• Title/Summary/Keyword: aberrations

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Ataxin-2 Dysregulation Triggers a Compensatory Fragile X Mental Retardation Protein Decrease in Drosophila C4da Neurons

  • Cha, In Jun;Lee, Davin;Park, Sung Soon;Chung, Chang Geon;Kim, Seung Yeon;Jo, Min Gu;Kim, Seung Yeol;Lee, Byung-Hoon;Lee, Young-Sam;Lee, Sung Bae
    • Molecules and Cells
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    • v.43 no.10
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    • pp.870-879
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    • 2020
  • Dendrites require precise and timely delivery of protein substrates to distal areas to ensure the correct morphology and function of neurons. Many of these protein substrates are supplied in the form of ribonucleoprotein (RNP) complex consisting of RNA-binding proteins (RBPs) and mRNAs, which are subsequently translated in distal dendritic areas. It remains elusive, however, whether key RBPs supply mRNA according to local demands individually or in a coordinated manner. In this study, we investigated how Drosophila sensory neurons respond to the dysregulation of a disease-associated RBP, Ataxin-2 (ATX2), which leads to dendritic defects. We found that ATX2 plays a crucial role in spacing dendritic branches for the optimal dendritic receptive fields in Drosophila class IV dendritic arborization (C4da) neurons, where both expression level and subcellular location of ATX2 contribute significantly to this effect. We showed that translational upregulation through the expression of eukaryotic translation initiation factor 4E (eIF4E) further enhanced the ATX2-induced dendritic phenotypes. Additionally, we found that the expression level of another disease-associated RBP, fragile X mental retardation protein (FMRP), decreased in both cell bodies and dendrites when neurons were faced with aberrant upregulation of ATX2. Finally, we revealed that the PAM2 motif of ATX2, which mediates its interaction with poly(A)-binding protein (PABP), is potentially necessary for the decrease of FMRP in certain neuronal stress conditions. Collectively, our data suggest that dysregulation of RBPs triggers a compensatory regulation of other functionally-overlapping RBPs to minimize RBP dysregulation-associated aberrations that hinder neuronal homeostasis in dendrites.

A study on association of progesterone receptor gene polymorphism (PROGINS) with Endometriosis (자궁내막증과 progesterone receptor gene polymorphism (PROGINS)과의 연관성에 관한 연구)

  • Kim, Yun-Jin;Noh, Ji-Hyun;Koh, Jae-Whoan;Kim, Yong-Bong
    • Journal of Genetic Medicine
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    • v.4 no.2
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    • pp.128-132
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    • 2007
  • Purpose : Endometriosis is a steroid dependent disease with a particular genetic background but the location of possible genomic aberrations are still poorly clarified. This study was designed to investigate the associations between the polymorphism of the progesterone receptor gene (PROGINS) and endometriosis. Methods : 100 women with surgically diagnosed and histologically confirmed endometriosis were enrolled as a patient population and a total of 110 female control subjects undergoing health examination were enrolled as control population. DNA extraction and polymerase chain reaction (PCR) were used to genotype women for the presence of the PROGINS polymorphism in peripheral blood samples. The x2-test was used to compare genotype distributions between endometriosis and controls. Results : T1/T2 heterozygote was found to be one patient in each group, and the rest of the subjects were all T1/T1 homozygotes. There was no difference in the genotype distribution between the endometriosis group and the control group. Conclusion : These results suggest that the progesterone receptor gene PROGINS is not associated with the risk for endometriosis.

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Studies on Genetic Toxicity of Epoxidized Soy Bean Oil (에폭시화 대두유의 유전독성 연구)

  • 한의식;정해관;김종원;박미선;엄미옥;강혁준;민수진;오혜영
    • Journal of Food Hygiene and Safety
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    • v.16 no.2
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    • pp.145-151
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    • 2001
  • EpoxidiBed soy bean oil (ESBO) is a plasticizer of PVC which is being widely used as a gaskets for the lid of glass jars including baby food. Using reverse mutation assay, chromosome aberration test and micronucleus test, ESBO were evaluated the mutagenicity. In the reverse mutation test, ESBO did not induced mutagenicity in Salmonella typhimurium TA98, TA100, TA1535, TA1537, TA102 with and without metabolic activation. In the chromosome aberration test using CHL cells, the results showed no increased structural and numerical aberrations in the concentration of sample producing cytotoxicity with and without metabolic activation. The in vivo induction of micronuclei was measured in polychromatic erythrocytes of bone marrow of young (3weeks old) and adult (6 weeks old) ddY mice of both sex. At 24 hours after treatment with ESBO 20, 10, 5, 2.5 g/B.W. kg/corn oil 10 ml by oral route animals were sacrificed and bone marrow cells were prepared for smear slides. The results showed no increased micronucleated polychromatic erythrocytes regardless of sex and age. It was concluded that water soluble ESBO did not show certain genotoxicity within our studies conducted.

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Effect of Maternal Age on Chromosome Aberrations and Telomere Quantity in Chick Embryos (닭의 모체 연령에 따른 생산 배아의 염색체 이상 빈도 및 텔로미어 함량 분석)

  • Lee, Soo-Hee;Subramani, Vinod K.;Sohn, Sea-Hwan
    • Korean Journal of Poultry Science
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    • v.36 no.4
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    • pp.293-300
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    • 2009
  • The rate of fetus with abnormal chromosomes increase with maternal age. Nondisjunction of aging oocyte chromosome is a major reason for the increased rate of abnormalities. Telomeres are the ends of eukaryotic chromosome, which are essential for chromosome stability and are related in cell senescence. This study was carried out to analyze the chromosome aberration rate and amount of telomeric DNA in chick embryo along with maternal age. Fertilized eggs and blood were sampled from White Leghorn layers starting at 20 weeks through to 70 weeks age at 10 weeks interval. Chromosome aberration rate was analyzed by karyotyping. The amounts of telomeric DNA in embryonic cells and lymphocytes were quantified by Quantitative Fluorescence in situ Hybridization method. The chromosome aberration rate in chick embryos significantly differed with maternal age. The chromosome aberration rate increased at early laying period and beyond 70 weeks of maternal age. Therefore, chromosome aberration rate was affected by maternal age due to ovulated oocytes state. However, the amount of telomeric DNA on embryonic cells did not differ significantly with maternal age. Thus, maternal age does not affects telomere quantity in their embryos due to cellular reprograming at early embryonic stage after fertilization.

초파리 집단내 역위빈도의 계절적 변동에 관한 연구

  • Lee, Tae-Hun;Gwon, Guk-Il;Im, Nak-Ryong
    • The Korean Journal of Zoology
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    • v.31 no.4
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    • pp.327-333
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    • 1988
  • 계절에 따른 초파리 집단내 역위다형 현상의 변동상을 알기 위하여 전주근교의 과수원에서 1983년 1월부터 11월까지 격월로 여섯번 채집한 집단 표본을 분석하였다. 총 1071마리에서 얻은 15개형의 역위는 모두 편동원체역위(paracentric inversion)였으며, 이 중 7개형은 세계형91위(cosmopolitan inversion)였고, 나머지 8개형은 지역형역위(endemic inversion)였다. 개체당 역위의 평균 보유수는 0.639이고 역위를 보유한 개체의 빈도는 0.465였다. 7개의 세계형역위에 대한 표본집단을 분석한 결과 격월 집단간에서 유의한 차이를 보이는 반면 1월과 1 1월 표본간에서는 그 성황이 오히려 비숫해짐으로서 집단내 총역위빈도는 주기적으로 변동하고 있음이 암시된다. 역위와 환경변수와의 다중상관분석에서는 기온, 습도, 강수량이 역위빈도에 유의한 영향을 미치는 것으로 나타났고 역위 중 In(2L)t가 상기한 환경변수 모두에 대하여 유의한 상관관계를 보인 반면, In(3R)C와 In(3R)P는 어느 것과도 상관성을 보이지 않았다. 염색체내 그리고 염색체간의 연관 또는 조합의 검정결과 연관불평형혈상을 1월, 5월, 그리고 7월 표본의 제3염색체에서, 그리고 비균일조합은 1월과 7월 표본에서 역시 제3염색체에서만 산출 되었다. Seasonal changes of inversion frequencies in Chonju 0. melanogaster populations were studied. A total of 1071 males were collected six times with ho months intewal from January through November in 1983. to analyse diploid sets of chromosomes carried by males, each male was mated to several virgin females homoBvgous for cytologically standard sequence in all chromo-somes. From each mating, more than seven FL larvae were selected in random and tested to find chromosomal aberrations. In the present study, 15 different inversions were found and identified to be paracentric only In both second and third chromosomes; seven were cosmopolitan and the rest eight endemic types. The average frequency of inversions was 0.465 and the mean number of inversions carried by a single male was 0.639. The linkage disequilibria were detected between the leK and right arms of third chromosomes from the samples of January, May and Julv, Whereas nonrandom associations appeared also in the third chromosomes only in January and Julv samples. In multiple regression analysis among frequencies of inversions and environ-mental variables it appeared that mean temperature, relative humidity and total precipitation for a month skipped over 30 days before collected affect to change to frequencies of particular inver-sions. With respect to the behavior of inversions in the present samples, it is suggested, with the Friedman's analysis of variance by ranks of inversion frequency orders, that the frequencies of inversions change cyclically year to year.

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Mutagenecity evaluation of insecticidal 2-carbomethoxy-4-chlorodiethyl phosphate in short-term bioassays (살충성 물질 2-carbomethoxy-4-chlorodiethyl phosphate의 유전독성 평가)

  • Lee, Je-Bong;Sung, Ha-Jung;Jeong, Mi-Hye;Kwon, Oh-Kyung;Lee, Hae-Keun;Kim, Young-Koo
    • The Korean Journal of Pesticide Science
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    • v.2 no.2
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    • pp.53-58
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    • 1998
  • For evaluating the mutagenic potential of 2-carbomethoxy-4-chlorodiethyl phosphate, three different short-term mutagenicity tests were used; Salmonella typhimurium preincubation assay with and without rat liver microsomal activation, chromosome aberration test in cultured chinese hamster lung fibroblast cell and in vivo micronucleus test in male mice bone marrow. In Salmonella typhimurium reverse mutation assay using TA98, TA100, TAl535 and TAl537, 2-carbomethoxy-4-chlorodiethyl phosphate did not show any mutagenic response in the presence and absence of S9 mix. It did not induce any significant structural chromosome aberrations in the absence of metabolic activation. In micronucleus test using ICR mice, the frequency of micronucleated polychromatic erythrocytes (MNPCE) increased in bone marrow cells treated with positive control, mitomycin-C, but 2-carbomethoxy-4-chlorodiethyl phosphate did not increase micronucleated polychromatic erythrocytes. These results indicate that 2-carbomethoxy-4-chlorodiethyl phosphate does not show any positive responses in short-term genotoxicity assays.

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Hybrid (refrctive/diffractive) lens design for the ultra-compact camera module (초소형 영상 전송 모듈용 DOE(Diffractive optical element)렌즈의 설계 및 평가)

  • Lee, Hwan-Seon;Rim, Cheon-Seog;Jo, jae-Heung;Chang, Soo;Lim, Hyun-Kyu
    • Korean Journal of Optics and Photonics
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    • v.12 no.3
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    • pp.240-249
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    • 2001
  • A high speed ultra-compact lens with a diffractive optical element (DOE) is designed, which can be applied to mobile communication devices such as IMT2000, PDA, notebook computer, etc. The designed hybrid lens has sufficiently high performance of less than f/2.2, compact size of 3.3 mm (1st surf. to image), and wide field angle of more than 30 deg. compared with the specifications of a single lens. By proper choice of the aspheric and DOE surface which has very large negative dispersion, we can correct chromatic and high order aberrations through the optimization technique. From Seidel third order aberration theory and Sweatt modeling, the initial data and surface configurations, that is, the combination condition of the DOE and the aspherical surface are obtained. However, due to the consideration of diffraction efficiency of a DOE, we can choose only four cases as the optimization input, and present the best solution after evaluating and comparing those four cases. On the other hand, we also report dramatic improvement in optical performance by inserting another refractive lens (so-called, field flattener), that keeps the refractive power of an original DOE lens and makes the petzval sum zero in the original DOE lens system. ystem.

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Genotoxicological Safety Evaluation of X-ray Irradiated Four Foods (X-선 조사식품 4종의 유전독성학적 안전성 평가)

  • Jung, Da-Woon;Huang, Yu-Hua;Song, Beom-Seok;Byun, Myung-Woo;Kang, Il-Jun
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.43 no.10
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    • pp.1588-1593
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    • 2014
  • This study evaluated the genotoxic effects of 30 kGy of X-ray irradiation to four foods (chicken, egg powder, dried green onion, and black pepper). In bacterial reversion assay with Salmonella Typhimurium TA98, TA100, TA1535, and TA1537, the X-ray irradiated foods did not show a significantly increased number of revertant colonies in the presence or absence of the S9 metabolic activation system. In chromosomal aberration tests with Chinese hamster ovary (CHO) cells, the X-ray irradiated foods showed no increase in the frequency of chromosomal aberrations. In in vivo mouse micronucleus assay, the X-ray irradiated foods did not show any increase in the frequency of polychromatic erythrocytes with micronuclei. These results indicate that 30 kGy of X-ray irradiation to four foods (chicken, egg powder, dried green onion, and black pepper) showed no genotoxic effects under these experimental conditions.

Genomic DNA Chip: Genome-wide profiling in Cancer

  • 이종호
    • Proceedings of the Korean Society for Bioinformatics Conference
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    • 2001.10a
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    • pp.61-86
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    • 2001
  • All cancers are caused by abnormalities in DNA sequence. Throughout life, the DNA in human cells is exposed to mutagens and suffers mistakes in replication, resulting in progressive, subtle changes in the DNA sequence in each cell. Since the development of conventional and molecular cytogenetic methods to the analysis of chromosomal aberrations in cancers, more than 1,800 recurring chromosomal breakpoints have been identified. These breakpoints and regions of nonrandom copy number changes typically point to the location of genes involved in cancer initiation and progression. With the introduction of molecular cytogenetic methodologies based on fluorescence in situ hybridization (FISH), namely, comparative genomic hybridization (CGH) and multicolor FISH (m-FISH) in carcinomas become susceptible to analysis. Conventional CGH has been widely applied for the detection of genomic imbalances in tumor cells, and used normal metaphase chromosomes as targets for the mapping of copy number changes. However, this limits the mapping of such imbalances to the resolution limit of metaphase chromosomes (usually 10 to 20 Mb). Efforts to increase this resolution have led to the "new"concept of genomic DNA chip (1 to 2 Mb), whereby the chromosomal target is replaced with cloned DNA immobilized on such as glass slides. The resulting resolution then depends on the size of the immobilized DNA fragments. We have completed the first draft of its Korean Genome Project. The project proceeded by end sequencing inserts from a library of 96,768 bacterial artificial chromosomes (BACs) containing genomic DNA fragments from Korean ethnicity. The sequenced BAC ends were then compared to the Human Genome Project′s publicly available sequence database and aligned according to known cancer gene sequences. These BAC clones were biotinylated by nick translation, hybridized to cytogenetic preparations of metaphase cells, and detected with fluorescein-conjugated avidin. Only locations of unique or low-copy Portions of the clone are identified, because high-copy interspersed repetitive sequences in the probe were suppressed by the addition of unlabelled Cotl DNA. Banding patterns were produced using DAPI. By this means, every BAC fragment has been matched to its appropriate chromosomal location. We have placed 86 (156 BAC clones) cytogenetically defined landmarks to help with the characterization of known cancer genes. Microarray techniques would be applied in CGH by replacement of metaphase chromosome to arrayed BAC confirming in oncogene and tumor suppressor gene: and an array BAC clones from the collection is used to perform a genome-wide scan for segmental aneuploidy by array-CGH. Therefore, the genomic DNA chip (arrayed BAC) will be undoubtedly provide accurate diagnosis of deletions, duplication, insertions and rearrangements of genomic material related to various human phenotypes, including neoplasias. And our tumor markers based on genetic abnormalities of cancer would be identified and contribute to the screening of the stage of cancers and/or hereditary diseases

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Effect of Stress Sound on the Development of the Black Soldier Fly, Hermetia illucens (아메리카동애등에 발육에 미치는 스트레스 음파 효과)

  • Park, Jiyeong;Lee, Sanghoon;Lee, Hanwoong;Kim, Yonggyun
    • Korean journal of applied entomology
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    • v.52 no.3
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    • pp.227-237
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    • 2013
  • The black soldier fly (BSF), Hermetia illucens, is a generalist detritivore that is usually exploited for recycling environmental wastes, including food remnants. These insects can also be used to produce antibiotics for medical applications. For this purpose, flies need to be mass-reared using an automatic rearing system that generates various sounds. Insects use sound as a means of communication for mating or warning against predators. Thus, extrinsic sounds may interrupt the normal physiological processes of insects. In this study, we analyzed the physiological changes due to various sound treatments at $25^{\circ}C$ and 8:16 h (L:D) photoperiod. At 95 dB, larvae were exposed to different sound frequencies (0-5,000 Hz). The treated larvae were adversely affected by the high-frequency sounds and showed significant reduction in pupation and adult emergence. Different sound intensities (0-105 dB) at 5,000 Hz caused significant changes in the pupation and survival of the adults at 85 dB or above. Under a stress sound condition (5,000 Hz, 95 dB), the BSF larvae exhibited aberrations in the expression of genes related to the immune system and digestion. These results indicate that high-frequency sound treatments at or above 85 dB act as a stress sound to BSF development.