• Genomics & Informatics
• /
• v.17 no.1
• /
• pp.11.1-11.7
• /
• 2019

Athletic performance is a complex multifactorial trait involving genetic and environmental factors. The heritability of an athlete status was reported to be about 70% in a twin study, and at least 155 genetic markers are known to be related with athlete status. Mitochondrial DNA (mtDNA) encodes essential proteins for oxidative phosphorylation, which is related to aerobic capacity. Thus, mtDNA is a candidate marker for determining physical performance. Recent studies have suggested that polymorphisms of mtDNA are associated with athlete status and/or physical performance in various populations. Therefore, we analyzed mtDNA haplogroups to assess their association with the physical performance of Korean population. The 20 mtDNA haplogroups were determined using the SNaPshot assay. Our result showed a significant association of the haplogroup F with athlete status (odds ratio, 3.04; 95% confidence interval, 1.094 to 8.464; p = 0.012). Athletes with haplogroup F ($60.64{\pm}3.04$) also demonstrated a higher Sargent jump than athletes with other haplogroups ($54.28{\pm}1.23$) (p = 0.041). Thus, our data imply that haplogroup F may play a crucial role in the physical performance of Korean athletes. Functional studies with larger sample sizes are necessary to further substantiate these findings.

• Journal of Life Science
• /
• v.19 no.4
• /
• pp.467-471
• /
• 2009

The entire D-loop region of the porcine mitochondrial DNA (mtDNA) was amplified from six pig breeds (Landrace, Duroc, Large White, Korean native pig, Berkshire, and Hampshire) using a primer set designed on the basis of reported porcine mtDNA sequences. From analyses through cloning, DNA sequencing and multiple sequence alignment, an 11-bp (TAAAACACTTA) duplication was observed after known tandem repetition in the D-loop region, which promoted hetroplasmy in mtDNA. Although the existence of the 11-bp duplication has been previously reported in Duroc and Japanese native pigs, there have not been any attempts to know the characteristics of this duplication in other breeds so far. A 150 bp fragment containing the 11-duplication was amplified and typed by polyacrylamide gel electrophoresis (PAGE). All Large Whites had two duplication units and Duroc showed heteromorphic patterns, 11.2% (9/80) of the animals had the 11-bp duplication in total. On the other hand, Landrace, Berkshire, Hampshire and Korean native pigs were non-duplicated. This result showed that the 11-bp duplication could be used as a breed-specific DNA marker for distinguishing pure Landrace and Large White breeds.

• Journal of fish pathology
• /
• v.14 no.2
• /
• pp.59-64
• /
• 2001

A complementary DNA encoding metallothionein(MT), a heavy metal-responsive protein was cloned from a cartilaginous shark species. Scyliorhinus torazame. An expressed sequence tag(EST)from the shark liver, which showed high similarity with a MT gene, was isolated and its full-length sequence(390bp)was determined. The putative shark MT cDNA sequence contained an open reading frame consisting 68 amino acids and 182bp of 3-untranslated region including the poly (A+) signal. The deduced amino acid sequence was 41-54% identical to those of other animals including mammals and fish species. Tiger shark MT cDNA showed high conservation in the Cys regions. however, peculiarly contained not only additional five amino acids just prior to the conserved beta-domain but also a Ser residue at C terminal, which has not been seen in other MT sequences.

• Journal of Animal Science and Technology
• /
• v.46 no.6
• /
• pp.917-924
• /
• 2004

Using PCR-RFLP haplotyping for the mitochondrial DNA(mtDNA) fragment containing the NADH dehydrogenase 2 gene(ND2) and three tRNA genes(tRNA-Met, tRNA-Trp and tRNA-Ala), we characterized the genetic diversity of five pig breeds including Jeju native pigs. mtDNA polymorphisms showing distinct cleavage patterns were found in the pig breeds. Two digestion patterns were detected when HaeIII- and Hinfl-RFLP, and four in the Tsp5091-RFLP analyses. Combining the three restriction enzyme digestion patterns found in five different pig breeds, four mtDNA haplotypes were observed and the haplotype frequencies were significantly different by the pig breeds. A monomorphic haplotype, mtWB, was observed in both Korean wild boars and Large White pigs. Both Duroc and Landrace pigs contained two haplotypes suggesting their multiple maternal lineages. Jeju native pig has two haplotypes(mtJN and mtJD). Of these, mtJN is identified as a Jeju native pig specific haplotype. This study suggested that more than two progenitor populations have been taken part in the domestication process of the Jeju native pig population, and/or probably subsequent crossing with other pig breeds from near east Asia. Unlike with our prediction, there was no direct evidence under molecular levels on the maternal introgression of Korean wild boar in the domestication of Jeju native pigs. In conclusion, specificity of mtDNA haplotypes related to pig breeds win be useful for identifying the maternal lineage as wen as constructing the genealogical pedigree in pigs.

• Asian-Australasian Journal of Animal Sciences
• /
• v.24 no.12
• /
• pp.1637-1643
• /
• 2011

Korean native chickens are a very valuable chicken population in Korea and their prices are higher than that of commercial broilers. In order to discriminate two commercial Korean native chicken populations (CCP1 and CCP2), single nucleotide polymorphisms (SNPs) from mitochondrial (mt) DNA D-loop sequences and LEI0258 marker polymorphisms in the major histocompatibility complex (MHC) region were investigated. A total of 718 birds from nine populations were sampled and 432 mtDNA sequences were obtained. Of these, two commercial Korean native chicken populations (363 birds) were used for investigation of their genetic relationship and breed differentiation. The sequence data classified the chickens into 20 clades, with the largest number of birds represented in clade 1. Analysis of the clade distribution indicated the genetic diversity and relation among the populations. Based on the mtDNA sequence analysis, three selected SNPs from mtDNA polymorphisms were used for the breed identification. The combination of identification probability (Pi) between CCP1 and CCP2 using SNPs from mtDNA and LEI0258 marker polymorphisms was 86.9% and 86.1%, respectively, indicating the utility of these markers for breed identification. The results will be applicable in designing breeding and conservation strategies for the Korean native chicken populations and also used for the development of breed identification markers.

• Korean Journal of Fisheries and Aquatic Sciences
• /
• v.25 no.6
• /
• pp.474-484
• /
• 1992

The stock identification of small yellow croaker. Pseudosciaena Polyactis from Mokpo area was carried out using molecular biological methods such as mt-DNA restriction fragment length polymorphism(RFLP) and the N-terminal fragment polymorphism of muscle actin obtained after protease digestion. The entire mt-DNA genomic size from the small yellow croaker at Mokpo area was estimated to be about $16\pm0.2$ Kb. Furthermore, fourteen restriction endonucleases revealed a total of 37 restriction sites to the mt-DNA molecule, however, eight of the fourteen enzymes showed a significant restriction site variation. Six of the enzymes examined produced a single restriction profile for all individuals surveyed, indicating that they don't react on the same mt-DNA obtained from small yellow croaker. The Staphylococcus aureus $V_8$ protease is able to cleave the muscle actin of small yellow croaker and to yield a N-terminal peptide of 26 and 16 KDa, respectively.

• BMB Reports
• /
• v.56 no.8
• /
• pp.463-468
• /
• 2023

Screening for genetic defects in the cells should be examined for clinical application. The Pearson syndrome (PS) patient harbored nuclear mutations in the POLG and SSBP1 genes, which could induce systemic large-scale mitochondrial genome (mtDNA) deletion. We investigated iPSCs with mtDNA deletions in PS patient and whether deletion levels could be maintained during differentiation. The iPSC clones derived from skin fibroblasts (9% deletion) and blood mononuclear cells (24% deletion) were measured for mtDNA deletion levels. Of the 13 skin-derived iPSC clones, only 3 were found to be free of mtDNA deletions, whereas all blood-derived iPSC clones were found to be free of deletions. The iPSC clones with (27%) and without mtDNA deletion (0%) were selected and performed in vitro and in vivo differentiation, such as embryonic body (EB) and teratoma formation. After differentiation, the level of deletion was retained or increased in EBs (24%) or teratoma (45%) from deletion iPSC clone, while, the absence of deletions showed in all EBs and teratomas from deletion-free iPSC clones. These results demonstrated that non-deletion in iPSCs was maintained during in vitro and in vivo differentiation, even in the presence of nuclear mutations, suggesting that deletion-free iPSC clones could be candidates for autologous cell therapy in patients.

• Korean Journal of Veterinary Research
• /
• v.33 no.1
• /
• pp.43-51
• /
• 1993

Mitochondrial DNA(mt DNA) of Mammalian is the circular one which the 16.5K base pairs and show the maternal inheritance. Evolutional speed of nucleotide sequence is very fast. So that polymorphic analysis of mt DNA provide the useful informations to investigate the genetic relations of interspecies. Authors trials were focussed to compare with the polymorphic differences of mitochondrial DNA between Jindo and Japanese mongrel dogs. DNA was extracted from bloods of 21 head of Jindo dogs and 20 head of Japanese dogs and isolated using 10 kinds of restriction endonucleases(Apa I, BamH I, Bgl II, EcoR I, EcoR V, Hinc II. Hind III, Pst I, Sty I, Xba I) and then separated by the agarose gel electrophoresis. After sourthern blotting hybridization was completed using the mtDNA of Japanese mongrel dogs as a probe. Autoradiography was used to compare the polymorphism of mtDNA both dogs. The results obtained were as follows; 1. mt DNA of Jindo dog showed polymorphism resulting cleavage with four kinds of restriction endonuclease, Apa I, EcoR V, Hinc II, Sty I. While in the Japanese mongrel dogs observed the polymorphism in the five kinds of restriction endonuclease supplemented with EcoR I. 2. Compared with both dogs the frequency differences of DNA polymorphism were recognized in the specific restriction endonuclease Apa I. Consequently in the restriction endonuclease Apa I both dogs classified with three types as A, B, C however in the Jindo dogs frequency of C type was 71.5 percent but in Japanese mongrel dogs observed 45 percent in the A type. 3. DNA polymorphism obtained from the use of five kinds of restriction endonuclease were classified with seven types. In Jindo dogs frequency was highest in the type 6 as 71.4 percent but in the Japanese mongrel dogs showed 35 percent in the type 5. 4. Genetic distances calculated by NEI method showed 0.0089 in Jindo dogs and was 0.0094 in the Japanese mongrel dogs.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.22 no.1
• /
• pp.28-36
• /
• 2022

Purpose: Detection of abnormal metabolites in plasma amino acid (PAA) and urine organic acid (UOA) analyses has been used to diagnose clinical mitochondrial diseases, such as Leigh syndrome. In this study, the diagnostic values and effectiveness of PAA and UOA analyses were reviewed. Methods: This was a retrospective study of patients with Leigh syndrome who were diagnosed between 2003 and 2018 in a single tertiary care center. Through a whole mitochondrial sequencing and nuclear DNA associated mitochondrial gene panel analysis, 19 patients were found to be positive for mitochondrial DNA (mtDNA) mutation-associated Leigh syndrome, and 57 patients were negative. Their PAA and UOA analyses results were then compared. Results: In the comparison of the PAA and UOA analyses results between the two groups, no abnormal metabolites showed obvious differences between the mtDNA mutation-positive Leigh syndrome and mtDNA mutation-negative Leigh syndrome groups. Conclusion: PAA and UOA analyses are inappropriate test methods for diagnosing Leigh syndrome or screening of mtDNA mutation-associated Leigh syndrome. However, UOA analysis might still be a suitable screening test for Leigh syndrome.

• The Korean Journal of Zoology
• /
• v.37 no.3
• /
• pp.439-451
• /
• 1994

미꾸리속 어류 2종의 유전적 차이를 알아보기 위하여 염색체 분석과 미토콘드리아 DNA(mtDNA) 분석을 실시하였다. 일반염색에 의한 핵형 분석 결과 미꾸리(2N=50)와 미꾸라지(2N=48)는 염색체수에 차이가 있었으며. N-banding 분석 결과 두 종간에는 인형성 부위의 위치와 크기에 차이가 있었다. C-handing 겪과 미꾸라지는 1번 염색체쌍 동원 체부위에 넓게 C-band플 갖고 있었다. 미꾸리속 어류 2종의 mtONA를 7개의 6-base cutting 제한효소로 처리하여 절편 양상을 비교. 분석한 결과 2종 공히 mtDNA의 genome 크기는 약 16.OKb였으며 fragment homology(F)에서 미꾸리의 종내 집단간의 F값은 0.674. 미꾸라지는 0.862로 유사하게 나타났으나, 종간 F값은 0.207(0.074-0.417)로 낮았다 염기치환율은 미꾸리가 p=0.021, 미꾸라지는 p=0.002로 미꾸라지가 미꾸리에 비해 매우 낮은 염기치환율을 보였고. 종간 평균 염기치환율은 p=0.104로 차이 를 나타냈다. MtDNA 분석과 핵형 분석 결과 미꾸라지는 Robertsonlan translocation의 결과 미꾸리로 부터 분화된 것으로 추정 되었다.