• Title/Summary/Keyword: Chromosome Number

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Loss of Expression and Aberrant Methylation of the CDH1 (E-cadherin) Gene in Breast Cancer Patients from Kashmir

  • Asiaf, Asia;Ahmad, Shiekh Tanveer;Aziz, Sheikh Aejaz;Malik, Ajaz Ahmad;Rasool, Zubaida;Masood, Akbar;Zargar, Mohammad Afzal
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.15
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    • pp.6397-6403
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    • 2014
  • Background: Aberrant promoter hypermethylation has been recognized in human breast carcinogenesis as a frequent molecular alteration associated with the loss of expression of a number of key regulatory genes and may serve as a biomarker. The E-cadherin gene (CDH1), mapping at chromosome 16q22, is an intercellular adhesion molecule in epithelial cells, which plays an important role in establishing and maintaining intercellular connections. The aim of our study was to assess the methylation pattern of CDH1 and to correlate it with the expression of E-cadherin, clinicopathological parameters and hormone receptor status in breast cancer patients of Kashmir. Materials and Methods: Methylation specific PCR (MSP) was used to determine the methylation status of CDH1 in 128 invasive ductal carcinomas (IDCs) paired with the corresponding normal tissue samples. Immunohistochemistry was used to study the expression of E-cadherin, ER and PR. Results: CDH1 hypermethylation was detected in 57.8% of cases and 14.8% of normal adjacent controls. Reduced levels of E-cadherin protein were observed in 71.9% of our samples. Loss of E-cadherin expression was significantly associated with the CDH1 promoter region methylation (p<0.05, OR=3.48, CI: 1.55-7.79). Hypermethylation of CDH1 was significantly associated with age at diagnosis (p=0.030), tumor size (p=0.008), tumor grade (p=0.024) and rate of node positivity or metastasis (p=0.043). Conclusions: Our preliminary findings suggest that abnormal CDH1 methylation occurs in high frequencies in infiltrating breast cancers associated with a decrease in E-cadherin expression. We found significant differences in tumor-related CDH1 gene methylation patterns relevant to tumor grade, tumor size, nodal involvement and age at diagnosis of breast tumors, which could be extended in future to provide diagnostic and prognostic information.

Effect of Radiotherapy on Chromosomal Aberration in Cancer Patients (암환자에서 방사선치료에의한 염색체이상)

  • Chun, Ha-Chung;Lee, Myung-Za;Yoo, Myung-Soo
    • Radiation Oncology Journal
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    • v.11 no.1
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    • pp.43-50
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    • 1993
  • We evaluated frequency and types of chromosomal aberrations by ionizing radiation in cancer patients treated with radiotherapy in our institution. Twenty-five patients with various types of carcinomas such as lung, uterine cervix, esophagus, rectum, head and neck and pancreatic cancers were studied immediately before and after external beam radiotherapy. The frequency of aberrant metaphase prior to treatment was $4.93{\%}$, which was higher than that of control group. Especially in lung cancer, the freuqency of aberrant metaphase was three times higher than control group. A comparison of chromosomal abnormalities observed before and after radiotherapy demonstrated that proportion of aberrant rnetaphases was significantly inreased to $22.13{\%}$. Major chromosomal aberrations like structural abnormalities showed remarkalbe increase from 65.45 to $88.45{\%}$ after the treatment. Also the numbers of chromosomal alterations per cell were increased by a factor of 6.5. Aberrations with two or more break points were more prominently increased, compared with aberrations with single break point. The number of chromosomal break points was noted to be higher than expected value in No.1, 3, 8 and 11 chromosomes and lower in No.13, 15, 17 and 21 chromosomes. Based on this study, we believe that the distribution of chromosomal breakage is related with gene and chromosomal rearrangement which could result in the development of cancers.

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Identification of Major Blast Resistance Genes in Korean Rice Varieties(Oryza sativa L.) Using Molecular Markers

  • Cho, Young-Chan;Kwon, Soon-Wook;Choi, Im-Soo;Lee, Sang-Kyu;Jeon, Jong-Seong;Oh, Myung-Kyu;Roh, Jae-Hwan;Hwang, Hung-Goo;Yang, Sae-June;Kim, Yeon-Gyu
    • Journal of Crop Science and Biotechnology
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    • v.10 no.4
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    • pp.265-276
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    • 2007
  • The 13 major blast resistance(R) genes against Magnaporthe grisea were screened in a number of Korean rice varieties using molecular markers. Of the 98 rice varieties tested, 28 were found to contain the Pia gene originating from Japanese japonica rice genotypes. The Pib gene from BL1 and BL7 was incorporated into 39 Korean japonica varieties, whereas this same gene from the IRRI-bred indica varieties was detected in all Tongil-type varieties. We also found that 17 of the japonica varieties contained the Pii gene. The Pii gene in Korean rice varieties originates from the Korean japonica variety Nongbaeg, and Japanese japonica varieties Hitomebore, Inabawase, and Todorokiwase. The Pi5 gene, which clusters with Pii on chromosome 9, was identified only in Taebaeg. Thirty-four varieties were found to contain alleles of the resistance gene Pita or Pita-2. The Pita gene in japonica varieties was found to be inherited from the Japanese japonica genotype Shimokita, and the Pita-2 gene was from Fuji280 and Sadominori. Seventeen japonica and one Tongil-type varieties contained the Piz gene, which in the japonica varieties originates from Fukuhikari and 54BC-68. The Piz-t gene contained in three Tongil-type varieties was derived from IRRI-bred indica rice varieties. The Pi9(t) gene locus that is present in Korean japonica and Tongil-type varieties was not inherited from the original Pi9 gene from wild rice Oryza minuta. The Pik-multiple allele genes Pik, Pik-m, and Pik-p were identified in 24 of the varieties tested. In addition, the Pit gene inherited from the indica rice K59 strain was not found in any of the Korean japonica or Tongil-type varieties tested.

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Efficient Establishment of Presumptive Embryonic Stem Cells from Bovine Blastocysts by Exposure to Calcium Ionophore (Calcium Ionophore를 이용한 소 배반포로 부터의 배아주 유사세포의 효과적인 분리)

  • 김선욱;류재웅;이철상;한용만;박정선;유대열;이경광
    • Development and Reproduction
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    • v.3 no.1
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    • pp.45-51
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    • 1999
  • It is crucial to remove trophectoderm (TE) cells of blastocysts for an efficient isolation of pluripotent embryonic stem (ES)-like cells from bovine blastocysts. We evaluated the effectiveness of chemosurgery using calcium ionophore A23l87 (CIPA) by investigating the viability and pluripotency of ES-like cell lines isolated from in vitro-produced bovine blastocysts after CIPA treatment. The blastocysts treated with 50 $\mu$M CIPA for 25 min colonized most efficiently (51% of blastocysts) and developed to ES-like cell lines through 10 passages (4.8% of blastocysts) among CIPA-treated groups with different concentration and duration. In comparison with CIPA-untreated blastocysts, the colonization rate and overall viability of the CIPA-treated blastocysts were five times higher, suggesting that CIPA treatment condition defined in this study was highly efficient for establishing ES-like cell lines without apparent toxicity of CIPA. We evaluated in vitro pluripotency of the established three ES-like cell lines by examining alkaline phosphatase (AP) activity, capability of embryoid body formation, and chromosomal euploidity of the cells. Our cells showed a heterogeneous AP activity similarly to other reports. The cells were able to form simple embryoid bodies during suspension culture and majority of them showed a normal chromosome number of 60, the euploid chromosomal complement of bovine Therefore, our data suggest that CIPA treatment can be safely used for an efficient isolation of ES-like cell lines from bovine blastocysts.

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Comparison of Molecular Linkage Maps and QTLs for Morphological Traits in Two Reciprocal Backcross Populations of Rice

  • Qiao, Yongli;Jiang, Wenzhu;Rahman, Md Lutfor;Chu, Sang-Ho;Piao, Rihua;Han, Longzhi;Koh, Hee-Jong
    • Molecules and Cells
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    • v.25 no.3
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    • pp.417-427
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    • 2008
  • Comparison of maps and QTLs between populations may provide us with a better understanding of molecular maps and the inheritance of traits. We developed and used two reciprocal $BC_1F_1$ populations, IP/DS//IP and IP/DS//DS, for QTL analysis. DS (Dasanbyeo) is a Korean tongil-type cultivar (derived from an indica x japonica cross and similar to indica in its genetic make-up) and IP (Ilpumbyeo) is a Korean japonica cultivar. We constructed two molecular linkage maps corresponding to each backcross population using 196 markers for each map. The length of each chromosome was longer in the IP/DS//IP population than in the IP/DS//DS population, indicating that more recombinants were produced in the IP/DS//IP population. Distorted segregation was observed for 44 and 19 marker loci for the IP/DS//IP and IP/DS//DS populations, respectively; these were mostly skewed in favor of the indica alleles. A total of 36 main effect QTLs (M-QTLs) and 15 digenic epistatic interactions (E-QTLs) were detected for the seven traits investigated. The phenotypic variation explained (PVE) by M-QTLs ranged from 3.4% to 88.2%. Total PVE of the M-QTLs for each trait was significantly higher than that of the E-QTLs. The total number of M-QTLs identified in the IP/DS//IP population was higher than in the IP/DS//DS population. However, the total PVE by the M-QTLs and E-QTLs together for each trait was similar in the two populations, suggesting that the two $BC_1F_1$ populations are equally useful for QTL analysis. Maps and QTLs in the two populations were compared. Eleven new QTLs were identified for SN, SF, GL, and GW in this study, and they will be valuable in marker-assisted selection, particularly for improving grain traits in tongil-type varieties.

No Associations between Schizophrenia and D22S280 Marker on Synapsin III Gene in Korean Males (한국인 남자에서 Synapsin III 유전자의 D22S280 표지자와 정신분열병의 연합연구)

  • Lee, Yu-Sang;Park, Chong-Won;Lee, Seung-Yeoun;Lee, Suk-Jin;Park, Yong-Bum;Shin, Yoon-Sik;Yoo, Jang-Keun;Hong, Kyung Sue;Yang, Byung-Hwan
    • Korean Journal of Biological Psychiatry
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    • v.13 no.4
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    • pp.260-266
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    • 2006
  • Objectives : Synapsin III near VCFS region on chromosome 22q affects. It could be an interesting candidate gene for schizophrenia. D22S280 is a highly polymorphic genetic marker residing in synapsin III. We examined association of D22S280 marker on synapsin III with Korean patients with schizophrenia. Methods : The subjects were 46 male Korean patients with schizophrenia and 60 male normal controls. Using polymerase chain reaction, gel electrophoresis, ABI 310 genetic analyzer, and GeneScan Collection 3.1 software, we confirmed genotypes of D22S280 marker. We examined Hardy-Weinberg equilibrium and case-control association using SAS/Genetic 9.1.3. Results : Genotypes of both schizophrenia and control groups were in Hardy-Weinberg equilibrium. We could not find any significant statistical differences in allele-wise(${\chi}^2$=10.4, df=6, p=0.098) and genotype-wise (${\chi}^2$=22.1 df=19, p=0.258) analyses of D22S280 marker between schizophrenia and normal controls. Individual allele analyses with df=1 showed significant differences in A1(p=0.025) and A7(p=0.034) allele, which were not significant following Bonferroni corrections(A1:p=0.177, A7:p=0.235). Conclusion : We couldn't find any association between schizophrenia and the synapsin III gene. Given the small number of subjects studied, further investigations are needed.

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A New Rice Variety Developed from an Interspecific Cross, "Hwaweon 2" (종간교잡 유래 중생 다수성 벼 품종 "화원 2호")

  • Ahn, Sang-Nag;Song, Mi-Hee;Kim, Dong-Min;Oh, Chang-Sik;Kang, Ju-Won;Park, In-Kyu
    • Korean Journal of Breeding Science
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    • v.41 no.3
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    • pp.342-345
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    • 2009
  • "Hwaweon 2" was developed from an interspecific cross between Hwaseongbyeo and a wild species, Oryza rufipogon L. (IRGC 105491) based on marker-aided selection. The recurrent parent "Hwaseongbyeo" is a high grain quality cultivar with medium-maturity. Hwaweon 2 is nearly isogenic to Hwaseongbyeo except a small O. rufipogon introgression on chromosome 9. This segment was associated with genes controlling a number of traits including grain weight, heading date, culm length, and spikelets per panicle. The preliminary and replicated yield trial was conducted at Chungnam National University in 2004, 2005 and 2006. The local adaptability test was carried out by the National Seed Management Office (NSMO) in 2007 and 2008. This cultivar was registered to NSMO with a cultivar designated as "Hwaweon 2". This cultivar averaged 98cm in culm length and has a medium to late growth duration. This variety is resistant to stripe virus as the recurrent parent. Milled rice of "Hwaweon 2" is translucent and the grain quality traits are comparable to those of the recurrent parent. The yield potential of "Hwaweon 2" in grain is about 7.68 MT/ha at the ordinary fertilizer level about 14% higher than that of Hwaseongbyeo due to increase in grain weight and spikelets per panicle.

A reappraisal of Sambucus pendula Nakai on Ulleung Island and its allies (울릉도 말오줌나무와 근연종의 재검토)

  • Lim, Hyo-In;Chang, Kae Sun;Lee, Heung Soo;Chang, Chin-Sung;Kim, Hui
    • Korean Journal of Plant Taxonomy
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    • v.39 no.3
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    • pp.181-192
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    • 2009
  • Sambucus pendula Nakai, which is an endemic on Ulleung Island of Korea, is characterized by a large pendulous inflorescence and small fruit. A set of 256 individuals were used to investigate the patterns of intraspecific variation of S. racemosa subsp. kamtchatica, S. racemosa subsp. sieboldiana, and S. williamsii including S. pendula using PCA (principal components analysis). This analysis showed that S. pendula was distinct based on its large inflorescence and long peduncle. Our data showed a morphological distinction between subsp. kamtchatica from northeastern areas and subsp. sieboldiana from Jeju Island, but the two taxa overlap in the southern and eastern parts of Korea in terms of chromosome number, color of style, and allozyme data. Our study agrees that S. pendula on Ulleung Island may be the result of genetic drift that occurred during isolation since the Quarternary period. This has been suggested as a reason for the genetic differences observed between two taxa and would explain the unique variation patterns of S. pendula. However, the morphological differentiation between the S. racemosa complex and S. pendula is not considered sufficient to warrant recognition of specific status. Therefore, we recommend that only one polymorphic species of S. racemosa in Eurasia be recognized and that S. pendula be considered a subspecies of S. racemosa.

Fine mapping of rice bacterial leaf blight resistance loci on K1 and K2 of Korean races of Xoo (Xanthomonas oryzae) using GWAS analysis

  • Hyeon, Do-Yun;Lee, Jeong-Ro;Jo, Gyu-Taek;Raveendar, Sebastin;Sin, Myeong-Jae;Lee, Gyeong-Jun
    • Proceedings of the Plant Resources Society of Korea Conference
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    • 2019.04a
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    • pp.62-62
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    • 2019
  • Bacterial leaf blight(BLB), caused by X. oryzae pv. oryzae(Xoo), is one of the most destructive diseases of rice due to its high epidemic potential. Understanding BLB resistance at a genetic level is important to further improve the rice breeding that provides one of the best approaches to control BLB disease. In the present investigation, a collection of 192 accessions was used in the genome-wide association study (GWAS) for BLB resistance loci against four Korean races of Xoo that were represented by the prevailing BLB isolates under Xoo differential system. A total of 192 accessions of rice germplasm were selected on the basis of the bioassay using four isolated races of Xoo such as K1 and K2. The selected accessions was used to prepare 384-plex genotyping by sequencing (GBS) libraries and Illumina HiSeq 2000 pairedend read was used for GBS sequencing. GWAS was conducted using TASSEL 5.0. The TASSEL program uses a mixed linear model (MLM). The results of the bioassay using a selected set of 192 accessions showed that a large number of accessions (93.75%) were resistant to K1 race and K2 resistant germplasm proportion remained between 66.67. The genotypic data produced SNP matrix for a total of 293,379 SNPs. After imputation the missing data was removed, which exhibited 34,724 SNPs for association analysis. GWAS results showed strong signals of association at a threshold of [-log10(P-value)] more than 5 (K1 and K2) for nine of the 39 SNPs, which are plausible candidate loci of resistance genes. These SNP loci were positioned on rice chromosome 2, 9, and 11 for K1 and K2 races. The significant loci detected have also been illustrated and make the CPAS markers for NBS-LRR type disease resistance protein, SNARE domain containing protein, Histone deacetylase 19, NADP-dependent oxidoreductase, and other expressed and unknown proteins. Our results provide a better understanding of the distribution of genetic variation of BLB resistance to Korean pathogen races and breeding of resistant rice.

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A genome-wide association study for the fatty acid composition of breast meat in an F2 crossbred chicken population

  • Eunjin Cho;Minjun Kim;Sunghyun Cho;Hee-Jin So;Ki-Teak Lee;Jihye Cha;Daehyeok Jin;Jun Heon Lee
    • Journal of Animal Science and Technology
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    • v.65 no.4
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    • pp.735-747
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    • 2023
  • The composition of fatty acids determines the flavor and quality of meat. Flavor compounds are generated during the cooking process by the decomposition of volatile fatty acids via lipid oxidation. A number of research on candidate genes related to fatty acid content in livestock species have been published. The majority of these studies focused on pigs and cattle; the association between fatty acid composition and meat quality in chickens has rarely been reported. Therefore, this study investigated candidate genes associated with fatty acid composition in chickens. A genome-wide association study (GWAS) was performed on 767 individuals from an F2 crossbred population of Yeonsan Ogye and White Leghorn chickens. The Illumina chicken 60K significant single-nucleotide polymorphism (SNP) genotype data and 30 fatty acids (%) in the breast meat of animals slaughtered at 10 weeks of age were analyzed. SNPs were shown to be significant in 15 traits: C10:0, C14:0, C18:0, C18:1n-7, C18:1n-9, C18:2n-6, C20:0, C20:2, C20:3n-6, C20:4n-6, C20:5n-3, C24:0, C24:1n-9, monounsaturated fatty acids (MUFA) and polyunsaturated fatty acids (PUFA). These SNPs were mostly located on chromosome 10 and around the following genes: ACSS3, BTG1, MCEE, PPARGC1A, ACSL4, ELOVL4, CYB5R4, ME1, and TRPM1. Both oleic acid and arachidonic acid contained the candidate genes: MCEE and TRPM1. These two fatty acids are antagonistic to each other and have been identified as traits that contribute to the production of volatile fatty acids. The results of this study improve our understanding of the genetic mechanisms through which fatty acids in chicken affect the meat flavor.