• Title/Summary/Keyword: Chromosome 15

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A Study on the Effect of "ADAPTAGEN"$^{\textregistered}$ Korean Ginseng Components, for the Injured Mouse by X-ray($^{60}Co$) Irradiation (X-방사선($^{60}Co$)에 조사된 새앙쥐의 상해에 대한 "아답태겐"$^{\textregistered}$의 효과에 관한 연구)

  • 공태훈;유성렬
    • Journal of Ginseng Research
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    • v.15 no.3
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    • pp.171-178
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    • 1991
  • The results ok feeding experiments to the mice with ginseng extract, ginseng Powder, and ADAPTAGEN, for 30 days before X-ray irradiation and for 40 days after the X-ray irradiation at 750 rads were as follow: 1. The 50% lethals days (LD50, ) by the X-ray irradiation were 9 days at 1, 000 rads. 10 days at 900 rads, 11 days at 800 rads, 14 days at 760 rads, and 19 darts at 750 rads. Therefore, the standard radiation dose was set at 750 radb/8 min. 2. The 80% of the control group mice exposed to the X-ray radiation without ginseng feeding died in periods ranging from 14 to 24 days and the 20~30% of the ginseng extract and ginseng powder feeding groups died. But the 100% of the mice fed with ADAPTAGEN survived. 3. Testicles of the control group became smaller in weight than the nomad group by 26.5 to 29.0% and those of the ginseng extract and ginseng powder feeding group reduced by 44.6 to 60.4%. However, testicles of the ADAPTiIGEN feeding group increased in size by 77.4% to 87.1% and in weight by 61%, showing a recovery phenomenon approarhing to those of the ordinary mice. The ADAPTAGEN feeding group mice were also as active in color as the ordinary ones. 4. An electron micrograph(X8, 000X2.2) of the liver cells of the mice which had been 40 days after X-ray irradiation showed as follows; The control group appeared that is physiological action stopped due to the frequent occurrence of morphological change of the nucleus and diffusion of chromosome, reduction in microspores and expansion of microsomts, and endoplasmic change of mitochondria. The liver cells or the ADAPTAGEN feeding group were in a state similar to those of the ordinary mice restoring to normalcy In contrast, the liver cells of the ginseng extract and ginseng powder feeding groups were still far from being normal. 5. A serological analysis showed that the control group sharply decreased in albumin, Y-g1obu1in, and IgG so far as to cause dystrophy and to weaken antibody resistance but that ginseng extract and ginseng powder feeding groups, though in a little more restoring state than the control group, were still far from the normal group. The ADAPTAGEN feeding group restored to a state as comparable to the normal group in the contents of albumin ${\gamma}$-globulin, IgG and serum protein. In order words, it is noteworthy that ADAPTAGEN feeding was effective in revitalizing the destroyed cells of a living body and that it has the function of normalizing antibody components.

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DENTAL CARIES TREATMENT FOR A PATIENT WITH ANGELMAN SYNDROME : A CASE REPORT (엔젤만 증후군(Angelman syndrome) 환자의 치아 우식 치료 : 증례 보고)

  • Sang, Eun Jung;Song, Ji-Soo;Shin, Teo Jeon;Kim, Young-Jae;Kim, Jung-Wook;Jang, Ki-Taeg;Lee, Sang-Hoon;Hyun, Hong-Keun
    • The Journal of Korea Assosiation for Disability and Oral Health
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    • v.13 no.2
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    • pp.80-85
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    • 2017
  • Angelman syndrome is a rare disorder caused by deletion or inactivation of genes on the maternally inherited chromosome 15. This neurodevelopmental disorder is characterized by developmental and intellectual delay, speech impairment, sleep disturbance, seizures, motor dysfunction, and frequent laughing or smiling. Orofacial characteristics include a prominent mandible, large mouth, prominent cheeks, a tendency to rest the tongue between the dental arches, excessive drooling, and excessive chewing behavior. Patients with this syndrome usually require general anesthesia even in a simple operation, because of risk of perioperative seizure during dental procedure. This is a case report about dental treatment of a 3-year-old female patient with Angelman syndrome under general anesthesia. This case suggests that the dental treatment under general anesthesia can be considered a safe component for the uncooperative, delayed developmental patients with underlying disease. Also, periodic dental exam appointment should be made to provide the patients with preventive treatments and to make them remain familiar with the dental environment.

Association of Insulin-like growth factor binding protein 2 genotypes with growth, carcass and meat quality traits in pigs

  • Prasongsook, Sombat;Choi, Igseo;Bates, Ronald O.;Raney, Nancy E.;Ernst, Catherine W.;Tumwasorn, Sornthep
    • Journal of Animal Science and Technology
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    • v.57 no.9
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    • pp.31.1-31.11
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    • 2015
  • Background: This study was conducted to investigate the potential association of variation in the insulin-like growth factor binding protein 2 (IGFBP2) gene with growth, carcass and meat quality traits in pigs. IGFBP2 is a member of the insulin-like growth factor binding protein family that is involved in regulating growth, and it maps to a region of pig chromosome 15 containing significant quantitative trait loci that affect economically important trait phenotypes. Results: An IGFBP2 polymorphism was identified in the Michigan State University (MSU) Duroc ${\times}$ Pietrain $F_2$ resource population (n = 408), and pigs were genotyped by MspI PCR-RFLP. Subsequently, a Duroc pig population from the National Swine Registry, USA, (n = 326) was genotyped using an Illumina Golden Gate assay. The IGFBP2 genotypic frequencies among the MSU resource population pigs were 3.43, 47.06 and 49.51 % for the AA, AB and BB genotypes, respectively. The genotypic frequencies for the Duroc pigs were 9.82, 47.85, and 42.33 % for the AA, AB and BB genotypes, respectively. Genotype effects (P < 0.05) were found in the MSU resource population for backfat thickness at $10^{th}$ rib and last rib as determined by ultrasound at 10, 13, 16 and 19 weeks of age, ADG from 10 to 22 weeks of age, and age to reach 105 kg. A genotype effect (P < 0.05) was also found for off test Longissimus muscle area in the Duroc population. Significant effects of IGFBP2 genotype (P < 0.05) were found for drip loss, 24 h postmortem pH, pH decline from 45 min to 24 h postmortem, subjective color score, CIE $L^*$ and $b^*$, Warner-Bratzler shear force, and sensory panel scores for juiciness, tenderness, connective tissue and overall tenderness in MSU resource population pigs. Genotype effects (P < 0.05) were found for 45-min pH, CIE $L^*$ and color score in the Duroc population. Conclusions: Results of this study revealed associations of the IGFBP2 genotypes with growth, carcass and meat quality traits in pigs. The results indicate IGFBP2 as a potential candidate gene for growth rate, backfat thickness, loin muscle area and some pork quality traits.

Evaluation of the Genetic Toxicity of Synthetic Chemicals (Ⅵ) -In vitro Chromosomal Aberration Assay with 17 Chemicals in Chinese Hamster Lung Cells - (합성화학물질들의 유전독성평가(Ⅵ) -Chinese hamster lung세포를 이용한 17종 합성화학물질들의 염색체 이 상 시험 -)

  • Ryu, Jae-Chun;Kim, Kyung-Ran;Kim, Youn-Jung;Jeon, Hee-Kyung
    • Environmental Analysis Health and Toxicology
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    • v.18 no.2
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    • pp.111-120
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    • 2003
  • The validation of many synthetic chemicals that may pose a genetic hazard in our environment is of great concern at present. Since these substances are not limited to the original products, and enter the environment, they have become widespread environmental pollutants, thus leading to a variety of chemicals that possibly threaten the public health. In this respect, the regulation and evaluation of the chemical hazard playa very important role to environment and human health. The clastogenicity of 17 synthetic chemicals was evaluated in Chinese hamster lung fibroblast cells in vitro. 2-Nitroaniline (CAS No. 88-74-4) induced chromosomal aberrations with statistical significance at the concentration of 86.3 ${\mu}$g/ml in the absence of metabolic activation system. 1-Chloroanthraquinone (CAS No. 82-44-0) which is one of the most cytotoxic chemical among 17 chemicals tested revealed no clastogenicity in the range of 0.8 ∼ 3.0 ${\mu}$g/ml both in the presence and absence of S-9 metabolic activation system. From the results of chromosomal aberration assay with 17 synthetic chemicals in Chinese hamster lung cells in vitro, 2-Nitroaniline (CAS No. 88-74-4) revealed weak positive clastogenic results in this study.

Comparison of Gene Mutation Frequency in $Tradescantia$ Stamen Hair Cells Detected after Chernobyl and Fukushima Nuclear Power Plant Accidents

  • Panek, Agnieszka;Miszczyk, Justyna;Kim, Jin-Kyu;Cebulska-Wasilewska, Antonina
    • Korean Journal of Environmental Biology
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    • v.29 no.4
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    • pp.373-378
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    • 2011
  • Our aim was to investigate the genotoxicity of ambient air in the Krak$\acute{o}$w area after Fukushima Nuclear Power Plant (NPP) accident and compare with results from Chernobyl fallout. For the detection of ambient air genotoxicity the technique for screening gene mutation frequency in somatic cells of the $Tradescantia$ stamen hairs ($Trad$-SH assay) was used. Since 11th of March 2011 (Fukushima NPP accident), several pots containing at least 15 shoots of bioindicating plants were exposed to ambient air at 2 sites in the Krak$\acute{o}$w surrounding area, one in the city center, and about 100 pots in a control site (in the glasshouse of the Institute of Nuclear Physics) Continuous screening of mutations was performed. Progenies of 371,090 cells exposed were analyzed. Mutation frequency obtained in the first 10 days has shown a mean control level (GMF*100=$0.06{\pm}0.01$). At scoring period related to influence of a potential Fukushima fallout, a significant increase of gene mutation frequencies above the control level was observed at each site in the range, 0.10~0.33 depending on the location, (mean value for all sites GMF*100=$0.19{\pm}0.05$) that was associated with a strong expression of toxic effects. In the reported studies following the Chernobyl NPP accident monitoring $in$ $situ$ of the ambient air genotoxicity was performed in the period since April $29^{th}$ till June $3^{rd}$ 1986 also with Trad-SH bioindicator. In general, mutation frequency increases due to Chernobyl fallout(GMF*100=$0.43{\pm}0.02$) were corresponding to fluctuation of radioactivity in the air reported from physical measures, and to published reports about increase in chromosome aberration levels. Although, recent data obtained from monitoring of the ambient air quality in the Krak$\acute{o}$w and surroundings are lower when compared to results reported after Chernobyl NPP accident, though results express a significant increase above the control level and also are corresponding with increased air radioactivity reported from physical measurements. Statistically significant in comparison to control increase in gene mutation rates and more prolonged than that after Chernobyl fallout increase of GMF was observed during the period following the Fukushima NPP failure.

Epigenetic Regulation by Modification of Histone Methylation in Embryonic Stem Cells (히스톤 메틸화 변형을 통한 배아줄기세포의 후성 유전학적 조절)

  • Ha, Yang-Hwa;Kim, Young-Eun;Park, Jeong-A;Park, Sang-Kyu;Lee, Young-Hee
    • Development and Reproduction
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    • v.15 no.4
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    • pp.273-279
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    • 2011
  • Epigenetic regulation is a phenomenon that changes the gene function without changing the underlying DNA sequences. Epigenetic status of chromosome is regulated by mechanisms such as histone modification, DNA modification, and RNAi silencing. In this review, we focused on histone methylation for epigenetic regulation in ES cells. Two antagonizing multiprotein complexes regulate methylation of histones to guide expression of genes in ES cells. The Polycomb repressive complex 2 (PRC2), including EED, EZH2, and SUZ12 as core factors, contributes to gene repression by increasing trimethylation of H3K27 (H3K27me3). In contrast, the Trithorax group (TrxG) complex including MLL is related to gene activation by making H3K4me3. PRC2 and TrxG accompany a variety of accessory proteins. Most prominent feature of epigenetic regulation in ES cells is a bivalent state in which H3K27me3 and H3K4me3 appear simultaneously. Concerted regulation of PRC2, TrxG complex, and H3K4- or H3K27-specific demethylases activate expression of pluripotency-related genes and suppress development-related genes in ES cells. Modified balance of the regulators also enables ES cells to efficiently differentiate to a variety of cells upon differentiating signals. More detailed insights on the epigenetic regulators and their action will lead us to better understanding and use of ES cells for future application.

A Case of End-Stage Renal Disease with Joubert Syndrome due to CEP290 Mutation (CEP290 돌연변이로 인해 발생한 Joubert 증후군 말기 신부전 1례)

  • Kim, Sung Hoon;Lee, Sang Taek;Seong, Moon-Woo;Kim, Man Jin;Lee, Jun Hwa
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.20 no.1
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    • pp.29-35
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    • 2020
  • Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.

Stable Transmission and Expression of TPO Transgene up to 10 Generation in the Transgenic Mice (형질전환 생쥐에서 제10세대까지 TPO 유전자의 안정적 전이와 지속적인 발현)

  • 정진우;오건봉;한용만;이경광
    • Korean Journal of Animal Reproduction
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    • v.27 no.1
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    • pp.9-14
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    • 2003
  • The pBT-L transgenic mice carrying human TPO gene in conjunction with bovine $\beta$-casein promoter express human TPO in milk during lactation. In this study, stability of germ line transmission and expression of pBT-L transgene integrated into host chromosome were monitored up to generation F10 of transgenic pBT-L/15 line. When male mouse of generation F8 was crossbred with normal females, approximately half of offsprings (51.3$\pm$18.98%) were identified as transgenic mice. Generation F9 and F 10 mice also showed similar transmission rates (43.8$\pm$18.98% and 71.4$\pm$26.98%, respectively), implying that pBT-L transgene can be transmitted stably up to long term generation in the transgenic mice. Expression levels of human TPO from milk of generation F9 and F10 mice were 1.1$\pm$0.33 mg/ml and 1.1 $\pm$0.45 mg/ml, respectively, which are similar to expression level of generation F2 mice. In conclusion, our results suggest that transgenic animals once established will continuously pass their transgenes to the progeny through the breeding program with the same productivity of human protein in their milk.

Effect of Taxol Pre-treatment to In Vitro Matured Bovine Oocytes on Spindle Morphology and Embryonic Development Following Vitrification

  • Park, Sang-Hyoun;Yu, Il-Jeoung
    • Journal of Embryo Transfer
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    • v.23 no.4
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    • pp.269-274
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    • 2008
  • The purpose of this study was to determine the effects of Taxol pre-treatment to in vitro matured bovine oocytes, and sucrose and trehalose added to vitrification solution on spindle morphology and embryonic development following cryopreservation. Bovine oocytes were collected from ovaries and matured in tissue culture medium 199 (TCM 199) supplemented with 10% Fetal Bovine Serum (FBS), 0.05ng/ml epidermal growth factor, 0.01 IU/ml luteinizing hormone and $1{\mu}g/ml$ estradiol for 22h in $39^{\circ}C$, 5% $CO_2$, TCM 199-HEPES containing 20% FBS was used as basic medium (BM) to prepare vitrification solution. Oocytes were pre-treated with $1\;{\mu}M$ Taxol in maturation medium for 15 min prior to vitrification. Oocytes were exposed to 1.6 M ethylene glycol (EG) and 1.3M dimethyl sulfoxide (DMSO) in BM and then were exposed to 3.2 M EG, 2.6 M DMSO and 0.5 M sucrose in BM or 3.2 M EG, 2.6 M DMSO and 0.5 M trehalose in BM. Oocytes with cumulus cells and oocytes without cumulus cells were considered as control 1 and control 2, respectively and held in TCM 199-HEPES at $39^{\circ}C$. Oocytes were frozen using modified solid surface vitrification and were stored in cryotubes in liquid nitrogen for more than 1 week. Frozen oocytes were thawed in TCM 199-HEPES containing 0.5 M, 0.25 M and 0.1 M sucrose in BM for 2 min, respectively or 0.5 M, 0.25 M and 0.1 M trehalose in BM for 2 min, respectively. Immunoflurorescence staining of oocytes was performed to assess spindle morphology and chromosome configuration of oocytes. The rates of cleavage and blastocyst were examined following in vitro fertilization. Normal spindle morphology rate of oocytes pre-treated with Taxol prior to vitrification was not higher than that of other vitrified groups. Taxol pre-treatment did not increase cleavage and blastocyst formation rates, although control groups showed significantly higher rates (p<0.05). Percentages of normal spindle and embryonic development were not significantly different among vitrified groups regardless of type of sugar. In conclusion, Taxol pre-treatment of oocytes before cryopreservation did not reduce the damage induced by vitrification and subsequently did not improve embryonic development following vitrification. Trehalose may be used as an alternative non-permeating cryoprotectant in vitrification solution.

Molecular Cloning and Bioinformatic Analysis of SPATA4 Gene

  • Liu, Shang-Feng;Ai, Chao;Ge, Zhong-Qi;Liu, Hai-Luo;Liu, Bo-Wen;He, Shan;Wang, Zhao
    • BMB Reports
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    • v.38 no.6
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    • pp.739-747
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    • 2005
  • Full-length cDNA sequences of four novel SPATA4 genes in chimpanzee, cow, chicken and ascidian were identified by bioinformatic analysis using mouse or human SPATA4 cDNA fragment as electronic probe. All these genes have 6 exons and have similar protein molecular weight and do not localize in sex chromosome. The mouse SPATA4 sequence is identified as significantly changed in cryptorchidism, which shares no significant homology with any known protein in swissprot databases except for the homologous genes in various vertebrates. Our searching results showed that all SPATA4 proteins have a putative conserved domain DUF1042. The percentages of putative SPATA4 protein sequence identity ranging from 30% to 99%. The high similarity was also found in 1 kb promoter regions of human, mouse and rat SPATA4 gene. The similarities of the sequences upstream of SPATA4 promoter also have a high proportion. The results of searching SymAtlas (http://symatlas.gnf.org/SymAtlas/) showed that human SPATA4 has a high expression in testis, especially in testis interstitial, leydig cell, seminiferous tubule and germ cell. Mouse SPATA4 was observed exclusively in adult mouse testis and almost no signal was detected in other tissues. The pI values of the protein are negative, ranging from 9.44 to 10.15. The subcellular location of the protein is usually in the nucleus. And the signal peptide possibilities for SPATA4 are always zero. Using the SNPs data in NCBI, we found 33 SNPs in human SPATA4 gene genomic DNA region, with the distribution of 29 SNPs in the introns. CpG island searching gives the data about CpG island, which shows that the regions of the CpG island have a high similarity with each other, though the length of the CpG island is different from each other.This research is a fundamental work in the fields of the bioinformational analysis, and also put forward a new way for the bioinformatic analysis of other genes.