• Asian Pacific Journal of Cancer Prevention
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• 제13권1호
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• pp.41-48
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• 2012

Introduction: Breast cancer is the second leading cancer in Korean women. To assess potential genetic associations between the prostate stem cell antigen (PSCA) gene in the chromosome 8q24 locus and breast cancer risk in Korean women, 13 SNPs were selected and associations with breast cancer risk were analyzed with reference to hormone receptor (HR) and menopausal status. Methods:We analyzed DNA extracted from buffy coat from 456 patients and 461 control samples, using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) based upon region-specific PCR followed by allelespecific single base primer extension reactions. Risks associated with PSCA genotypes and haplotypes were estimated with chi-square test (${\chi}^2$-test), and polytomous logistic regression models using odds ratios (OR) and 95% confidence intervals (CIs), by HR and menopausal status. Results: In case-control analysis, odds ratios (OR) of rs2294009, rs2294008, rs2978981, rs2920298, rs2976395, and rs2976396 were statistically significant only among women with estrogen receptor (ER) negative cancers, and those of rs2294008, rs2978981, rs2294010, rs2920298, rs2976394, rs10216533, and rs2976396 were statistically significant only in pre-menopausal women, and not in postmenopausal women. Risk with the TTGGCAA haplotype was significantly elevated in ER (-) status (OR= 1.48, 95% CI= 1.03~2.12, p<0.05). Especially risk of allele T of rs2294008 is significantly low in pre-menopausal breast cancer patients and AA genotype of rs2976395 in ER (-) status represents the increase of OR value. Conclusion: This report indicated for the first time that associations exist between PSCA SNPs and breast cancer susceptibility in Korean women, particularly those who are pre-menopausal with an estrogen receptor negative tumor status.

• 대한의생명과학회지
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• 제27권3호
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• pp.177-181
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• 2021

Allergy is an immune response that appears in certain people, and reactions such as coughing, shortness of breath, and hives occur. The immune system plays an important role in homeostasis and host defense, and allergies cause hypersensitivity reactions when an imbalance of immunity occurs. Mutations in the TLR genes are associated with autoimmune conditions such as allergies and asthma. It has been reported that a locus in the TLR1-TLR6-TLR10 region may be associated with atopic sensitization or allergy. Therefore, the purpose of this study was to select an allergy patient group and a healthy control group to determine how the genetic mutation of TLR1 affects the onset of disease. This study was conducted in 709 patients and 5,025 control groups out of 10,956 patients with data from KARE and HEXA cohorts. As a result of logistic regression analysis of 6 SNPs selected from the TLR1 gene, only rs117033348 showed a statistically significant correlation (P = 0.002356). The influence of rs117033348 was examined using PolyPhen-2, and a significant result was shown. Therefore, it can be predicted that the G base in rs117033348 will have an influence on the human body. In addition, Geography of Genetic Variants browser was used to confirm the geographical distribution of allele frequencies for the TLR1 gene. Although it was found that there was a large racial difference in the prevalence of TLR1 SNP, it could be confirmed that the polymorphism of rs117033348 conducted in this study was only specific in East Asia when compared with each race.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2017년도 9th Asian Crop Science Association conference
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• pp.21-21
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• 2017

Severe lodging has recurrently occurred at strong typhoon's hitting in recent climate change. The identification of quantitative trait loci (QTLs) and their responsible genes associated with a strong culm and their pyramiding are important for developing high-yielding varieties with a superior lodging resistance. To identify QTLs for lodging resistance, the tropical japonica line, Chugoku 117 and the improved indica variety, Habataki were selected as the donor parent, as these had thick and strong culms compared with the temperate japonica varieties in Japan such as Koshihikari. By using chromosome segment substitution lines (CSSLs) in which chromosome segments from the japonica variety were replaced to them from Habataki, we identified the QTLs for strong culm on chrs. 1 and 6, which were designated as STRONG CULM1 (SCM1) and STRONG CULM2 (SCM2), respectively. By using recombinant inbred lines (BILs) derived from a cross between Chugoku 117 and Koshihikari and introgression lines, we also identified the other QTLs for strong culm on chrs. 3 and 2, which were designated as STRONG CULM3 (SCM3) and STRONG CULM4 (SCM4), respectively. Candidate region of SCM1 includes Gn1 related to grain number. SCM2 was identical to APO1, a gene related to the control of panicle branch number, and SCM3 was identical to FC1, a strigolactone signaling associated gene, by performing fine mapping and positional cloning of these genes. To evaluate the effects of SCM1~SCM4 on lodging resistance, the Koshihiakri near isogenic line (NIL) with the introgressed SCM1 or SCM2 locus of Habataki (NIL-SCM1, NIL-SCM2) and the another Koshihikari NIL with the introgeressed SCM3 or SCM4 locus of Chugoku 117 (NIL-SCM3, NIL-SCM4) were developed. Then, we developed the pyramiding lines with double or triple combinations derived from step-by-step crosses among NIL-SCM1 NIL-SCM4. Triple pyramiding lines (NIL-SCM1+2+3, ~ NIL-SCM1+3+4) showed the largest culm diameter and the highest culm strength among the combinations and increased spikelet number due to the pleiotropic effects of these genes. Pyramiding of strong culm genes resulted in much increased culm thickness, culm strength and spikelet number due to their additive effect. SCM1 mainly contributed to enhance their pyramiding effect. These results in this study suggest the importance of identifying the combinations of superior alleles of strong culm genes among natural variation and pyramiding these genes for improving high-yielding varieties with a superior lodging resistance.

• 한국어류학회지
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• 제32권2호
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• pp.39-48
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• 2020

가는돌고기(Pseudopungtungia tenuicorpa)는 8~10 cm 크기의 소형 잉어과 어류로 전 세계에서 한국의 한강 그리고 임진강에만 서식하는 멸종위기종이다. 가는돌고기는 국내 담수의 상위 포식자 중 하나인 꺽지 수컷이 돌보는 수정된 알이 있는 둥지에 탁란(brood parasitism)을 하거나 작은 바위에 생긴 틈에 산란을 하는 생식 행동을 보인다. 이 종의 특이한 생식 생태는 환경 파괴가 극심한 현대 사회에서 산란 장소를 더욱 제한할 가능성이 높아 특별한 관리와 보전 전략이 필요하다. 본 연구에서는 microsatellites와 mtDNA control region 유전자를 이용하여 가는돌고기의 종 보전 관리 전략에 필요한 개체군 수준의 유전적 다양성 등 기초자료를 확보하고자 하였다. 유전체 분석에서 얻어진 28개의 microsatellite 유전자들을 이용하여 한강의 3지역에서 채집된 67개체들의 유전자형을 밝혔다. 본 microsatellite 유전자 분석 결과, 가는돌고기는 일반적으로 알려진 담수어류의 microsatellite 다양성 정도를 훨씬 뛰어 넘는 높은 유전적 다양성을 보여주었고(평균 이형접합자 빈도 예측치=0.914; 유전자 당 평균 대립 인자 빈도=27.9), 개체군 감소나 inbreeding의 흔적은 나타나지 않았다. 그러나 북한강과 남한강 사이의 유전적 분화가 두드러졌다. 이런 유전적 구조는 14개 haplotype이 발견된 mtDNA 분석 결과에서도 유사하게 나타났다. 매우 좁은 지역에 서식하는 고유 멸종위기종에서 유전자 흐름의 제한 가능성이 나타났기 때문에, 장기적 측면에서 개체군들의 크기에 대한 고민이 필요하다. 추후 적응 유전적 분석 결과에서도 유사한 결과가 나타난다면, 북한강과 남한강 개체군들은 별도 관리가 이루어져야 하며, 복원 계획에도 이러한 유전적 구조에 대한 검토가 수반되어야 할 것이다.

• Animal Bioscience
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• 제37권7호
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• pp.1168-1176
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• 2024

Objective: As a charismatic species, cashmere goats have rich genetic resources. In the Inner Mongolia Autonomous Region, there are three cashmere goat varieties named and approved by the state. These goats are renowned for their high cashmere production and superior cashmere quality. Therefore, it is vitally important to protect their genetic resources as they will serve as breeding material for developing new varieties in the future. Methods: Three breeds including Inner Mongolia cashmere goats (IMCG), Hanshan White cashmere goats (HS), and Ujimqin white cashmere goats (WZMQ) were studied. IMCG were of three types: Aerbas (AEBS), Erlangshan (ELS), and Alashan (ALS). Nine DNA samples were collected for each population, and they were genomically re-sequenced to obtain high-depth data. The genetic diversity parameters of each population were estimated to determine selection intensity. Principal component analysis, phylogenetic tree construction and genetic differentiation parameter estimation were performed to determine genetic relationships among populations. Results: Samples from the 45 individuals from the five goat populations were sequenced, and 30,601,671 raw single nucleotide polymorphisms (SNPs) obtained. Then, variant calling was conducted using the reference genome, and 17,214,526 SNPs were retained after quality control. Individual sequencing depth of individuals ranged from 21.13× to 46.18×, with an average of 28.5×. In the AEBS, locus polymorphism (79.28) and expected heterozygosity (0.2554) proportions were the lowest, and the homologous consistency ratio (0.1021) and average inbreeding coefficient (0.1348) were the highest, indicating that this population had strong selection intensity. Conversely, ALS and WZMQ selection intensity was relatively low. Genetic distance between HS and the other four populations was relatively high, and genetic exchange existed among the other four populations. Conclusion: The Inner Mongolia cashmere goat (AEBS type) population has a relatively high selection intensity and a low genetic diversity. The IMCG (ALS type) and WZMQ populations had relatively low selection intensity and high genetic diversity. The genetic distance between HS and the other four populations was relatively high, with a moderate degree of differentiation. Overall, these genetic variations provide a solid foundation for resource identification of Inner Mongolia Autonomous Region cashmere goats in the future.

• Journal of Microbiology and Biotechnology
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• 제20권1호
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• pp.45-53
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• 2010

We have developed an efficient and precise method for genome manipulations in Bacillus subtilis that allows rapid alteration of a gene sequence or multiple gene sequences without altering the chromosome in any other way. In our approach, the Escherichia coli toxin gene mazF, which was used as a counter-selectable marker, was placed under the control of a xylose-inducible expression system and associated with an antibiotic resistance gene to create a "mazF-cassette". A polymerase chain reaction (PCR)-generated fragment, consisting of two homology regions joined to the mazF-cassette, was integrated into the chromosome at the target locus by homologous recombination, using positive selection for antibiotic resistance. Then, the excision of the mazF-cassette from the chromosome by a single-crossover event between two short directly repeated (DR) sequences, included in the design of the PCR products, was achieved by counter-selection of mazF. We used this method efficiently and precisely to deliver a point mutation, to inactivate a specific gene, to delete a large genomic region, and to generate the in-frame deletion with minimal polar effects in the same background.

• Journal of Plant Biotechnology
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• 제1권1호
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• pp.46-55
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• 1999

The expressed sequence tags(ESTs) from immature seed of rice, Oryza sativa cv Milyang 23, were partially sequenced and analyzed by homology. As of 1998, the partial sequences of about 6,600 cDNA clones were analyzed from normal and normalized immature seed cDNA libraries. About 2,200 ESTs were putatively identified by BLASTX deduced amino acid sequence homology analysis. About 20% of them were putatively identified as storage proteins. Also the clones were highly homologous to genes involved particularly in starch biosynthesis, glycolysis, signal transduction and defenses. Compared to 35% of redundancy in the ESTs of normal cDNA library, that from the substracted library was 15%. The Korea Rice Genome Network is maintained to provide the updated information of sequences, their homologies and sequence alignments of ESTs. For the stable expression of transgene in rice, diverse vectors were developed for overexpression, targeting and gene dosage effect with transit peptides (Tp) and matrix attachment region (MAR) sequence from chicken lysozyme locus. The rice calli were transformed via Agrobacterium tumefaciens LBA4404(pSB1) with the triparental mating technique and selected by herbicide resistance. The green fluorescent protein(GFP) gene in expression vector under the control of rbcS promoter-Tp was overexpressed upto 10 % of the total soluble protein. In addition, the Tp-sGFP fusion protein was properly processed during translocation into chloroplast. The expression of sGFP in the presence of MAR sequences was analyzed with Northern and immunoblot analysis. All the lines in which sGFP transgene with MAR sequence, showed position independent and copy number-dependent expression, while the lines without MAR showed the varied level of expression with the integration site. Thus the MAR sequence significantly reduced the variation in transgene expression between independent transformants.

• 한국버섯학회지
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• 제9권1호
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• pp.3-16
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• 2011

In the bipolar basidiomycete Pholiota nameko, a pair of homeodomain protein genes located at the A mating-type locus regulates mating compatibility. In the present study, we used a DNA-mediated transformation system in P. nameko to investigate the homeodomain proteins that control the clamp formation. When a single homeodomain protein gene (A3-hox1 or A3-hox2) from the A3 monokaryon strain was introduced into the A4 monokaryon strain, the transformants produced many pseudo-clamps but very few clamps. When two homeodomain protein genes (A3-hox1 and A3-hox2) were transformed either separately or together into the A4 monokaryon, the ratio of clamps to the clamp-like cells in the transformants was significantly increased to approximately 50%. We, therefore, concluded that the gene dosage of homeodomain protein genes is important for clamp formation. When the sip promoter was connected to the coding region of A3-hox1 and A3-hox2 and the fused fragments were introduced into NGW19-6 (A4), the transformants achieved more than 85% clamp formation and exhibited two nuclei per cell, similar to the dikaryon (NGW12-163 ${\times}$ NGW19-6). The results of real-time RT-PCR confirmed that sip promoter activity is greater than that of the native promoter of homeodomain protein genes in P. nameko. So, we concluded that nearly 100% clamp formation requires high expression levels of homeodomain protein genes and that altered expression of the A mating-type genes alone is sufficient to drive true clamp formation.

• 생명과학회지
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• 제21권4호
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• pp.616-620
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• 2011

진핵세포의 크로마틴에서 히스톤 단백질 H3와 H4의 라이신 잔기는 공유결합에 의해 변형된다. 히스톤 H3에서 27번 라이신은 아세틸화되거나(H3K27ac) 세 가지 단계로 메틸화가 될 수 있으며(H3K27me1, H3K27me2, H3K27me3), 이러한 H3K27의 변형들은 각각 독특한 형태로 유전자 전사 및 크로마틴 구조와 관련된다. 일반적으로 H3K27ac과 H3K27me1은 좌위조절부위나 활발히 전사되는 유전자처럼 활성 크로마틴에서 나타나고, 이에 반해 전사가 일어나지 않은 유전자는 높은 수준의 H3K27me2과 H3K27me3이 관찰된다. 이러한 변형들은 각각 다른 종류의 변형효소에 의해 촉매된다. 최근 연구들은 유전자 전사 및 크로마틴 구조 형성에서 H3K27의 네 가지 변형들 사이에 상관 관계가 있음을 제시하고 있다.

• 미생물학회지
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• 제29권1호
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• pp.16-24
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• 1991

The yeast gene THR1 encodes the homoserine kinase (EC 2.7.1.39: HKase) which catalyses the first step of the threonine specific arm at the end of the common pathway for methionine and threonine biosynthesis. A recombinant plasmid pMC3 (12.6 kilobase pairs, vector YCp50) has been cloned into E. coli HB101 from a yeast genomic library through its complementing activity of a thr1 mutation in a yeast recipient strain M39-1D. When subcloned into pMC32 (8.6kbp, vector YRp7) and pMC35 (8.3 kbp, vector YIp5), the HindIII fragment (2.7 kbp) of pMC3 insery was positive in the thrI complementing activity in both yeast and E. coli auxotrophic strains. The linearized pMC35 was introduced into the original recipient yeast strain and the mitotically stable chromosomal integrant was identified among the transformants. Through the tetrad analysis, the integration site of the pMC35 was localized to the region of THR1 structural gene at an expected genetic distance of approximately 11.1 cM from the ARG4 locus on the right arm of the yeast chromosome VIII. When episomically introduced into the auxotrophic cells and cultured in Thr omission liquid medium, the cloned gene overexpressed the HKase in the order of thirteen to fifteenfold, as compared with a wildtype. HKase levels are repressed by addition of threonine at the amount of 300 mg/l and 1, 190 mg/l for pMC32 and pMC3, respectively. Data from genetic analysis and HKase response thus support that the cloned HindIII yeast DNA fragment contains the yeast thr1 structural gene, along with necessary regulatory components for control of its proper expression.