• Journal of Life Science
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• v.10 no.2
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• pp.12-13
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• 2000

A human-specific retroposon SINE-R.C2 has been derived from a human endogenous retrovirus HER V-K 10. It is absent in the genome of nonhuman primates and present within the third intron of the human C2 gene that is located in the class III region of the major histocompatibility complex. In the present study, we determined the regional location of the human C2 gene. The analysis of the Genebridge 4 radiation hybrid mapping panel using PCR amplification located the C2 gene between D6S1422 (10.1 cR) and CHLC.GATA4A03 (21.3) with a lod score of>3.0. This allowed us to localize C2 gene on the human chromosome 6 band p21.31.

• Journal of Life Science
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• v.11 no.2
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• pp.81-82
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• 2001

The human ribosomal protein 54 genes, RPS4X and RPS4Y are located on the X and Y chromosomes. They have been postulated as candidate for Turner syndrome which was characterized by gonadal dysgenesis, short stature, and various external and internal anomalies. Using the BLAST search program, we identified sixteen RPS4 pseudogenes from the human genome and analyzed them phylogenetically. The RPS4-C12-1, C12-2, and C12-3 pseudogenes from chromosome 12 have been evolved independently during hominid evolution. The RPS4X gene from X chromosome it closely related to the RPS4-C12-2 from chromosome 12 and RPS4-C5 from chromosome 5, whereas the RPS4Y gene is very closely related to RPS4-C16 from chromosome 16. The exact mapping of the RPS4 pseudogene family was peformed, indicating that the RPS4 pseudogene family was mapped on human chromosomes 1, 2, 5, 6, 8, 10, 11, 12, 13, 16, 18, 19 and 20. Taken together, the precise chromosomal localization and phylegenetic relationship of the RPS4 pseudo-genes could be of great use in further study for understanding the Turner syndrome.

• Mass Spectrometry Letters
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• v.12 no.3
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• pp.60-65
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• 2021

As a part of the Chromosome-centric Human Proteome Project (C-HPP), we have developed a few algorithms for accurate identification of missing proteins, alternative splicing variants, single amino acid variants, and characterization of function unannotated proteins. We have found missing proteins, novel and known ASVs, and SAAVs using LC-MS/MS data from human brain and olfactory epithelial tissue, where we validated their existence using synthetic peptides. According to the neXtProt database, the number of missing proteins in chromosome 11 shows a decreasing pattern. The development of genomic and transcriptomic sequencing techniques make the number of protein variants in chromosome 11 tremendously increase. We developed a web solution named as SAAvpedia for identification and function annotation of SAAVs, and the SAAV information is automatically transformed into the neXtProt web page using REST API service. For the 73 uPE1 in chromosome 11, we have studied the function annotaion of CCDC90B (NX_Q9GZT6), SMAP (NX_O00193), and C11orf52 (NX_Q96A22).

• Molecules and Cells
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• v.22 no.3
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• pp.360-363
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• 2006

Human endogenous retroviruses (HERVs) contribute to various kinds of genomic instability via rearrangement and retrotransposition events. In the present study the formation of a new human-specific solo-LTR belonging to the HERV-H family (AP001667; chromosome 21q21) was detected by a comparative analysis of human chromosome 21 and chimpanzee chromosome 22. The solo-LTR was formed as a result of an equal homologous recombination excision event. Several evolutionary processes have occurred at this locus during primate evolution, indicating that mammalian-wide interspersed repeat (MIR) and full-length HERV-H elements integrated into hominoid genomes after the divergence of Old World monkeys and hominoids, and that the solo-LTR element was created by recombination excision of the HERV-H only in the human genome.

• Journal of the Korea Computer Industry Society
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• v.2 no.8
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• pp.1045-1054
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• 2001

To improve classification accuracy in this paper, we proposed an algorithm for the chromosome image reconstruction in the image preprocessing part and also proposed the pattern classification method using the hierarchical multilayer neural network(HMNN) to classify the chromosome karyotype. It reconstructed chromosome images for twenty normal human chromosome by the image reconstruction algorithm. The four morphological and ten density feature parameters were extracted from the 920 reconstructed chromosome images. The each combined feature parameters of ten human chromosome images were used to learn HMNN and the rest of them were used to classify the chromosome images. The experimental results in this paper were composed to optimized HMNN and also obtained about 98.26％ to recognition ratio.

• Proceedings of the KOSOMBE Conference
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• v.1997 no.11
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• pp.133-136
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• 1997

The human chromosome analysis is widely used to diagnose genetic disease and various congenital anomalies. Many researches on automated chromosome karyotype analysis has been carried out, some of which produced commercial systems. However, there still remains much room or improving the accuracy of chromosome classification. In this paper, We propose an optimal pattern classifier by neural network to improve the accuracy of chromosome classification. The proposed pattern classifier was built up of multi-step multi-layer neural network(MMANN). We reconstructed chromosome image to improve the chromosome classification accuracy and extracted three morphological features parameters such as centromeric index(C.I.), relative length ratio(R.L.), and relative area ratio(R.A.). This Parameters employed as input in neural network by preprocessing twenty human chromosome images. The experiment results show that the chromosome classification error is reduced much more than that of the other classification methods.

• Journal of Institute of Control, Robotics and Systems
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• v.9 no.10
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• pp.844-851
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• 2003

We introduces a development result of semi-automatic karyotyping system using image processing method to improve a long time working of the manual method and 5% error of traditional automatic karyotying system for analyzing karyotying. The karyotyping procedures have many routine tasks such as searching metaphases, taking pictures, developing, editing, etc. There are several automatic karyotyping systems in order to reduce the task in advanced countries. However, they are very expensive, applicable to only human chromosome, and have too many functions to use easily. This paper takes aim at high quality image resolution and development of interface that can adjust brightness and contrast of image on-line. The system can be applied to animal and plants as well as human's chromosome. The system developed in this paper is applied to pig and human. The effectiveness of the system is proved by hospitals in Korea.

• Journal of Environmental Health Sciences
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• v.17 no.1
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• pp.110-119
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• 1991

This study was performed to investigate the applicability of 9 chromosome aberration and sister chromatid exchange analysis for the assessment of cytotoxicity and cytogenetic effects of cadmium. Induction of chromosome aberration and sister chromatid exchange in CHO-K1 cells and human peripheral lymphocytes by 2 hour-treatment of CdCl$_{2}$ with various concentrations was observed in relation to their frequencies and types of aberration. The frequency of chromosome aberration in CHO cells treated with CdCl$+{2}$ at G$_{1}$ was increased with dose-dependent manner. When human peripheral lymphocytes were treated with cadmium at G0 and harvested at 72 hours there after, the response was dose-dependent and all the aberrations were also chromatid types. There was no significant increase in frequencies of sister chromatid exchange in both CHO cells and human lymphocytes treated with different concentrations of cadmium. It was suggested that SCE analysis was not a good assessment method for cadmium toxicity.

• The Korean Journal of Zoology
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• v.37 no.4
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• pp.437-477
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• 1994

The DNA replication of human Iyrnphocvtes was studied using Bromodeo3fyuridine incorporation. The characteristic patterns of dvnamlc banding were analysed. Human chromosomal ONA was synthesized in a segmental but highly coordinated fashion. Each chromosome replicates according to its innate pattern of chromosome structure (bandinsl. R-positive bands are demonstrated as the initiation sites of DNA synthesis, and G-bnads initiate replication after it has been completed in the autosomal R-bands. Many researchers demonstrated that developmental or induced methvlation of DNA can inactivate the associated gene loci. Such DNA methylation can be reversed and specific genes reactivated by treatment with 5-azacvtidine. We treated the hvpomethvlating agent 5-azacvtidine and tested for changes of DNA replication pattern. Treatment with 5-azacytidine causes an advance in the time of replication. These observed changes in timing of replication suggest that DNA methvlation may modify regional groups of genes in concert.

• Development and Reproduction
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• v.15 no.3
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• pp.187-195
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• 2011

X chromosome inactivation (XCI) is a process that enables mammalian females to ensure the dosage compensation for X-linked genes. Investigating the mechanism of XCI might provide deeper understandings of chromosomal silencing, epigenetic regulation of gene expressions, and even the course of evolution. Studies on mammalian XCI conducted with mice have revealed many fundamental findings on XCI. However, difference of murine and human XCI necessitates the further investigation in human XCI. Recent success in reprogramming of differentiated cells into pluripotent stem cells showed the reversibility of XCI in vitro, X chromosome reactivation (XCR), which provides another tool to study the change in X chromosome status. This review summarizes the current knowledge of XCI during early embryonic development and describes recent achievements in studies of XCI in reprogramming process.