20.0 $\pm$ 0.3 and 19.6 $\pm$ 0.3 kb) and this difference is explained by either addition or deletion of about 0.4 kb fragment. On the other hand, the genome sire of H. suueonensis was about 19.0 $\pm$ 0.4 kb only. For the analysis, level of fragment homology (F) and nucleotide sequence divergence (p) were estimated from comparisons of digestion profiles. Among four populations of H. iaponica, substantial mean sequence divergence was 0.017 (range 0.001-0.026); between identical types, 0.001 IslilaRl type) and 0.004 (Large type) respectively; between different ones, 0.024 (range 0.023-0.026). The level of sequence divergence between he species was 0.142 (range 0.131-0.146). This result suggested that he species ㅂwere distinctly differentiated species. The divergence time between ko species was estimated 7.1 million years.

• Childhood Kidney Diseases
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• 제16권2호
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• pp.73-79
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• 2012

목적: 일부 사구체 질환 그리고 말기 신부전 환자를 대상으로 한 연구들에서 특정 부위의 돌연변이와 deletion 그리고 미토콘드리아 DNA copy 수 등이 예후적인 경과와 관련이 있다는 주장이 제기되었다. 연구자들은 소아 IgA 신병증 환자를 대상으로 혈소판을 이용한 미토콘드리아 DNA 전체 염기서열 분석을 실시하였다. 방법: 인제의대 부산백병원 소아청소년과에서 신생검을 실시하여 IgA 신병증으로 확진된 7명의 환자를 대상으로 하였다. 대상 환아들은 동반된 전신질환이 없고 가족력상 신장질환이 없는 경우로 국한 하였다. 신생검 당시 혈청 크레아티닌 치와 사구체 여과율은 모두에서 정상 범위였으며, 각각의 연령 대에 정상 범위의 혈압을 보였다. 환자의 성별은 남자 4명 여자 3명 이었다. 환자들은 단백뇨의 정도에 따라 두 군으로 분류하였다. 결과: 신생검 당시 환자들의 평균 나이는 $11.5{\pm}2.2$세 였으며 최종 추적검사 당시의 나이는 평균 $17.9{\pm}3.2$세 였다. 환자들의 평균 추적관찰 기간은 평균 $7.8{\pm}3.1$년 이었다. 환자들은 입원당시 단백뇨의 정도에 따라 2군으로 분류하였다. 1군은 입원당시 단백뇨가 동반되지 않았던 환자들이며 2군은 신증후군의 임상 양상을 보인 환자들이었다. 최종 추적 관찰 당시 양군의 혈청 크레아티닌 치, BUN은 모두 정상 범위였다. 혈청 알부민 치는 2군에서 $3.7{\pm}0.6g/dL$로 1군의 $4.7{\pm}0.2g/dL$에 비해 유의하게 낮았으며(P=0.0241), 혈청 콜레스테롤치는 2군에서 $222.7{\pm}35.7mg/dL$로 1군의 $148.3{\pm}29.1mg$ 보다 유의하게 높았다(P=0.0283). 24시간 채집뇨상의 총단백량도 2군에서 $1,466.0{\pm}742.5\;gm$으로 1군의 $122.5{\pm}48.1\;gm$에 비해 유의하게 높았다(P=0.0135). 단회 소변을 이용한 단백/크레아티닌 비는 2군에서 $1.8{\pm}1.6$으로 1군의 $0.2{\pm}0.2$에 비해 높았으나(P=0.0961), 통계적인 유의성은 없었다. 2명의 환자에서 8,272-8,281(CCCCCTCTA) 부위 염기서열 누락을 관찰되었다. 단백뇨 정도에 따라 분류한 두군 모두에서 각각 한명씩 염기 서열의 누락이 있었다. 누락된 부위는 미토콘드리아 유래 발현되는 단백질 서열 등에 관련 없는 비부호화부위(non coding region) 이었다. 8,272-8,281 부위를 제외한 미토콘드리아 DNA 염기서열은 모두 정상이었다. 결론: 소아 IgA 신병증에서도 mtDNA common deletion이 증명됨으로해서 향후 소아 IgA 신병증에서 미토콘드리아의 기능 이상이 진행성 임상적 경과에 어떠한 영향을 미칠 수 있는 지에 대한 추가 연구가 필요하다고 생각한다.

• The Plant Pathology Journal
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• 제38권5호
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• pp.541-549
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• 2022

Potato late blight caused by Phytophthora infestans is a destructive disease in Korea. To elucidate the genomic variation of the mitochondrial (mt) genome, we assembled its complete mt genome and compared its sequence among different haplotypes. The mt genome sequences of four Korean P. infestans isolates were revealed by Illumina HiSeq. The size of the circular mt genome of the four major genotypes, KR_1_A1, KR_2_A2, SIB-1, and US-11, was 39,872, 39,836, 39,872, and 39,840 bp, respectively. All genotypes contained the same 61 genes in the same order, comprising two RNA-encoding genes, 16 ribosomal genes, 25 transfer RNA, 17 genes encoding electron transport and ATP synthesis, 11 open reading frames of unknown function, and one protein import-related gene, tatC. The coding region comprised 91% of the genome, and GC content was 22.3%. The haplotypes were further analyzed based on sequence polymorphism at two hypervariable regions (HVRi), carrying a 2 kb insertion/deletion sequence, and HVRii, carrying 36 bp variable number tandem repeats (VNTRs). All four genotypes carried the 2 kb insertion/deletion sequence in HVRi, whereas HVRii had two VNTRs in KR_1_A1 and SIB-1 but three VNTRs in US-11 and KR_2_A2. Minimal spanning network and phylogenetic analysis based on 5,814 bp of mtDNA sequences from five loci, KR_1_A1 and SIB-1 were classified as IIa-6 haplotype, and isolates KR_1_A2 and US-11 as haplotypes IIa-5 and IIb-2, respectively. mtDNA sequences of KR_1_A1 and SIB-1 shared 100% sequence identity, and both were 99.9% similar to those of KR_2_A2 and US-11.

• Molecules and Cells
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• 제38권12호
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• pp.1054-1063
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• 2015

Mitochondria play a crucial role in eukaryotic cells; the mitochondrial electron transport chain (ETC) generates adenosine triphosphate (ATP), which serves as an energy source for numerous critical cellular activities. However, the ETC also generates deleterious reactive oxygen species (ROS) as a natural byproduct of oxidative phosphorylation. ROS are considered the major cause of aging because they damage proteins, lipids, and DNA by oxidation. We analyzed the chronological life span, growth phenotype, mitochondrial membrane potential (MMP), and intracellular ATP and mitochondrial superoxide levels of 33 single ETC component-deleted strains during the chronological aging process. Among the ETC mutant strains, 14 ($sdh1{\Delta}$, $sdh2{\Delta}$, $sdh4{\Delta}$, $cor1{\Delta}$, $cyt1{\Delta}$, $qcr7{\Delta}$, $qcr8{\Delta}$, $rip1{\Delta}$, $cox6{\Delta}$, $cox7{\Delta}$, $cox9{\Delta}$, $atp4{\Delta}$, $atp7{\Delta}$, and $atp17{\Delta}$) showed a significantly shorter life span. The deleted genes encode important elements of the ETC components succinate dehydrogenase (complex II) and cytochrome c oxidase (complex IV), and some of the deletions lead to structural instability of the membrane-$F_1F_0$-ATP synthase due to mutations in the stator stalk (complex V). These short-lived strains generated higher superoxide levels and produced lower ATP levels without alteration of MMP. In summary, ETC mutations decreased the life span of yeast due to impaired mitochondrial efficiency.

• 분석과학
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• 제18권4호
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• pp.362-367
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• 2005

미토콘드리아 DNA 염기서열 분석결과는 개인식별 및 신원확인에 매우 유용하게 활용되어지고 있다. 본 연구에서는 한국인 360명을 대상으로 미토콘드리아 DNA 조절부위 HV1에서의 염기서열 다양성에 대해 분석하였다. 염기서열 분석결과 124 곳에서의 변이로부터 210 종류의 haplotypes를 얻을 수 있었다. 이 중에서 55개의 haplotypes는 2명 이상의 사람에게서 발견되었으며, 나머지 155 haplotypes는 오직 한명씩만이 보여주었다. 변이는 C-T 치환이 가장 많았으며, 특히 16223 위치에서는 전체 시료의 75.8%에서 C-T 치환이 발견되었다. 또한 16180에서 16193까지의 14 염기에 대한 염기 다형성을 분석한 결과 20가지의 변이가 발견되었다. 한국인 집단에서 가장 흔한 haplotype은 전체 시료의 5%에 해당하는 [16223T, 16362C]이었으며, [16223T, 16274T, 16362C]가 2.5%로 그 뒤를 이었다. 또한 전체 시료의 25.9%는 적어도 두 시료에서 동일한 haplotype을 나타내었다. Gene diversity는 0.996, 두 사람이 우연히 같은 haplotype을 가질 확률은 0.7%이었다.

• Journal of Microbiology and Biotechnology
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• 제23권10호
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• pp.1386-1394
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• 2013

In our previous study, the 25-mer antimicrobial peptide pleurocidin (Ple) had been thought to induce apoptosis in Candida albicans. This study demonstrated that reactive oxygen species (ROS) production was a major cause of Ple-induced apoptosis. Four truncated analogs were synthesized to understand the functional roles in the N- and C-terminal regions of Ple on the apoptosis. Ple, Ple (4-25), Ple (1-22), and Ple (1-19) produced ROS, including hydroxyl radicals, on the order of [Ple > Ple (1-22) > Ple (4-25) > Ple (1-19)], whereas Ple (7-25) did not induce any ROS production. The results suggested that the N-terminal deletion affected the ROS-inducing activities much more than that of the C-terminal deletion, and net hydrophobicity [Ple > Ple (1-22) > Ple (4-25) > Ple (1-19) > Ple (7-25)] was related to ROS generation rather than other primary factors like net charge. Hence, we focused on the N-terminal-truncated peptides, Ple (4-25) and Ple (7-25), and examined other apoptotic features, including mitochondrial membrane depolarization, caspase activation, phosphatidylserine externalization, and DNA and nuclear fragmentation. The results also confirmed the disappearance of apoptotic activity of Ple (7-25) by the truncation of the N-terminal region (1-6) and the specific activity patterns between Ple and analogs. In conclusion, the N-terminal region of Ple played an important role in apoptosis.

• Journal of Animal Science and Technology
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• 제46권6호
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• pp.937-946
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• 2004

Duroc 품종은 돼지 사육에 있어 산육성과 육질 향상을 위해 이용되고 있다. 본 연구는 육종에 많이 이용되는 Duroc 품종의 모계 특이적인 서열의 검색과 계통유전학적 유연관계의 정립을 위하여 미토콘드리아 유전체의 전체 염기서열을 결정하고 집단 내 다형성을 조사하였다. mtDNA 전체 서열의 길이는 16,584-bp 이고, D-loop과 tRNA, rRNA 유전자 영역에서는 삽입/결실이 확인되었다. 4개의 coding gene (COⅡ, COⅢ, ND3, ND4)에서 불완전한 종결코돈을, ND4L과 ND2 유전자는 선택적 개시코돈 양상을 보였다. Duroc 집단에 대한 분석 결과 조절영역에서의 특이적인 11-bp 중복 단위가 일부 개체(15.2%)에서 발견되었고, ND2의 개시코돈과 CYTB 유전자에서도 다형현상을 보였다. 각각의 유전자 영역에서의 다형성은 서로 연관되어 있었고, 그 결과 Duroc 집단은 크게 두 가지 haplotype으로 구분되었다. 계통수에서 Duroc mtDNA 서열은 유럽계열 cluster에 위치하였으나, haplotype 분석과 기존에 연구결과들을 종합해 보면 Duroc 품종은 여러 모계선조 집단에서 기원한 것으로 보이며, 유럽과 아시아 계열 모두가 품종 형성에 이용된 것으로 사료된다된 것으로 사료된다.