• 제목/요약/키워드: genomic

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Structural Variation of Alu Element and Human Disease

  • Kim, Songmi;Cho, Chun-Sung;Han, Kyudong;Lee, Jungnam
    • Genomics & Informatics
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    • 제14권3호
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    • pp.70-77
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    • 2016
  • Transposable elements are one of major sources to cause genomic instability through various mechanisms including de novo insertion, insertion-mediated genomic deletion, and recombination-associated genomic deletion. Among them is Alu element which is the most abundant element, composing ~10% of the human genome. The element emerged in the primate genome 65 million years ago and has since propagated successfully in the human and non-human primate genomes. Alu element is a non-autonomous retrotransposon and therefore retrotransposed using L1-enzyme machinery. The 'master gene' model has been generally accepted to explain Alu element amplification in primate genomes. According to the model, different subfamilies of Alu elements are created by mutations on the master gene and most Alu elements are amplified from the hyperactive master genes. Alu element is frequently involved in genomic rearrangements in the human genome due to its abundance and sequence identity between them. The genomic rearrangements caused by Alu elements could lead to genetic disorders such as hereditary disease, blood disorder, and neurological disorder. In fact, Alu elements are associated with approximately 0.1% of human genetic disorders. The first part of this review discusses mechanisms of Alu amplification and diversity among different Alu subfamilies. The second part discusses the particular role of Alu elements in generating genomic rearrangements as well as human genetic disorders.

Effects of Taurine on Sperm Characteristics during In vitro Storage of Boar Semen

  • Jang, H.Y.;Kong, H.S.;Park, C.K.;Oh, J.D.;Lee, S.G.;Cheong, H.T.;Kim, J.T.;Lee, S.J.;Yang, B.K.;Lee, H.K.
    • Asian-Australasian Journal of Animal Sciences
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    • 제19권11호
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    • pp.1561-1565
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    • 2006
  • The objective of this study was to investigate the anti-oxidative effects of taurine on sperm characteristics for in vitro storage of boar semen. Semen was randomly divided into 10 groups in conical tubes and treated with different concentrations of taurine (25-100 mM) with or without $250{\mu}M$ $H_2O_2$. The percentage of motile spermatozoa in taurine groups after 6 and 9 h were significantly higher at >94% and 87%, respectively, compared to the control group ($85.1{\pm}0.5$ and $72.4{\pm}0.3$, p<0.05). The sperm motility in taurine with $H_2O_2$ after 6 h incubation was slightly decreased compared to the taurine alone treatment, but after 9 and 12 h incubation % sperm motility dropped sharply in taurine with $H_2O_2$ ($75.3{\pm}0.3$ and $69.6{\pm}2.9$, p<0.05). For 3, 9 and 12 h incubation, sperm viability in the control was lower than in taurine groups, irrespective of taurine concentration. In eosin Y and nigrosin staining (ENS), the sperm survival rates (%) for 6 h incubation were significantly higher in 25 mM ($76.0{\pm}0.6$) and 50 mM taurine groups ($78.0{\pm}0.7$), respectively. Sperm survival rates for 9 and 12 h incubation were higher in taurine groups (${\geq}48%$ in 9 h and ${\geq}42%$ in 12 h) compared to controls ($43.0{\pm}2.1$ and $31.0{\pm}0.6$, respectively). In the hyoosmotic swelling test (HOST), sperm membrane integrity was similar to the results of sperm survival. These experiments indicate that supplementation of taurine to the semen extender can increase the sperm characteristics(motility, viability, survival and membrane integrity).

한우의 유전체 표지인자 활용 개체 혈연관계 추정 (Prediction of Genomic Relationship Matrices using Single Nucleotide Polymorphisms in Hanwoo)

  • 이득환;조충일;김내수
    • Journal of Animal Science and Technology
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    • 제52권5호
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    • pp.357-366
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    • 2010
  • 한우의 유전체 전장의 정보를 Illumina BeadArray$^{TM}$ Bovine SNP50 assay를 이용하여 단일염기다형 현상을 조사한 결과, 유전적 다양성을 보이는 좌위가 약 32,567 좌위 이상에서 다양성을 보이고 있었으며 약 5,554 좌위에서 다양성이 조사되지 않았다. 이는 조사된 자료의 가계집단의 수가 크게 제한되었기 때문에 기인될 수 있으며 또 다른 원인으로는 한우 종축집단의 크기가 작을 수 있다는 현상을 반증한다고 사료된다. 유전분석의 기초가 되는 혈통기록에 의한 개체간 혈연관계를 유전체 정보에 의한 혈연관계와 비교하여 본 결과, 유전체 정보에 의한 혈연관계의 크기가 혈통기록에 의한 혈연관계보다 좀 더 정확하게 추정될 수 있다는 장점이 있으며 혈통기록상의 오류로 그릇된 혈연관계의 크기를 유전체 정보를 통하여 보완할 수 있다는 장점이 있다. 이러한 장점을 활용하면 유전체정보를 이용한 유전능력 평가의 정확성을 크게 향상시킬 수 있을 것으로 사료되었다.

Optimization of Swine Breeding Programs Using Genomic Selection with ZPLAN+

  • Lopez, B.M.;Kang, H.S.;Kim, T.H.;Viterbo, V.S.;Kim, H.S.;Na, C.S.;Seo, K.S.
    • Asian-Australasian Journal of Animal Sciences
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    • 제29권5호
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    • pp.640-645
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    • 2016
  • The objective of this study was to evaluate the present conventional selection program of a swine nucleus farm and compare it with a new selection strategy employing genomic enhanced breeding value (GEBV) as the selection criteria. The ZPLAN+ software was employed to calculate and compare the genetic gain, total cost, return and profit of each selection strategy. The first strategy reflected the current conventional breeding program, which was a progeny test system (CS). The second strategy was a selection scheme based strictly on genomic information (GS1). The third scenario was the same as GS1, but the selection by GEBV was further supplemented by the performance test (GS2). The last scenario was a mixture of genomic information and progeny tests (GS3). The results showed that the accuracy of the selection index of young boars of GS1 was 26% higher than that of CS. On the other hand, both GS2 and GS3 gave 31% higher accuracy than CS for young boars. The annual monetary genetic gain of GS1, GS2 and GS3 was 10%, 12%, and 11% higher, respectively, than that of CS. As expected, the discounted costs of genomic selection strategies were higher than those of CS. The costs of GS1, GS2 and GS3 were 35%, 73%, and 89% higher than those of CS, respectively, assuming a genotyping cost of $120. As a result, the discounted profit per animal of GS1 and GS2 was 8% and 2% higher, respectively, than that of CS while GS3 was 6% lower. Comparison among genomic breeding scenarios revealed that GS1 was more profitable than GS2 and GS3. The genomic selection schemes, especially GS1 and GS2, were clearly superior to the conventional scheme in terms of monetary genetic gain and profit.

Maintenance of Sperm Characteristics and In vitro Developmental Rate of Embryos against Oxidative Stress through Antioxidants in Pig

  • Jang, H.Y.;Kong, H.S.;Oh, J.D.;Park, B.K.;Yang, B.K.;Jeon, G.J.;Lee, H.K.
    • Asian-Australasian Journal of Animal Sciences
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    • 제21권3호
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    • pp.340-345
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    • 2008
  • Oxidative stress is one of the major causes of failure of in vitro storage of boar semen. Reactive oxygen species (ROS) are one of the important mediators of oxidative stress during in vitro storage of boar semen. Our study examined the effects of taurine on sperm characteristic and on in vitro developmental embryos during in vitro storage of boar semen for 7 days. Semen was randomly aliquoted into 3 centrifuge tubes and treated with different concentrations of taurine (25-100 mM). The characteristics of boar sperm were analyzed for motility by light microscopy, viability by using a Makler counting chamber and membrane integrity by a hypoosmotic swelling test (HOST). The percentages of motile spermatozoa in taurine groups after 5 days were significantly higher compared to the control. Sperm viability in the control was lower than in taurine groups after 7 days irrespective of different taurine concentration. In the hyoosmotic swelling test (HOST), significantly higher results were obtained in taurine groups after 3 days. Also, the developmental rates of IVM/IVF porcine embryos from semen treated with pyruvate and taurine were significantly increased when compared with the control (p<0.05). These results indicate that supplementation of taurine as an antioxidant in boar semen extender can improve the semen quality.

A double-labeling marker-based method for estimating inbreeding and parental genomic components in a population under conservation

  • Li, Wenting;Zhang, Mengmeng;Wang, Kejun;Lu, Yunfeng;Tang, Hui;Wu, Keliang
    • Asian-Australasian Journal of Animal Sciences
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    • 제33권1호
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    • pp.12-23
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    • 2020
  • Objective: The objective of a conservation program is to maintain maximum genetic diversity and preserve the viability of a breed. However, the efficiency of a program is influenced by the ability to accurately measure and predict genetic diversity. Methods: To examine this question, we conducted a simulation in which common measures (i.e. heterozygosity) and novel measures (identity-by-descent probabilities and parental genomic components) were used to estimate genetic diversity within a conserved population using double-labeled single nucleotide polymorphism markers. Results: The results showed that the accuracy and sensitivity of identity-by-state probabilities and heterozygosity were close to identity by descent (IBD) probabilities, which reflect the true genetic diversity. Expected heterozygosity most closely aligned with IBD. All common measures suggested that practices used in the current Chinese pig conservation program result in a ~5% loss in genetic diversity every 10 generations. Parental genomic components were also analyzed to monitor real-time changes in genomic components for each male and female ancestor. The analysis showed that ~7.5% of male families and ~30% of female families were lost every 5 generations. After 50 generations of simulated conservation, 4 male families lost ~50% of their initial genomic components, and the genomic components for 24.8% of the female families were lost entirely. Conclusion: In summary, compared with the true genetic diversity value obtained using double-labeled markers, expected heterozygosity appears to be the optimal indicator. Parental genomic components analysis provides a more detailed picture of genetic diversity and can be used to guide conservation management practices.

Identification of Genomic Aberrations by Array Comparative Genomic Hybridization in Patients with Aortic Dissections

  • Suh, Jong-Hui;Yoon, Jeong-Seob;Kwon, Jong-Bum;Kim, Hwan-Wook;Wang, Young-Pil
    • Journal of Chest Surgery
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    • 제44권2호
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    • pp.123-130
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    • 2011
  • Background: The aim of the present study was to identify chromosomal loci that contribute to the pathogenesis of aortic dissection (AD) in a Korean population using array comparative genomic hybridization (CGH) and to confirm the results using real-time polymerase chain reaction (PCR). Materials and Methods: Eighteen patients with ADs were enrolled in this study. Genomic DNA was extracted from individual blood samples, and array CGH analyses were performed. Four corresponding genes with obvious genomic changes were analyzed using real-time PCR in order to assess the level of genomic imbalance identified by array CGH. Results: Genomic gains were most frequently detected at 8q24.3 (56%), followed by regions 7q35, 11q12.2, and 15q25.2 (50%). Genomic losses were most frequently observed at 4q35.2 (56%). Real-time PCR confirmed the results of the array CGH studies of the COL6A2, DGCR14, PCSK6, and SDHA genes. Conclusion: This is the first study to identify candidate regions by array CGH in patients with ADs. The identification of genes that may predispose an individual to AD may lead to a better understanding of the mechanism of AD formation. Further multicenter studies comparing cohorts of patients of different ethnicities are warranted.

Accuracy of genomic breeding value prediction for intramuscular fat using different genomic relationship matrices in Hanwoo (Korean cattle)

  • Choi, Taejeong;Lim, Dajeong;Park, Byoungho;Sharma, Aditi;Kim, Jong-Joo;Kim, Sidong;Lee, Seung Hwan
    • Asian-Australasian Journal of Animal Sciences
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    • 제30권7호
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    • pp.907-911
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    • 2017
  • Objective: Intramuscular fat is one of the meat quality traits that is considered in the selection strategies for Hanwoo (Korean cattle). Different methods are used to estimate the breeding value of selection candidates. In the present work we focused on accuracy of different genotype relationship matrices as described by forni and pedigree based relationship matrix. Methods: The data set included a total of 778 animals that were genotyped for BovineSNP50 BeadChip. Among these 778 animals, 72 animals were sires for 706 reference animals and were used as a validation dataset. Single trait animal model (best linear unbiased prediction and genomic best linear unbiased prediction) was used to estimate the breeding values from genomic and pedigree information. Results: The diagonal elements for the pedigree based coefficients were slightly higher for the genomic relationship matrices (GRM) based coefficients while off diagonal elements were considerably low for GRM based coefficients. The accuracy of breeding value for the pedigree based relationship matrix (A) was 13% while for GRM (GOF, G05, and Yang) it was 0.37, 0.45, and 0.38, respectively. Conclusion: Accuracy of GRM was 1.5 times higher than A in this study. Therefore, genomic information will be more beneficial than pedigree information in the Hanwoo breeding program.

제한효소 처리된 Genomic DNA에 의한 Polymerase Chain Reaction 증폭 효율에 관한 연구 (Treatment of Genomic DNA with Restriction Enzyme(s) Improves Amplification Efficiency by Polymerase Chain Reaction)

  • 민해기;장영효
    • 미생물학회지
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    • 제40권3호
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    • pp.254-256
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    • 2004
  • Polymerase chain reaction (PCR) is a powerful tool for precisely amplifying selected DNA sequences that have had a broad impact on genomic studies. When examining human $\alpha$- and $\beta$- tryptase genes which have 95% DNA homology, inconsistent PCR amplification of genomic sequences hampered our progress. This study suggests that long PCR technique on the original DNA digested with restriction enzymes improves both efficiency and sensitivity of PCR. These improved results seem to derived from the effective denaturation of the original genomic DNA template or reduction of formation of secondary structures that block either primer annealing or extension in PCR. Elimination of homo- or hetero-duplex products derived from highly homologous genes provides an additional advantage in this study. This communication describes how the use of restriction enzymes improved these efficiencies, and also facilitated studies of highly homologous genes including tryptase genes.

Cloning of the 5'-end and Amplification of Full-Length cDNA of Genomic RNA of Lily symptomless virus

  • Park, Seon-Ah;Ryu, Ki-Hyun
    • The Plant Pathology Journal
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    • 제18권4호
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    • pp.187-191
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    • 2002
  • This paper describes the cloning and sequence analysis of the 5'-terminal region and full-length cDNA production of genomic RNA of Lily symptomless virus (LSV), a Species Of the genus Carlavirus. A sing1e DNA band about 600 bp harboring the 5'-end of genomic RNA of the virus was successfully amplified by reverse transcription-polymerase chain reaction (RT-PCR) and rapid amplification of cDNA ends (RACE), and was cloned for nucleotide sequence determination. Sequence analysis of selected RACE cDNA clones revealed that the LSV 5'non-translated region consists of 67 nucleotides long of AT rich stretch followed GC rich from the 5'-end. To produce full-length cDNA products for the viral genomic RNA, a set of LSV-specific primers could be designed based on the obtained sequence in this study and the known sequences of 3'-terminal region for the virus. Full-length cDNA copies of LSV, an 8.4 kb long, were directly amplified by the long-template RT-PCR technique from the purified viral genomic RNA samples. This full-length cDNA copies were analyzed by restriction mapping. The molecules produced in this study can be useful for the production of in vitro infectious cDNA clone, as well as, for the completion of genomic RNA sequence and genome structure for the virus.