• Animal cells and systems
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• 제6권2호
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• pp.167-170
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• 2002

The long terminal repeats (LTRs) of human endogenous retrovirus (HERV) have been found to be coexpressed with sequences of closely located genes. It has been suggested that the LTR elements have contributed to the structural change or genetic variation of human genome connected to various diseases and evolution. We examined the HERV-W LTR elements in various cancer cells (2F7, A43l , A549, HepG2, MIA-PaCa-2, PC-3, RT4, SiHa, U-937, and UO-31). Using genomic DNA from the cancer cells, we performed PCR amplification and identified twelve new HERV-W LTR elements. Those LTR elements showed a high degree of sequence similarity (88-99％) with HERV-W LTR (AF072500). A phylogenetic tree obtained by the neighbor-joining method revealed that HERV-W LTR elements could be mainly divided into two groups through evolutionary divergence. Three HERV-W LTR elements (RT4-2, A43l-1, and UO3l-2) belonged to Group 1, whereas nine LTR elements (2F7-2, A549-1, A549-3, HepG2-3, MP2-2, PC3-1, SiHa-8, SiHa-10, and U937-1) belonged to Group 11. Taken together, our new sequence data of the HERV-W LTR elements may contribute to an understanding of tissue-specific cancer by genomic instability of LTR integration.

• Journal of Korean Neurosurgical Society
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• 제50권6호
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• pp.486-491
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• 2011

Objective : Structural genetic variation, including copy-number variation (CNV), constitutes a substantial fraction of total genetic variability, and the importance of structural variants in modulating susceptibility is increasingly being recognized. CNV can change biological function and contribute to pathophysiological conditions of human disease. Its relationship with common, complex human disease in particular is not fully understood. Here, we searched the human genome to identify copy number variants that predispose to moya-moya type cerebrovascular disease. Methods : We retrospectively analyzed patients who had unilateral or bilateral steno-occlusive lesions at the cerebral artery from March, 2007, to September, 2009. For the 20 subjects, including patients with moyamoya type pathologies and three normal healthy controls, we divided the subjects into 4 groups : typical moyamoya (n=6), unilateral moyamoya (n=9), progression unilateral to typical moyamoya (n=2) and non-moyamoya (n=3). Fragmented DNA was hybridized on Human610Quad v1.0 DNA analysis BeadChips (Illumina). Data analysis was performed with GenomeStudio v2009.1, Genotyping 1.1.9, cnvPartition_v2.3.4 software. Overall call rates were more than 99.8%. Results : In total, 1258 CNVs were identified across the whole genome. The average number of CNV was 45.55 per subject (CNV region was 45.4). The gain/loss of CNV was 52/249, having 4.7 fold higher frequencies in loss calls. The total CNV size was 904,657,868, and average size was 993,038. The largest portion of CNVs (613 calls) were 1M-10M in length. Interestingly, significant association between unilateral moyamoya disease (MMD) and progression of unilateral to typical moyamoya was observed. Conclusion : Significant association between unilateral MMD and progression of unilateral to typical moyamoya was observed. The finding was confirmed again with clustering analysis. These data demonstrate that certain CNV associate with moyamoya-type cerebrovascular disease.

• 헤리티지:역사와 과학
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• 제55권1호
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• pp.223-242
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• 2022

본 연구는 세종대에 삼물회를 조선왕릉에 도입하게 되는 과정을 살펴보고, 1446년(세종 28년) 영릉의 구조적 변화가 갖는 의미를 살펴보는 데 중점을 두었다. 조선초 왕릉은 고려의 석실릉을 답습하여 조성하였다. 조선왕릉으로 처음 지어진 신덕왕후의 정릉은 고려의 공민왕과 노국공주의 정릉·현릉을 건립한 경험을 갖고 있는 김사행이 주도적으로 건립하였다. 이후 박자청이 이어받아 조선 초 석실릉을 건립하였으므로, 고려의 석실구조를 기반으로 조선왕릉이 조성되었다고 보는 것이 적절할 것이다. 그러나 성종대의 『국조오례의』에 기록된 석실의 구조를 살펴보면 고려의 것과는 매우 다르다. 뿐만 아니라 『세종실록』에 기록된 태종과 원경왕후의 석실제도와도 다르다. 가장 큰 차이는 석실에 삼물회를 도입하여 구조적인 보강을 시도하였다는 점이다. 이러한 변화는 1446년(세종 28년) 소헌왕후의 국상으로 영릉(英陵)을 건립할 때, 석실 내에 물이 스며들거나 고이지 않는 밀실한 구조를 만들고자 했던 세종의 의지를 반영한 것이다. 1446년 세종과 소헌왕후의 합장릉으로 조성된 영릉(英陵)과 1452년에 조성된 문종의 현릉(顯陵)은 석실구조 바깥에 삼물회격을 추가로 시공한 석실과 회격의 복합구조체이다. 이것은 1468년(예종 즉위년) 세조의 유교에 따라 석실을 폐지하고 회격만으로 현궁을 만드는데 구조적 기반이 되었다. 즉, 영릉과 현릉의 구조에서 내부의 석실구조를 제거하고, 바깥의 회격만을 시공함으로써 회격 현궁이 조성된 것이다. 이로써 조선왕릉은 『국조오례의』에 기록된 석실과 회격의 복합 구조체인 회격석실릉에서, 석실을 제거하고 회격만을 조성하는 회격릉으로 정착하게 된다. 이러한 전개과정을 살펴볼 때, 1446년(세종 28)에 삼물회로 만든 회격구조를 석실에 결합한 회격석실릉은 조선만의 특별한 석실구조이며, 조선왕릉의 지하구조가 회격릉으로 변천하게 되는 기반이 되었음을 논증한다.

• 한국미생물학회:학술대회논문집
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• 한국미생물학회 2000년도 International Meeting 2000
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• pp.23-36
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• 2000

Japanese encephalitis virus (JEV) is the causative agent of a mosquito-borne encephalitis and is transmitted to human via persistently infected mosquito vectors. Although the virus is known to cause only acute infection, there were reports that showed neurological sequelae, latent infection in peripheral mononuclear cells, and recurrence of the disease after acute encephalitis. Innate resistance of certain cell lines, abnormal SN1 expression of the virus, and anti-apoptotic effect of cullular bcl-2 have been suggested as probable causes of JEV persistence even in the absence of defective interfering (DI) particles. Although possible involvement of DI particles in JEV persistence was suggested, neither has a direct evidence for DI presence nor its molecular characterization been made. Two questions asked in this study are whether the DI virus plays any role in JEV persistent infection if it is associated with and what type of change(s) can be made in persistently infected cells to avoid apoptosis even with the continuous virus replication, DI-free standard stock of JEV was infected in BHK-21, Vero, and SW13 cells and serial high multiplicity passages were performed in order to generate DI particles. There different-sized DI RNA species which were defective in both structural and nonstructural protein coding genes. Rescued ORFs of the DI genome maintained in-frame and the presence of replicative intermediate or replicative form RNA of the DI particles confirmed their replication competence. On the other hand, several clones with JEV persistent infection were established from the cells survived acute infections during the passages. Timing of the DI virus generation during the passages seemed coincide to the appearance of persistently infected cells. The DI RNAs were identified in most of persistently infected cells and were observed throughout the cell maintenance. One of the cloned cell line maintained the viral persistence without DI RNA coreplication. The cells with viral persistence released the reduced but continuous infectious JEV particle for up to 9 months and were refractory to homologous virus superinfection but not to heterologous challenges. Unlike the cells with acute infection these cells were devoid of characteristic DNA fragmentation and JEV-induced apoptosis with or without homologous superinfection. Therefore, the DI RNA generated during JEV undiluted serial passage on mammalian cells was shown to be biologically active and it seemed to be responsible, at least in part, for the establishment and maintenance of the JEV persistence in mammalian cells. Viral persistence without DI RNA coreplication, as in one of the cell clones, supports that JEV persistent infection could be maintained with or without the presence of DI particles. In addition, the fact that the cells with JEV persistence were resistant against homologous virus superinfection, but not against heterologous one, suggests that different viruses have their own and independent pathway for cytopathogenesis even if viral cytopathic effect could be converged to an apoptosis after all.