• Korean Journal of Cleft Lip And Palate
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• v.10 no.2
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• pp.81-88
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• 2007

Cleft lip and palate (CLP) is one of the most prevalent congenital craniofacial anomalies. It has a significantly greater incidence of dental abnormalities in number, size, shape, and eruption of the teeth. Knout-out mouse model can identify several genes which play an important role in tooth agenesis. Since disruption of these genes has been confirmed to result in tooth agenesis in humans, CLP associated with hypodontia may be the best models for isolated tooth agenesis. According to the studies of dental abnormalities in CLP, the severity of dental defect is known to be influenced by the CLP phenotype. The cumulative data obtained from mouse and human genetic studies indicated that MSX1, PAX9 and AXIN2 are considered as candidate genes in non-syndromic hypodontia, while Shh, Pitx2, Irf6, p63 and EDA pathway genes are involved in syndromic one. We expect that genetic approach of CLP can offer the basis for tooth regeneration and be a new target in hypodontia therapy.

• ALGAE
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• v.30 no.2
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• pp.89-101
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• 2015

Ecklonia cava Kjellman is a common kelp found in shallow subtidal in warm-temperate waters in the northwest Pacific Ocean. This species has shown substantial morphological variation along with subsistence in different locations and local environments. We quantified the magnitude of morphological variation of E. cava from six populations along ~700 km of coastline from Jeju Island to Dokdo in Korea. In addition, we examined genetic distance among the populations using random amplified polymorphic DNA (RAPD) analysis. Most morphological characteristics investigated were significantly different among locations. Multivariate analyses indicated two phenetically distinct groups (nearshore, sheltered vs. offshore, exposed), indicating wave exposure with turbidity are presumably major factors for the separation. With RAPD data, results of Nei's diversity (H) and AMOVA showed considerable variations in within- and between-populations. Pairwise ${\Phi}_{ST}$ and $N_m$ values indicated moderate gene flow between the six locations. Results of Nei's analysis revealed three genetically distinct groups, not consistent with the morphological groupings, indicating that a time gap may exist between morphological and genetic variations. This study also suggests dispersal distance of this kelp may be longer than what is commonly thought and genetic similarity in the populations was largely reflected by the direction of ocean current rather than just geographical distance.

• Korean Journal of Plant Taxonomy
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• v.48 no.1
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• pp.24-36
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• 2018

A morphological and molecular survey was conducted to determine the taxonomic status of Saussurea maximowiczii var. triceps on Jejudo Island. Although it tends to be smaller than S. maximowiczii with regard to typical quantitative characters of vegetative organs, including the plant height and leaf size, these two taxa cannot be distinguished from each other based on major reproductive characters, including the involucre and florets. Molecular data support the contention that S. triceps and S. maximowiczii are monophyletic taxa. Saussurea maximowiczii var. triceps is found to be an ecological phenotype of S. maximowiczii that has adapted particularly to the windy highlands of Hallasan Mountain on Jejudo Island.

• Proceedings of the Korean Society of Crop Science Conference
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• 2017.06a
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• pp.164-164
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• 2017

High throughput transcriptome investigations of immunity in plants highlight the complexity of gene networks leading to incompatible interaction. To identify genes crucial to resistance against Xanthomonas oryzae pv oryzae, functional genetic analysis of selected differentially expressed genes from our microarray data set was carried out. A total of 13 overexpression vector constructs were made using 35S CaMV promoter which drive constitutive expression in rice. Most of the genes are developmentally expressed especially during maximum tillering stage and are commonly highly expressed in the leaves. When screened against Xoo strain K2, the transgenic plants displayed shorter lesion length compared with wild type Dongjin which indicates partial resistance. The levels of ROS continuously magnified after inoculation which indicates robust cellular sensing necessary to initiate cell death. Elevated transcripts levels of several defense-related genes at the downstream of defense signal network also corroborate the phenotype reaction of the transgenic plants. Moreover, expression assays revealed regulation of these genes by cross-communicating signal-transductions pathways mediated by salicylic and jasmonic acid. These collective findings revealed the key immune signaling conduits critical to mount full defense against Xoo.

• BMB Reports
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• v.46 no.8
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• pp.416-421
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• 2013

Genome-wide association studies (GWAS) have become popular as an approach for the identification of large numbers of phenotype-associated variants. However, differences in genetic architecture and environmental factors mean that the effect of variants can vary across populations. Understanding population genetic diversity is valuable for the investigation of possible population specific and independent effects of variants. EvoSNP-DB aims to provide information regarding genetic diversity among East Asian populations, including Chinese, Japanese, and Korean. Non-redundant SNPs (1.6 million) were genotyped in 54 Korean trios (162 samples) and were compared with 4 million SNPs from HapMap phase II populations. EvoSNP-DB provides two user interfaces for data query and visualization, and integrates scores of genetic diversity (Fst and VarLD) at the level of SNPs, genes, and chromosome regions. EvoSNP-DB is a web-based application that allows users to navigate and visualize measurements of population genetic differences in an interactive manner, and is available online at [http://biomi.cdc.go.kr/EvoSNP/].

• Genomics & Informatics
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• v.12 no.4
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• pp.247-253
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• 2014

Osteosarcoma is the most common primary bone tumor, generally affecting young people. While the etiology of osteosarcoma has been largely unknown, recent studies have suggested that cyclooxygenase-2 (COX-2) plays a critical role in the proliferation, migration, and invasion of osteosarcoma cells. To understand the mechanism of action of COX-2 in the pathogenesis of osteosarcoma, we compared gene expression patterns between three stable COX-2-overexpressing cell lines and three control cell lines derived from U2OS human osteosarcoma cells. The data showed that 56 genes were upregulated, whereas 20 genes were downregulated, in COX-2-overexpressed cell lines, with an average fold-change > 1.5. Among the upregulated genes, COL1A1, COL5A2, FBN1, HOXD10, RUNX2, and TRAPPC2 are involved in bone and skeletal system development, while DDR2, RAC2, RUNX2, and TSPAN31 are involved in the positive regulation of cell proliferation. Among the downregulated genes, HIST1H1D, HIST1H2AI, HIST1H3H, and HIST1H4C are involved in nucleosome assembly and DNA packaging. These results may provide useful information to elucidate the molecular mechanism of the COX-2-mediated malignant phenotype in osteosarcoma.

• Molecules and Cells
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• v.37 no.5
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• pp.389-398
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• 2014

Siah acts as an E3 ubiquitin ligase that binds proteins destined for degradation. Extensive homology between siah and Drosophila Siah homologue (sina) suggests their important physiological roles during embryonic development. However, detailed functional studies of Siah in vertebrate development have not been carried out. Here we report that Siah2 specifically augments nodal related gene expression in marginal blastomeres at late blastula through early gastrula stages of zebrafish embryos. Siah2 dependent Nodal signaling augmentation is confirmed by cell-based reporter gene assays using 293T cells and 3TP-luciferase reporter plasmid. We also established a molecular hierarchy of Siah as a upstream regulator of FoxH1/Fast1 transcriptional factor in Nodal signaling. Elevated expression of nodal related genes by overexpression of Siah2 was enough to override the inhibitory effects of atv and lft2 on the Nodal signaling. In particular, E3 ubiquitin ligase activity of Siah2 is critical to limit the duration and/or magnitude of Nodal signaling. Additionally, since the embryos injected with Siah morpholinos mimicked the atv overexpression phenotype at least in part, our data support a model in which Siah is involved in mesendoderm patterning via modulating Nodal signaling.

• The Korean Journal of Applied Statistics
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• v.28 no.2
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• pp.221-230
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• 2015

Traditionally, sib-pair linkage analysis with repeated measures has employed linear mixed models, but it suffers from the lack of power to find genetic marker loci associated with a phenotype of interest. In this paper, we use a gamma mixed model to improve sib-pair linkage analysis and compare it with a linear mixed model in terms of power and Type I error. We illustrate that the use of gamma mixed model can achieve higher power than linear mixed model with Genetic Analysis Workshop 13 data.

• The Plant Pathology Journal
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• v.21 no.4
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• pp.395-401
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• 2005

The dlm (disease lesion mimic) mutant of soybean (Glycine max L. Merr) shows the similar lesion of a soybean disease caused by a fungus, Corynespora cassilcola. The lesion was examined at cellular and molecular level. Trypan blue staining result indicated that cell death was detectable in the entire region of leaves excluding veins when the lesions had already been developed. We found that the mesophyll cells of palisade layer in the dim mutant appeared to be wider apart from each other. The chloroplasts of the dim mutant cells contained bigger starch granules than those in normal plants. We also found that the lesion development of dlm plant was light-dependent and the starch degradation during the dark period of diurnal cycle was impaired in the mutant. Three soybean pathogenesis-related genes, PR-1a, PR-4, and PR-10, were examined for their expression patterns during the development of disease lesion mimic. The expression of all three genes was up-regulated to some extent upon the appearance of the disease lesion mimic. Although the exact function of DLM protein remains elusive, our data would provide some insight into mechanism underling the cell death associated with the dim mutation.

• Diabetes and Metabolism Journal
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• v.42 no.6
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• pp.451-464
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• 2018

Latent autoimmune diabetes in adults (LADA) is a heterogeneous disease characterized by a less intensive autoimmune process and a broad clinical phenotype compared to classical type 1 diabetes mellitus (T1DM), sharing features with both type 2 diabetes mellitus (T2DM) and T1DM. Since patients affected by LADA are initially insulin independent and recognizable only by testing for islet-cell autoantibodies, it could be difficult to identify LADA in clinical setting and a high misdiagnosis rate still remains among patients with T2DM. Ideally, islet-cell autoantibodies screening should be performed in subjects with newly diagnosed T2DM, ensuring a closer monitoring of those resulted positive and avoiding treatment of hyperglycaemia which might increase the rate of ${\beta}-cells$ loss. Thus, since the autoimmune process in LADA seems to be slower than in classical T1DM, there is a wider window for new therapeutic interventions that may slow down ${\beta}-cell$ failure. This review summarizes the current understanding of LADA, by evaluating data from most recent studies, the actual gaps in diagnosis and management. Finally, we critically highlight and discuss novel findings and future perspectives on the therapeutic approach in LADA.