• Asian-Australasian Journal of Animal Sciences
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• v.20 no.5
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• pp.645-652
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• 2007

The origin of domestic donkeys in China has been controversial. To clarify the origin of Chinese domestic donkeys, we investigated the partial mitochondrial D-loop sequences of 126 samples from 12 native breeds. The results revealed two mitochondrial origins, lineage Somali and lineage Nubian of African wild ass detected in Chinese domestic donkeys. Lineage Somali was predominant in Chinese domestic donkey breeds. The pattern of genetic variation in ass mtDNA D-loop sequences indicated that the two lineages Somali and Nubian from China had undergone population expansion events. In a combined analysis of lineages Somali and Nubian between previously published sequences from other countries/regions and sequences of Chinese domestic donkeys, the results indicated that the two lineages of Chinese domestic donkeys were from Africa and supported the African maternal origins of Chinese domestic donkeys. There was no obvious geographical structure in Chinese domestic donkey breeds, but the population showed abundant mtDNA diversity. The spread routes of Chinese domestic donkeys were also discussed.

• Molecules and Cells
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• v.20 no.3
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• pp.325-330
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• 2005

Ancient cattle bones were excavated from archaeological sites in Jeju, Korea. We used molecular genetic techniques to identify the species and establish its relationship to extant cattle breeds. Ancient DNA was extracted from four sources: a humerus (Gonae site, A.D. 700-800), two fragments of radius, and a tooth (Kwakji site, A.D. 0-900). The mitochondrial DNA (mtDNA) D-loop regions were cloned, sequenced, and compared with previously reported sequences of various cattle breeds (9 Asian, 8 European, and 3 African). The results revealed that these bones were of the breed, Bos taurus, and a phylogenetic tree indicated that the four cattle bones formed a monophyletic group with Jeju native black cattle. However, the patterns of sequence variation and reports from archaeological sites suggest that a few wild cattle, with a different maternal lineage, may have existed on Jeju Island. Our results will contribute to further studies of the origin of Jeju native cattle and the possible existence of local wild cattle.

• Journal of Korean Neurosurgical Society
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• v.29 no.2
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• pp.188-195
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• 2000

Objective : Essential tremor(ET) is the most common movement disorder, however, there has been little agreement in the neurologic literature regarding diagnostic criteria for ET. Familial ET is an autosomal dominant disorder presenting as an isolated postural tremor. The main feature of ET is postural tremor of the arms with later involvement of the head, voice, or legs. In previous studies, it was reported that ET susceptibility was inherited in an autosomal dominant inheritance. As previous results, it would suggest that ET might be associated with defect of mitochondrial or nuclear DNA. Recent studies are focusing on molecular genetic detection of movement disorders, such as essential tremor and restless legs syndrome. Moreover, authors have analysed mitochondrial DNA(mtDNA) from the blood cell of positive control(PC) and ET patients via long and accurate polymerase chain reaction(LA PCR). Materials & Methods : Blood samples were collected from PC and 9 ET patients. Total DNA was extracted twice with phenol followed by chloroform : isoamylalcohol. For the analysis of mtDNA, LA PCR was performed by mitochondrial specific primers. Results : With this technique, deletions of large quantities were detected within several regions of mtDNA in ET patients except for D-loop and CO I regions. Conclusion : The authors believe that ET is a genentic disorder with deficiency of mitochondrial DNA multicomplexes and mitochondiral dysfunction could be one of major causative factors of ET. Mitochondrial dysfunction may play an important role in the pathogenesis and possibility of disease progression among familial group with ET patients.

• 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.

• Proceedings of the Korea Society of Poultry Science Conference
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• 2006.11a
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• pp.77-79
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• 2006

한국재래오골계는 천연기념물로 등록이 되어 있어 세계의 중요한 유전자원 중 하나이다. 현재 한국에서 사육되어 있는 오골계의 유전적 특성을 규명하기 위하여 미토콘드리아 DNA의 변이를 이용하여 계통 분석을 실시하였다. 총 31 마리의 한국재래오골계가 이 분석에 이용되었으며 10개의 haplotypes이 관찰되었다. NJ 방법으로 만들어진 계통도 분석을 통하여 이미 닭에서 알려진 A부터 C의 lineage를 포함하는 것으로 보아 한국 재래오골계는 아직도 높은 유전적 다형성을 유지하고 있음을 알 수 있었다. 이 연구 결과는 한국 재래오골계의 육종 및 보존 계획을 세우는데 유용하게 이용될 수 있을 것으로 사료된다.

• 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.

• Journal of Animal Science and Technology
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• v.54 no.4
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• pp.241-246
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• 2012

The goal of this study was to verify the phylogenetic status of the Korean native goats (KNG). We determined the complete sequence of the mitochondrial cytochrome b gene in 48 goats among four populations. We also analyzed genetic variability within goats, and a phylogenetic analysis was performed by comparison with other country's goats. Three nucleotide substitutions were detected, and two of these were missense mutations that occurred due to a substitution of amino acid. Four haplotypes were defined from KNG. Three of these haplotypes were only found in the Chinese goat. However, the other haplotype was KNG-specific. In the phylogenetic analysis, four clades (A~D) were classified among domestic goats, and the KNG was classified into clade 1 that estimated as lineage A based on the D-loop sequence. Each haplotype from the KNG was clustered closely with that of the Chinese goat. The results of haplotype distribution and phylogenetic location suggest that strong gene flow occurred from China to the Korean Peninsula.

• 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.

• Asian-Australasian Journal of Animal Sciences
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• v.24 no.2
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• pp.173-180
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• 2011

Osteocalcin (OC), a marker of bone turnover, displays patterns in relation to physiological and genetic factors. Here, we present an association study in a population of Chinese Holstein cattle (n = 24) with OC serum concentration as a phenotypic trait. We hypothesised that OC status is associated with phylogeny, vitamin D serum level and single nucleotide polymorphisms (SNPs). Mitochondrial DNA (mtDNA) was used as an unlinked marker to examine phylogeny and linkage to measured phenotypic traits of vitamin D and OC status. Following an association study with OC serum variability as the trait, genotyping of SNPs (n = 27) in OC-related genes was performed. Candidate SNPs were chosen in genes with an emphasis on the vitamin D and vitamin K pathways. Multivariant factor analysis revealed a correlation between vitamin D serum concentration and a SNP in the gene GC (rs43338565), which encodes a vitamin D-binding protein, as well as between a SNP in NFATc1 (rs42038422) and OC concentration. However, univariate analysis revealed that population structure, vitamin D serum levels and SNPs were not significant determinants of OC status in the studied group.

• Asian-Australasian Journal of Animal Sciences
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• v.20 no.4
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• pp.477-481
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• 2007

Korean Ogol chicken has been registered as a natural monument in Korea and regarded as a valuable genetic resource for the world. As an initial step to investigate the genetic structures of this breed, phylogenetic analysis and calculation of genetic diversities have been performed using mitochondrial DNA (mtDNA) sequence variations. A total of 31 Korean Ogol chicken was grouped into four haplotypes and the large haplotype was represented in 12 individuals. The unrooted neighbor-joining tree indicates that the Korean Ogol chicken shared three (A to C) major chicken lineages representing the high genetic variability of this breed. These results can be used for making the breeding and conservation strategies for the Korean Ogol chicken.