• Molecules and Cells
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• 제27권4호
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• pp.481-490
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• 2009

Diverse posttranslational modifications of histones, such as acetylation and methylation, play important roles in controlling gene expression. Histone methylation in particular is involved in a broad range of biological processes, including heterochromatin formation, X-chromosome inactivation, genomic imprinting, and transcriptional regulation. Recently, it has been demonstrated that proteins containing the Jumonji (Jmj) C domain can demethylate histones. In Arabidopsis, twenty-one genes encode JmjC domain-containing proteins, which can be clustered into five clades. To address the biological roles of the Arabidopsis genes encoding JmjC-domain proteins, we analyzed the temporal and spatial expression patterns of nine genes. RT-PCR analyses indicate all nine Arabidopsis thaliana Jmj (AtJmj) genes studied are actively expressed in various tissues. Furthermore, studies of transgenic plants harboring AtJmj::${\beta}$-glucuronidase fusion constructs reveal that these nine AtJmj genes are expressed in a developmentally and spatially regulated manner.

• Preventive Nutrition and Food Science
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• 제6권4호
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• pp.206-210
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• 2001

Starch is an abundant resource in plant biomass, and it should be hydrolyzed enzymatically into fermentable sugars for ethanol fermentation. A genetic recombinant yeast, Saccharomyces cerevisiae GA-7458, was constructed by integrating the structural gene of both $\alpha$-amylase from Bacillus stearothermophilus and the gene (STA1) encoding glucoamylase from S. diastaticus into the chromosome of S. cerevisiae SH7458. The recombinant yeast showed active enzymatic activities of $\alpha$-amylase and glucoamylase. The productivity of ethanol fermentation from the pH-controlled batch culture (pH 5.5) was 2.6 times greater than that of the pH-uncontrolled batch culture. Moreover, in a fed-batch culture, more ethanol was produced (13.2 g/L), and the production yield was 0.38 with 2% of corn starch. Importantly, the integrated plasmids were fully maintained during ethanol fermentation.

• 대한치과마취과학회지
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• 제11권1호
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• pp.51-54
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• 2011

Wolff-Hirschorn syndrome is a condition that is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. A 9-year-old girl was brought to the clinic with a chief complaint of dental examination. The child was diagnosed as WHS at Samsung medical center. The child was under Sodium valproate, Atrovastatin medication for epilepsy, hyperlipidemia and had a history of heart surgery. So prophylactic antibiotics were recommended. The child was mentally retarded and had seizure so it was difficult to manage her behavior effectively. Thus dental treatment was carried out under general anesthesia. For prompt sedation induction we used 8% sevoflurane shortly. This report presents the case of a 9-year-old girl with WHS, who has received treatment for extensive caries under general anesthesia.

• 미생물학회지
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• 제53권4호
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• pp.332-333
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• 2017

단일 탄소원과 에너지원으로 1% 리그닌을 사용하여 퇴비를 농축배양한 시료로부터 Bacillus aryabhattai K13 균주를 분리하였다. K13 균주의 유전체는 약 5.0 Mb 크기의 염색체와 139 kb와 78 kb 크기의 2개 플라스미드로 구성되어 있다. 본 연구에서 결정된 유전체의 분석은 리그닌 분해에 관여하는 유전자를 규명할 수 있는 정보를 제공할 것으로 판단된다.

• 한국육종학회지
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• 제40권3호
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• pp.215-222
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• 2008

Fifty-two Korean japonica rice cultivars were analyzed for leaf blast resistance and genotyped with 4 STS and 26 SSR markers flanking the specific chromosome sites linked with blast resistance genes. In our analysis of resistance genes in 52 japonica cultivars using STS markers tightly linked to Pib, Pita, Pi5(t) and Pi9(t), the blast nursery reaction of the cultivars possessing the each four major genes were not identical to that of the differential lines. Eight of the 26 SSR markers were associated with resistant phenotypes against the isolates of blast nursery as well as the specific Korean blast isolates, 90-008 (KI-1113), 03-177 (KJ-105). These markers were linked to Pit, Pish, Pib, Pi5(t), Piz, Pia, Pik, Pi18, Pita and Pi25(t) resistance gene loci. Three of the eight SSR markers, MRG5836, RM224 and RM7102 only showed significantly associated with the phenotypes of blast nursery test for two consecutive years. These three SSR markers also could distinguish between resistant and susceptible japonica cultivars. These results demonstrate the usefulness of marker-assisted selection and genotypic monitoring for blast resistance of rice in blast breeding programs.

• Annals of Rehabilitation Medicine
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• 제42권6호
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• pp.884-887
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• 2018

We report a female proband carrying a de novo 5q34-q35.2 deletion breakpoint, and review the unique skeletal phenotype and possible genotype related to this mutation. The patient presented with a persistent head tilt and limited head rotation. Non-contrast-enhanced three-dimensional computed tomography of the cervical spine revealed several malformations including a bone cleft in the right pars interarticularis, a bone defect in both C5 lamina and the transverse foramen at C2-C3, agenesis of the right articular process of C5, bony fusion of C4-C5, and subluxation of the craniocervical joints. Several deformities of the cervical spine seen in this patient have not been associated with the 5q deletion. A review of 5q-related mutations suggests that abnormalities associated with MSX2 gene might cause cervical spine abnormalities.

• 미생물학회지
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• 제54권4호
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• pp.474-476
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• 2018

메티실린 내성 Staphylococcus epidermidis Z0117SE0041을 반려견 주인의 코점막으로부터 분리하였다. 완전 해독된 Z0117SE0041 균주의 게놈은 약 2.5 Mb의 염색체와 47 kb, 36 kb, 11 kb 크기의 3개 플라스미드로 구성되어 있었다. Z0117SE0041 균주는 병을 유발하거나 항생제 내성을 전파할 수 있는 가능성이 있으므로 보다 깊이 있는 유전체 분석이 요구된다.

• 미생물학회지
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• 제54권4호
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• pp.468-470
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• 2018

메티실린 내성 Staphylococcus epidermidis Z0117SE0042을 수의사의 코점막으로부터 분리하였다. 완전 해독된 Z0117SE0042 균주의 게놈은 약 2.5 Mb의 염색체와 24 kb, 23 kb 크기의 2개 플라스미드로 구성되어 있었다. 본 연구에서 해독된 유전체 정보는 인간의 정상미생물상에 존재하는 항생제 내성유전자의 분포를 추적하는데 유용한 기반이 될 것으로 기대된다.

• Journal of Genetic Medicine
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• 제18권1호
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• pp.31-37
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• 2021

Purpose: To summarize the results of chromosomal microarray analysis (CMA) for copy number variants (CNVs) detection and clinical utility in a single tertiary hospital. Materials and Methods: We performed CMA in 46 patients over the course of two years. Detected CNVs were classified into five categories according to the American College of Medical Genetics and Genomics guidelines and correlated with clinical manifestations. Results: A total of 31 CNVs were detected in 19 patients, with a median CNV number per patient of two CNVs. Among these, 16 CNVs were classified as pathogenic (n=3) or likely pathogenic (LP) (n=11) or variant of uncertain significance (n=4). The 16p11.2 deletion and 16p13.11 deletion classified as LP were most often detected in 6.5% (3/46), retrospectively. CMA diagnostic yield was 24.3% (9/37 patients) for symptomatic patients. The CNVs results of the commercial newborn screening test using next generation sequencing platforms showed high concordance with CMA results. Conclusion: CMA seems useful as a first-tier test for developmental delay with or without congenital anomalies. However, the classification and interpretation of CMA still remained a challenge. Further research is needed for evidence-based interpretation.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2022년도 추계학술대회
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• pp.217-217
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• 2022

Pullulanase (PUL), a debranching enzyme, has been utilized in hydrolyzing the a-1,6 glucosidic linkages in starch, amylopectin, pullulan, as well as related oligosaccharides. It has also been indicated that PUL is a novel indicator of inherent RS (Resistant Starch) formation in rice. In this study, we performed haplotype analysis on 320 bred rice accessions, and additional 54 wild accessions were added to study genetic diversity along with other population-based analyses of the PUL gene. Through these investigations, we summarized a total of 10 functional (non-synonymous) SNPs from 7 different exons on chromosome 4. There were 10 haplotypes, of which only six haplotypes were functional, implicating different subpopulations. Diversity reduction was noticed in temperate japonica (0.0005) compared to the highest one (aus, 0.0154), illustrating their higher genetic differentiation by F_ST-value (0.926). The highest Tajima^ D value was observed in indica (3.6613), indicating PUL gene domestication signature under balancing selection, while the lowest Tajima's D value was found in temperate japonica (-2.2191) which might have undergone under positive selection and purified due to the excess of rare alleles. PCA, population structure, and phylogenetic analyses provide information on the genetic relatedness between and or among the cultivated subpopulations and the wild based on PUL genomic region.