• Title/Summary/Keyword: Human Elements

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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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Identification and Phylogeny of the Human Endogenous Retrovirus HERV-W LTR Family in Human Brain cDNA Library and Xq21.3 Region

  • KIM, HEUI-SOO;TIMOTHY J. CRO
    • Journal of Microbiology and Biotechnology
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    • v.12 no.3
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    • pp.508-513
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    • 2002
  • Human endogenous retroviral long terminal repeats (LTRs) have been found to be coexpressed with sequences of genes located nearby. It has been suggested that the LTR elements have contributed to the structural change or genetic variation of human genome connected to various diseases. The HERV-W family has been identified in the cerebrospinal fluids and brains of individuals with schizophrenia. Using a cDNA library derived from a human brain, the HERV-W LTR elements were examined and five new LTR elements were identified. These elements were examined using a YAC clone panel from the Xq21.3 region linked to psychosis that was replicated on the Y chromosome after the separation of the chimpanzee and human lineages. Fourteen elements of the HERV-W LTR were identified in that region. Those LTR elements showed a high degree of sequence similarity ($91.8-99.5\%$) with previously reported HERV-W LTR. A phylogenetic tree obtained from the neighbor-joining method revealed that new HERV-W LTR elements were closely related to the AXt000960, AF072504, and AF072506 from the GenBank database. The data indicates that several copy numbers of the HERV-W LTR elements exist on the Xq21.3 region and are also expressed in the human brain. These LTR elements need to be further investigated as potential leads to neuropsychiatric diseases.

The five elements of the cell

  • Chung, SunKu;Cha, Seongwon;Lee, Seo-Young;Park, Jung-Hyun;Lee, Siwoo
    • Integrative Medicine Research
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    • v.6 no.4
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    • pp.452-456
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    • 2017
  • Everything in the surrounding universe can be attributed into five elements. Human organs can be also linked to the five elements. Cells, the smallest unit of the human body, consist of cellular organelles as little organs. Here, we extended the concept of the five elements to a cellular level via the human organs, theoretically re-evaluating the overall association of cellular organelles in maintaining the homeostasis of cellular functions.

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.

Structural Variation of Alu Element and Human Disease

  • Kim, Songmi;Cho, Chun-Sung;Han, Kyudong;Lee, Jungnam
    • Genomics & Informatics
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    • v.14 no.3
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    • pp.70-77
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    • 2016
  • Transposable elements are one of major sources to cause genomic instability through various mechanisms including de novo insertion, insertion-mediated genomic deletion, and recombination-associated genomic deletion. Among them is Alu element which is the most abundant element, composing ~10% of the human genome. The element emerged in the primate genome 65 million years ago and has since propagated successfully in the human and non-human primate genomes. Alu element is a non-autonomous retrotransposon and therefore retrotransposed using L1-enzyme machinery. The 'master gene' model has been generally accepted to explain Alu element amplification in primate genomes. According to the model, different subfamilies of Alu elements are created by mutations on the master gene and most Alu elements are amplified from the hyperactive master genes. Alu element is frequently involved in genomic rearrangements in the human genome due to its abundance and sequence identity between them. The genomic rearrangements caused by Alu elements could lead to genetic disorders such as hereditary disease, blood disorder, and neurological disorder. In fact, Alu elements are associated with approximately 0.1% of human genetic disorders. The first part of this review discusses mechanisms of Alu amplification and diversity among different Alu subfamilies. The second part discusses the particular role of Alu elements in generating genomic rearrangements as well as human genetic disorders.

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.

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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Phylogenetic Analysis of HERV-K LTR Family in Human Chromosome Xq26 and New World Monkeys

  • Kim, Heui-Soo;Park, Joo-Young;Lee, Won-Ho;Jang, Kyung-Lib;Park, Won-Hyuck;Moon, Doo-Ho;Osamu Takenaka;Hyun, Byung-Hwa
    • Journal of Life Science
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    • v.10 no.1
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    • pp.32-36
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    • 2000
  • Solitary long terminal repeats(LTRs) of human endogenous retrovirus K family(HERV-K) have been found to be coexpressed with sequences of closely located genes. It has been suggested that HERV-K LTR-like elements entered the primate genome approximately 33-40 million years ago. WE investigated the presence of HERV-K LTR elements in New World monkeys using PCR amplification. Six LTR elements of HERV-K family were identified from New World monkeys, represented by the squirrel and night monkeys. They showed a high degree of sequence homology(96-99%) with the human-specific HERV-K LTR elements. Phylogenetic analysis reveals that an LTR element (SM-1) from the squirrel monkey and another LTR element (NM-1) from the night monkey are very closely related to the human-specific HERV-K LTR elements with low degree of divergence. This finding suggests that some of LTR elements of HERV-K family have recently been proliferated in New World monkeys. A sequence in chromosome Xq26(AL034407) \ulcorner contains an HERV-K LTR element was shown to be present in the human genome, but is absent in the bonobo, chimpanzee, gorilla, orangutan, and gibbon. It has more than 99% homology to other human-specific HERV-K LTR elements. This sequence thus represents and isolated insertion of an evolving class of elements that may have made a particular contribution to human genomic plasticity.

A Comparative Study of Digital and Analogue System Environment to Retrieve Human Factor Elements for the Design of Operator Console (운전원 콘솔의 인간공학적 설계요소 추출을 위한 디지털과 아날로그 시스템 환경의 비교연구)

  • Cha, Woo-Chang
    • Journal of Korean Society of Industrial and Systems Engineering
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    • v.32 no.2
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    • pp.140-146
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    • 2009
  • Since the computer technology has been drastically developed and broadly employed for the design of human machine system, human system interface was somehow digitalized. Actually the operator's working environment employing the digital devices are not be fully digitalized due to its technical constraints so that it has been changed to the hybrid environment which has a combination of digital and analog elements. The hybrid environments need to study its characteristics and the guidelines for the proper design and evaluation purpose. This paper describes the human factor design elements of the console operated under hybrid environment through studying the characteristics of digital and analog environment based on the related human factor guidelines and literatures. The result of this paper implies the contribution to the evaluation of the generic human working environment which digital and analog elements are jointly used.

Application of fuzzy measure and fuzzy integrals model to evaluation of human interface

  • Sohn, Young-Sun;Onisawa, Takehisa
    • 제어로봇시스템학회:학술대회논문집
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    • 1997.10a
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    • pp.787-790
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    • 1997
  • This paper proposes a method which selects essential elements in a human evaluation model using the Choquet integral based on fuzzy measures, and applies the model to the evaluation of human interface. Three kinds of concepts are defined to select essential elements. Increment Degree implies the increment degree from fuzzy measures of composed elements to the fuzzy measure of a combined element. Average of Increment Degree of an element means the relative possibility of superadditivity of the fuzzy measure of each combined element. Necessity Degree means the selection degree of each combined element as a result of the human evaluation. A task experiment, which consists of a static work and two dynamic works, is performed by the use of some human interfaces. In the experiment, (1) a warning sound which gives an attention to subjects, (2) a color vision which can be distinguished easily or not, (3) the size of working area and (4) a response of confirmation that is given from an interface, are considered as human interface elements. Subjects answer the questionnaire after the experiment. From the data of the questionnaire, fuzzy measures are identified and are applied to the proposed model. Effectiveness of the proposed model is confirmed by the comparison of human interface elements extracted from the proposed model and those from the questionnaire.

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