• 한국수정란이식학회지
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• 제18권3호
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• pp.227-235
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• 2003

한우의 mt DNA cytochrome oxidase subunit I, II, 및 III complex지역의 유전적 다형현상을 제한효소를 이용하여 검출하였다. PCR primer 6종에 대하여 20가지 제한효소를 처리하였으며, Pst I, Pvu II, Rsa I, Eco RI, Bgl II, and Msp I 제한효소를 사용하여 유전적 변이를 검출하였다. 검출된 변이체와 한우의 성장과의 관련성을 조사한 결과 cytochrome oxidase subunit III complex 지역의 유전염기서열을 근거로 제작한 primer Mt9 좌위에서 제한효소 PvuII를 이용한 절단형과 체중형질 인 WT15(P<0.05) 및 WT18(P<0.01)에서 고도의 유의성이 관찰되었다. 아울러 , Mt9-Pvu II(P=0.07), Mt6-Bgl II(P=0.05), and Mt8-Rsa I(P=0.05) 좌위 또한 WT9, WTl5, and WT15에서 각각 통계적 유의성이 관찰되었다. 따라서 본 결과는 cytochrome oxidase subunit III complex segments가 candidate gene으로서 기초적 유전정 보 제공은 물론 유전적 개량을 위해 사용될 수 있을 것으로 사료된다.

• 보존과학회지
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• 제23권
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• pp.81-93
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• 2008

오늘날 고대 DNA 분석을 통한 고유전학 연구는 인류학, 고고학, 생물학 분야의 중요한 관심사로 떠오르고 있다. 본 연구는 충청남도 아산시 탕정면 명암리 유적 9지점에서 발굴조사 된 고려 말에서 조선시대 초기 분묘 출토 인골 20개체를 대상으로 고유전학적 연구를 수행한 결과를 보고한 것이다. DNA 추출 및 PCR 과정에서 연구자에 의해 일어날 수 있는 DNA 오염을 모니터링하기 위하여 모든 실험과정은 무균작업대에서 시약과 소모품을 고온멸균 및 자외선 처리하여 진행되었으며, 음성대조군을 설정하여 결과의 신뢰성을 검증하였다. 실리카 추출 방법에 의하여 출토 인골로부터 DNA를 추출한 후, 미토콘드리아 DNA(mtDNA)의 과변이지역을 9지역으로 나누어 PCR법에 의해 부분 증폭을 실시하였다. 증폭산물에 대한 염기서열 분석을 통하여 과변이지역의 변이형을 동정하였으며, 이를 현대 한국인의 결과와 비교하였다. 아산 명암리 소규모 지역집단의 옛사람 인골 20개체를 대상으로 한 이번 연구에서 기대이상의 다양한 mtDNA haplogroup이 분석되었다. 이러한 결과는 오랜 세월 동안 생활문화 중심지로 자리 잡은 아산 명암리 유적 주변의 개방적인 지역적 조건과 이곳에 거주했던 개체군의 유전적 특성을 반영하고 있으며, 아산 지역에 널리 분포하는 선사시대에서 조선시대에 이르는 많은 유적에 대한 고고학적 발굴 성과가 이 결과를 뒷받침하고 있다.

• Asian-Australasian Journal of Animal Sciences
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• 제25권9호
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• pp.1223-1228
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• 2012

The population sizes of three Korean indigenous cattle populations have been drastically reduced over the past decades. In this study, we examined the extent to which reduction in populations influenced genetic diversity, population structure and demographic history using complete mitochondrial DNA (mtDNA) control region sequences. The complete mtDNA control region was sequenced in 56 individuals from Korean Black (KB), Jeju Black (JEB) and Korean Brindle (BRI) cattle populations. We included 27 mtDNA sequences of Korean Brown (BRO) from the GenBank database. Haplotype diversity estimate for the total population was high (0.870) while nucleotide diversity was low (0.004). The KB showed considerably low nucleotide (${\pi}$ = 0.001) and haplotype (h = 0.368) diversities. Analysis of molecular variance revealed a low level of genetic differentiation but this was highly significant (p<0.001) among the cattle populations. Of the total genetic diversity, 7.6% was attributable to among cattle populations diversity and the rest (92.4%) to differences within populations. The mismatch distribution analysis and neutrality tests revealed that KB population was in genetic equilibrium or decline. Indeed, unless an appropriate breeding management practice is developed, inbreeding and genetic drift will further impoverish genetic diversity of these cattle populations. Rational breed development and conservation strategy is needed to safeguard these cattle population.

• Asian-Australasian Journal of Animal Sciences
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• 제25권7호
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• pp.921-926
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• 2012

In order to protect the genetic resource of native horse breeds, the genetic diversity of mitochondrial DNA (mtDNA) D-loop of three native horse breeds in western China were investigated. Forty-three 600 bp mtDNA D-loop sequences were analyzed by PCR and sequencing techniques, 33 unique haplotypes with 70 polymorphic sites were detected in these horses, which account for 11.67% of 600 bp sequence analyzed, showing the abundant genetic diversity of the three native horse breeds in western China. The Neighbour-Joining (NJ) phylogenetic tree based on 247 bp of 43 D-loop sequences demonstrated the presence of seven major lineages (A to G), indicating that the three native horse breeds in western China originated from multiple maternal origins. Consistent with the front, the NJ phylogenetic tree based on 600 bp of mtDNA D-loop sequences of 43 Chinese western native horses and 81 sequences of six horse breeds from GenBank indicated that the three horse breeds had distributed into the seven major lineages (A to G). The structure of the phylogenic tree is often blurred because the variation in a short segment of the mitochondrial genome is often accompanied by high levels of recurrent mutations. Consequently, longer D-loop sequences are helpful in achieving a higher level of molecular resolution in horses.

• Asian Pacific Journal of Cancer Prevention
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• 제15권23호
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• pp.10433-10438
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• 2015

Background: Acute lymphoblastic leukemia (ALL) is the most common cancer diagnosed in children and represents approximately 25% of cancer diagnoses among those younger than 15 years of age. Aim and Objectives: This study investigated substitutions in the ATP synthase subunit 6 gene of mitochondrial DNA (mtDNA) as a potential diagnostic biomarker for early detection and diagnosis of acute lymphoblastic leukemia. Based on mtDNA from 23 subjects diagnosed with acute lymphoblastic leukemia, approximately 465 bp of the ATP synthase subunit 6 gene were amplified and sequenced. Results: The sequencing revealed thirty-one mutations at 14 locations in ATP synthase subunit 6 of mtDNA in the ALL subjects. All were identified as single nucleotide polymorphisms (SNPs) with a homoplasmic pattern. The mutations were distributed between males and females. Novel haplotypes were identified in this investigation: haplotype (G) was recorded in 34% in diagnosed subjects; the second haplotype was (C) with frequency of 13% in ALL subjects. Neither of these were observed in control samples. Conclusions: These haplotypes were identified for the first time in acute lymphoblastic leukemia patients. Five mutations able to change amino acid synthesis for the ATP synthase subunit 6 were associated with acute lymphoblastic leukemia. This investigation could be used to provide an overview of incidence frequency of acute lyphoblastic leukemia (ALL) in Saudi patients based on molecular events.

• 한국가금학회지
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• 제38권1호
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• pp.5-12
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• 2011

우리나라 재래닭의 기원을 구명하기 위해서 mtDNA D-loop 영역을 분석한 결과, 1,231~1,232개의 염기구성되어 있으며, 35개소에서 변이가 관찰되었다. 변이 부위를 이용하여 Haplotype을 분류한 결과, 21종으로 분류되었으며 이중 9개인 GenBank에 미등록된 것으로 밝혀졌다. Hplotype 다양성으로 추정한 한국 재래닭의 유전적 변이성은 중국의 재래닭과 유사한 것으로 추정되었다. Haplotype에 대한 Network 분석 결과, 재래닭은 5개의 Clade로 분류되었다. 이들 Clade에 대한 각 집단의 분포 현황으로 한국 재래닭은 운남성 및 중국 재래닭이 보인 결과와 유사하나, 일본의 재래닭과는 약간 상이한 것으로 밝혀졌다. 이상의 결과로 우리나라 재래닭은 공통선조가 다른 5개 이상의 모계가 중국을 통하여 유래되었으며, 일본에도 전파된 것이 확인되었다. 한편, 일본은 한반도를 유래하지 않은 닭의 유입이 있었던 것으로 추정된다.

• 보존과학연구
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• 통권25호
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• pp.47-74
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• 2004

We investigated the nucleotide substitution and insertion polymorphism of the hypervariable region Ⅰ and Ⅱ in mt DNA by sequencing ancient DNA from 51 ancient bones and teeth excavated at Nuk-do and Yimdang-dong in Korea. It revealed 35 sequence types from the ancient Korean. Of these, different sequences were 34 sequences. There were 19 and 38 base substitutions in HVI and HVⅡ, respectively. Some substitutions were characteristic of East Asian populations as compared with data reported on Caucacianpopulations,16051, 16150, 16172, 16223 in region I and 73, 263 in region II were noted as polymorphic sites, respectively. These were distributed evenly along the control region, though the frequency of each site was variable. Nucleotide substitution rather than insertion and deletion was the prevalent pattern of variation. Insertion of cytosine between312 and 315 in region HVⅡ were detected up to 98% in 51 ancient bone samples. This sequence data represents a phylogenetic tree using NTI DNA Suite computer program. The phylogenetic tree showed that mt DNA sequences of Nuk-do bones were relative to west Siberian and Indonesian. The usefulness of mt DNA sequencing in ancient Korean population excavated atarchaeological sites is based on biological and historical evidence for origin and migration of ancient Korean.

• Asian-Australasian Journal of Animal Sciences
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• 제29권12호
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• pp.1688-1695
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• 2016

The maternally inherited mitochondrial DNA (mtDNA) D-loop region is widely used for exploring genetic relationships and for investigating the origin of various animal species. Currently, domestic ducks play an important role in animal protein supply. In this study, partial mtDNA D-loop sequences were obtained from 145 samples belonging to six South-East Asian duck populations and commercial duck population. All these populations were closely related to the mallard duck (Anas platyrhynchos), as indicated by their mean overall genetic distance. Sixteen nucleotide substitutions were identified in sequence analyses allowing the distinction of 28 haplotypes. Around 42.76% of the duck sequences were classified as Hap_02, which completely matched with Anas platyrhynchos duck species. The neighbor-joining phylogenetic tree also revealed that South-East Asian duck populations were closely related to Anas platyrhynchos. Network profiles were also traced using the 28 haplotypes. Overall, results showed that those duck populations D-loop haplotypes were shared between several duck breeds from Korea and Bangladesh sub continental regions. Therefore, these results confirmed that South-East Asian domestic duck populations have been domesticated from Anas platyrhynchos duck as the maternal origins.

• 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.

• BMB Reports
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• 제52권2호
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• pp.151-156
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• 2019

RAD51 recombinase plays a critical role in homologous recombination and DNA damage repair. Here we showed that expression of RAD51 is frequently upregulated in lung cancer tumors compared with normal tissues and is associated with poor survival (hazard ratio (HR) = 2, P = 0.0009). Systematic investigation of lung cancer cell lines revealed higher expression of RAD51 in KRAS mutant (MT) cells compared to wildtype (WT) cells. We further showed that MT KRAS, but not WT KRAS, played a critical role in RAD51 overexpression via MYC. Moreover, our results revealed that KRAS MT cells are highly dependent on RAD51 for survival and depletion of RAD51 resulted in enhanced DNA double strand breaks, defective colony formation and cell death. Together, our results suggest that mutant KRAS promotes RAD51 expression to enhance DNA damage repair and lung cancer cell survival, suggesting that RAD51 may be an effective therapeutic target to overcome chemo/radioresistance in KRAS mutant cancers.