• Nuclear Engineering and Technology
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• 제13권3호
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• pp.161-167
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• 1981

자주달개비(Tradescantia) BNL clone 4430을 본 연구소 감마농장(${\gamma}$-field)에 거리별로 배치하고 ${\gamma}$-선을 3.6mR/day~182R/day의 선량율로 완조사시켜, 이 식물의 수술털에 나타나는 분홍색 체세포돌연변이를 대상으로 돌연변이의 출현율을 조사하는 한편 화기에 미치는 형태변화를 조사하였다. 분홍색 체세포돌연변이율은 22.2R/day의 선량율에서 수술털 1,000개당 85.81$\pm$6.45개로 가장 높았고, 이보다 높은 선량율에서는 오히려 변이율이 감소하여 포화선량효과를 초래하였다. 또한 3.6mR/day의 낮은 선량율체서도 이 체세포돌연변이율이 자연돌연변이율보다 증가하였음을 볼 수 있었으며 비교적 낮은 선량율 조사에서는 꽃, 수술, 수술털등의 형태적 변화가 없이 돌연 변이율만의 증가를 볼수가 있어 감마농장내에서 과수나 화목등 영년식물에 저선량의 완조사를 통해 체세포돌연변이의 유기가 가능할것으로 보이며, 한편 이 식물의 특성을 이용하여 저위 방사선에 의한 유전적변화를 탐지하는데에도 적절한 수단이 될 것 같다.

• 한국약용작물학회지
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• 제3권1호
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• pp.50-55
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• 1995

체세포배의 생산, 보호 및 저장조건의 구명과 체세포배의 기내분화 및 체세포배 배양식물의 유전변이 여부를 탐색하기 위한 연구를 수행한 결과 MS기본배지 보다 1/2MS배지가 체세포배형성에 가장 효과적이었으며 BA, kinetin처리 모두 $0.1{\sim}1mg/L$에서 체세포배가 발이하여 식물체 형성이 양호하였고 농도가 높을수록 억제되는 경향을 보였으며 shoot의 발근과 신장을 위해서는 IAA처리가 효과적이었다. 1/2MS기본배지에 2.0%의 알진산 용액으로 알진산캡슐을 씌운 체세포배의 기내에서의 식물체형성(전환율)은 $AgNO_3$5mg/l처리가 86%로 가장 앙호하였다 . $5^{\circ}C$에서 3개월 동안 체세포배를 저온저장하여 65%의 발아가 이루어졌으며 저장기간이 길어질수록 발아율이 저하되었다. 체세포배 배앙식물은 RAPD(Randomly Amplified Polymorphic DNA)분석을 통하여 여러 major band 수준에서 DNA polymorphism이 관찰되었다.

• Genomics & Informatics
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• 제16권2호
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• pp.30-35
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• 2018

Patient-derived xenograft (PDX) models are useful tools for tumor biology research and testing the efficacy of candidate anticancer drugs targeting the druggable mutations identified in tumor tissue. However, it is still unknown how much of the genetic alterations identified in primary tumors are consistently detected in tumor tissues in the PDX model. In this study, we analyzed the genetic alterations of three primary colorectal cancers (CRCs) and matched xenograft tissues in PDX models using a next-generation sequencing cancer panel. Of the 17 somatic mutations identified from the three CRCs, 14 (82.4%) were consistently identified in both primary and xenograft tumors. The other three mutations identified in the primary tumor were not detected in the xenograft tumor tissue. There was no newly identified mutation in the xenograft tumor tissues. In addition to the somatic mutations, the copy number alteration profiles were also largely consistent between the primary tumor and xenograft tissue. All of these data suggest that the PDX tumor model preserves the majority of the key mutations detected in the primary tumor site. This study provides evidence that the PDX model is useful for testing targeted therapies in the clinical field and research on precision medicine.

• 한국식품위생안전성학회지
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• 제13권2호
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• pp.135-142
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• 1998

국내 화장품 업계에서 실제 사용되고 있는 합성타르색소인 적색 204호 , 적색215호, 등색 203호의 3가지 색소에 대하여 유전독성시험을 행하였다.Chinese hamster lung(CHL) 세포에서의 염색체이상시험과 ddY 마우스를 이용한 소핵시험 및 초파리 날개를 이용한 체세포돌연변이 재조합 시험을 실시하였다. 그 결과 염색체이상시험과 소핵시험에서는 적색 204, 적색 215, 등색 203호 에서는 유전독성을 나타내는 변이원인으로는 작용하지 않는 것으로 나타났고 초파리 날개를 이용한 체세포돌연변이 시험에서는 각각 100mg/ml에서 single small spot의 출현빈도가 p<0.05의 유의수준에서 대조군에 비해 증가양상을 보였고, twin spot의 빈도 수는 적색 204호의 경우는 50mg/ml 농도에서, 적색 215호의 경우는 100mg/ml 농도에서 p<0.05의 유의수준에서 증가양상을 보여 약한 돌연 변이 원성을 나타내었다.

• Korean Journal of Radiology
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• 제22권12호
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• pp.1996-2005
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• 2021

Objective: To investigate the multidetector computed tomography (MDCT) features of fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) with germline or somatic mutations, and compare them with those of papillary type II RCC (pRCC type II). Materials and Methods: A total of 24 patients (mean ± standard deviation, 40.4 ± 14.7 years) with pathologically confirmed FH-deficient RCC (15 with germline and 9 with somatic mutations) and 54 patients (58.6 ± 12.6 years) with pRCC type II were enrolled. The MDCT features were retrospectively reviewed and compared between the two entities and mutation subgroups, and were correlated with the clinicopathological findings. Results: All the lesions were unilateral and single. Compared with pRCC type II, FH-deficient RCC was more prevalent among younger patients (40.4 ± 14.7 vs. 58.6 ± 12.6, p < 0.001) and tended to be larger (8.1 ± 4.1 vs. 5.4 ± 3.2, p = 0.002). Cystic solid patterns were more common in FH-deficient RCC (20/24 vs. 16/54, p < 0.001), with 16 of the 20 (80.0%) cystic solid tumors having showed typical polycystic and thin smooth walls and/or septa, with an eccentric solid component. Lymph node (16/24 vs. 16/54, p = 0.003) and distant (11/24 vs. 3/54, p < 0.001) metastases were more frequent in FH-deficient RCC. FH-deficient RCC and pRCC type II showed similar attenuation in the unenhanced phase. The attenuation in the corticomedullary phase (CMP) (76.3% ± 25.0% vs. 60.2 ± 23.6, p = 0.008) and nephrographic phase (NP) (87.7 ± 20.5, vs. 71.2 ± 23.9, p = 0.004), absolute enhancement in CMP (39.0 ± 24.8 vs. 27.1 ± 22.7, p = 0.001) and NP (50.5 ± 20.5 vs. 38.2 ± 21.9, p = 0.001), and relative enhancement ratio to the renal cortex in CMP (0.35 ± 0.26 vs. 0.24 ± 0.19, p = 0.001) and NP (0.43 ± 0.24 vs. 0.29 ± 0.19, p < 0.001) were significantly higher in FH-deficient RCC. No significant difference was found between the FH germline and somatic mutation subgroups in any of the parameters. Conclusion: The MDCT features of FH-deficient RCC were different from those of pRCC type II, whereas there was no statistical difference between the germline and somatic mutation subgroups. A kidney mass with a cystic solid pattern and metastatic tendency, especially in young patients, should be considered for FH-deficient RCC.

• 한국자원식물학회:학술대회논문집
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• 한국자원식물학회 2018년도 추계학술대회
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• pp.25-25
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• 2018

The Fukushima Daiichi Nuclear Power Plant accident in March 2011 caused severe radioactive contamination in the surrounding environment. Since the accident, much attention has been paid to the biological and genetic consequences of organism inhabiting the contaminated area. The effect of radiation exposure on genetic mutation rates is little known, especially for low doses and in situ conditions. Evaluating DNA mutation by low levels of radiation dose is difficult due to the rare mutation event and lack of sequence information before the accident. In this study, correlations with air dose levels and somatic DNA mutation rates were evaluated using Next Generation Sequencer for the clonal plant, Phyllostachys edulis. This bamboo is known to spread an identical clone throughout Japan, and it has the advantage that we can compare genetic mutation rate among identical clone growing different air dose levels. We collected 94 samples of P. edulis from 14 sites with air dose rates from $0.04{\sim}7.80{\mu}Gy/h$. Their clonal identity was confirmed by analysis using 24 microsatellite markers, and then, sequences among samples were compared by MIG sequence. The sequence data were obtained from 2,718 loci. About ~200,000 bp sequence (80 bp X 2,718 loci) were obtained for each sample, and this corresponds to about 0.01% of the genome sequence of P. edulis. In these sequences, 442 loci showed polymorphism patterns including recent origin mutation, old mutation, and sequence errors. The number of mutations per sample ranged from 0 to 13, and did not correlate with air dose levels. This result indicated that DNA mutations have not accumulated in P. edulis living in the air doses levels less than $10{\mu}Gy/h$. Our study also suggests that mutation rates can be assessed by selecting an appropriate experimental approach and analyzing with next generation sequencer.

• 한국수정란이식학회지
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• 제31권3호
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• pp.179-183
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• 2016

Even though klotho deficiency in mice exhibits multiple aging-like phenotypes, studies using large animal models such as pigs, which have many similarities to humans, have been limited due to the absence of cell lines or animal models. The objective of this study was to generate homozygous klotho knockout porcine cell lines and cloned embryos. A CRISPR sgRNA specific for the klotho gene was designed and sgRNA (targeting exon 3 of klotho) and Cas9 RNPs were transfected into porcine fibroblasts. The transfected fibroblasts were then used for single cell colony formation and 9 single cell-derived colonies were established. In a T7 endonuclease I mutation assay, 5 colonies (#3, #4, #5, #7 and #9) were confirmed as mutated. These 5 colonies were subsequently analyzed by deep sequencing for determination of homozygous mutated colonies and 4 (#3, #4, #5 and #9) from 5 colonies contained homozygous modifications. Somatic cell nuclear transfer was performed to generate homozygous klotho knockout cloned embryos by using one homozygous mutation colony (#9); the cleavage and blastocyst formation rates were 72.0% and 8.3%, respectively. Two cloned embryos derived from a homozygous klotho knockout cell line (#9) were subjected to deep sequencing and they showed the same mutation pattern as the donor cell line. In conclusion, we produced homozygous klotho knockout porcine embryos cloned from genome-edited porcine fibroblasts.

• Journal of Radiation Protection and Research
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• 제22권1호
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• pp.15-21
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• 1997

인체 T-림프구에서 감마선과 대표적 화학 독성물질인 pentachlorophenol(PCP)의 돌연변이 효과를 hypoxanthine phosphoribosyl transferase(hprt) 유전자의 돌연변이 빈도로써 측정하였다. 감마선은 $^{137}$Cs원을 사용하여 세포의 초기배양 시기에 0-3.0 Gy를 조사하였고, PCP는 세포의 초기배양시 최종농도 0-100 ppm으로 24시간 투여하였다. 돌연변이세포는 6-thioguanine을 처리 하에 세포가 성장하는 능력으로 분류하였다. 방사선에 의한 돌연변이빈도는 1.0 Gy, 2.0 Gy와 3.0 Gy 선량에서 대조군보다 약40%, 400%와 750% 증가하였고 0.2 Gy와 0.5 Gy의 선량에서는 유의성 있는 변화가 없었다. PCP를 15 ppm, 25 ppm 그리고 50 ppm을 처리하였을 때 대조군보다 각각 30%, 90% 및 520%정도 증가하였다.

• Asian Pacific Journal of Cancer Prevention
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• 제15권17호
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• pp.7149-7152
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• 2014

A large number of epidemiological studies have demonstrated that obesity is a risk factor for several human cancers. Several animal studies using rodents with diet-induced or genetic obesity have also demonstrated that obesity can promote tumor development. However, the effects of obesity on the early stages of carcinogenesis, and especially on the spontaneous occurrence of somatic gene mutations, remain unclear. To investigate the effects of obesity on the rate of spontaneous gene mutations, we performed reporter gene mutation assays in liver, kidney, and colon, organs in which obesity appears to be associated with cancer development on the basis of epidemiological or animal studies, in mice with high fat diet (HFD)-induced obesity. Six-week-old male and female C57BL/6 gpt delta mice were fed HFD or standard diet (STD) for 13 or 26 weeks. At the end of the experiments, reporter gene mutation assays of liver, kidney, and colon were performed. Final body weights and serum leptin levels of male and female mice fed HFD for 13 or 26 weeks were significantly increased compared with corresponding STD-fed groups. Reporter gene mutation assays of liver, kidney, and colon revealed that there were no significant differences in gpt or $Spi^-$ mutant frequencies between STD- and HFD-fed mice in either the 13-week or 26-week groups. These results indicate that HFD treatment and consequent obesity does not appear to influence the spontaneous occurrence of somatic gene mutations.

• Journal of Radiation Protection and Research
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• 제23권1호
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• pp.17-23
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• 1998

자주달개비 4430 클론에 있어서 $^{252}Cf$ 중성자에 의해 유발되는 유전자 돌연변이의 선량반응 관계를 확립함과 동시에 TSH 분홍돌연변이를 유발함에 있어서 X-선에 대비한 중성자의 생물학적 효과비를 산출하였다. 돌연변이의 분석은 공시재료의 방사선조사 후 4주 이상 이뤄졌으며 최대변이율을 보이는 조사후 6일부터 13일까지의 분석결과로부터 돌연변이빈도를 산출하였다 가용한 실험범위 내에서 중성자 선량의 증가에 따라 돌연변이빈도의 선형적 증가 양상을 나타내었다. X-선에 비교하여 산출한 중성자의 RBE값은 3.1에서 6.8의 범위를 보였으며 이러한 값은 일반적으로 인지되고 있는 중성자의 RBE값에 비해 상당히 낮은 값이다.