• Horticultural Science & Technology
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• v.28 no.3
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• pp.442-448
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• 2010

The objectives of this study were to analyze mutant lines of Chinese cabbage ($Brassica$ $rapa$ ssp. $pekinensis$) using gene tagging system (plasmid rescue and inverse polymerase chain reaction) and to observe the phenotypic characteristics. Insertional mutants were derived by transferring DNA (T-DNA) of $Agrobacterium$ for functional genomics study in Chinese cabbage. The hypocotyls of Chinese cabbage 'Seoul' were used to obtain transgenic plants with $Agrobacterium$ $tumefaciens$ harboring pRCV2 vector. To tag T-DNA from the Chinese cabbage genomic DNA, plasmid rescue and inverse PCR were applied for multiple copies and single copy insertional mutants. These techniques were successfully conducted to Chinese cabbage plant with high efficiency, and as a result, T-DNA of pRCV2 vector showed distinct various integration patterns in the transgenic plant genome. The polyploidy level analysis showed the change in phenotypic characteristics of 13 mutant lines was not due to variation in somatic chromosome number. Compared with wild type, the $T_1$ progenies showed varied phenotypes, such as decreased stamen numbers, larger or smaller flowers, upright growth habit, hairless leaves, chlorosis symptoms, narrow leaves, and deeply serrated leaves. The polyploidy level analysis showed the change in phenotypic characteristics of 13 mutant lines was not due to variation in somatic chromosome number. To tag T-DNA from the Chinese cabbage genomic DNA, plasmid rescue and inverse PCR were applied for multiple copies and single copy insertional mutants. Mutants that showed distinct phenotypic difference compared to wild type with 1 copy of T-DNA by Southern blot analysis, and with 2n = 20 of chromosome number were selected. These selected mutant lines were sequenced flanking DNA, mapped genomic loci, and the genome information of the lines is being recorded in specially developed database.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.7-14
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• 2021

Purpose: Pseudohypoparathyroidism (PHP) is caused by genetic and epigenetic alteration in the GNAS locus, and characterized by the resistance to multiple hormones and the Albright's hereditary osteodystrophy (AHO) phenotype. This study investigated the phenotypic characteristics and molecular features of PHP. Methods: Eight patients who diagnosed as PHP were enrolled at Pusan National University Children's hospital and clinical features, biochemical and genetic findings were retrospectively reviewed. Results: Of a total of 8 patients, 5 were diagnosed with PHP1a, and 3 were diagnosed with PHP1b. Patients with PHP1a had three different mutations in the GNAS gene, and patients with PHPIb had imprinting defect in differentially methylated regions (DMRs) of the GNAS locus. Two novel GNAS variants were identified in patients with PHP1a, including c.313-2A>T and c.1094G>A. All patients with PHP1a displayed AHO features; short stature (80%), brachydactyly (80%), a round face (80%), obesity (40%), heterotopic ossification (60%), and intellectual disability (60%), whereas only one patient (33.3%) with PHP1b showed AHO feature such as a round face. When phenotypic features between PHP1a and PHP1b patients were compared, patients with PHP1b showed a tendency of higher current height standard deviation scores (SDS) compared to patients with PHP1a, (-3.2±2.1 vs.-1.1±0.8; P=0.06) Conclusions: This study summarizes the phenotypic and genetic features of the PHP patients. Although we found considerable clinical overlap between PHP1a and PHP1b, further long-term follow-up is needed to evaluate the growth and development of children with PHP, as well as the effects of end-organ resistances to endocrine hormones.

• Journal of Microbiology
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• v.45 no.2
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• pp.146-152
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• 2007

A mutant exhibiting decreased cytotoxic activity toward INT-407 intestinal epithelial cells and carrying a mutation in the rtx gene cluster that consists of rtxCA and rtxBDE operons was screened from a library of V. vulnificus mutants. The functions of the rtxA gene, assessed by constructing an isogenic mutant and evaluating its phenotypic changes, demonstrated that RtxA is essential for the virulence of V. vulnificus in mice as well as in tissue cultures.

• Genomics & Informatics
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• v.6 no.4
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• pp.166-172
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• 2008

A multitude of protein-coding sequence variations (CVs) in the human genome have been revealed as a result of major initiatives, including the Human Variome Project, the 1000 Genomes Project, and the International Cancer Genome Consortium. This naturally has led to debate over how to accurately assess the functional consequences of CVs, because predicting the functional effects of CVs and their relevance to disease phenotypes is becoming increasingly important. This article surveys and compares variation databases and in silico prediction programs that assess the effects of CVs on protein function. We also introduce a combinatorial approach that uses machine learning algorithms to improve prediction performance.

• Korean Journal of Veterinary Research
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• v.31 no.2
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• pp.229-234
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• 1991

Thc chimeric morulae were produced following aggregation of the half embryos which were microsurgically bisected at 8-cell and early morula stage. Different phenotypic embryos were obtained by mating ICR female mice with ICR or CBA male mice. The early morula stage was thc desirable stage for the aggregation of mouse embryos after bisection. The post-thawed survival rates of bisected-aggregated embryos that developed into normal blastocyst after conventional freezing in DMSO and ethylene glycol were 30.5 and 32.896, respectively. One offspring was produced by transferring the 67 frozen-thawed bisected-aggregated embryos.

• Molecules and Cells
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• v.38 no.9
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• pp.750-758
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• 2015

Genomic instability and altered metabolism are key features of most cancers. Recent studies suggest that metabolic reprogramming is part of a systematic response to cellular DNA damage. Thus, defining the molecules that fine-tune metabolism in response to DNA damage will enhance our understanding of molecular mechanisms of tumorigenesis and have profound implications for the development of strategies for cancer therapy. Sirtuins have been established as critical regulators in cellular homeostasis and physiology. Here, we review the emerging data revealing a pivotal function of sirtuins in genome maintenance and cell metabolism, and highlight current advances about the phenotypic consequences of defects in these critical regulators in tumorigenesis. While many questions should be addressed about the regulation and context-dependent functions of sirtuins, it appears clear that sirtuins may provide a promising, exciting new avenue for cancer therapy.

• Journal of Interdisciplinary Genomics
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• v.2 no.2
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• pp.13-17
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• 2020

Infantile nystagmus syndrome (INS) is a genetically heterogeneous disorder. To date, more than 100 genes have been reported to cause INS and there is significant overlap in phenotypic characteristics. The most common form of X-linked INS is attributed to FRMD7 at Xq26. Recent advances in molecular genetics have facilitated the identification of pathogenic variants of FRMD7 and the investigation for underlying mechanisms of FRMD7-associated INS. This review summarizes genetic and clinical features of FRMD7-associated INS, and introduces updates on the pathogenesis of FRMD7 mutation.

• Asian-Australasian Journal of Animal Sciences
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• v.3 no.4
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• pp.293-298
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• 1990

Pathogen infections or mastitis inflammations usually develop differently on each udder of lactating cow. Although healthy udders will be attacked by the mastitis pathogens or the pathogens from blood in a long term, they would not be always inflamed. Somatic cell counts (SCC) in milk, which is utilized as an index of mastitis diagnosis, and the relation among SCC and milk constituents will have to be examined on each udder individually. Twelve cows of a Holstein cow herd in Nasu Research Station, which were suffering clinical or non-clinical mastitis, were selected, and SCC and milk constituents on each udder milk were measured. The effects of mastitis infection on udder milk components were relatively small except lactose content on udder milks of non-clinical mastitis (SCC< $10.0{\times}10^5$ per ml milk). On udder milks of clinical mastitis, however, high negative correlations were recognized between SCC and milk components. On different sampling days, high contents of fat and protein corresponded to that of total solids.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.28 no.1
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• pp.4-13
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• 2017

The seeds of addiction are typically sown years prior to the onset of addictive substance use or engagement in addictive behaviors, due to the priming of the reward pathway (RewP) by alterations in the mechanism of stress-signaling from the hypothalamic-pituitary-adrenal axis (HPA) and related pathways. Excessive stress from a single-event and/or cumulative life experiences during childhood, such as those documented in the Adverse Childhood Experiences Study, is translated into neurobiological toxicity that alters the set-point of the HPA axis and limbic system homeostasis [suggested new term: regulation pathway (RegP)]. The resultant alteration of the RegP not only increases the risk for psychiatric and physical illness, but also that for early onset and chronic addictions by dysregulating the RewP. This paper reviews the interface of these symbiotic pathways that result in the phenotypic pathology of emotional dysregulation, cognitive impairment, and compulsive behaviors, as well as morbidity and shorter life expectancy when dysregulated by chronic stress.

• Mycobiology
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• v.38 no.1
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• pp.1-6
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• 2010

63 strains of Aspergillus section Fumigati were isolated from 17 samples of arable soil in a central province of Korea. Based on the results of genotypic and phenotypic analyses, they were identified as Aspergillus fumigatus, A. lentulus, Neosartorya coreana, N. fennelliae, N. fischeri, N. glabra, N. hiratsukae, N. laciniosa, N. pseudofischeri, N. quadricincta, N. spinosa and N. udagawae. Among these, N. fennelliae, N. hiratsukae, N. quadricincta, and N. udagawae had not been previously recorded in Korea. The diversity of Aspergillus section Fumigati species from arable soil in Korea is also addressed.