• 한국자원식물학회:학술대회논문집
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• 한국자원식물학회 2002년도 제9차 국제심포지움 및 추계정기학술발표회
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• pp.54-54
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• 2002

The nucleotide sequence of a Korea isolate of broad bean wilt favavirus from Rehmannia glutinosa Lib., designated BBWV-RE, was determined. Direct amino acid sequencing of the virus coat proteins suggests that a comparison of several favaviruses in terms of nucleotide sequence and amino acid sequences showed that BBWV-2 isolates display high sequence identity. The small coat protein genes of RNA-2 were also determined for three other Japanese isolates(E, L, and 1-2) and two ATCC isolates(PV132 and PV176) of BBWV. the CP sequence suggested distinct evolution lineages. Serotype 2 favaviruses are more prevalent in Asia, Australia and North America, Wheres serotype 1 is more prevalent in europe.(중략)

• 한국원자력학회:학술대회논문집
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• 한국원자력학회 1996년도 춘계학술발표회논문집(4)
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• pp.40-45
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• 1996

사람 T-임파구에서 방사선 독성물질인 감마선과 화학적 독성물질인 PCP(pentachlorophenol)의 돌연변이 효과를 hprt (hypoxanthine phosphoribosyl transferase) 유전자의 돌연변이빈도로써 측정하였다. 감마선은 $^{137}$Cs원을 사용하여, 0 - 300 rads의 양으로 세포의 초기배양 시기에 조사하였으며, PCP는 역시 세포의 초기배양시 최종농도 0-100 ppm으로 24시간 투여 하였다. 양 돌연변이원은 hprt유전자를 돌연변이 시키어, 300rads의 조사는 대조군에 비하여 약 7.5배의 돌연변이빈도의 증가를 나타내었고, PCP 500 ppm의 처리는 대조군에 비하여 약 5배의 돌연변이빈도 증가를 나타내었다. 본 실험에 사용된 상이한 두 돌연변이원은 모두 비교적 정확한 용량-반응 관계를 보였으나, 환경독성물질들의 혼합효과에서 돌연변이원을 정성하기위하여 개선된 T-cell hprt clonal assay, 즉 reverse transcriptase/polymerase chain reaction 및 direct sequencing에 의한 mutational spectrum의 적용이 요구되었다.

• BMB Reports
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• 제37권2호
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• pp.144-147
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• 2004

Molecular amplification and sequencing of genomic DNA that encodes camel polyubiquitin (PUBC1) was performed by a polymerase chain reaction (PCR) using various sets of primers. The amplification generated a number of DNA fragments, which were sequenced and compared with the polyubiquitin coding sequences of various species. One DNA fragment that conformed to 325 bp was found to be 95 and 88% homologous to the sequences of human polyubiquitin B and C, respectively. The DNA translated into 108 amino acids that corresponded to two fused units of ubiquitin with no intervening sequence, which indicates that it is a polyubiquitin and contains at least two units of ubiquitin. Although, variations were found in the nucleotide sequence when compared to those of other species, the amino acid sequence was 100% homologous to the polyubiquitin sequences of humans, mice, and rats. This is the first report of the polyubiquitin DNA coding sequence and its corresponding amino acid sequence from camels, amplified using direct genomic DNA preparations.

• 한국어병학회지
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• 제23권3호
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• pp.421-427
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• 2010

Anisakid nematodes third stage larvae were isolated from the muscles of masou salmon (Oncorhynchus masou). Fish were purchased from Jumunjin fishery market in Gangneung. Four Anisakid third stage larvae were isolated from 4 fish. Molecular identification of the isolated worms was conducted by PCR-RFLP analysis of ribosomal DNA internal transcribed spacer region and direct sequencing of mitochondrial DNA cox2 gene. As results, all the tested individual worms were identified as Anisakis simplex (sensu stricto). This is the first report of molecular detection of anisakid worms in salmonid fishes in Korea.

• Journal of Genetic Medicine
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• 제19권1호
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• pp.38-41
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• 2022

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disease caused by mutations in the neurogenic locus notch homolog protein 3 (NOTCH3) gene. The spectrum of clinical manifestations is broad, ranging from asymptomatic to typical ischemic stroke, and mainly depends on the location of the mutations. We describe the case of a 76-year-old female without apparent neurological deficits. However, brain magnetic resonance imaging revealed confluent lesions in the white matter. Direct sequencing of the NOTCH3 gene revealed a novel pathogenic mutation, c.811T>A, which results in a mild phenotype. Therefore, this report will expand the current knowledge in regards to the mutations that can cause CADASIL.

• Clinical and Experimental Reproductive Medicine
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• 제51권2호
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• pp.91-101
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• 2024

Infertility is a complex disease characterized by extreme genetic heterogeneity, compounded by various environmental factors. While there are exceptions, individual genetic and genomic variations related to infertility are typically rare, often family-specific, and may serve as susceptibility factors rather than direct causes of the disease. Consequently, identifying the cause of infertility and developing prevention and treatment strategies based on these factors remain challenging tasks, even in the modern genomic era. In this review, we first examine the genetic and genomic variations associated with infertility, and subsequently summarize the concepts and methods of preimplantation genetic testing in light of advances in genome analysis technology.

• Molecules and Cells
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• 제44권10호
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• pp.723-735
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• 2021

Spemann organizer is a center of dorsal mesoderm and itself retains the mesoderm character, but it has a stimulatory role for neighboring ectoderm cells in becoming neuroectoderm in gastrula embryos. Goosecoid (Gsc) overexpression in ventral region promotes secondary axis formation including neural tissues, but the role of gsc in neural specification could be indirect. We examined the neural inhibitory and stimulatory roles of gsc in the same cell and neighboring cells contexts. In the animal cap explant system, Gsc overexpression inhibited expression of neural specific genes including foxd4l1.1, zic3, ncam, and neurod. Genome-wide chromatin immunoprecipitation sequencing (ChIP-seq) and promoter analysis of early neural genes of foxd4l1.1 and zic3 were performed to show that the neural inhibitory mode of gsc was direct. Site-directed mutagenesis and serially deleted construct studies of foxd4l1.1 promoter revealed that Gsc directly binds within the foxd4l1.1 promoter to repress its expression. Conjugation assay of animal cap explants was also performed to demonstrate an indirect neural stimulatory role for gsc. The genes for secretory molecules, Chordin and Noggin, were up-regulated in gsc injected cells with the neural fate only achieved in gsc uninjected neighboring cells. These experiments suggested that gsc regulates neuroectoderm formation negatively when expressed in the same cell and positively in neighboring cells via soluble factors. One is a direct suppressive circuit of neural genes in gsc expressing mesoderm cells and the other is an indirect stimulatory circuit for neurogenesis in neighboring ectoderm cells via secreted BMP antagonizers.

• 대한환경공학회지
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• 제22권5호
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• pp.861-867
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• 2000

무산소 조건에서의 인섭취를 이용한 질소, 인 화합물의 동시 제거 가능성을 연속회분식반응기(SBR)를 사용하여 고찰하였다. 혐기-호기상의 AO SBR 반응기에 점차적으로 무산소상을 도입함으로써 질산염을 전자수용체로 사용하여 탈질이 가능한 인섭취 미생물들(DPAOs)을 다량으로 축적하였다.(혐기-호기-무산소-호기상의 $(AO)_2$ SBR). 무산소상과 호기상에서의 인섭취율을 비교해 보았을 때, 전체 인제거 미생물 내에서 DPAOs의 비율이 약 10%에서 64%까지 증가하였다. $(AO)_2$ SBR은 안정된 질소, 인제거 성능을 보였으며, 유기물질, 질소, 인 화합물의 제거율은 각각 92%, 88%, 100%였다. $(AO)_2$ SBR의 운전결과와 회분식 실험으로 부터 아질산염은 무산소상에서의 인제거 반응에 어떠한 악영향도 미치지 않으며, 오히려 질산염과 함께 전자 수용체로 사용되어짐을 알 수 있었다.

• Asian Pacific Journal of Cancer Prevention
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• 제15권3호
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• pp.1247-1253
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• 2014

Mutations in the DNMT3A and IDH genes represent the most common genetic alteration after FLT3/NPM1 in acute myeloid leukemia (AML). We here analyzed the frequency and distribution pattern of DNMT3A and IDH mutations and their associations with other molecular markers in normal karyotype AML patients. Fortyfive patients were screened for mutations in DNMT3A (R882), IDH1 (R132) and IDH2 (R140 and R172) genes by direct sequencing. Of the 45 patients screened, DNMT3A and IDH mutations were observed in 6 (13.3%) and 7 (15.4%), respectively. Patients with isolated DNMT3A mutations were seen in 4 cases (9%), isolated IDH mutations in 5 (11.1%), while interestingly, two cases showed both DNMT3A and IDH mutations (4.3%). Nucleotide sequencing of DNMT3A revealed missense mutations (R882H and R882C), while that of IDH revealed R172K, R140Q, R132H and R132S. Both DNMT3A and IDH mutations were observed only in adults, with a higher frequency in males. DNMT3A and IDH mutations were significantly associated with NPM1, while trends towards higher coexistence with FLT3 mutations were observed. This is the first study to evaluate DNMT3A/IDH mutations in Indian patients. Significant associations among the various molecular markers was observed, that highlights cooperation between them and possible roles in improved risk stratification.

• Asian Pacific Journal of Cancer Prevention
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• 제14권11호
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• pp.6803-6806
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• 2013

Background: Interferon regulatory factor 6 (IRF6) is a transcription factor with distinct and conserved DNA and protein binding domains. Mutations within the protein binding domain have been significantly observed in subjects with orofacial cleft relative to healthy controls. In addition, recent studies have identified loss of expression of IRF6 due to promoter hypermethylation in cutaneous squamous cell carcinomas. Since mutational events occurring within the conserved domains are likely to affect the function of a protein, we investigated whether regions within the IRF6 gene that encodes for the conserved protein binding domain carried mutations in oral squamous cell carcinoma (OSCC). Materials and Methods: Total chromosomal DNA extracted from 32 post surgical OSCC tissue samples were amplified using intronic primers flanking the exon 7 of IRF6 gene, which encodes for the major region of protein binding domain. The PCR amplicons from all the samples were subsequently resolved in a 1.2% agarose gel, purified and subjected to direct sequencing to screen for mutations. Results: Sequencing analysis resulted in the identification of a mutation within exon 7 of IRF6 that occurred in heterozygous condition in 9% (3/32) of OSCC samples. The wild type codon TTC at position 252 coding for phenylalanine was found to be mutated to TAC that coded for tyrosine (F252Y). Conclusions: The present study identified for the first time a novel mutation within the conserved protein binding domain of IRF6 gene in tissue samples of subjects with OSCC.