• Title/Summary/Keyword: Genetics Informatics

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Interplay between Epigenetics and Genetics in Cancer

  • Choi, Jae Duk;Lee, Jong-Soo
    • Genomics & Informatics
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    • v.11 no.4
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    • pp.164-173
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    • 2013
  • Genomic instability, which occurs through both genetic mechanisms (underlying inheritable phenotypic variations caused by DNA sequence-dependent alterations, such as mutation, deletion, insertion, inversion, translocation, and chromosomal aneuploidy) and epigenomic aberrations (underlying inheritable phenotypic variations caused by DNA sequence-independent alterations caused by a change of chromatin structure, such as DNA methylation and histone modifications), is known to promote tumorigenesis and tumor progression. Mechanisms involve both genomic instability and epigenomic aberrations that lose or gain the function of genes that impinge on tumor suppression/prevention or oncogenesis. Growing evidence points to an epigenome-wide disruption that involves large-scale DNA hypomethylation but specific hyper-methylation of tumor suppressor genes, large blocks of aberrant histone modifications, and abnormal miRNA expression profile. Emerging molecular details regarding the modulation of these epigenetic events in cancer are used to illustrate the alterations of epigenetic molecules, and their consequent malfunctions could contribute to cancer biology. More recently, intriguing evidence supporting that genetic and epigenetic mechanisms are not separate events in cancer has been emerging; they intertwine and take advantage of each other during tumorigenesis. In addition, we discuss the collusion between epigenetics and genetics mediated by heterochromatin protein 1, a major component of heterochromatin, in order to maintain genome integrity.

ON THE DIFFUSION PROCESSES AND THEIR APPLICATIONS IN POPULATION GENETICS

  • Choi, Won;Lee, Byung-Kwon
    • Journal of applied mathematics & informatics
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    • v.15 no.1_2
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    • pp.415-423
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    • 2004
  • In allelic model X = ($x_1,\;x_2,...x_{d}$), $M_f(t)$= f(p(t)) - ${{\int}^{t}}_0$Lf(p(t))ds is a P-martingale for diffusion operator L under the certain conditions. In this note, we can show uniqueness of martingale problem associated with mean vector and obtain a complete description of ergodic property by using of the semigroup method.

ON THE MARTINGALE PROBLEM AND SYMMETRIC DIFFUSION IN POPULATION GENETICS

  • Choi, Won;Joung, Yoo-Jung
    • Journal of applied mathematics & informatics
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    • v.28 no.3_4
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    • pp.1003-1008
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    • 2010
  • In allelic model $X\;=\;(x_1,\;x_2,\;\cdots,\;x_d)$, $$M_f(t)\;=\;f(p(t))\;-\;\int_0^t\;Lf(p(t))ds$$ is a P-martingale for diffusion operator L under the certain conditions. In this note, we define $T_tf\;=\;E_{p_0}^{p^*}\;[f((P(t))]$ for $t\;{\geq}\;0$ for using a new diffusion operator $L^*$ and we show the diffusion relations between $T_t$ and diffusion operator $L^*$.

SOME SYMMETRY PRESERVING TRANSFORMATION IN POPULATION GENETICS

  • Choi, Won
    • Journal of applied mathematics & informatics
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    • v.27 no.3_4
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    • pp.757-762
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    • 2009
  • In allelic model $X\;=\;(x_1,\;x_2,\;{\cdots},\;x_d)$, $$M_f(t)\;=\;f(p(t))\;-\;{\int}^t_0\;Lf(p(t))ds$$ is a P-martingale for diffusion operator L under the certain conditions. We can also obtain a new diffusion operator $L^*$ for diffusion coefficient and we prove that unique solution for $L^*$-martingale problem exists. In this note, we define new symmetric preserving transformation. Uniqueness for martingale problem and symmetric property will be proved.

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Direct-to-consumer genetic testing

  • Kim, Jong-Won
    • Genomics & Informatics
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    • v.17 no.3
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    • pp.34.1-34.3
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    • 2019
  • Direct-to-consumer (DTC) genetic testing is a controversial issue although Korean Government is considering to expand DTC genetic testing. Preventing the exaggeration and abusing of DTC genetic testing is an important task considering the early history of DTC genetic testing in Korea. And the DTC genetic testing performance or method has been rarely reported to the scientific and/or medical community and reliability of DTC genetic testing needs to be assessed. Law enforcement needs to improve these issues. Also principle of transparency needs to be applied.

Overview of frequent pattern mining

  • Jurg Ott;Taesung Park
    • Genomics & Informatics
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    • v.20 no.4
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    • pp.39.1-39.9
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    • 2022
  • Various methods of frequent pattern mining have been applied to genetic problems, specifically, to the combined association of two genotypes (a genotype pattern, or diplotype) at different DNA variants with disease. These methods have the ability to come up with a selection of genotype patterns that are more common in affected than unaffected individuals, and the assessment of statistical significance for these selected patterns poses some unique problems, which are briefly outlined here.

Antimicrobial Properties of Glass Surface Functionalized with Silver-doped Terminal-alkynyl Monolayers

  • Tahir, Muhammad Nazir;Jeong, Daham;Kim, Hwanhee;Yu, Jae-Hyuk;Cho, Eunae;Jung, Seunho
    • Bulletin of the Korean Chemical Society
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    • v.35 no.1
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    • pp.39-44
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    • 2014
  • Glass discs functionalized with alkynyl (GDA) terminated monolayers were prepared and incubated in $AgNO_3$ solution (GDA-Ag). The modified functional glass surfaces were characterized by X-ray photoelectron microscopy (XPS). The potential of GDA and GDA-Ag as antimicrobial surfaces was investigated. Anti-microbial efficacies of GDA against Escherichia coli, Pseudomonas aeruginosa, Staphylococcus aureus, Bacillus cereus, and Candida albicans was relatively low ranging from 4.67 to 17.00%. However, the GDA-Ag was very effective and its antimicrobial efficacy ranged from 99.90 to 99.99% against the same set of microbial strains except for C. albicans where it was 95.50%. The durability of the Ag bonded to the terminal alkynyl groups was studied by placing the GDA-Ag in PBS buffer solution (pH 7.4) for two weeks. Initially, the silver release was relatively fast, with 40.05 ppb of silver released in first 24 h followed by a very slow and constant release. To study the potential of GDA-Ag for medical applications, in vitro cytotoxicity of GDA-Ag against Human Embryonic Kidney 293 (HEK293) cell lines was studied using WST-assay. The cytotoxicity of the GDA-Ag was very low (5%) and was almost comparable to the control (blank glass disc) indicating that GDA-Ag has a promising potential for medical applications.

Isolation and Biological Properties of Novel Cell Cycle Inhibitor, HY558, Isolated from Penicillium minioluteum F558

  • Lee, Chul-Hoon;Lim, Hae-Young;Kim, Min-Kyoung;Cho, Youl-Hee;Oh, Deok-Kun;Kim, Chang-Jin;Lim, Yoon-Gho
    • Journal of Microbiology and Biotechnology
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    • v.12 no.3
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    • pp.470-475
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    • 2002
  • In the course of screening for a novel cell cycle inhibitor, a potent Cdk 1 inhibitor, HY558, was found from the culture broth of Penicillium minioluteum F558 isolated from a soil sample. The molecular ion of HY558 was identified at m/z 329 (MH+) with a molecular formula of $C_20H_44ON_2$. HY558 exhibited selective antiproliferative effects on various human cancer cell lines. Its $IC_50$ values were estimated to be 0.29 mM on HepG2, 0.30 mM on HeLa, 0.30 mM on HL6O, 0.33 mM on HT-29, and 0.25 mM on AGS cells. Interestingly, Hy558 demonstrated no antiproliferative effect with normal lymphocytes used as the control, and a low level of inhibition on the proliferation of A549 cancer cells. A flow cytometric analysis of HepG2 cells revealed an appreciable arrest of cells at the G1 and G2/M phases of the cell cycle following treatment with Hy558. furthermore, DNA fragmentation due to apoptosis was observed in HeLa cells treated with 0.46 mM of HY558.

Statistical Genetic Studies on Cattle Breeding for Dairy Productivity in Bangladesh: I. Genetic Improvement for Milk Performance of Local Cattle Populations

  • Hossain, K.B.;Takayanagi, S.;Miyake, T.;Moriya, K.;Bhuiyan, A.K.F.H.;Sasaki, Y.
    • Asian-Australasian Journal of Animal Sciences
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    • v.15 no.5
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    • pp.627-632
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    • 2002
  • Genetic parameters for dairy performance traits were estimated, breeding values for the traits of all breeding sires and cows were predicted and the genetic trends were estimated using the breeding values in the Central Cattle Breeding Station (CCBS). A total of 3,801 records for Bangladeshi Local, 756 records for Red Sindhi and 959 records for Sahiwal covering the period from 1961 to 1997 were used in this analysis. Traits considered were total milk production per lactation (TLP), lactation length (LL) and daily milk yield (DMY). The genetic parameters were estimated by the REML using MTDFREML program. The breeding values were predicted by a best linear unbiased prediction (BLUP). In all sets of data, the genetic trends for the dairy performance traits were computed as averages of breeding values for cows born in the particular year. The estimates of heritability for TLP (0.26 and 0.27) and DMY (0.28 and 0.27) were moderate in Bangladeshi local and Red Sindhi breed, respectively. Furthermore, the heritability estimate for LL (0.24) was moderate in Red Sindhi. The estimates of heritabilities for all traits were low in Sahiwal. The repeatability estimate was high for TLP, moderate for LL and moderate to high for DMY. All variances estimated in Bangladeshi Local were low, comparing the respective values estimated in both Red Sindhi and Sahiwal. On the other hand, additive genetic variances for the three traits were estimated very low in Sahiwal. The genetic trends for the three dairy production traits have not been positive except for the recent trend in Bangladeshi Local.

Chromosome-specific polymorphic SSR markers in tropical eucalypt species using low coverage whole genome sequences: systematic characterization and validation

  • Patturaj, Maheswari;Munusamy, Aiswarya;Kannan, Nithishkumar;Kandasamy, Ulaganathan;Ramasamy, Yasodha
    • Genomics & Informatics
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    • v.19 no.3
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    • pp.33.1-33.10
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    • 2021
  • Eucalyptus is one of the major plantation species with wide variety of industrial uses. Polymorphic and informative simple sequence repeats (SSRs) have broad range of applications in genetic analysis. In this study, two individuals of Eucalyptus tereticornis (ET217 and ET86), one individual each from E. camaldulensis (EC17) and E. grandis (EG9) were subjected to whole genome resequencing. Low coverage (10×) genome sequencing was used to find polymorphic SSRs between the individuals. Average number of SSR loci identified was 95,513 and the density of SSRs per Mb was from 157.39 in EG9 to 155.08 in EC17. Among all the SSRs detected, the most abundant repeat motifs were di-nucleotide (59.6%-62.5%), followed by tri- (23.7%-27.2%), tetra- (5.2%-5.6%), penta- (5.0%-5.3%), and hexa-nucleotide (2.7%-2.9%). The predominant SSR motif units were AG/CT and AAG/TTC. Computational genome analysis predicted the SSR length variations between the individuals and identified the gene functions of SSR containing sequences. Selected subset of polymorphic markers was validated in a full-sib family of eucalypts. Additionally, genome-wide characterization of single nucleotide polymorphisms, InDels and transcriptional regulators were carried out. These variations will find their utility in genome-wide association studies as well as understanding of molecular mechanisms involved in key economic traits. The genomic resources generated in this study would provide an impetus to integrate genomics in marker-trait associations and breeding of tropical eucalypts.