• Title/Summary/Keyword: tandem repeat

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Enhancer Function of MicroRNA-3681 Derived from Long Terminal Repeats Represses the Activity of Variable Number Tandem Repeats in the 3' UTR of SHISA7

  • Lee, Hee-Eun;Park, Sang-Je;Huh, Jae-Won;Imai, Hiroo;Kim, Heui-Soo
    • Molecules and Cells
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    • v.43 no.7
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    • pp.607-618
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    • 2020
  • microRNAs (miRNAs) are non-coding RNA molecules involved in the regulation of gene expression. miRNAs inhibit gene expression by binding to the 3' untranslated region (UTR) of their target gene. miRNAs can originate from transposable elements (TEs), which comprise approximately half of the eukaryotic genome and one type of TE, called the long terminal repeat (LTR) is found in class of retrotransposons. Amongst the miRNAs derived from LTR, hsa-miR-3681 was chosen and analyzed using bioinformatics tools and experimental analysis. Studies on hsa-miR-3681 have been scarce and this study provides the relative expression analysis of hsa-miR-3681-5p from humans, chimpanzees, crab-eating monkeys, and mice. Luciferase assay for hsa-miR-3681-5p and its target gene SHISA7 supports our hypothesis that the number of miRNA binding sites affects target gene expression. Especially, the variable number tandem repeat (VNTR) and hsa-miR-3681-5p share the binding sites in the 3' UTR of SHISA7, which leads the enhancer function of hsamiR-3681-5p to inhibit the activity of VNTR. In conclusion, hsa-miR-3681-5p acts as a super-enhancer and the enhancer function of hsa-miR-3681-5p acts as a repressor of VNTR activity in the 3' UTR of SHISA7.

Development and Applications of A Paternity and Kinship Analysis System Based on DNA Data (유전자 분석 자료에 의한 친자 및 혈연관계 분석시스템 개발 및 활용)

  • Koo, Kyo-Chan;Kim, Sun-Uk
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.16 no.10
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    • pp.6715-6721
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    • 2015
  • Recently, DNA data of missing person, killed person, and missing child continue to increase but most of statistical calculation for paternity confirmation is being done through manual methods or Excel. Therefore, we need development of a software which is able to facilitate both systematic management and effective analysis of Short Tandem Repeat (STR) derived from DNA data. Without extensive testing, through a twenty-month study was developed a web-based system which performs paternity analysis and kinship analysis easily based on the various options. The former uses an existing algorithm for paternity index and the latter does Identity by descent (IBD) formula. Due to our system validated over real datasets in terms of likelihood ratio and probability of paternity, it ensures increased reliability as well as effective management and analysis of DNA data in mass disaster. In addition, it includes advanced features such as an integrated environment, user-centered interface, process automation and so on.

Analysis of Tandem Repeats in the Promoter Region of iNOS Gene in Korean Genome

  • Kim, Sun-Ji;Yoo, Min
    • Biomedical Science Letters
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    • v.14 no.2
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    • pp.127-130
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    • 2008
  • To investigate if there are tandem repeats in iNOS gene in Korean genome we applied PCR amplification followed by DNA sequencing. Tandem repeats we were looking at were (AAAT)n in the promoter region. Totally, 65 people were subjected for this experiment. Twenty of them were patients with metabolic disease. Only $(AAAT)_4$ was found in all of these Korean samples. This result was somewhat different trom the data for Caucasians and other Asian people. So, we assume this is specific VNTR (variable number of tandem repeat) in Korean which can be used for the purpose of diagnosis and for the differentiation of ethnic groups.

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Association of Thymidylate Synthase 5'-UTR 28bp Tandem Repeat and Serine Hydroxymethyltransfarase C1420T Polymorphisms with Susceptibility to Acute Leukemia

  • Dunna, Nageswara Rao;Naushad, Shaik Mohammad;Vuree, Sugunakar;Anuradha, Cingeetham;Sailaja, Kagita;Surekha, Damineni;Rao, Digumarti Raghunadha;Vishnupriya, Satti
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.4
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    • pp.1719-1723
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    • 2014
  • Background: The current study was aimed to elucidate the association of thymidylate synthase (TYMS) 5'-UTR 28bp tandem repeat and cytosolic serine hydroxymethyltransferase (cSHMT) C1420T polymorphisms with acute leukemia in South Indian subjects. A total of 812 subjects [523 healthy controls, 148 acute lymphoblastic leukemia (ALL) cases and 141 acute myeloid leukemia (AML) cases] were screened for TYMS 5'-UTR 28bp tandem repeat and cSHMT C1420T using PCR-AFLP and PCR-with confronting two-pair primers (CTPP) approaches. TYMS 5'-UTR 2R allele frequencies of controls, ALL and AML cases were 35.3%, 28.0% and 30.1% respectively. This polymorphism conferred protection against ALL (OR: 0.71, 95%CI: 0.53-0.96) while showing no statistically significant association with AML (OR: 0.79, 95%CI: 0.58, 1.07). The cSHMT variant allele (T-) frequencies of ALL and AML cases (6.42% and 5.68% respectively) were significantly lower compared to controls (58.3%). This polymorphism conferred protection against ALL (OR: 0.049, 95%CI: 0.029-0.081) and AML (OR: 0.043, 95%CI: 0.025-0.074). The TYMS 5'-UTR 2R2R genotype was associated with a lower total leukocyte count, smaller percentage of blasts, and more adequate platelet count compared to 2R3R and 3R3R genotypes in ALL cases. No such genotype-dependent differences were observed in AML cases. ALL cases carrying the cSHMT C1420T polymorphism showed higher disease free survival compared to those with the wild genotype. To conclude, the TYMS 5'-UTR 28bp tandem repeat reduces risk for ALL while cSHMT C1420T reduces risk for both ALL and AML. Both also influence disease progression in ALL.