• Title/Summary/Keyword: mtDNA D-Loop Region

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Characteristics of Hypervariable Regions of Mitochondrial DNA in Korean Population

  • Han, Jae-Seok;Lee, Dong-Hoon;Rho, Hyune-Mo
    • BMB Reports
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    • v.31 no.6
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    • pp.604-606
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    • 1998
  • The nucleotide sequence of two hypervariable regions of the D-loop and the frequency of the 9-bp repeat in the region V of mitochondrial DNA (mtDNA) were investigated in the Korean population. Alignment of these sequences with the published reference revealed a unique pattern of base substitution and deletion compared with those of other races. The deletion and addition frequency of the 9-bp repeat in the region V was also distinct.

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Phylogenetic Relationships of Jeju Dogs to Other Domestic and Foreign Dog Breeds Determined by Using mtDNA D-loop Sequences (mtDNA D-loop의 염기서열에 의한 제주견과 우리나라 재래견 및 외국견품종과의 유연관계)

  • Kim, Mi-Gyoung;Kim, Nam-Young;Lee, Sung-Soo;Kim, Ky-IL;Yang, Young-Hoon
    • Journal of Animal Science and Technology
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    • v.53 no.4
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    • pp.303-310
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    • 2011
  • Phylogenetic relationships of Jeju dogs to other domestic and foreign dog breeds were assessed using mtDNA D-loop sequences. Neighbor-joining trees were constructed using complete sequences (970 bp excluding the tandem repeat region) determined for five Cheju, four Jindo, four Sapsaree, five Pungsan, two of each East and West Laika dogs (Canis familiaris), two gray wolves (Canis lupus) and two coyotes (Canis latrans) and also published complete sequences for dogs. Coyote sequences were used as outgroups. In addition, a total of 214 haplotypes of 598bp D-loop sequences from 30 dog breeds were collected from GenBank and used to investigate genetic structure of population. In the analyses of full D-loop sequence variation and the phylogenetic trees constructed by neighbor-joining method, neither haplotypes nor clades specific for any domestic dog breeds were observed. The inter-species sequence variation (4.51%) between domestic dogs and wolves was much higher than the intra-species sequence variation within domestic dogs (1.63%) and wolves (3.64%). The divergence of the dog and wolf occurred approximately 1~2 million years ago based on these values. The taxa of Jeju dog breed in the phylogenetic tree are clustered separately and intermingled with other taxa of breeds, suggesting that active crossbreeding of Jeju dogs with other domestic breeds.

Complete Mitochondrial Genome Sequence and Genetic Diversity of Duroc Breed (돼지 Duroc 품종에서 미토콘드리아 유전체 서열의 특성과 집단의 유전적 다양성)

  • Cho, 1.C.;Han, S.H.;Choi, Y.L.;Ko, M.S.;Lee, J.G;Lee, J.H;Jeon, J .T
    • Journal of Animal Science and Technology
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    • v.46 no.6
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    • pp.937-946
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    • 2004
  • Duroc is widely used to improve the meat quality and productivity. To elucidate the phylogenetic relation and the sequence specificity for the maternal property, the complete sequence of mitochondrial genome was determined and the population diversity of Duroc was investigated in this study. The length of mtDNA tested is 16,584-bp. There are several insertion/deletion mutations in the control region and coding regions for tRNA and rRNA, respectively, but not in peptide-coding regions. Four peptide-coding genes(COⅡ, COⅢ, ND3 and ND4) showed incomplete termination codon sequences such as T--, and two(ND2 and ND4L) did alternative initiation codons(AIC), respectively. Especially, the initiation codon sequences of ND2 gene were polymorphic in this population. Polymorphisms were detected in 11-bp duplication motif within control region as well as ND2 and CYTB. Variation patterns observed from the tests on three mtDNA regions were linked completely and then two haplotypes obtained from combining the data dividing this population. Duroc mtDNA is observed at the European pig cluster in the phylogenetic tree, however, the results from the population analyses supported previous opinions. This study suggests that the breed Duroc was mainly originated from the European pig lineage, and Asian lineage was also used to form the pig breed Duroc as maternal progenitors.

Mitochondrial D-Loop Polymorphism and Microsatellite Instability in Prostate Cancer and Benign Hyperplasia Patients

  • Ashtiani, Zahra Ousati;Heidari, Mansour;Hasheminasab, Sayed-Mohammad;Ayati, Mohsen;Rakhshani, Naser
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.8
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    • pp.3863-3868
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    • 2012
  • In this study mitochondrial D-Loop variations in Iranian prostate cancer and benign prostatic hyperplasia (BPH) patients were investigated. Tumour samples and corresponding non-cancerous prostate tissue from 40 prostate cancer patients and 40 age-matched BPH patients were collected. The entire mtD-loop region (16024-576) was amplified using the PCR method and products were gel-purified and subjected to direct nucleotide sequencing. A total of 129 variations were found, the most frequent being 263A${\rightarrow}$G and 310T${\rightarrow}$C among both BPH and prostate cancer patients. Variation of 309 C${\rightarrow}$T was significantly more frequent in prostate cancer patients (P value<0.05). Four novel variations were observed on comparison with the MITOMAP database. Novel variations were np16154delT, np366G${\rightarrow}$A, np389G${\rightarrow}$A and 56insT. There was no correspondence between the different variations and the age of subjects. Considering that D-loop variations were frequent in both BPH and prostate cancer patients in our study, the fact that both groups had high average age can be a possible contributing factor. D-loop polymorphisms and microsatellite instability can influence cell physiology and result in a benign or malignant phenotype. Significantly higher frequency of 309 C${\rightarrow}$T variation in cancer patients is a notable finding and must be a focus of attention in future studies.

Mitochondrial D-Loop Variations for Discrimination of Commercial Korean Native Chicken Populations

  • Sultana, Hasina;Hoque, Md. Rashedul;Seo, Dong-Won;Kang, Bo-Seok;Heo, Kang-Nyeong;Jo, Cheorun;Lee, Jun-Heon
    • Korean Journal of Poultry Science
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    • v.39 no.4
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    • pp.311-315
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    • 2012
  • The increasing demand for Korean native chicken meat indicates that the discovery of haplotypes is very important from both economic and conservation points of view. In this study, mtDNA D-loop sequences from two crossbred Korean native chicken populations of 138 individuals were investigated. Twenty six nucleotide substitutions were identified from sequence analysis and were classified into 12 haplotypes. The haplotype H_8 represents 73.47% of Woorimatdag (chicken population) sequences, which were identified in all five Woorimatdag chicken populations investigated. The H_7 haplotype (Dhap1) for D population covers 45% sequences, which indicate maternal inheritance from black Korean native chicken. On the other hand, Chap3 and Chap4 for C population are specific haplotypes, as H_5 and H_2, respectively. Based on the network profiles, six SNPs (C199T, A239G, G242A, A291G, T330C and C391A) of the D-loop region are effective markers for discrimination between Woorimatdag and Hanhyup chicken populations. Also, the phylogenetic analyses of Woorimatdag and Hanhyup chicken populations were used to identify the genetic relationships among the haplotypes. The results presented here can be used for developing molecular markers to discriminate between two commercial Korean native chickens.

The Robust Phylogeny of Korean Wild Boar (Sus scrofa coreanus) Using Partial D-Loop Sequence of mtDNA

  • Cho, In-Cheol;Han, Sang-Hyun;Fang, Meiying;Lee, Sung-Soo;Ko, Moon-Suck;Lee, Hang;Lim, Hyun-Tae;Yoo, Chae-Kyoung;Lee, Jun-Heon;Jeon, Jin-Tae
    • Molecules and Cells
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    • v.28 no.5
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    • pp.423-430
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    • 2009
  • In order to elucidate the precise phylogenetic relationships of Korean wild boar (Sus scrofa coreanus), a partial mtDNA D-loop region (1,274 bp, NC_000845 nucleotide positions 16576-1236) was sequenced among 56 Korean wild boars. In total, 25 haplotypes were identified and classified into four distinct subgroups (K1 to K4) based on Bayesian phylogenetic analysis using Markov chain Monte Carlo methods. An extended analysis, adding 139 wild boars sampled worldwide, confirmed that Korean wild boars clearly belong to the Asian wild boar cluster. Unexpectedly, the Myanmarese/Thai wild boar population was detected on the same branch as Korean wild boar subgroups K3 and K4. A parsimonious median-joining network analysis including all Asian wild boar haplotypes again revealed four maternal lineages of Korean wild boars, which corresponded to the four Korean wild boar subgroups identified previously. In an additional analysis, we supplemented the Asian wild boar network with 34 Korean and Chinese domestic pig haplotypes. We found only one haplotype, C31, that was shared by Chinese wild, Chinese domestic and Korean domestic pigs. In contrast to our expectation that Korean wild boars contributed to the gene pool of Korean native pigs, these data clearly suggest that Korean native pigs would be introduced from China after domestication from Chinese wild boars.

Complete Mitochondrial Genome Sequences of Chinese Indigenous Sheep with Different Tail Types and an Analysis of Phylogenetic Evolution in Domestic Sheep

  • Fan, Hongying;Zhao, Fuping;Zhu, Caiye;Li, Fadi;Liu, Jidong;Zhang, Li;Wei, Caihong;Du, Lixin
    • Asian-Australasian Journal of Animal Sciences
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    • v.29 no.5
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    • pp.631-639
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    • 2016
  • China has a long history of sheep (Ovis aries [O. aries]) breeding and an abundance of sheep genetic resources. Knowledge of the complete O. aries mitogenome should facilitate the study of the evolutionary history of the species. Therefore, the complete mitogenome of O. aries was sequenced and annotated. In order to characterize the mitogenomes of 3 Chinese sheep breeds (Altay sheep [AL], Shandong large-tailed sheep [SD], and small-tailed Hulun Buir sheep [sHL]), 19 sets of primers were employed to amplify contiguous, overlapping segments of the complete mitochondrial DNA (mtDNA) sequence of each breed. The sizes of the complete mitochondrial genomes of the sHL, AL, and SD breeds were 16,617 bp, 16,613 bp, and 16,613 bp, respectively. The mitochondrial genomes were deposited in the GenBank database with accession numbers KP702285 (AL sheep), KP981378 (SD sheep), and KP981380 (sHL sheep) respectively. The organization of the 3 analyzed sheep mitochondrial genomes was similar, with each consisting of 22 tRNA genes, 2 rRNA genes (12S rRNA and 16S rRNA), 13 protein-coding genes, and 1 control region (D-loop). The NADH dehydrogenase subunit 6 (ND6) and 8 tRNA genes were encoded on the light strand, whereas the rest of the mitochondrial genes were encoded on the heavy strand. The nucleotide skewness of the coding strands of the 3 analyzed mitogenomes was biased toward A and T. We constructed a phylogenetic tree using the complete mitogenomes of each type of sheep to allow us to understand the genetic relationships between Chinese breeds of O. aries and those developed and utilized in other countries. Our findings provide important information regarding the O. aries mitogenome and the evolutionary history of O. aries inside and outside China. In addition, our results provide a foundation for further exploration of the taxonomic status of O. aries.

Clinicopathologic Characteristics and Prognoses for Multicentric Occurrence and Intrahepatic Metastasis in Synchronous Multinodular Hepatocellular Carcinoma Patients

  • Li, Shi-Lai;Su, Ming;Peng, Tao;Xiao, Kai-Yin;Shang, Li-Ming;Xu, Bang-Hao;Su, Zhi-Xiong;Ye, Xin-Ping;Peng, Ning;Qin, Quan-Lin;Chen, De-Feng;Chen, Jie;Li, Le-Qun
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.1
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    • pp.217-223
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    • 2013
  • Background: Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide, and the outcomes for patients are still poor. It is important to determine the original type of synchronous multinodular HCC for preoperative assessment and the choice of treatment therapy as well as for the prediction of prognosis after treatment. Aims: To analyze clinicopathologic characteristics and prognoses in patients with multicentric occurrence (MO) and intrahepatic metastasis (IM) of synchronous multinodular hepatocellular carcinoma (HCC). Methods: The study group comprised 42 multinodular HCC patients with a total of 112 nodules. The control group comprised 20 HCC patients with 16 single nodular HCC cases and 4 HCC cases with a portal vein tumor emboli. The mitochondrial DNA (mtDNA) D-loop region was sequenced, and the patients of the study group were categorized as MO or IM based on the sequence variations. Univariate and multivariate analyses were used to determine the important clinicopathologic characteristics in the two groups. Results: In the study group, 20 cases were categorized as MO, and 22 as IM, whereas all 20 cases in the control group were characterized as IM. Several factors significantly differed between the IM and MO patients, including hepatitis B e antigen (HBeAg), cumulative tumor size, tumor nodule location, cirrhosis, portal vein and/or microvascular tumor embolus and the histological grade of the primary nodule. Multivariate analysis further demonstrated that cirrhosis and portal vein and/or microvascular tumor thrombus were independent factors differentiating between IM and MO patients. The tumor-free survival time of the MO subjects was significantly longer than that of the IM subjects ($25.7{\pm}4.8$ months vs. $8.9{\pm}3.1$ months, p=0.017). Similarly, the overall survival time of the MO subjects was longer ($31.6{\pm}5.3$ months vs. $15.4{\pm}3.4$ months, p=0.024). The multivariate analysis further demonstrated that the original type (p=0.035) and Child-Pugh grade (p<0.001) were independent predictors of tumor-free survival time. Cirrhosis (p=0.011), original type (p=0.034) and Child-Pugh grade (p<0.001) were independent predictors of overall survival time. Conclusions: HBeAg, cumulative tumor size, tumor nodule location, cirrhosis, portal vein and/or microvascular tumor embolus and histological grade of the primary nodule are important factors for differentiating IM and MO. MO HCC patients might have a favorable outcome compared with IM patients.