• Asian-Australasian Journal of Animal Sciences
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• 제29권11호
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• pp.1541-1546
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• 2016

Four carcass traits, namely carcass weight (CW), eye muscle area (EMA), back fat thickness (BF), and marbling score (MS), are the main price decision parameters used for purchasing Hanwoo beef. The development of DNA markers for these carcass traits for use in a beef management system could result in substantial profit for beef producers in Korea. The objective of this study was to validate the association of highly significant single nucleotide polymorphisms (SNPs) identified in a previous genome-wide association study (GWAS) with the four carcass traits in a commercial Hanwoo population. We genotyped 83 SNPs distributed across all 29 autosomes in 867 steers from a Korean Hanwoo feedlot. Six SNPs, namely ARS-BFGL-NGS-22774 (Chr4, Pos:4889229), ARS-BFGL-NGS-100046 (Chr6, Pos:61917424), ARS-BFGL-NGS-39006 (Chr27, Pos:38059196), ARS-BFGL-NGS-18790 (Chr10, Pos:26489109), ARS-BFGL-NGS-43879 (Chr9, Pos:39964297), and BTB-00775794 (Chr20, Pos:20476265), were found to be associated with CW, EMA, BF, and MS. The ARS-BFGL-NGS-22774, BTB-00775794, and ARS-BFGL-NGS-39006 markers accounted for 1.80%, 1.72%, and 1.35% (p<0.01), respectively, of the phenotypic variance in the commercial Hanwoo population. Many genes located in close proximity to the significant SNPs identified in this study were previously reported to have roles in carcass traits. The results of this study could be useful for marker-assisted selection programs.

• Clinical and Experimental Pediatrics
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• 제51권8호
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• pp.827-833
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• 2008

목 적 : 영유아기에 발생하는 철 결핍성 빈혈은 성장, 발달에 심각한 영향을 미칠 수 있으므로 철 결핍을 조기 진단하는 것은 매우 중요하다. 고식적으로 사용되고 있는 혈청 ferritin이나 iron 대신 염증이나 만성질환 등에 영향을 받지 않고 철 결핍 상태를 진단하는데 비용이나 혈액채취량의 부담을 줄일 수 있는 장점이 있는 망상적혈구혈색소량을 다른 철 결핍 지표들과 함께 비교하였다. 방 법 : 2006년 6월부터 2007년 1월까지 을지대학병원 소아과에 급성 감염성 질환으로 입원한 생후 6개월에서 24개월 영유아를 대상으로 하였다. 정맥혈을 채혈하여 ADVIA 120 (Bayer Diagnostics, NY, USA)을 이용하여 Hb, MCV, MCH, CH, CHr, RDW를 검사하였고, 철 상태를 평가하기 위하여 iron, iron binding capacity, ferritin을 측정하였다. 혈색소 11 g/dL, Tfsat 20%를 기준으로 철 결핍성 빈혈군, 철 결핍군, 철 결핍이 없는 군을 나누었다. 결 과 : 총 69명의 영유아 중 철 결핍이 있는 환아가 47명, 이중 17명이 철 결핍성 빈혈군에 해당되었으며 철 결핍이 없는 군이 22명이었다. 빈혈을 포함한 철 결핍이 있는 집단과 철 결핍이 없는 군과는 MCH (P<0.01), CH (P<0.01), RDW (P<0.05) 및 CHr (P<0.01)이 유의하게 차이가 있었지만, ferritin은 두 집단 간에 차이가 없었다(P=0.109). CHr은 철결핍에 유의한 예측변수로 나타났다(LRT=71.25; odds ratio=0.67 [95% 신뢰구간, 0.47-0.97]; P<0.05). 철 결핍군을 빈혈이 있는 집단과 빈혈이 없는 집단과 비교하였을 때 MCV, MCH, CH, RDW가 유의한 차이를 보였다(모두 P<0.05). 또한 CHr, iron, TIBC, ferritin은 두 군간에 차이가 없었다(P>0.05). CHr의 cutoff 27.4 pg을 기준으로 전체 집단을 구분하여 비교하였을 경우에는 Hb, MCH, CH, Tfsat, iron (모두 P<0.05) 모두 통계적으로 유의한 차이를 보였으나 MCV (P=0.188), RDW (P=0.138), ferritin (P=0.730), TIBC (P=0.700)는 차이를 보이지 않았다. 결 론 : CHr은 일부 기종에 국한되어 제공되는 사항이고 적절한 참고치의 설정이 필요하지만, 6개월에서 24개월령의 유소아에서 철 결핍 상태를 진단하는데 급성염증반응에 영향을 받지 않고, 비용이나 혈액채취량의 부담을 줄일 수 있는 장점이 있어 새로운 지표로 이용이 가능하리라 생각된다.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2022년도 추계학술대회
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• pp.186-186
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• 2022

Phytophthora root and stem rot (PRSR) and wildfire disease (WFD) of soybean are frequently observed in the field of South Korea. The most environmentally friendly way to control PRSR and WFD is to use soybean varieties with resistance to Phytophthora sojae (P. sojae) and Pseudomonas amygdali pv. tabaci. Plant germplasm is an important gene pool for soybean breeding and improvement. In this study, hundreds of soybean accessions were evaluated for the two pathogens, and genome-wide association analyses were conducted using 104,955 SNPs to identify resistance loci for the two pathogens. Of 193 accessions, 46 genotypes showed resistance reaction, while 143 did susceptibility for PRSP. Twenty SNPs were significantly associated with resistance to P. sojae on chromosomes (Chr.) 3 and 4. Significant SNPs on Chr.3 were located within the known Rps gene region. A region on Chr. 4 is considered as a new candidate resistance loci. For evalation of resistance to WFD, 18, 31,74,36 and 34 genotypes were counted by a scale of 1-5, respectively. Five SNP markers on Chrs 9,11,12,17 and 18 were significantly associated with resistance to P. amygdali pv. tabaci. The identified SNPs and genomic regions will provide a useful information for further researches and breeding for resistance to P. sojae and P. amygdali pv. tabaci.

• 생명과학회지
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• 제19권4호
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• pp.449-456
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• 2009

신경아세포종은 미분화된 신경외배엽 세포로부터 유래한 신경능세포에 의해 형성된 소아기에 보는 가장 많이 발생하는 악성 종양 중 하나이다. 신경아세포종인 Neuro-2a 세포는 신경세포의 분화, 세포사 억제 효능, 세포독성 검정 등에 활용되고 있다. Neuro-2a 역시 다른 신경아세종과 같이 염색체 변이를 가지고 있지만, 이에 대해 고밀도의 게놈수준에서 염색체 변이에 대해 보고된 바가 없다. 본 연구에서는 고집적 마이크로어레이(최소 43,000 개의 코딩, non-코딩 유전자 서열이 집적된 마이크로어레이)기반의 비교유전체보합법을 활용하여, 고해상도의 Neuro-2a 유전체 이상을 분석하였다. 마이크로 어레이 데이터는 Hidden Markov Model을 활용하여, 유전체 변이를 double loss, single loss, normal, single gain 그리고 amplification으로 나누어 분석하였다. Neuro2a는 MYCN 유전자의 증폭은 관찰되지 않았고, GDNF, BDNF, NENF등의 neurotrophic factor 가운데 NENF의 gain 현상이 관찰 되었다. 염색체의 이상은 4,8,10,11,15번에서 발견되었으며, 염색체 3,17,18,19에서는 전부 20개 미만의 염색체 이상이 발견되었다. 염색체 이상이 연속적으로 일어난 부위 중 gain으로서 가장 긴 부분은 Chr8:8,427,841-35,162,415의 약 26.7 Mb이며, single loss로서 가장 긴 곳은 Chr4:73,265,785-88,374,165의 약 15.1 Mb였다. 염색체의 위치는 UCSC 데이터베이스 (UCSC mm8, NCBI Build 36)에 근거하였다.

• BMB Reports
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• 제45권11호
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• pp.595-603
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• 2012

Human Ly-6/uPAR molecules are a superfamily composed of two subfamilies; one is the membrane bound proteins with a GPI-anchor and the other are secreted proteins without the GPI-anchor. Ly-6/uPAR molecules have remarkable amino acid homology through a distinctive 8-10 cysteine-rich domain that is associated predominantly with O-linked glycans. These molecules are encoded by multiple tightly linked genes located on Chr. 8q23, and have a conserved genomic organization. Ly-6/uPAR molecules have an interesting expression pattern during hematopoiesis and on specific tumors indicating that Ly-6/uPAR molecules are associated with development of the immune system and carcinogenesis. Thus, Ly-6/uPAR molecules are useful antigens for diagnostic and therapeutic targets. This review summarizes our understanding of human Ly-6/uPAR molecules with regard to molecular structure as well as what is known about their function in normal and malignant tissues and suggest Ly-6/uPAR molecules as target antigens for cancer immunotherapy.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2022년도 추계학술대회
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• pp.202-202
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• 2022

Recently days, soybean production in paddy field is increasing, from 4,422 ha in 2016 to 10,658 ha in 2021 in Korea. It is easy for Phytophthora stem and root rot (PSR) occurring in paddy field condition, when it is poorly drained soils with a high clay content, and temporary flooding and ponding. Therefore PSR resistant soybean cultivar is required. The objective of this study is to identify QTL region and candidate genes relating to PSR resistance of the race in main soybean cultivation area in Korea. 210 soybean materials including cultivars and germplasm were used for inoculation and genome-wide association study (GWAS). Inoculation was conducted using stem-scar method with 2 replications in 2-year for the race 3053 from Kimje and 3617 from Andong. 210 materials were genotyped with Soya SNP 180K chip, and structure analysis and association mapping were conducted with QTLMAX V2. The results of inoculation showed that survival ratio ranged from 0% to 96.7% and mean 9.7% for 3053 and ranged from 0% to 100% and mean 7.6% for 3617. Structure analysis showed linkage disequillibrium (LD) was decayed below r²=0.5 at 335kb of SNP distance. Significant SNPs (LOD>7.0) were identified in Chr 1, 2, 3, 4, 5, 11, 14, 15 for 3053 and Chr 1, 2, 3, 7, 10, 14 for 3617. Especially, LD blocks (AX-90455181;15,056,628bp~AX-90475572;15,298,872bp) in Chr 2 for 3053 and 3067 were duplicated. 29 genes were identified on these genetic regions including Glyma.02gl47000 relating to ribosome recycling factor and defense response to fungus in Soybase.

• 한국환경과학회지
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• 제25권6호
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• pp.839-851
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• 2016

The effect of weather on disease was investigated based on results reported in academic papers. Weather-sensitive disease was selected by analyzing the frequency distributions of diseases and correlations between diseases and meteorological factors (e.g., temperature, humidity, pressure, and wind speed). Correlations between disease and meteorological factors were most frequently reported for myocardial infarction (MI) (28%) followed by chronic ischemic heart disease (CHR) (12%), stroke (STR) (10%), and angina pectoris (ANG) (5%). These four diseases had significant correlations with temperature (meaningful correlation for MI and negative correlations for CHR, STR, and ANG). Selecting MI, as a representative weather-sensitive disease, and summarizing the quantitative correlations with meteorological factors revealed that, daily hospital admissions for MI increased approximately 1.7%-2.2% with each $1^{\circ}C$ decrease in physiologically equivalent temperature. On the days when MI occurred in three or more patients larger daily temperature ranges ($2.3^{\circ}C$ increase) were reported compared with the days when MI occurred in fewer than three patients. In addition, variations in pressure (10 mbar, 1016 mbar standard) and relative humidity (10%) contributed to an 11%-12% increase in deaths from MI and an approximately 10% increase in the incidence of MI, respectively.

• 한국균학회소식:학술대회논문집
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• 한국균학회 2015년도 춘계학술대회 및 임시총회
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• pp.53-53
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• 2015

Agrobacterium tumefaciens-mediated transformation(ATMT) of Flammulina velutipes was used to produce a diverse number of transformants to discover the functions of gene that is vital for its variation color, spore pattern and cellulolytic activity. Futhermore, the transformant pool will be used as a good genetic resource for studying gene functions. Agrobacterium-mediated transformation was conducted in order to generate intentional mutants of F. velutipes strain KACC42777. Then Agrobacterium tumefaciens AGL-1 harboring pBGgHg was transformed into F. velutipes. This method is use to determine the functional gene of F. velutipes. Inverse PCR was used to insert T-DNA into the tagged chromosomal DNA segments and conducting sequence analysis of the F. velutipes. But this experiment had trouble in diverse morphological mutants because of dikaryotic nature of mushroom. It needed to make monokaryotic fruiting varients which introduced genes of compatible mating types. In this study, next generation sequencing data was generated from 28 strains of Flammulina velutipes with different phenotypes using Illumina Hiseq platform. Filtered short reads were initially aligned to the reference genome (KACC42780) to construct a SNP matrix. And then we built a phylogenetic tree based on the validated SNPs. The inferred tree represented that white- and brown- fruitbody forming strains were generally separated although three brown strains, 4103, 4028, and 4195, were grouped with white ones. This topological relationship was consistently reappeared even when we used randomly selected SNPs. Group I containing 4062, 4148, and 4195 strains and group II containing 4188, 4190, and 4194 strains formed early-divergent lineages with robust nodal supports, suggesting that they are independent groups from the members in main clades. To elucidate the distinction between white-fruitbody forming strains isolated from Korea and Japan, phylogenetic analysis was performed using their SNP data with group I members as outgroup. However, no significant genetic variation was noticed in this study. A total of 28 strains of Flammulina velutipes were analyzed to identify the genomic regions responsible for producing white-fruiting body. NGS data was yielded by using Illumina Hiseq platform. Short reads were filtered by quality score and read length were mapped on the reference genome (KACC42780). Between the white- and brown fruitbody forming strains. There is a high possibility that SNPs can be detected among the white strains as homozygous because white phenotype is recessive in F. velutipes. Thus, we constructed SNP matrix within 8 white strains. SNPs discovered between mono3 and mono19, the parental monokaryotic strains of 4210 strain (white), were excluded from the candidate. If the genotypes of SNPs detected between white and brown strains were identical with those in mono3 and mono19 strains, they were included in candidate as a priority. As a result, if more than 5 candidates SNPs were localized in single gene, we regarded as they are possibly related to the white color. In F. velutipes genome, chr01, chr04, chr07,chr11 regions were identified to be associated with white fruitbody forming. White and Brown Fruitbody strains can be used as an identification marker for F. veluipes. We can develop some molecular markers to identify colored strains and discriminate national white varieties against Japanese ones.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.110-116
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• 2021

Microdeletions of chromosome 22q11.2 are one of the most common microdeletions occurring in humans, and is known to be associated with a wide range of highly variable features. These deletions occur within a cluster of low copy repeats (LCRs) in 22q11.2, referred to as LCR22 A-H. DiGeorge (DGS)/velocardiofacial syndrome is the most prevalent form of a 22q11.2 deletions, caused by mainly proximal deletions between LCR22 A and D. As deletions of distal portion to the DGS deleted regions has been extensively studied, the recurrent distal 22q11.2 microdeletions distinct from DGS has been suggested as several clinical entities according to the various in size and position of the deletions on LCRs. We report a case of long-term follow-up of a female diagnosed with a 22q11.2 distal deletion syndrome, identified a deletion of 1.9 Mb at 22q11.21q11.23 (chr22: 21,798,906-23,653,963) using single nucleotide polymorphism array. This region was categorized as distal deletion type of 22q11.2, involving LCR22 D-F. She was born as a preterm, low birth weight to healthy non-consanguineous Korean parents. She showed developmental delay, growth retardation, dysmorphic facial features, and mild skeletal deformities. The patient underwent a growth hormone administration due to growth impairment without catch-up growth. While a height gain was noted, she had become overweight and was subsequently diagnosed with pre-diabetes. Our case could help broaden the genetic and clinical spectrum of 22q11.2 distal deletions.

• Bulletin of the Korean Chemical Society
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• 제11권1호
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• pp.49-54
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• 1990

The gas-phase thermolysis reactions of ${\alpha}$- and ${\beta}$-methylated ethyl formates, Y = $CH-X-CHR_1CH_2R_2$ where X = Y = O or S and $R_1\;=\;R_2$ = H or $CH_3$, are investigated theoretically using the AM1 method. The experimental reactivity order is reproduced correctly by AM1 in all cases. The thermolysis proceeds through a six-membered cyclic transition state conforming to a retro-ene reaction, which can be conveniently interpreted using the frontier orbital theory of three-species interactions. The methyl group substituted at $C_{\alpha}\;or\;C_{\beta}$ is shown to elevate the ${\pi}$-HOMO of the donor fragment (Y = C) and depress the ${\sigma}^{\ast}$-LUMO of the acceptor fragment ($C_{\beta}$-H), increasing the nucleophilicity of Y toward ${\beta}$-hydrogen which in turn increases the reactivity. The two bond breaking processes of the $C_{\alpha}$-X and $C_{\beta}$-H bonds are concerted but not synchronous so that the reaction takes place in two stages as Taylor suggested. The initial cleavage of $C_{\alpha}$-X is of little importance but the subsequent scission of $C_{\beta}$-H occurs in a rate determining stage.