• 대한의생명과학회지
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• 제12권4호
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• pp.413-418
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• 2006

Charcot-Marie-Tooth disease (CMT) is blown as one of the inherited disorder of peripheral nervous system. Recently, it was found that point mutations in the neurofilament light subunit (NF-L) gene cause CMT. Neurofilaments (NFs) are heteropolymers consist of NF-L, NF-M and NF-H. To assess the relationship between CMT and NF-L mutation in cellular level, we performed phenotypic analysis of the mutant NF-L (E397K) using cultured cell lines. Vimentin-deficient human adrenal carcinoma SW13 (Vim-) cells have a potential to form the intermediate filaments when the cells are expressing both NF-L and NF-M. Our results show that co-expression of wild type NF-L with NF-M showed intermediate filament formation in SW13 (Vim-) cells, while E397K with NF-M did not. This result means that E397K mutant lost its ability to form the intermediate filament in vivo, and further suggests that the E397K mutation is closely related to CMT.

• Asian Pacific Journal of Cancer Prevention
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• 제14권11호
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• pp.6653-6656
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• 2013

Background: The single most common proto-oncogene change in human neoplasms is a point mutation in RAS genes. A wide range of variation in frequency of KRAS mutations has been seen in hematologic malignancies. Despite this, RAS roles in leukemogenesis remain unclear. The frequency of KRAS mutations in CML has been reported to be between zero an 10%. Many attempts have been done to develop an anti-RAS drug as a therapeutic target. Materials and Methods: This cross sectional study was performed in Mashhad University of Medical Sciences, Mashhad, Iran from 2010-2012. In 78 CML patients (diagnosed according to WHO 2008 criteria) in chronic or accelerated phases, KRAS mutations in codons 12 and 13 were analyzed using a modified PCR-restriction fragment length polymorphism (RFLP) method. Results: We did not detect any KRAS mutations in this study. Conclusions: KRAS mutations are overall rare in early phase CML and might be secondary events happening late in leukemogenesis cooperating with initial genetic lesions.

• 한국지능시스템학회논문지
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• 제8권3호
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• pp.1-8
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• 1998

본 논문에서는 유전자 프로그래밍의 성능을 향상시키기 위하여 강화학습법에 기반한 강화 유전자 프로그래밍을 제안한다. 트리구조와 프로그램을 염색체로 가지는 유전자 프로그래밍(GP)은 다른 진화 알고리즘에 비해 염색체의 크기에 제한이 없기 때문에 표현력에 융통성이 많다는 장점이 있다. 그러나 이러한 특징은 반대고 교차 및 돌연변이 연산에 있어서 수렴성을 떨어뜨리는 단점을 나타낸다. 따라서 유전자 프로그래밍은 다른 진화알고리즘에 비해 개체군의 크기 및 진화 세대수를 크게 잡는 것이 일반적이다. 본 논문에서는 유전자 프로그래밍의 이러한 성질을 개선하기 위해서 프로그램에 강화신호를 주어 이것의 보답/벌칙의 정도에 기반한 교차 및 돌연번이 연산을 실행하는 방법을 제안한다. 제안된 방법은 인공개미(Artificial Ant)문제에 적용하여 그 유효성을 입증한다.

• Journal of Plant Biology
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• 제5권1호
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• pp.1-6
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• 1962

1) Germination rate was rather irregular than decreasing as increasing dose of radiation and there were no differences between Kyong-Sam and Chuong-Bang of Chinese cabbage. 2) In R1 generation, abnormal leaves from seedling of irradiated seeds were observed. These were more apparent in X-ray irradiation than in thermal neutron. 3) Seedling height was inhibited with increasing dose of X-ray and thermal neutrons. Growth inhibition was more remarkable in X-ray than in thermal neutron. Kyong-Sam demonstrated more sensitivity than Chyong-Bang in both X-ray and thermal neutron. 4) Seedling height produced from seeds subjected to thermal neutrons showed small variation around its mean value, while in X-irradiation there was a greater deviaton from the mean value. 5) Fertility was decreased as increasing with dose, while the frequency of abortive pollen was increased. There were variability of the fertility and frequency of abortive pollen among plants or branches of a plant. 6) The mutants were obtained more in thermal neutron irradiation than in X-ray. The types of mutations obtained in Chinese radish of R2 generation were abnormal leaf, densely glowing leaf, degeneration in growing point and dwarf. The maximum frequency of phenotypic mutations was abnormal leaf mutation.

• Journal of Microbiology and Biotechnology
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• 제17권2호
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• pp.244-252
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• 2007

Escherichia coli has a PhoR-PhoB two-component regulatory system to detect and respond to the changes of environmental phosphate concentration. For the E. coli W3110 strain growing under phosphate-limiting condition, the changes of global gene expression levels were investigated by using DNA microarray analysis. The expression levels of some genes that are involved in phosphate metabolism were increased as phosphate became limited, whereas those of the genes involved in ribosomal protein or amino acid metabolism were decreased, owing to the stationary phase response. The upregulated genes could be divided into temporarily and permanently inducible genes by phosphate starvation. At the peak point showing the highest expression levels of the phoB and phoR genes under phosphate-limiting condition, the phoB- and/or phoR-dependent regulatory mechanisms were investigated in detail by comparing the gene expression levels among the wild-type and phoB and/or phoR mutant strains. Overall, the phoB mutation was epistatic over the phoR mutation. It was found that PhoBR and PhoB were responsible for the upregulation of the phosphonate or glycerol phosphate metabolism and high-affinity phosphate transport system, respectively. These results show the complex regulation by the PhoR-PhoB two-component regulatory system in E. coli.

• 한국생물공학회:학술대회논문집
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• 한국생물공학회 2000년도 추계학술발표대회 및 bio-venture fair
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• pp.680-683
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• 2000

고온성 박테리아인 Hydrogenobacter thermophilus가 생산하는 cytochrome c-552 유전자에 대한 primer를 제작하여 PCR을 통해 증폭한 후 E. coli에 cloning하였다. 또한 point mutagenesis를 통해 fusion protein을 만들기 위한 기초자료를 마련하였다. 앞으로 cytochrome c-552가 E. coli에서 mutant type으로 발현되기 위한 발현벡터의 개발과 이를 정제하는 기술을 개발하는 것이 필요할 것이다.

• 한국응용약물학회:학술대회논문집
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• 한국응용약물학회 1993년도 제2회 신약개발 연구발표회 초록집
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• pp.92-92
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• 1993

Point mutations in a highly conserved central region of the HIV-1 integrase protein were analyzed for their effects on viral replication and virion morphogenesis. Conservative amino acid replacements of two amino acid residues invariant un retroviral integrases, D116 and E152 of HIV-1, as well as the highly conserved amino acid S147, completely blocked viral replication in two CD4$\^$＋/ human T cell lines. Mutation of four other highly conserved amino acids in the region had no detectable effect on viral replication, while Mutations at two positions, N117 and Y143, resulted in viruses with a delayed replication phenotype. Characteristic and reproducible defects id virion core structure were observed by electron microscopic analysis of sore of the replication defective integrase point mutants, indicating that mutant integrase proteins can interfere with the process of virion core maturation.

• Tuberculosis and Respiratory Diseases
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• 제63권2호
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• pp.128-138
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• 2007

연구배경: INH 내성은 katG 와 inhA(ORF와 promoter)의 변이에 의한 것으로 알려져 있다. 유전자 변이는 지역적으로 종류와 빈도가 다르게 나타날 수 있는데 기존 국내의 연구보고들은 흔하다고 알려진 katG의 463 코돈만을 추적한 것들이었다. 따라서 본 연구는 국내에서 분리된 INH 내성균들의 두 유전자에서 나타날 수 있는 변이의 종류와 빈도를 확인하고자 하였다. 연구방법: 대한결핵협회 결핵연구원에서 MDR-TB로 판명된 INH 내성 결핵균 29주로부터 bead beater-phenol법으로 DNA를 추출하여 katG(2,223 bp), inhA ORF(-77~897, 975 bp) 및 inhA promoter(-168~80, 248 bp) 염기서열 결정 및 분석은 ABI PRISM 3730 XL Analyzer 및 MegAlign package를 사용하였다. 결과: 모든 균주들은 분석 표적으로 사용한 세 유전자 부위 중에서 적어도 한 개 이상의 유전자 부위에 변이가 있었다. INH 내성균은 거의 대부분(>93%) katG의 변이를 갖고 inhA 유전자 변이만 있는 경우는 드물어 INH 내성을 결정하는 중요한 요인은 katG의 변이 인 것을 확인할 수 있었다. katG 부위에서 Arg463Leu 변이와 Ser315Thr 변이가 높은 빈도(62.1% 및 55.2%)로 발견되었고, katG 완전결실과 inhA promoter-15($C{\rightarrow}T$) 변이도 일정한 빈도로 나타남을 볼 수 있었다. 그 외 inhA ORF 변이도 1주에서 1종류의 변이가 발견되었다. 결론: 기존 연구결과에서는 보고되지 않고 본 연구에서 처음으로 확인된 변이들도 14 종류나 있어서, INH 내성은 주로 katG 혹은 일부 inhA 특정 부위의 변이가 주도하지만 이들 외에도 다양한 변이가 존재한다는 것을 알 수 있었다. 이들 새로이 확인된 변이들은 염기서열 분석에 의한 INH 내성 여부 판단 시, 기존 알려진 변이 외에 보조 자료로 사용할 수 있을 것으로 생각한다.

• Molecules and Cells
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• 제43권10호
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• pp.889-897
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• 2020

K-RAS is frequently mutated in human lung adenocarcinomas (ADCs), and the p53 pathway plays a central role in cellular defense against oncogenic K-RAS mutation. However, in mouse lung cancer models, oncogenic K-Ras mutation alone can induce ADCs without p53 mutation, and loss of p53 does not have a significant impact on early K-Ras-induced lung tumorigenesis. These results raise the question of how K-Ras-activated cells evade oncogene surveillance mechanisms and develop into lung ADCs. RUNX3 plays a key role at the restriction (R)-point, which governs multiple tumor suppressor pathways including the p14^ARF-p53 pathway. In this study, we found that K-Ras activation in a very limited number of cells, alone or in combination with p53 inactivation, failed to induce any pathologic lesions for up to 1 year. By contrast, when Runx3 was inactivated and K-Ras was activated by the same targeting method, lung ADCs and other tumors were rapidly induced. In a urethane-induced mouse lung tumor model that recapitulates the features of K-RAS-driven human lung tumors, Runx3 was inactivated in both adenomas (ADs) and ADCs, whereas K-Ras was activated only in ADCs. Together, these results demonstrate that the R-point-associated oncogene surveillance mechanism is abrogated by Runx3 inactivation in AD cells and these cells cannot defend against K-Ras activation, resulting in the transition from AD to ADC. Therefore, K-Ras-activated lung epithelial cells do not evade oncogene surveillance mechanisms; instead, they are selected if they occur in AD cells in which Runx3 has been inactivated.

• 한국자동차공학회논문집
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• 제6권4호
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• pp.76-85
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• 1998

Recently, Genetic Algorithm(GA) is widely adopted into a search procedure for structural optimization, which is a stochastic direct search strategy that mimics the process of genetic evolution. This methods consist of three genetics operations maned selection, crossover and mutation. Contrast to traditional optimal design techniques which use design sensitivity analysis results, GA, being zero-order method, is very simple. So, they can be easily applicable to wide area of design optimization problems. Also, owing to multi-point search procedure, they have higher probability of converge to global optimum compared to traditional techniques which take one-point search method. In this study, a method of finding the optimum values of suspension parameters is proposed by using the GA. And vehicle is modelled as planar vehicle having 5 degree-of-freedom. The generalized coordinates are vertical motion of passenger seat, sprung mass and front and rear unsprung mass and rotate(pitch) motion of sprung mass. For rapid converge and precluding local optimum, share function which distribute chromosomes over design bound is introduced. Elitist survival model, remainder stochastic sampling without replacement method, multi-point crossover method are adopted. In the sight of the improvement of ride comfort, good result can be obtained in 5-D.O.F. vehicle model by using GA.