• Title/Summary/Keyword: human repeat

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REPEATOME: A Database for Repeat Element Comparative Analysis in Human and Chimpanzee

  • Woo, Tae-Ha;Hong, Tae-Hui;Kim, Sang-Soo;Chung, Won-Hyong;Kang, Hyo-Jin;Kim, Chang-Bae;Seo, Jung-Min
    • Genomics & Informatics
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    • v.5 no.4
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    • pp.179-187
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    • 2007
  • An increasing number of primate genomes are being sequenced. A direct comparison of repeat elements in human genes and their corresponding chimpanzee orthologs will not only give information on their evolution, but also shed light on the major evolutionary events that shaped our species. We have developed REPEATOME to enable visualization and subsequent comparisons of human and chimpanzee repeat elements. REPEATOME (http://www.repeatome.org/) provides easy access to a complete repeat element map of the human genome, as well as repeat element-associated information. It provides a convenient and effective way to access the repeat elements within or spanning the functional regions in human and chimpanzee genome sequences. REPEATOME includes information to compare repeat elements and gene structures of human genes and their counterparts in chimpanzee. This database can be accessed using comparative search options such as intersection, union, and difference to find lineage-specific or common repeat elements. REPEATOME allows researchers to perform visualization and comparative analysis of repeat elements in human and chimpanzee.

NMR Study on the Preferential Binding of the Zα Domain of Human ADAR1 to CG-repeat DNA Duplex

  • Lee, Ae-Ree;Choi, Seo-Ree;Seo, Yeo-Jin;Lee, Joon-Hwa
    • Journal of the Korean Magnetic Resonance Society
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    • v.21 no.3
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    • pp.90-95
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    • 2017
  • The Z-DNA domain of human ADAR1 ($Z{\alpha}_{ADAR1}$) produces B-Z junction DNA through preferential binding to the CG-repeat segment and destabilizing the neighboring AT-rich region. However, this study could not answer the question of how many base-pairs in AT-rich region are destabilized by binding of $Z{\alpha}_{ADAR1}$. Thus, we have performed NMR experiments of $Z{\alpha}_{ADAR1}$ to the longer DNA duplex containing an 8-base-paired (8-bp) CG-repeat segment and a 12-bp AT-rich region. This study revealed that $Z{\alpha}_{ADAR1}$ preferentially binds to the CG-repeat segment rather than AT-rich region in a long DNA and then destabilizes at least 6 base-pairs in the neighboring AT-rich region for efficient B-Z transition of the CG-repeat segment.

PCR-based genotyping of Korean population for forensic applications

  • Ryu, Jae-Song;Gu, Yun-Mo;So, Jae-Seong
    • 한국생물공학회:학술대회논문집
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    • 2000.04a
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    • pp.592-595
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    • 2000
  • In human chromosome, a short sequence of DNA has been repeated a number of times. These repeats are called variable number of tandem repeat(VNTR) or short tandem repeat(STR) which has short repeat core. VNTR and STR are used in the field of forensic science, evolution, and anthropology. In this work, we examined allele frequencies of 3 VNTR(YNZ22, NeuR, D21S11) and one STR(Humth01) in a Korean population sample by polymerase chain reaction(PCR) followed by high-resolution polyacrylamide gelelectrophoresis(PAGE) with silver staining. Subsequently, the polymorphism information content(PIC) was calculated : the highest PIC was observed for the NeuR locus(0.95680) and lowest for the Humth01 locus(0.75809).

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Identification and Phylogenetic Analysis of Long Terminal Repeat Elements of the Human Endogenous Retrovirus K Family (HERV-K) from a Human Brain cDNA Library

  • Kim, Heui-Soo;Lee, Young-Choon
    • Animal cells and systems
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    • v.5 no.2
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    • pp.133-137
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    • 2001
  • Long terminal repeats (LTRs) of the human endogenous retrovirus K family (HERV-K) have been found to be coexpressed with sequences of genes closely located nearby. We examined transcribed HERV-K LTR elements in human brain tissue. Using cDNA synthesized from mRNA of the human brain, we performed PCR amplification and identified ten HERV-K LTR elements. These LTR elements showed a high degree of sequence similarity (92.4-99.7%) with the human-specific LTR elements. A phylogenetic tree obtained by the neighbor-joining method revealed that HERV-K LTR elements could be divided into two groups through evolutionary divergence. Some HERV-K LTR elements (HKL-B7, HKL-B8, HKL-B10) belonging to the group II from human brain cDNA were closely related to the human-specific HERV-K LTR elements. Our data suggest that HERV-K LTR element are active in the human brain; they could conceivably play a pathogenic role in human diseases such as psychosis.

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Z-DNA-Containing Long Terminal Repeats of Human Endogenous Retrovirus Families Provide Alternative Promoters for Human Functional Genes

  • Lee, Du Hyeong;Bae, Woo Hyeon;Ha, Hongseok;Park, Eun Gyung;Lee, Yun Ju;Kim, Woo Ryung;Kim, Heui-Soo
    • Molecules and Cells
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    • v.45 no.8
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    • pp.522-530
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    • 2022
  • Transposable elements (TEs) account for approximately 45% of the human genome. TEs have proliferated randomly and integrated into functional genes during hominoid radiation. They appear as right-handed B-DNA double helices and slightly elongated left-handed Z-DNAs. Human endogenous retrovirus (HERV) families are widely distributed in human chromosomes at a ratio of 8%. They contain a 5'-long terminal repeat (LTR)-gag-pol-env-3'-LTR structure. LTRs contain the U3 enhancer and promoter region, transcribed R region, and U5 region. LTRs can influence host gene expression by acting as regulatory elements. In this review, we describe the alternative promoters derived from LTR elements that overlap Z-DNA by comparing Z-hunt and DeepZ data for human functional genes. We also present evidence showing the regulatory activity of LTR elements containing Z-DNA in GSDML. Taken together, the regulatory activity of LTR elements with Z-DNA allows us to understand gene function in relation to various human diseases.

PCR Analysis of Four Length-Polmorphic Loci in Korea Population for Genotyping

  • Ryu, Jae-Song;Koo, Yoon-Mo;So, Jae-Seong
    • Biotechnology and Bioprocess Engineering:BBE
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    • v.5 no.3
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    • pp.169-173
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    • 2000
  • On human chromoscomes, a short sequence of DNA is known to repeat a number of times. These are called variable number of tandem repeat (VNTR) or short tandem respeat (STR) which has a short core. VNTR and STR are used in the filed of forensic science, evolution, and anthropology. In this work, we examined allele frequencies of one VNTR (YNZ22) and three STRs (NeuR, D21S11, Humth01) in a korean population sample by polymerase chain reaction (RCP) followed by high-resolution polyacrylamide gel electro-phoresis (PAGE) with silver stain. Subsequently, the polymorphism information content (PIC) was calculated : the hifhest PIC was observed in the NeuR locus (0.95680) and lowest in the Humth01 locus (0.75809).

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Long Terminal Repeat of an Endogenous Retrovirus HERV-K Family from Human Liver and Kidney cDNA

  • Kim, Heui-Soo;Choi, Joo-Young;Lee, Joo-Mi;Jeon, Seung-Heui;Lee, Young-Choon;Lee, Won-Ho;Jang, Kyung-Lib
    • Journal of Life Science
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    • v.10 no.2
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    • pp.45-49
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    • 2000
  • Long terminal repeat (LTR) of human endogenous retrovirus K family (HERV-K) has been found to be coexpressed with sequences of closely located genes. We examined the transcribed HERV-K LTR elements in human liver and kidney tissues. Using the cDNA synthesized from mRNA of human liver and kidney, we performed PCR amplification and identified six HERV-K LTR elements. Those LTR elements showed a high degree of sequence similarity (93.3∼96.6%) with human-specific LTR. A phylogenetic tree obtained by the neighbor-joining method revealed that HERV-K LTR elements (Liv-1, 2, 3 and Kid-1, 2, 3) were belonged to group I. Our data suggests that HERV-K LTR elements are active on human liver and kidney tissues and may represent a source of genetic variation connected to human disease.

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Molecular Characterization of the HERV-W Env Gene in Humans and Primates: Expression, FISH, Phylogeny, and Evolution

  • Kim, Heui-Soo;Kim, Dae-Soo;Huh, Jae-Won;Ahn, Kung;Yi, Joo-Mi;Lee, Ja-Rang;Hirai, Hirohisa
    • Molecules and Cells
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    • v.26 no.1
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    • pp.53-60
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    • 2008
  • We characterized the human endogenous retrovirus (HERV-W) family in humans and primates. In silico expression data indicated that 22 complete HERV-W families from human chromosomes 1-3, 5-8, 10-12, 15, 19, and X are randomly expressed in various tissues. Quantitative real-time RT-PCR analysis of the HERV-W env gene derived from human chromosome 7q21.2 indicated predominant expression in the human placenta. Several copies of repeat sequences (SINE, LINE, LTR, simple repeat) were detected within the complete or processed pseudo HERV-W of the human, chimpanzee, and rhesus monkey. Compared to other regions (5'LTR, Gag, Gag-Pol, Env, 3'LTR), the repeat family has been mainly integrated into the region spanning the 5'LTRs of Gag (1398 bp) and Pol (3242 bp). FISH detected the HERV-W probe (fosWE1) derived from a gorilla fosmid library in the metaphase chromosomes of all primates (five hominoids, three Old World monkeys, two New World monkeys, and one prosimian), but not in Tupaia. This finding was supported by molecular clock and phylogeny data using the divergence values of the complete HERV-W LTR elements. The data suggested that the HERV-W family was integrated into the primate genome approximately 63 million years (Myr) ago, and evolved independently during the course of primate radiation.

Automatic Vowel Sequence Reproduction for a Talking Robot Based on PARCOR Coefficient Template Matching

  • Vo, Nhu Thanh;Sawada, Hideyuki
    • IEIE Transactions on Smart Processing and Computing
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    • v.5 no.3
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    • pp.215-221
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    • 2016
  • This paper describes an automatic vowel sequence reproduction system for a talking robot built to reproduce the human voice based on the working behavior of the human articulatory system. A sound analysis system is developed to record a sentence spoken by a human (mainly vowel sequences in the Japanese language) and to then analyze that sentence to give the correct command packet so the talking robot can repeat it. An algorithm based on a short-time energy method is developed to separate and count sound phonemes. A matching template using partial correlation coefficients (PARCOR) is applied to detect a voice in the talking robot's database similar to the spoken voice. Combining the sound separation and counting the result with the detection of vowels in human speech, the talking robot can reproduce a vowel sequence similar to the one spoken by the human. Two tests to verify the working behavior of the robot are performed. The results of the tests indicate that the robot can repeat a sequence of vowels spoken by a human with an average success rate of more than 60%.

Validation of Reduced-volume Reaction in the PowerQuant® System for human DNA Quantification

  • Kim, Hyojeong;Cho, Yoonjung;Kim, Jeongyong;Lee, Ja Hyun;Kim, Hyo Sook;Kim, Eungsoo
    • Biomedical Science Letters
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    • v.26 no.4
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    • pp.275-287
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    • 2020
  • Since its introduction in the forensic field, quantitative PCR (qPCR) has played an essential role in DNA analysis. Quality of DNA should be evaluated before short tandem repeat (STR) profiling to obtain reliable results and reduce unnecessary costs. To this end, various human DNA quantification kits have been developed. Among these kits, the PowerQunat® System was designed not only to determine the total amount of human DNA and human male DNA from a forensic evidence item, but also to offer data about degradation of DNA samples. However, a crucial limitation of the PowerQunat® System is its high cost. Therefore, to minimize the cost of DNA quantification, we evaluated kit performance using a reduced volume of reagents (1/2-volume) using DNA samples of varying types and concentrations. Our results demonstrated that the low-volume method has almost comparable performance to the manufacturer's method for human DNA quantification, human male DNA quantification, and DNA degradation index. Furthermore, using a reduced volume of regents, it is possible to run 2 times more reactions per kit. We expect the proposed low-volume method to cut costs in half for laboratories dealing with large numbers of DNA samples.