• Title/Summary/Keyword: 3p deletion

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Genomic Organization and Promoter Characterization of the Murine Glial Cell-derived Neurotrophic Factor Inducible Transcription Factor (mGIF) Gene (생쥐 신경교세포 유래 신경영양인자 유도성 전사인자 (mGIF) 유전자의 유전체 구조 및 프로모터 특성 분석)

  • Kim, Ok-Soo;Kim, Yong-Man;Kim, Nam-Young;Lee, Eo-Jin;Jang, Min-Kyung;Lee, Dong-Geun;Lee, Sang-Hyeon
    • Journal of Life Science
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    • v.17 no.2 s.82
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    • pp.167-173
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    • 2007
  • To study the transcriptional mechanisms by which expression of the murine glial cell-derived neurotrophic factor inducible transcription factor (mGIF) gene is regulated, a murine genomic clone was iso-lated using a mGIF cDNA as probe. A 13-kb genomic fragment, which comprises 4-kb upstream of the transcription initiation site was sequenced. The promoter region lacks a TATA box and CAAT box, is rich in G+C content, and has multiple putative binding sites for the transcription factor Spl. The mGIF gene also has consensus sequences for AP2 binding sites. The transcriptional activity of five deletion mutants of a 2.1-kb fragment was analyzed by modulating transcription of the heterologous luciferase gene in the promoterless plasmid pGL2-Basic. All mutants showed significant transcriptional activity in the murine neuroblastoma cell line NB41A3. Transient expression assays suggested the presence of a positive regulator between -213 and -129 while a negative regulator was found in the region between -806 and -214. Relatively strong transcriptional activity was observed in neuronal NB41A3, glial C6 cells and hepatic HepG2, but very weak activity in skeletal muscle C2C12 cells. These findings confirm the tissue-specific activity of the mGIF promoter and suggest that this gene shares structural and functional similarities with the dopamine receptor genes that it regulates.

Diversity, Saccharification Capacity, and Toxigenicity Analyses of Fungal Isolates in Nuruk (누룩곰팡이 분리균의 다양성 및 당화능 분석과 독소생산능 조사)

  • Kim, Min Sik;Kim, Sinil;Ha, Byeong-Seok;Park, Hye-Young;BaeK, Seong-Yeol;Yeo, Soo-Hwan;Ro, Hyeon-Su
    • The Korean Journal of Mycology
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    • v.42 no.3
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    • pp.191-200
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    • 2014
  • Nuruk samples collected from various regions in Korea were investigated in terms of fungal contents and diversity. In measurement of colony forming unit (CFU) in Nuruk suspensions on DRBC agar, Nuruk samples MS4, MS8, and MS10 were among the highest fungal density, with $1,278.9{\pm}21.6$ (${\times}10^4$), $1,868.0{\pm}27.7$ (${\times}10^4$), and $775.1{\pm}19.2$ (${\times}10^4$) were among the samples showing the highest fungal density. CFU per 20 mg Nuruk, respectively. The majority of fungal components were yeasts, including Pichia anomala, P. kudriavzevii, Kluyveromyces marxianus, and Saccharomycopsis fibuligera, whereas Aspergillus oryzae and Rhizopus oryzae, the representative Nuruk fungi, were predominant only in the low fungal density Nuruks (MS2, MS5, and MS11). Saccharification capability of the fungal isolates was assessed by measurement of amylase activity in the culture broth. The highest amylase activity was found in A. niger and A. luchuensis, followed by S. fibuligera. A. oryzae and R. oryzae showed fair amylase activity but significantly lower than those of the three fungal species. R. oryzae was suggested to play an additional role in degradation of ${\beta}$-glucan in crop component of Nuruk since R. oryzae was the only fungus that showed ${\beta}$-glucanase activity among the fungal isolates. To confirm the safety of Nuruk, aflatoxigenicity of the isolated Aspergillus was estimated using the DNA markers norB-cypA, aflR, and omtA. All of the isolates turned out to be non-aflatoxigenic as evidenced by the deletion of gene markers, norB-cypA and aflR, and the absence of aflatoxin in the culture supernatants shown by TLC analysis.

Bioactivities and Isolation of Functional Compounds from Decay-Resistant Hardwood Species (고내후성 활엽수종의 추출성분을 이용한 신기능성 물질의 분리 및 생리활성)

  • 배영수;이상용;오덕환;최돈하;김영균
    • Journal of Korea Foresty Energy
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    • v.19 no.2
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    • pp.93-101
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    • 2000
  • Wood of Robinia pseudoacacia and bark of Populus alba$\times$P. glandulosa, Fraxinus rhynchophylla and Ulmus davidiana var. japonica were collected and extracted with acetone-water(7:3, v/v) in glass jar to examine whether its bioactive compounds exist. The concentrated extracts were fractionated with hexane, chloroform, ethylacetate and water, and then freeze-dried for column chromatography and bioactive tests. The isolated compounds were sakuranetin-5-O-$\beta$-D-glucopyranoside from Populus alba $\times$Pl glandulosa, 4--ethyoxy-(+)-leucorobinetinidin frm R. pseudoacacia and fraxetion from F. rhynchophylla and were characterized by $^1H$ and$^{13}C $ NMR and positive FAB-MS. Decay-resistant activity was expressed by weight loss ratio and hyphae growth inhibition in the wood dust agar medium inoculated wood rot fungi. R. pseudoacacia showed best anti-decaying property in both test and its methanol untreated samples, indicating higher activity than methanol treated samples in hyphae grwoth test. In antioxidative test, $\alpha$-tocopherol, one of natural antioxidants, and BHT, one of synthetic antioxidants, were used as references to cmpare with the antioxidant activities of the extacted fractions. Ethylacetate fraction of F. rhynchophylla bark indicated the hightest activity in this test and all fractions of R. pseudiacacia extractives also indicated higher activities compared with the other fractions. In the isolated compounds, aesculetin isolated from F. rhynchophylla bark showed best activity and followed by robonetinidin from R. pseudoacaica.

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Monocentric Derivative Y Chromosome with Duplication of the SRY Gene in an Azoospermic Male (무정자증 불임남성에서 관찰된 SRY 유전자의 중복을 동반한 일동원체성 derivative Y 염색체)

  • Choi, Eun-Young;Lee, Bom-Yi;Park, Ju-Yeon;Lee, Yeon-Woo;Oh, Ah-Rum;Lee, Shin-Young;Kim, Shin-Young;Han, You-Jung;Lee, Mee-Bum;Ryu, Hyun-Mee;Seo, Ju-Tae;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.160-164
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    • 2010
  • Structural abnormalities of the Y chromosome affect normal testicular differentiation and spermatogenesis. The present case showed a rare monocentric derivative Y chromosome with partial duplication of Yp including the SRY gene and deletion of Yq12 heterochromatin. The karyotype was 46,X,der(Y)(pter${\rightarrow}$q11.23::p11.2${\rightarrow}$pter).ish der(Y)(DYZ3+,DYZ1-,SRY++), confirmed through a FISH study. Even though the patient possessed an abnormal Y chromosome, testicular biopsy showed normal testicular volumes in the proband, with gonadal hormonal levels in the normal range but bilateral varicocele and hypospermatogenesis. We speculate that the abnormal Y chromosome arose from sister chromatids during Y chromosome recombination or intra chromosomal NAHR (non-allelic homologous recombination) during meiosis in the patient's father or in the very early stages of embryogenesis. The derivative Y chromosome might interfere in the meiotic stage of spermatogenesis, leading to the developmental arrest of germ cells. The present case illustrates that the infertility phenotype can have various causes. Also, it emphasizes the importance of accurate and various genetic analyses and could aid in male infertility treatment.

Outcome of Preimplantation Genetic Diagnosis for Chromosome Aneuploidy and Genetic Disease (유전질환 및 염색체 이상의 예방을 위한 착상전 유전진단의 결과)

  • Kim, Jin-Yeong;Lim, Chun-Kyu;Song, In-Ok;Yoo, Keun-Jai;Yang, Kwang-Moon;Han, Kuk-Sun;Hur, Kuol;Song, Ji-Hong;Jun, Jin-Hyun;Min, Dong-Mi;Park, So-Yeon;Jun, Jong-Young;Koong, Mi-Kyoung;Kang, Inn-Soo
    • Clinical and Experimental Reproductive Medicine
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    • v.29 no.4
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    • pp.269-278
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    • 2002
  • Objective s: Chromosome aneuploidy is associated with recurrent abortion and congenital anomaly and genetic diseases occur repeatedly in the specific families. Preimplantation genetic diagnosis (PGD) can prevent aneuploidy or genetic disease by selecting normal embryos before implantation and is an alternative to prenatal diagnosis. The aim of this study is to assess the outcome of PGD cycles by using FISH or PCR, and to determine the clinical usefulness and values in patients with risk of chromosomal aneuploidy or genetic disease. Materials and Methods: From 1995 to Apr. 2001, a total of 108 PGD cycles in 65 patients with poor reproductive outcome were analyzed. The indications of PGD were translocation (n=49), inversion (n=2), aneuploidy screening (n=7), Duchenne muscular dystrophy (n=5) and spinal muscular atrophy (n=2). PGD was applied due to the history of recurrent abortion, previous birth of affected child or risk of aneuploidy related to sex chromosome aneuploidy or old age. Blastomere biopsy was performed in 6$\sim$10 cell stage embryo after IVF with ICSI. In the single blastomere, chromosome aneuploidy was diagnosed by using FISH and PCR was performed for the diagnosis of exon deletion in DMD or SMA. Results: The FISH or PCR amplification was successful in 94.3% of biopsied blastomeres. The rate of transferable balanced emb ryos was 24.0% in the chromosome translocation and inversion, 57.1% for the DMD and SMA, and 28.8% for the aneuploidy screening. Overall hCG positive rate per transfer was 17.8% (18/101) and clinical pregnancy rate was 13.9% (14/101) (11 term pregnancy, 3 abortion, and 4 biochemical pregnancy). The clinical pregnancy rate of translocation and inversion was 12.9% (11/85) and abortion rate was 27.3% (3/11). In the DMD and SMA, the clinical pregnancy rate was 33.3% (3/9) and all delivered at term. The PGD results were confirmed by amniocentesis and were correct. When the embryos developed to compaction or morula, the pregnancy rate was higher (32%) than that of the cases without compaction (7.2%, p<0.01). Conclusions: PGD by using FISH or PCR is useful to get n ormal pregnancy by reducing spontaneous abortion associated with chromosome aneuploidy in the patients with structural chromosome aberration or risk of aneuploidy and can prevent genetic disease prior to implantation.

Molecular Identification of Zoysia japonica and Zoysia sinica (Zoysia Species) Based on ITS Sequence Analyses and CAPS (ITS 염기서열 분석 및 CAPS를 이용한 조이시아 속(Zoysia) 들잔디와 갯잔디의 구별)

  • Hong, Min-Ji;Yang, Dae-Hwa;Jeong, Ok-Cheol;Kim, Yang-Ji;Park, Mi-Young;Kang, Hong-Gyu;Sun, Hyeon-Jin;Kwon, Yong-Ik;Park, Shin-Young;Yang, Paul;Song, Pill-Soon;Ko, Suk-Min;Lee, Hyo-Yeon
    • Horticultural Science & Technology
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    • v.35 no.3
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    • pp.344-360
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    • 2017
  • Zoysiagrasses are important turf plants used for school playgrounds, parks, golf courses, and sports fields. The two most popular zoysiagrass species are Zoysia japonica and Zoysia sinica. These are widely distributed across different growing zones and are morphologically distinguishable from each other; however, it is phenotypically difficult to differentiate those that grow along the coastal line from those in beach area habitats. A combination of morphological and molecular approaches is desirable to efficiently identify these two plant cultivars. In this study, we used a rapid identification system based on DNA barcoding of the nrDNA-internal transcribed spacer (ITS) regions. The nrDNA-ITS regions of ITS1, 5.8S nrDNA, and ITS2 from Z. japonica, Z. sinica, Agrostis stolonifera, and Poa pratensis were DNA barcoded to classify these grasses according to their molecular identities. The nrDNA-ITS sequences of these species were found at 686 bp, 687 bp, 683 bp, and 681 bp, respectively. The size of ITS1 ranged from 248 to 249 bp, while ITS2 ranged from 270 to 274 bp. The 5.8S coding region ranged from 163 - 164bp. Between Z. japonica and Z. sinica, nineteen (2.8%) nucleotide sites were variable, and the G+C content of the ITS region ranged from 55.4 to 63.3%. Substitutions and insert/deletion (indel) sites in the nrDNA-ITS sequence of Z. japonica and Z. sinica were converted to cleaved amplified polymorphic sequence (CAPS) markers, and applied to the Zoysia grasses sampled to verify the presence of these markers. Among the 62 control and collected grass samples, we classified three groups: 36 Z. japonica, 22 Z. sinica, and 4 Z. japonica/Z. sinica hybrids. Morphological classification revealed only two groups; Z. japonica and Z. sinica. Our results suggest that used of the nrDNA-ITS barcode region and CAPS markers can be used to distinguish between Z. japonica and Z. sinica at the species level.

Studies on the Biological Effects of Chemosterilant, Hempa, on the Rice Weevil (Sitophilus oryzae 1.) and Transmission of Sterility (화학적 불임유기물질 Hempa가 쌀바구미(Sitophilus oryzae L.)에 미치는 생물학적 영향 및 불임성의 전달에 관한 연구)

  • Shim Jai Wook
    • Korean journal of applied entomology
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    • v.12 no.1
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    • pp.1-21
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    • 1973
  • Some experiments were conducted to investigate the effects of the chemosterilant, hempa, on the biology of the rice weevil, Sitophilus oryzae L., and the transmission of the lethal factors in the progeny. One to three days old adult males were fed on the wheat grains treated with concentrations of 0.0625, 0.125, 0.25, and $0.5\%$ of hempa water solution. The effects of the treatment on the mortality, longevity, and the performance of oviposition were examined for the Pl generation, and the hatchability and mortality in the postembryonic development were also tested in the $F_1,\;F_2,\;BC_1,\;F_3,\;and\;BC_2$ generations to analyze the inheritance of the lethal factors. The results obtained were summarized as follows. (1) The average longevity of the treated males were ranged from 26.6 to 30.4 days, and indicated no statistical differences. (2) The mortality of the treated males were ranged between $3.3\%\;and\;13.3\%$ and showed no statistical significance. (3) The overall mean number of eggs laid by a female mated to a treated male with concentrations of 0.0625, 0.125, 0.26 and $0.5\%$ were 3.78, 4.05, 3.75 and 3.61 for the respective treatments, and they were not differ significantly from those of control which were 3.60 per female per 3 day period. The unmated female laid 1.91 in the same period, and significantly differ from those in other experimental groups. (4) The overall mean hatchability of the eggs laid by the females mated with males that had been treated with various concentrations of hempa were 86.82, 64.77, 53.47, 40.33 and $24.78\%$ for the respective concentrations of 0, 0.0625, 0.125, 0.25 and $0.5\%$. The hatchability decreased with the increasing concentrations. (5) The minimum hatchabilities were obtained from the eggs laid in the period of 10-12 days after treatment, then the hatchability increased showing some recovery. The recovery seemed to be very much delayed for the males which had been treated with the greater concentrations. Such a difference in hatchability might be related with the sensitivity of the developmental stages of the sperms, and broader spectrum in the stages and severer effects seemed to be associated with the increased concentrations. (6) The overall mean of larval mortality in the $F_l$ generation were 6.55, 17.89, 27.40, 35.42 and $52.17\%$ for the respective concentrations of 0,0.0625, 0.125,0.25 and $0.5\%$. And there was a tendency to increase in the mortality with the increase of concentrations. (7) The correlation coefficients between per cent sterile eggs and larval mortality for the experimental plots of 0.125, 0.25 and $0.5\%$ treatments showed r=+0.83 and +0.85, respectively, and it seemed to be close correlation between the lethal effects on the embryonic and post-embryonic developments. (8) Since the $SC_{50}$ of the sterile eggs was $0.133\%$ and $SC_{50}$ of the larval mortality was $0.565\%$, it was considered that tile lethal factors expressed more in the egg stages than the larval stages. (9) The ratio of female to male in the $F_l$ adults showed 100 : 125, 100 : 108 and 100 : 124 for the plots of 0.125, 0.25 and $0.5\%$ treatments, respectively. And it n·as considered that the sex ratio distortions might occur with the higher concentrations. (10) When the F, males originated 1.on the eggs had been laid by p, in the period of 16-18 days after treatment, were crossed to normal females $(BC_1)$ and made sib matings $(F_2)$, the per cent sterile eggs of the $BC_1$ generation were 13.88 and $33.04\%$ , and were 31.01 and $38.73\%$ for the $F_2$generation with the plots of 0.0625 and $0.125\%$ treatment, respectively. And these seemed to be a results of the $F_1$ individuals are carrying some chromosomal aberrations (11) The larval mortality was the highest in the $F_2$ plot and followed the female backcross plot, and the least in the male backcrosses. (12) The proportions of 1st and 2nd instar larvae among the larval development at tile 17th day after oviposition were 10.98, 27.26, 32.98 and $15.73\%$ in the normal female $\times$ normal male, $F_1$ female$\times$normal male, normal $female \;\times F_1$ male and $female \;\times F_1$ male plots, respectively. It was considered that the larval development might be delayed by the treatment in the 2nd generation. (13) Per cent larval mortality and sterile eggs were greater in the $F_2$ sib mating plots $(F_3)$ than both of $F_2$ backcrosses. Therefore, it seemed that some of the recessive lethal mutations might affect in the further generations. (14) The sterility, induced by the treatment of chemosterilant, hempa, was considered as the result of the dominant lethal mutations due to chromosomal aberrations such as translocation and/or deletion. The effects of these lethal factors seemed to be inherited tip to 3rd generation after treatment.

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Angiotensin-converting Enzyme Gene Polymorphism and Cerebrovascular Disease in Korean population (한국인의 ACE(Angiotensin-converting Enzyme) 유전자의 다형성과 뇌혈관 질환과의 관계에 대한 연구)

  • Lee Jin Woo;Lee Kyung Jin;Rho Sam Woong;Kim Jae Jong;Bae Hyung Sup;Hong Moo Chang;Shin Min Kyu;Kim Young Suk;Bae Hyun Su
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.16 no.4
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    • pp.724-728
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    • 2002
  • Angiotensin-converting enzyme (ACE) gene polymorphism, which consists of presence (insertion, I) or absence (deletion, D) of a 250-bp fragment, is associated with ischemic heart disease, renovascular disease, systemic lupus erythematosus. Subjects with the DD genotype have higher levels of circulating ACE than subjects with the II genotype and show an increased tendency towards vascular wall thickness and contribute to the development of vascular disease. But the association between I/D polymorphism of the ACE gene and cerebrovascular disease is still controversial. The aim of this study was to determine whether the DNA polymorphism of the ACE are associated with cerebrovascular disease in Korean population. The study group comprised 377 Korean patients admitted to Kyunghee Oriental Medical Center in the year of 2000 for the treatment of brain infarction or brain hemorrhage. Magnetic resonance imaging(MRI) was performed for each patient to determine the stroke phenotype, infarction or hemorrhage. The 183 subjects without evidence of brain infarction or brain hemorrhage were selected from the some ethnical population(control group). Venous blood samples were drawn from each subject for the extraction of DNA. Genotypes of ACE were determined by polymerase chain reaction amplification of the genomic DNA. Case and control genotype frequencies were compared by chi-square testing. Both the patients and the controls were classified respectively into 4 groups: age less than forty years, age forty one to fifty, age fifty one to sixty, age greater than sixty years. There were no significant differences in the distributions of ACE genotypes among the patients with infarction, with hemorrhage and controls (Infarction: D/D 15.8%, I/D 46.7%, I/I 37.5%, Hemorrhage: D/D 15.1%, I/D 46.5%, I/I 38.4%, Control: D/D 18.6%, I/D 50.3%, I/I 31.2%). There was a significant difference in the distribution of ACE genotypes between the age greater than sixty year subgroup of patient with brain hemorrhage and the control (Hemorrhage: D/D 0%, I/D 55.6%, I/I 44.4%, Control: D/D 13.0%, I/D 63.0%, I/I 23.9%; Pearson Chi-Square value 5.956, P<0.05). Furthermore, the frequency of the ACE D/D type declined with increasing age both in the patient and control group (Patient group: age < 50 D/D 21.5%, age > 50 D/D 14.42%; Control group: age < 50 D/D 21.0%, age > 50 D/D 14.2%). In conclusion there is no clear association between ACE polymorphism and cerebrovascular disease in Korean population. Although, there was a tendency for the frequency of the ACE D/D type declined with increasing age in both patients and controls.