• Asian-Australasian Journal of Animal Sciences
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• 제20권5호
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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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• 제20권3호
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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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• 제29권2호
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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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• 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.

• 한국가금학회:학술대회논문집
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• 한국가금학회 2006년도 제23차 정기총회 및 학술발표회
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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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• 제31권6호
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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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• 제54권4호
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• pp.241-246
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• 2012

한국재래염소의 계통유전학적 위치를 확인하기 위해서 한국재래염소 4개 집단 48두를 공시한 후 mitochondrial DNA (mtDNA) 내부의 cytochrome b 유전자의 전체서열을 분석하였다. 또한 이 서열들을 이용하여 한국재래염소의 유전적 다양성을 확인하였고, 다른 나라의 여러 염소품종들과의 계통유전학적 분석을 수행하였다. 한국재래염소 cytochrome b 유전자 서열을 토대로 3개의 염기변이가 동정되었으며, 그 중 2개는 아미노산 치환을 일으키는 missense 변이로 확인되었다. 또한 4개의 haplotype으로 분류되었는데, 이 중 3개는 중국 재래염소 품종에서도 나타났으나 다른 나라의 품종에서는 확인되지 않았다. 계통유전학적 분석 결과 모든 재래흑염소는 4개의 clade를 형성하였으나, 5개의 야생염소와는 독립적인 그룹을 형성하였다. 한국재래염소는 mtDNA D-loop에 분류되는 여러 모계혈통 중 모계혈통-A로 추정되는 clade 1에 포함되었다. 한국재래염소에서 보여진 각각의 haplotype은 중국 재래염소품종들과 상대적으로 가까운 유전적 유연관계를 보였다. 기존 연구결과와 본 연구의 분석결과를 종합해보면 과거에 일부 중국 재래 염소품종이 한반도로 유입되어 한국재래염소의 기원 및 가축화에 영향을 주었을 것으로 사료된다.

• Asian Pacific Journal of Cancer Prevention
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• 제13권8호
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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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• 제24권2호
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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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• 제20권4호
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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.