• 한국작물학회:학술대회논문집
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• 한국작물학회 2017년도 9th Asian Crop Science Association conference
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• pp.174-174
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• 2017

To cope with phosphate (Pi) deficient stress, plants modulate various physiological and developmental processes, such as gene expression, Pi uptake and translocation, and root architecture changes. Here, we report the identification and characterization of novel activation-tagged mutant involved in Pi starvation signaling in Arabidopsis. The hpd (${\underline{h}ypersensitive}$ to ${\underline{P}i}$ $ {\underline{d}eficiency}$) mutant exhibits enhanced phosphate uptake and altered root architectural change under Pi starvation compared to wild type. Expression analysis of auxin-responsive DR5::GUS reporter gene in hpd mutant indicated that auxin translocation in roots under Pi starvation are suppressed in hpd mutant plants. Impaired auxin translocation in roots of hpd mutant was attributable to abnormal root architecture changes in Pi starvation conditions. Our results indicated that abnormal auxin translocation in hpd mutant might be due to mis-regulation of auxin efflux carrier proteins, PIN-FORMED (PIN) 1, and 2 under Pi starvation conditions. Not only expression levels but also expression domains of PIN proteins were altered in hpd mutant in response to Pi starvation. Molecular genetic analysis of hpd mutant revealed that the mutant phenotype is caused by the lesion in ENHANCED SILENCING PHENOTYPE4 (ESP4) gene whose function is proposed in mRNA 3'-end processing. The results suggest that mRNA processing plays crucial roles in Pi homeostasis as well as developmental reprograming in response to Pi deprivation in Arabidopsis.

• 미생물과산업
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• 제17권1호
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• pp.10-18
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• 1991

A phylogenetic comparison of homologous protein can often supplement genetic and biochemical analysis by revealing conserved structures that are critical for function(Waugh et al., 1989). I therefore isolated a secY homologue from B. subtilis, a gram positive bacterium evolutionary distant from E. coli. The comparison and interplay between these two bacterial systems should contribute greatly to our understanding of the functions and interactions within systems evolved for protein translocation in both prokaryotic and eukaryotic organisms.

• Clinical and Experimental Reproductive Medicine
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• 제29권4호
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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.

• 식물분류학회지
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• 제49권4호
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• pp.275-281
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• 2019

One key step in the plant restoration process is the collection of seeds from the field. For the selection of source populations of target plant species for translocation purposes (reintroduction or reinforcements), several approaches are possible. A practical method involves the use of data from reciprocal transplant studies. If no direct data are available, knowledge of population genetics and the phylogeography of the target species can serve as an alternative. In this short review, we briefly propose guidelines for those collecting seeds for plant species restoration based on population genetics theory, focusing on two main questions: Where does the plant material come from and how are sources designated, and how are seeds efficiently collected from local populations? While genetic data on a larger scale (phylogeography and population genetics) are needed to form a reply to the first question, similar data on a smaller scale (fine-scale genetic structures within populations) are necessary to shed light on the second issue.

• Journal of Genetic Medicine
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• 제2권1호
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• pp.11-15
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• 1998

This paper reports 3 cases with 46,XX sex reversed male. Three 46,XX hypogonadal subjects showed complete sex reversal and had normal phallus and azoospermia. We studied them under clinical, cytogenetic and molecular aspects to find out the origin of the sex reversal. Patients had markedly elevated serum follicle-stimulating hormone (FSH) and lutenizing hormone (LH) and decreased or normal range of serum testosterone. The testicular volumes were small (3-8ml). Testicular biopsy showed Leydig cell hyperplasia and atrophy of seminiferous tubules. We obtained the results of normal 46,XX, and the presence of Y chromosome mosaicism was ruled out through XY dual fluorescent in situ hybridization (FISH). By using polymerase chain reaction (PCR), we amplified short arm (SRY, PABY, ZFY and DYS14), centromere (DYZ3), and heterochromatin (DYZ1) region of the Y chromosome. PCR amplification of DNA from these patients showed the presence of the sex-determining region of the Y chromosome (SRY) but didn't show the centromere and heterochromatin region sequence. The SRY gene was detected in all the three patients. Amplification patterns of the other regions were different in these patients; one had four amplified loci (PABY+, SRY+, ZFY+, DYS14+), another had two loci (SRY+, ZFY+) and the other had two loci (PABY+, SRY+). We have found that each patient's translocation elements had different breakpoints at upstream and downstream of the SRY gene region. We conclude that the testicular development in 46,XX male patients were due to insertion or translocation of SRY gene into X chromosome or autosomes.

• Journal of Genetic Medicine
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• 제19권1호
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• pp.14-21
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• 2022

Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient's karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

• The Korean Journal of Physiology and Pharmacology
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• 제21권3호
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• pp.345-352
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• 2017

Since previous studies have reported that hydroquinone (HQ) exerted immunosuppressive and anti-inflammatory activity, various HQ derivatives have been synthesized and their biological activities investigated. In this study, we explored the anti-inflammatory activity of JS-III-49, a novel HQ derivative, in macrophage-mediated inflammatory responses. JS-III-49 suppressed the production of the inflammatory mediators nitric oxide (NO) and prostaglandin $E_2$ ($PGE_2$) and down-regulated the mRNA expression of the inflammatory enzymes cyclooxygenase-2 (COX-2) and inducible nitric oxide synthase (iNOS) as well as the expression of the pro-inflammatory cytokines interleukin-6 (IL-6) and IL-$1{\beta}$ without cytotoxicity in LPS-stimulated RAW264.7 cells. JS-III-49 inhibited nuclear translocation of the $NF-{\kappa}B$ transcription factors p65 and p50 by directly targeting Akt, an upstream kinase of the $NF-{\kappa}B$ pathway, in LPS-stimulated RAW264.7 cells. However, JS-III-49 did not directly inhibit the kinase activities of Src and Syk, which are upstream kinases of Akt, in LPS-stimulated RAW264.7 cells. Moreover, JS-III-49 suppressed the nuclear translocation of c-Fos, one of the components of AP-1, by specifically targeting p38, an upstream mitogen-activated protein kinase (MAPK) in the AP-1 pathway in LPS-stimulated RAW264.7 cells. These results suggest that JS-III-49 plays an anti-inflammatory role in LPS-stimulated macrophages by targeting Akt and p38 in the $NF-{\kappa}B$ and AP-1 pathways, respectively.

• Journal of Plant Biotechnology
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• 제3권3호
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• pp.151-157
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• 2001

In order to breed barley lines with reduced viscosity of wort, a fractured starch mutant of naked barley cultivar, Nubet, was obtained from the M2 seeds mutated by the diethyl sulfate treatment. Seeds of this fractured starch mutant were opaque and the endosperm consists of angular, irregular and fractured starch. The mutant was caused by single recessive mutation and assigned by the symbol fra. The gene was located on chromosome 4, distal in long arm by linkage recombinations using translocation homozygote lethal test set. The linkage value between the fractured starch mutant and 72-4a, 72-4d were 26.0$\pm$4.9, 34.2$\pm$3.1 percent respectively. In addition to the reduced seed size, fewer kernels per spike and higher tillering ability, lower $\beta$-glucan viscosity and higher lysine content of the grain were associated with this mutant. $\beta$-glucan viscosity of the Nubet grains increased from 3 weeks after anthesis to matury and most of the viscose substances appeared to be stored in the middle of the endosperm tissue. Since the mutant grains showed better milling property as compared to Nubet, it can be used as breeding resources to develope new barley cultivars for maltins and milling purpose.

• 한국환경성돌연변이발암원학회지
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• 제22권2호
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• pp.90-96
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• 2002

Benzene is a widespread human carcinogen, inducing leukemia and hematotoxicity. Exposure to benzene metabolites has been shown to cause genetic damage, including aneusomy and chromosome aberrations. Fluorescence in situ hybridization(FISH) procedure was used to determine if the benzene metabolite, 1, 2, 4-benzenetriol(BT), hydroquinone(HQ) and trans, trans-muconic acid(t,t-MA) induced specific chromosomal change in HL-60 cells. Treatment with BT, HQ and t,t-MA resulted in the induction of monosomy 8 and 21 in HL-60 cells in a dose-dependent manner. All of these metabolites also induced trisomy 8 and 21, but no correlation between frequencies of trisomy and concentration was found. Translocations between chromosome 8 and another unidentified chromosome ［t(8:\ulcorner)］, and between chromosome 21 and another unidentified chromosome ［t(8:21)］ were found. However, translocation between chromosome 8 and 21 ［t(8:21)］ was not found. Results indicate that the benzene metabolites, BT, HQ and t,t-MA, induce chromosome specific numerical and structural aberrations, and the fluorescence in situ hybridization (FISH) approach may be a useful and powerful technique for detection of aneuploidy.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2017년도 9th Asian Crop Science Association conference
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• pp.166-166
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• 2017

OsTAT encodes a twin-arginine translocator (TAT) pathway signal protein. It contains a TRANS membrane domain and a chloroplast transit peptide. mRNA transcription profiling of OsTAT1 revealed that it is highly overexpressed in the leaves corroborating reports on its role in chloroplast. Moreover, its level of expression is more pronounced during earlier stages (germination, 3-leaf stage, and maximum tillering) of growth in rice. A lower disease progress curve of bacterial blight is evident in transgenic lines compared with the wild type, Dongjin indicating its involvement in immunity to Xoo. Expression pattern following infection of Xoo strain K2 depicts highest levels at 4 and 8 hour post-inoculation which implies crucial induction of resistance during early response. This study initially reports a new overview on the biological functions of plant's TAT pathway. Further molecular and genetic analyses are underway to provide detailed involvement of OsTAT in disease resistance.