• Title/Summary/Keyword: Variants

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Replication of Interactions between Genome-Wide Genetic Variants and Body Mass Index in Fasting Glucose and Insulin Levels

  • Hong, Kyung-Won;Chung, Myungguen;Cho, Seong Beom
    • Genomics & Informatics
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    • v.12 no.4
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    • pp.236-239
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    • 2014
  • The genetic regulation of glucose and insulin levels might be modified by adiposity. With regard to the genetic factors that are altered by adiposity, a large meta-analysis on the interactions between genetic variants and body mass index with regard to fasting glucose and insulin levels was reported by the Meta-Analyses of Glucose- and Insulin-related trait Consortium (MAGIC), based on European ancestry. Because no replication study has been performed in other ethnic groups, we first examined the link between reported single-nucleotide polymorphisms (SNPs) and fasting glucose and insulin levels in a large Korean cohort (Korean Genome and Epidemiology Study cohort [KoGES], n = 5,814). The MAGIC study reported 7 novel SNPs for fasting glucose levels and 6 novel SNPs for fasting insulin levels. In this study, we attempted to replicate the association of 5 SNPs with fasting glucose levels and 5 SNPs with fasting insulin levels. One SNP (rs2293941) in PDX1 was identified as a significant obesity-modifiable factor in Koreans. Our results indicate that the novel loci that were identified by MAGIC are poorly replicated in other ethnic groups, although we do not know why.

Interpretation of Adaptational Environment of the genus Trapa in Korea Through peat deposit

  • Lee, Jin-Hee;Kim, Dae-Jae
    • Korean Journal of Environment and Ecology
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    • v.29 no.1
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    • pp.69-80
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    • 2015
  • Studies on Trapa of Korean, Japanese, and Chinese origins have been generally limited to currently living Trapa, thereby demonstrating the lack of phylogenetic approaches. In the present study, we conducted a numerical taxonomic study on 34 Korean origin Trapa species newly discovered in peat deposits. By using the numerical taxonomy as well as geological data, we created an appearance map based on the periods and taxonomic groups of the Korean Trapa. Further, by using this appearance map, we reviewed the limitations that exist in the taxa and simultaneously discussed the adaptational environment of Trapa in each period. Although other studies have discussed new variants of Trapa worldwide, including T. litwinowii V. vassil. var. chihuensis S.F.Guan & Q.Lang of China (Guan and Lang, 1987), the present study is significant because it provides data on the origin of Korean Trapa species. The availability of such data is essential in determining the adaptational environment of the presently living Trapa. To our knowledge, this is the first report of approximately 10 newly discovered and other presently living species of Trapa. Further, the appearance map in the present study allows the use of the 10 newly discovered species and variants of 34 Trapa species indigenous to South Korea for over 1000 years, for a comparison with the currently living Trapa species. Thus, the present study results could serve as important basic data to understand the adaptational environment of the genus Trapa. from the past to the present in Korea.

Association Analysis between Genes' Variants for Regulating Mitochondrial Dynamics and Fasting Blood Glucose Level

  • Jung, Dongju;Jin, Hyun-Seok
    • Biomedical Science Letters
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    • v.22 no.3
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    • pp.107-114
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    • 2016
  • Maintenance of fasting blood glucose levels is important for glucose homeostasis. Disruption of feedback mechanisms are a major reason for elevations of glucose level in blood, which is a risk factor for type 2 diabetes mellitus that is mainly caused by malfunction of pancreatic beta-cell and insulin. The fasting blood glucose level has been known to be influenced by genetic and environmental factors. Mitochondria have many functions for cell survival and death: glucose metabolism, fatty acid oxidation, ATP generation, reactive oxygen species (ROS) metabolism, calcium handling, and apoptosis regulation. In addition to these functions, mitochondria change their morphology dynamically in response to multiple signals resulting in fusion and fission. In this study, we aimed to examine association between fasting blood glucose levels and variants of the genes that are reported to have functions in mitochondrial dynamics, fusion and fission, using a cohort study. A total 416 SNPs from 36 mitochondrial dynamics genes were selected to analyze the quantitative association with fasting glucose level. Among the 416 SNPs, 4 SNPs of PRKACB, 13 SNPs of PPP3CA, 6 SNPs of PARK2, and 3 SNPs of GDAP1 were significantly associated. In this study, we were able to confirm an association of mitochondrial dynamics genes with glucose levels. To our knowledge our study is the first to identify specific SNPs related to fasting blood glucose level.

Genetic variants and signatures of selective sweep of Hanwoo population (Korean native cattle)

  • Lee, Taeheon;Cho, Seoae;Seo, Kang Seok;Chang, Jongsoo;Kim, Heebal;Yoon, Duhak
    • BMB Reports
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    • v.46 no.7
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    • pp.346-351
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    • 2013
  • Although there have been many studies of native Korean cattle, Hanwoo, there have been no selective sweep studies in these animals. This study was performed to characterize genetic variation and identify selective signatures. We sequenced the genomes of 12 cattle, and identified 15125420 SNPs, 1768114 INDELs, and 3445 CNVs. The SNPs, INDELs, and CNVs were similarly distributed throughout the genome, and highly variable regions were shown to contain the BoLA family and GPR180, which are related to adaptive immunity. We also identified the domestication footprints of the Hanwoo population by searching for selective sweep signatures, which revealed the RCN2 gene related to BPV resistance. The results of this study may contribute to genetic improvement of the Hanwoo population in Korea.

Structural Identification of Modified Amino Acids on the Interface between EPO and Its Receptor from EPO BRP, Human Recombinant Erythropoietin by LC/MS Analysis

  • Song, Kwang-Eun;Byeon, Jaehee;Moon, Dae-Bong;Kim, Hyong-Ha;Choi, Yoo-Joo;Suh, Jung-Keun
    • Molecules and Cells
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    • v.37 no.11
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    • pp.819-826
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    • 2014
  • Protein modifications of recombinant pharmaceuticals have been observed both in vitro and in vivo. These modifications may result in lower efficacy, as well as bioavailability changes and antigenicity among the protein pharmaceuticals. Therefore, the contents of modification should be monitored for the quality and efficacy of protein pharmaceuticals. The interface of EPO and its receptor was visualized, and potential amino acids interacting on the interface were also listed. Two different types of modifications on the interface were identified in the preparation of rHu-EPO BRP. A UPLC/Q-TOF MS method was used to evaluate the modification at those variants. The modification of the oxidized variant was localized on the Met54 and the deamidated variants were localized on the Asn47 and Asn147. The extent of oxidation at Met54 was 3.0% and those of deamidation at Asn47 and Asn147 were 2.9% and 4.8%, respectively.

A Study on the Integrated Digital Signature System for Smart Card (지능형 전자 증명 카드에 적합한 통합 서명 시스템에 관한 연구)

  • 김승주;이보영;원동호
    • The Journal of Korean Institute of Communications and Information Sciences
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    • v.22 no.4
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    • pp.870-879
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    • 1997
  • At crypto'89 meeting, D. chaum suggested an undeniable signature scheme. Undeniable signatures are verified via a protocol between the signer and verifier, so the cooperation of the signer is necessary. So far, ther have been several variants of undeniable signatures to obtain a signature scheme, which can control the abous of ordinary digital signatures. In this paper we integrate these variants into a generalized undeniable-type signature scheme. Also, it will be pointed out, that undeniable signature schemes but its first realization are vulnerable in full view of eavesdropping third party. Moreover, to solve this problem, we propose a new type of digital signature, called "result-indisting-uishable undeniable signature" and construct a practical protocol that implements it.

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Generation of ovine recombinant prion protein (25-232): Characterisation via anti-PrP monoclonal antibodies and CD spectroscopy

  • Yang, Su-Jeong;Thackray, Alana;Bujdoso, Raymond
    • Korean Journal of Veterinary Service
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    • v.28 no.4
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    • pp.393-405
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    • 2005
  • In prion pathogenesis, the structural conversion of the cellular prion protein $(PrP^c)$ to its abnormal isomer $(PrP^{Sc})$ is believed to be a major event. The susceptibility or resistance to natural sheep scrapie is associated with polymorphisms of host PrP gene (PRNP) at amino acid residues 136, to a lesser extent 154. The 112 residue in ovine PrP displays a natural polymorphism, Methionine to Threonine, which has not been thoroughly investigated. However the cell-free conversion assay showed that ARQ with Thr112 $(T_{112}ARQ)^{1)}$ presents lower convertibility to $PrP^{Sc}$than wild type ARQ $(M_{112}ARQ)$ [1] In this study we generated ovine recombinant PrPs of 112 allelic variants by metal chelate affinity chromatography and cation exchange chromatography. The final purity of the ovine PrP ARQ was more than $95\%$. These variants showed similar immunoreactivity against anti-PrP monoclonal antibodies in Western blot and ELISA. The refolded $M_{112}ARQ$ and $M_{112}ARQ$ presented the secondary structural content to similar extent via CD spectroscopy analysis. The inherited structural features of $M_{112}ARQ$ and $M_{112}ARQ$ under the different biophysical conditions are in the middle of investigation.

Clinical utility of chromosomal microarray analysis to detect copy number variants: Experience in a single tertiary hospital

  • Park, Hee Sue;Kim, Aryun;Shin, Kyeong Seob;Son, Bo Ra
    • Journal of Genetic Medicine
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    • v.18 no.1
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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.

Preimage Attacks on Step-Reduced ARIRANG (해쉬함수 ARIRANG의 출소된 단계에 대한 역상공격)

  • Hong, Deuk-Jo;Kim, Woo-Hwan;Koo, Bon-Wook
    • Journal of the Korea Institute of Information Security & Cryptology
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    • v.19 no.5
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    • pp.143-149
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    • 2009
  • The hash function ARIRANG is one of the 1st round SHA-3 candidates. In this paper, we present preimage attacks on ARIRANG with step-reduced compression functions. Our attack finds a preimage of the 33-step OFF(Original FeedForward1) variants of ARIRANG, and a preimage of the 31-step MFF(Middle FeedForward1) variants of ARIRANG. Its time complexity is about $2^{241}$ for ARIRANG-256 and $2^{481}$ for ARIRANG-512, respectively.

Deeper SSD: Simultaneous Up-sampling and Down-sampling for Drone Detection

  • Sun, Han;Geng, Wen;Shen, Jiaquan;Liu, Ningzhong;Liang, Dong;Zhou, Huiyu
    • KSII Transactions on Internet and Information Systems (TIIS)
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    • v.14 no.12
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    • pp.4795-4815
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    • 2020
  • Drone detection can be considered as a specific sort of small object detection, which has always been a challenge because of its small size and few features. For improving the detection rate of drones, we design a Deeper SSD network, which uses large-scale input image and deeper convolutional network to obtain more features that benefit small object classification. At the same time, in order to improve object classification performance, we implemented the up-sampling modules to increase the number of features for the low-level feature map. In addition, in order to improve object location performance, we adopted the down-sampling modules so that the context information can be used by the high-level feature map directly. Our proposed Deeper SSD and its variants are successfully applied to the self-designed drone datasets. Our experiments demonstrate the effectiveness of the Deeper SSD and its variants, which are useful to small drone's detection and recognition. These proposed methods can also detect small and large objects simultaneously.