• Title/Summary/Keyword: Chromosome 1

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Structural Optimization for Improvement of Thermal Conductivity of Woven Fabric Composites (열전도도 향상을 위한 직물섬유 복합재의 최적구조 설계)

  • Kim, Myungsoo;Sung, Dae Han;Park, Young-Bin;Park, Kiwon
    • Composites Research
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    • v.30 no.1
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    • pp.26-34
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    • 2017
  • This research presents studies on an improved method to predict the thermal conductivity of woven fabric composites, the effects of geometric structures of woven fabric composites on thermal conductivity, and structural optimization to improve the thermal conductivity using a genetic algorithm. The geometric structures of woven fabric composites were constructed numerically using the information generated on waviness, thickness, and width of fill and warp tows. Thermal conductivities of the composites were obtained using a thermal-electrical analogy. In the genetic algorithm, the chromosome string consisted of thickness and width of the fill and warp tows, and the objective function was the maximum thermal conductivity of woven fabric composites. The results confirmed that an improved method to predict the thermal conductivity was built successfully, and the inter-tow gap effect on the composite's thermal conductivity was analyzed suggesting that thermal conductivity of woven fabric composites was reduced as the gap between tows increased. For structural design, optimized structures for improving the thermal conductivity were analyzed and proposed. Generally, axial thermal conductivity of the fiber tow contributed more to thermal conductivity of woven fabric composites than transverse thermal conductivity of the tows.

Long-term follow-up of Fanconi anemia: clinical manifestation and treatment outcome

  • Yoon, Byung Gyu;Kim, Hee Na;Han, Ui Joung;Jang, Hae In;Han, Dong Kyun;Baek, Hee Jo;Hwang, Tai Ju;Kook, Hoon
    • Clinical and Experimental Pediatrics
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    • v.57 no.3
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    • pp.125-134
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    • 2014
  • Purpose: The aim of this study was to characterize Korean patients with Fanconi anemia (FA), which is a rare but very challenging genetic disease. Methods: The medical records of 12 FA patients diagnosed at Chonnam National University Hospital from 1991 to 2012 were retrospectively reviewed. Results: The median age at diagnosis was 6.2 years. All patients showed evidence of marrow failure and one or more physical stigmata. Chromosome breakage tests were positive in 9 out of 11 available patients. The median follow-up duration was 69.5 months. The Kaplan-Meier (KM) survival of all patients was 83.3% at 10 years and 34.7% at 20 years, respectively. Seven patients underwent 9 stem cell transplantations (SCTs). Among them, 5 were alive by the end of the study. Ten-year KM survival after SCT was 71.4% with a median follow-up of 3.4 years. All 5 patients treated with supportive treatment alone died of infection or progression at the median age of 13.5 years, except for one with short followup duration. Acute leukemia developed in 2 patients at 15.4 and 18.1 years of age. Among 6 patients who are still alive, 3 had short stature and 1 developed insulin-dependent diabetes mellitus. Conclusion: We provide information on the long-term outcomes of FA patients in Korea. A nation-wide FA registry that includes information of the genotypes of Korean patients is required to further characterize ethnic differences and provide the best standard of care for FA patients.

Genome-wide association study reveals genetic loci and candidate genes for average daily gain in Duroc pigs

  • Quan, Jianping;Ding, Rongrong;Wang, Xingwang;Yang, Ming;Yang, Yang;Zheng, Enqin;Gu, Ting;Cai, Gengyuan;Wu, Zhenfang;Liu, Dewu;Yang, Jie
    • Asian-Australasian Journal of Animal Sciences
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    • v.31 no.4
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    • pp.480-488
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    • 2018
  • Objective: Average daily gain (ADG) is an important target trait of pig breeding programs. We aimed to identify single nucleotide polymorphisms (SNPs) and genomic regions that are associated with ADG in the Duroc pig population. Methods: We performed a genome-wide association study involving 390 Duroc boars and by using the PorcineSNP60K Beadchip and two linear models. Results: After quality control, we detected 3,5971 SNPs, which included seven SNPs that are significantly associated with the ADG of pigs. We identified six quantitative trait loci (QTL) regions for ADG. These QTLs included four previously reported QTLs on Sus scrofa chromosome (SSC) 1, SSC5, SSC9, and SSC13, as well as two novel QTLs on SSC6 and SSC16. In addition, we selected six candidate genes (general transcription factor 3C polypeptide 5, high mobility group AT-hook 2, nicotinamide phosphoribosyltransferase, oligodendrocyte transcription factor 1, pleckstrin homology and RhoGEF domain containing G4B, and ENSSSCG00000031548) associated with ADG on the basis of their physiological roles and positional information. These candidate genes are involved in skeletal muscle cell differentiation, diet-induced obesity, and nervous system development. Conclusion: This study contributes to the identification of the casual mutation that underlies QTLs associated with ADG and to future pig breeding programs based on marker-assisted selection. Further studies are needed to elucidate the role of the identified candidate genes in the physiological processes involved in ADG regulation.

UNDERSTANDING OF EPIGENETICS AND DNA METHYLATION (인간 게놈의 Copy Number Variation과 유전자 질환)

  • Oh, Jung-Hwan;Nishimura, Ichiro
    • Maxillofacial Plastic and Reconstructive Surgery
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    • v.30 no.2
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    • pp.205-212
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    • 2008
  • Genetic variation in the human genome occurs on various levels; from the single nucleotide polymorphism to large, microscopically visible chromosome anomalies. It can be present in many forms, including variable number of tandem repeat (VNTRs; e.g., mini- and microsatellites), presence/absence of transposable elements (e.g., Alu elements), single nucleotide polymorphisms, and structural alterations (e.g., copy number variation, segmental duplication, inversion, translocation). Until recently SNPs were thought to be the main source of genetic and phenotypic human variation. However, the use of methods such as array comparative genomic hybridization (array CGH) and fluorescence in situ hybridization (FISH) have revealed the presence of copy number variations(CNVs) ranging from kilobases (kb) to megabases (Mb) in the human genome. There is great interest in the possibility that CNVs playa role in the etiology of common disease such as HIV-1/AIDS, diabetes, autoimmune disease, heart disease and cancer. The discovery of widespread copy number variation in human provides insights into genetic variability among populations and provides a foundation for studies of the contribution of CNVs to evolution and disease.

ZNF552, a novel human KRAB/C2H2 zinc finger protein, inhibits AP-1- and SRE-mediated transcriptional activity

  • Deng, Yun;Liu, Bisheng;Fan, Xiongwei;Wang, Yuequn;Tang, Ming;Mo, Xiaoyang;Li, Yongqing;Ying, Zaochu;Wan, Yongqi;Luo, Na;Zhou, Junmei;Wu, Xiushan;Yuan, Wuzhou
    • BMB Reports
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    • v.43 no.3
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    • pp.193-198
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    • 2010
  • In this study, we report the identification and characterization of a novel C2H2 zinc finger protein, ZNF552, from a human embryonic heart cDNA library. ZNF552 is composed of three exons and two introns and maps to chromosome 19q13.43. The cDNA of ZNF552 is 2.3 kb, encoding 407 amino acids with an amino-terminal KRAB domain and seven carboxyl-terminal C2H2 zinc finger motifs in the nucleus and cytoplasm. Northern blotting analysis indicated that a 2.3 kb transcript specific for ZNF552 was expressed in liver, lung, spleen, testis and kidney, especially with a higher level in the lung and testis in human adult tissues. Reporter gene assays showed that ZNF552 was a transcriptional repressor, and overexpression of ZNF552 in the COS-7 cells inhibited the transcriptional activities of AP-1 and SRE, which could be relieved through RNAi analysis. Deletion studies showed that the KRAB domain of ZNF552 may be involved in this inhibition.

Downstream Genes Regulated by Bcl2l10 RNAi in the Mouse Oocytes

  • Kim, Eun-Ah;Kim, Kyeoung-Hwa;Lee, Hyun-Seo;Lee, Su-Yeon;Kim, Eun-Young;Seo, You-Mi;Bae, Jee-Hyeon;Lee, Kyung-Ah
    • Development and Reproduction
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    • v.15 no.1
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    • pp.61-69
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    • 2011
  • Previously, we have shown that Bcl2l10 as a member of Bcl-2 family, key regulators of the apoptotic process, is dominantly expressed in oocytes of ovary but several member of the Bcl-2 family are not expressed in oocytes. Recent our studies had been processed about roles and regulatory mechanisms of Bcl2l10 in oocytes. Microinjection of Bcl2l10 RNAi into the cytoplasm of germinal vesicle oocytes resulted in metaphase I (MI) arrest and exhibited abnormalities in their spindles and chromosome configurations (Yoon et al., 2009). The present study was conducted to elucidate the downstream genes regulated by Bcl2l10 and signaling networks in Bcl2l10 RNAi microinjected oocytes by using microarray analysis. Surprisingly, we found that a large proportion of genes regulated by Bcl2l10 RNAi were involved in the cell cycle and actin skeletal system regulation as important upstream genes of Bcl2l10. Among the transcripts with highly significant fold changes more than 2-fold, Tpx2 and Cep192 are 16.1- and 8.2-fold down regulated respectively by Bcl2l10 RNAi. Tpx2 and Cep192 are known as cofactors that control Aurora A kinase activity and localization. Therefore, we concluded that Bcl2l10 may have important roles during oocyte meiosis as functional upstream regulator of Tpx2 and Cep192.

Association of Single Nucleotide Polymorphism (SNP) in the PGK 2 Gene with Growth Traits in Pigs (돼지 PGK 2 유전자의 단일염기다형성 및 성장 형질과의 연관성 구명)

  • Jang, Hong-Chul;Kim, Sang-Wook;Lim, Da-Jeong;Kim, Jae-Young;Cho, Kyu-Ho;Kim, Myung-Jick;Lee, Ji-Woong;Choi, Bong-Hwan;Kim, Tae-Hun
    • Journal of Animal Science and Technology
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    • v.53 no.1
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    • pp.15-22
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    • 2011
  • The purpose of this study was to analyse of association between growth traits and single nucleotide polymorphisms (SNPs) polymorphism of phosphoglycerate kinase 2 (PGK 2) gene in pigs. The birth weight of piglet influences on weaning weight and survival rate that are import economic traits in pig industry. Also, these growth traits are representative factor to decrease a period getting to marketing weight as well as growth rate in pig. The PGK 2 is an isozyme that catalyzes the first ATP-generating step in the glycolytic pathwayand important enzyme related with energy metabolism. Twenty of SNPs were discoveredby genome structure analysis that compares the sequence on promoter and transcription region of PGK 2 gene in porcine chromosome 7. An association between PGK 2 SNPs and growth traits was analyzed in $F_2$ reciprocal-crossbred population between korean native pig (KNP) and Landrace. Association analysis indicated that polymorphism of the PGK 2 gene promoter region has significant effects on weight at birth (p<0.01) and weight at 3 weeks of age (p<0.0001). These results suggest that PGK 2 gene polymorphism was associated with energy metabolism and physiological function of growth in pig.

Rediscovery of haploid breeding in the genomics era (유전체 시대에 반수체 육종의 재발견)

  • Lee, Seulki;Kim, Jung Sun;Kang, Sang-Ho;Sohn, Seong-Han;Won, So Youn
    • Journal of Plant Biotechnology
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    • v.43 no.1
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    • pp.12-20
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    • 2016
  • Advances in DNA sequencing technologies have contributed to revolutionary understanding of many fundamental biological processes. With unprecedented cost-effective and high-throughput sequencing, a single laboratory can afford to de novo sequence the whole genome for species of interest. In addition, population genetic studies have been remarkably accelerated by numerous molecular markers identified from unbiased genome-wide sequences of population samples. As sequencing technologies have evolved very rapidly, acquiring appropriate individual plants or populations is a major bottleneck in plant research considering the complex nature of plant genome, such as heterozygosity, repetitiveness, and polyploidy. This challenge could be overcome by the old but effective method known as haploid induction. Haploid plants containing half of their sporophytic chromosomes can be rapidly generated mainly by culturing gametophytic cells such as ovules or pollens. Subsequent chromosome doubling in haploid plants can generate stable doubled haploid (DH) with perfect homozygosity. Here, classical methodology to generate and identify haploid plants or DH are summarized. In addition, haploid induction by epigenetic regulation of centromeric histone is explained. Furthermore, the utilization of haploid plant in the genomics era is discussed in the aspect of genome sequencing project and population genetic studies.

Identification of Genes Involved in Decolorization of Crystal Violet and Malachite Green in Citrobacter sp. (Citrobacter sp.에서 crystal violet와 malachite green 색소분해에 관여하는 유전자들의 동정)

  • Lee, Young-Mi;Jang, Moon-Sun;Kim, Seok-Jo;Park, Yong-Lark;Cho, Young-Su;Lee, Young-Choon
    • Journal of Life Science
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    • v.14 no.1
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    • pp.21-25
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    • 2004
  • To identify genes involved in the decolorization of both crystal violet and malachite green, we isolated random mutants generated by transposon insertion in triphenylmethane-decolorizing bacterium, Citrobacter sp. The resulting mutant bank yielded 14 mutants with complete defect in color removal capability of both crystal violet and malachite green. Southern hybridization with a Tn5 fragment as a probe showed a single hybridized band in 5 mutants and these mutants appeared to have insertions at different sites of the chromosome. Tn5-inserted genes were isolated and the DNA sequence flanking Tn5 was determined. From comparison with a sequence database, putative protein products encoded by cmg genes were identified as follows. cmg 2 is MaIC protein in maltose transport system; cmg 6 is transcriptional regulator (LysR-type): cmg 12 is a putative oxidoreductase. The sequences deduced from two cmg genes, cmg 8 and cmg 11, showed no significant similarity to any protein with a known function. Therefore, these results indicate that these two cmg genes encode unidentified proteins responsible for decolorization of both crystal violet and malachite green.

Correlation Between p53 and p21 Proteins Expression and Prognostic Factors Related with Colon Cancer

  • Kim, Tai-Jeon;Kim, Tae-Geun
    • Korean Journal of Clinical Laboratory Science
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    • v.39 no.2
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    • pp.128-135
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    • 2007
  • This study was designed to investigate the correlation between the expression rate of p53 and p21 proteins by immunohistochemical staining and tumor prognostic factors including the tumor size, histological differentiation and Dukes' stage of tumor prognostic factors in colon cancer, and to acquire necessary data for the presumption of diagnosis, treatment and prognosis of colon cancer patients. From January 2000 to January 2003 at Hanyang University Guri Hospital, the paraffin blocks of 35 patients diagnosed with colon cancer whose pathologic reports were possible to review were selected. Harris hematoxylin & eosin (H&E) staining and immunohistochemical staining by ABC (Avidin Biotin Conjugate) method were performed. The histological differentiation grade and stage were classified according to the classification of the World Health Organization (WHO) and modified Dukes's stage from H&E staining. The expression rate of p53 and p21 proteins were analyzed by immunohistochemical staining. The results was analyzed statistically by SPSS (Windows version 8.0). As a result, the expression rate of p53 protein was 11.4% (4 cases) in clear differentiation, 48.6% (17 cases) in moderate differentiation, and 17.1% (6 cases) in poor differentiation. In other words, the poorer the differentiation, the higher the expression rate of p53 protein (p<0.05). The expression rate of p21 was 17.1% (6 cases) in clear differentiation, 40.0%(14 cases) in moderate differentiation, and 8.6% (3 cases) in poor differentiation, According to the progression of histological malignant degeneration, the expression rate of p21 protein decreased distinctively (p<0.05). However, the correlation between the two above mentioned proteins and the tumor-size and Dukes' stage was not of statistical significance. In the comparison of the expression rate of p53 protein with that of p21 protein, in 10 cases, p53 protein expression was positive while p21 protein expression was negative, and in 6 cases, p53 protein expression was negative whereas p21 protein expression was positive. Consequently a statistically significant inverse correlation between the expression rate of p53 protein and that of p21 protein was observed (p<0.05). In conclusion, we found a significant correlation between histological differentiation and the expression rate of p53 and p21 proteins (p<0.05), and a significant inverse correlation between the expression rate of p53 protein and that of p21 protein (p<0.05). Also, it could be confirmed that the over expression of p53 and p21 proteins is closely associated with the occurrence of colon cancer and its progress. Therefore, it is thought that this study may be greatly beneficial to the presumption of diagnosis, treatment and prognosis of colon cancer patients.

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