• Title/Summary/Keyword: Deletions

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Genome-wide Examination of Chromosomal Aberrations in Neuroblastoma SH-SY5Y Cells by Array-based Comparative Genomic Hybridization

  • Do, Jin Hwan;Kim, In Su;Park, Tae-Kyu;Choi, Dong-Kug
    • Molecules and Cells
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    • v.24 no.1
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    • pp.105-112
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    • 2007
  • Most neuroblastoma cells have chromosomal aberrations such as gains, losses, amplifications and deletions of DNA. Conventional approaches like fluorescence in situ hybridization (FISH) or metaphase comparative genomic hybridization (CGH) can detect chromosomal aberrations, but their resolution is low. In this study we used array-based comparative genomic hybridization to identify the chromosomal aberrations in human neuroblastoma SH-SY5Y cells. The DNA microarray consisting of 4000 bacterial artificial chromosome (BAC) clones was able to detect chromosomal regions with aberrations. The SH-SY5Y cells showed chromosomal gains in 1q12~ q44 (Chr1:142188905-246084832), 7 (over the whole chro-mosome), 2p25.3~p16.3 (Chr2:18179-47899074), and 17q 21.32~q25.3 (Chr17:42153031-78607159), while chromosomal losses detected were the distal deletion of 1p36.33 (Chr1:552910-563807), 14q21.1~q21.3 (Chr14:37666271-47282550), and 22q13.1~q13.2 (Chr22:36885764-4190 7123). Except for the gain in 17q21 and the loss in 1p36, the other regions of gain or loss in SH-SY5Y cells were newly identified.

Construction of Infectious cDNA Clone of a Chrysanthemum stunt viroid Korean Isolate

  • Yoon, Ju-Yeon;Cho, In-Sook;Choi, Gug-Seoun;Choi, Seung-Kook
    • The Plant Pathology Journal
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    • v.30 no.1
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    • pp.68-74
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    • 2014
  • Chrysanthemum stunt viroid (CSVd), a noncoding infectious RNA molecule, causes seriously economic losses of chrysanthemum for 3 or 4 years after its first infection. Monomeric cDNA clones of CSVd isolate SK1 (CSVd-SK1) were constructed in the plasmids pGEM-T easy vector and pUC19 vector. Linear positive-sense transcripts synthesized in vitro from the full-length monomeric cDNA clones of CSVd-SK1 could infect systemically tomato seedlings and chrysanthemum plants, suggesting that the linear CSVd RNA transcribed from the cDNA clones could be replicated as efficiently as circular CSVd in host species. However, direct inoculation of plasmid cDNA clones containing full-length monomeric cDNA of CSVd-SK1 failed to infect tomato and chrysanthemum and linear negative-sense transcripts from the plasmid DNAs were not infectious in the two plant species. The cDNA sequences of progeny viroid in systemically infected tomato and chrysanthemum showed a few substitutions at a specific nucleotide position, but there were no deletions and insertions in the sequences of the CSVd progeny from tomato and chrysanthemum plants.

Phonological processes of consonants from orthographic to pronounced words in the Buckeye Corpus

  • Yang, Byunggon
    • Phonetics and Speech Sciences
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    • v.11 no.4
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    • pp.55-62
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    • 2019
  • This paper investigates the phonological processes of consonants in pronounced words in the Buckeye Corpus and compares the frequency distribution of these processes to provide a clearer understanding of conversational English for linguists and teachers. Both orthographic and pronounced words were extracted from the transcribed label scripts of the Buckeye Corpus. Next, the phonological processes of consonants in the orthographic and pronounced labels were tabulated separately by onsets and codas, and a frequency distribution by consonant process types was examined. The results showed that the majority of the onset clusters were pronounced as the same sounds in the Buckeye Corpus. The participants in the corpus were presumed to speak semiformally. In addition, the onsets have fewer deletions than the codas, which might be related to the information weight of the syllable components. Moreover, there is a significant association and strong positive correlation between the phonological processes of the onsets and codas in men and women. This paper concludes that an analysis of phonological processes in spontaneous speech corpora can contribute to a practical understanding of spoken English. Further studies comparing the current phonological process data with those of other languages would be desirable to establish universal patterns in phonological processes.

A Plausible Method for the Diagnosis of Genetic Disorders Using Full Length cDNA

  • Hur, Hyang-Suk;Lee, Young-Won;Park, Hyoung-Woo;Kim, Myoung-Hee
    • Biomedical Science Letters
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    • v.7 no.1
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    • pp.1-5
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    • 2001
  • A cDNA of coagulation Factor IX gene has been screened from the $\lambda$gt11 human fetal liver cDNA library, and used to construct a 2.8-kb full length cDNA after recombining with the N-terminal fragment from pTZ-FIX. Human genomic DNA was isolated, digested with the restriction endonucleases, TaqI, EcoRI, and HindIII, and Southern hybridization was performed using the full length factor IX cDNA as a probe. The hybridized bands generated by the restriction endonucleases were the followings: TaqI, 0.3, 1.0, 1.6, 1.8, 2.7, 3.7, and 5.3 kb bands; EcoRI, 1.8, 4.8, 4.9, 5.5, 6.8, and 12.6 kb bands; HindIII, 4.1, 4.4, 5.2, 5.8, 7.6, and 12.5 kb bands. When the Southern bands were physically mapped along the genome, about 50-kb continuous region harboring almost all of the genomic region of Factor Ⅸ gene was covered. These results suggest a possibility of using an exonal cDNA probe to diagnose abnormalities including large deletions, insertions, and rearrangements along the genome, if there is any.

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CHARACTERIZATIONS OF PARTITION LATTICES

  • Yoon, Young-Jin
    • Bulletin of the Korean Mathematical Society
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    • v.31 no.2
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    • pp.237-242
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    • 1994
  • One of the most well-known geometric lattices is a partition lattice. Every upper interval of a partition lattice is a partition lattice. The whitney numbers of a partition lattices are the Stirling numbers, and the characteristic polynomial is a falling factorial. The set of partitions with a single non-trivial block containing a fixed element is a Boolean sublattice of modular elements, so the partition lattice is supersolvable in the sense of Stanley [6]. In this paper, we rephrase four results due to Heller[1] and Murty [4] in terms of matroids and give several characterizations of partition lattices. Our notation and terminology follow those in [8,9]. To clarify our terminology, let G, be a finte geometric lattice. If S is the set of points (or rank-one flats) in G, the lattice structure of G induces the structure of a (combinatorial) geometry, also denoted by G, on S. The size vertical bar G vertical bar of the geometry G is the number of points in G. Let T be subset of S. The deletion of T from G is the geometry on the point set S/T obtained by restricting G to the subset S/T. The contraction G/T of G by T is the geometry induced by the geometric lattice [cl(T), over ^1] on the set S' of all flats in G covering cl(T). (Here, cl(T) is the closure of T, and over ^ 1 is the maximum of the lattice G.) Thus, by definition, the contraction of a geometry is always a geometry. A geometry which can be obtained from G by deletions and contractions is called a minor of G.

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Molecular and Cellular Studies of Seed Storage Proteins from Rice and Wheat

  • Kim, Woo-Taek
    • Applied Biological Chemistry
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    • v.32 no.1
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    • pp.64-72
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    • 1989
  • Near full length cDNA clones encoding the rice seed storage protein, prolamine, were isolated and divided into two homology classes based on cross-hybridization and DNA sequencing analysis. These cDNA clones contain a single open reading frame encoding a putative rice prolamine precursor(M.W.=17,200) possessing atypical 14 amino acid signal peptide. Clones of these two homology classes diverge mainly by insertions/deletions of short nucleotide stretches and point mutations. The deduced primary structures of both types of prolamine polypeptides are devoid of any major tandem repetitive sequences, a feature prevalent in other cereal prolamines. No significant homology teas detected between the rice prolamine and other cereal prolamines, indicating that the rice gene evolved from a different ancestor that gave rise to other cereal prolamine genes. Developing wheat and rice endosperms were examined using ultrathin sections prepared from tissues harvested at various days after flowering. By immunocytochemical localization techniques, wheat prolamines are localized within vesicles from Golgi apparatus and in homogeneous regions of protein bodies. The involvement of the goli apparatus in the packaging of wheat prolamines into protein bodies indicates a pathway which differs from the mode of other cereal prolamines and resembles the mechanism employed for the storage of rice glutelin and legume globulins.

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Comprehensive Analysis of Non-Synonymous Natural Variants of G Protein-Coupled Receptors

  • Kim, Hee Ryung;Duc, Nguyen Minh;Chung, Ka Young
    • Biomolecules & Therapeutics
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    • v.26 no.2
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    • pp.101-108
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    • 2018
  • G protein-coupled receptors (GPCRs) are the largest superfamily of transmembrane receptors and have vital signaling functions in various organs. Because of their critical roles in physiology and pathology, GPCRs are the most commonly used therapeutic target. It has been suggested that GPCRs undergo massive genetic variations such as genetic polymorphisms and DNA insertions or deletions. Among these genetic variations, non-synonymous natural variations change the amino acid sequence and could thus alter GPCR functions such as expression, localization, signaling, and ligand binding, which may be involved in disease development and altered responses to GPCR-targeting drugs. Despite the clinical importance of GPCRs, studies on the genotype-phenotype relationship of GPCR natural variants have been limited to a few GPCRs such as b-adrenergic receptors and opioid receptors. Comprehensive understanding of non-synonymous natural variations within GPCRs would help to predict the unknown genotype-phenotype relationship and yet-to-be-discovered natural variants. Here, we analyzed the non-synonymous natural variants of all non-olfactory GPCRs available from a public database, UniProt. The results suggest that non-synonymous natural variations occur extensively within the GPCR superfamily especially in the N-terminus and transmembrane domains. Within the transmembrane domains, natural variations observed more frequently in the conserved residues, which leads to disruption of the receptor function. Our analysis also suggests that only few non-synonymous natural variations have been studied in efforts to link the variations with functional consequences.

An Individual Information Management Method on a Distributed Geographic Information System

  • Yutaka-Ohsawa;Kim, Kyongwol
    • Proceedings of the Korean Society of Broadcast Engineers Conference
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    • 1998.06b
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    • pp.105-110
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    • 1998
  • This paper proposes a method to manage individual information on large scale distributed geographic information systems. On such system, ordinary users usually cannot alter the contents of the server. The method proposed in this paper makes possible to alter the contents or add individual data onto such kinds of non-write-permitted data onto set. We call the method as GDSF, ‘geographic differential script file’. In this method, a client user makes a GDSF which contains the private information to be added onto the served data. Then, the client keeps the file on a local disk. After this, when the user uses the data, he applies the differential data sequence onto the down loaded data to restore the information. The GDSF is a collection of picture commands which tell pictures insertions, deletions, and modification operations. The GDSF also can contain the modification. The GDSF also can contain the modification of the attribute information of geographic entities. The method also applicable to modify data on a ROM device, for example CD-ROM or DVD-ROM. This paper describes the method and experimental results.

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Phonological processes of vowels from orthographic to pronounced words in the Buckeye Corpus by sex and age groups

  • Yang, Byunggon
    • Phonetics and Speech Sciences
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    • v.10 no.2
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    • pp.25-31
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    • 2018
  • This paper investigated the phonological processes of monophthongs and diphthongs in the pronounced words present in the Buckeye Corpus and compared the frequency distribution of these processes by sex and age groups to provide a clearer understanding of spoken English to linguists and phoneticians. Both orthographic and pronounced words were extracted from the transcribed label scripts of the Buckeye Corpus using R. Next, the phonological processes of monophthongs and diphthongs in the orthographic and pronounced labels were tabulated using R scripts, and a frequency distribution by vowel process types, as well as sex and age groups, was created. The results revealed that 95% of the orthographic words contained the same number of syllables, whereas 5% had different numbers of vowels, thereby proving that speakers tend to preserve vowels in spontaneous speech. In addition, deletion processes were preferred in natural speech. Most vowel deletions occurred with an unstressed syllable. Chi-square tests were performed to calculate dependence in the distribution of phonological process types for male and female groups and young and old groups. The results showed a very strong correlation. This finding indicates that vowel processes occurred in approximately the same pattern in natural and spontaneous speech data regardless of sex and age, as well as whether or not the vowel processes were identical. Based on these results, the author concludes that an analysis of phonological processes in spontaneous speech corpora can greatly enhance practical understanding of spoken English.

A Case of 17q22 with Interstitial Deletion (염색체 17q22 염색체내 결손으로 진단된 1례)

  • Kang, So-Yeon;Lee, Beom-Hee;Kim, Gu-Hwan;Choi, Jin-Ho;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.8 no.1
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    • pp.58-61
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    • 2011
  • Cases of interstitial deletions of the long arm of chromosome 17 are very rare, with only nine cases ever reported worldwide. We describe a 12-year-old boy with profound developmental delay, microcephaly, facial dysmorphism, contracture of the large joints and bilateral hearing loss. A chromosomal study using a peripheral blood sampled revealed 46,XY,del(17)(q22q23). To our knowledge, he is the first case of interstitial deletion of the long arm of chromosome 17 ever reported in Korea.