• 제목/요약/키워드: Sequence deletion

검색결과 210건 처리시간 0.032초

Analysis of C. elegans VIG-1 Expression

  • Shin, Kyoung-Hwa;Choi, Boram;Park, Yang-Seo;Cho, Nam Jeong
    • Molecules and Cells
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    • 제26권6호
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    • pp.554-557
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    • 2008
  • Double-stranded RNA (dsRNA) induces gene silencing in a sequence-specific manner by a process known as RNA interference (RNAi). The RNA-induced silencing complex (RISC) is a multi-subunit ribonucleoprotein complex that plays a key role in RNAi. VIG (Vasa intronic gene) has been identified as a component of Drosophila RISC; however, the role VIG plays in regulating RNAi is poorly understood. Here, we examined the spatial and temporal expression patterns of VIG-1, the C. elegans ortholog of Drosophila VIG, using a vig-1::gfp fusion construct. This construct contains the 908-bp region immediately upstream of vig-1 gene translation initiation site. Analysis by confocal microscopy demonstrated GFP-VIG-1 expression in a number of tissues including the pharynx, body wall muscle, hypodermis, intestine, reproductive system, and nervous system at the larval and adult stages. Furthermore, western blot analysis showed that VIG-1 is present in each developmental stage examined. To investigate regulatory sequences for vig-1 gene expression, we generated constructs containing deletions in the upstream region. It was determined that the GFP expression pattern of a deletion construct (${\Delta}-908$ to -597) was generally similar to that of the non-deletion construct. In contrast, removal of a larger segment (${\Delta}-908$ to -191) resulted in the loss of GFP expression in most cell types. Collectively, these results indicate that the 406-bp upstream region (-596 to -191) contains essential regulatory sequences required for VIG-1 expression.

현대일본어의 회화문에 나타난 축약형의 음운론적 분석 (Analysis of Phonological Reduction in Conversational Japanese)

  • 최영숙;좌등자;박희태
    • 대한음성학회:학술대회논문집
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    • 대한음성학회 1996년도 10월 학술대회지
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    • pp.198-206
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    • 1996
  • Using eighteen text materials from various goners of present-day Japanese, we collected phonologically reduced forms frequently observed in conversational Japanese, and classified them in search of unified explanation of phonological reduction phenomena. We found 7,516 cases of reduced forms which we divided into 43 categories according to the types of phonological changes they have undergone. The general tendencies ale that deletion and fusion of a phoneme or an entire syllable takes place frequently, resulting in the decrease in the number of syllable. Typical examples frequently observed throughout the materials are : $~/noda/{\rightarrow}~/nda/,{\;}-/teiru/{\rightarrow}~/teru/,{\;}~/dewa/{\rightarrow}~/zja/,{\;}~/tesimau/{\rightarrow}~/cjau/$. From morphosyntactic point of view phonological reduction often occurs at the NP and VP morpheme boundaries. The following findings are drawn from phonological observations of reduction. (1) Vowels are more easily deleted than consonants. (2) Bilabials(/m/, /b/, and /w/ are the most likely candidates for deletion. (3) In a concatenation of vowels, closed vowels are absorbed into open vowels, or two adjacent vowels come to create another vowel, in which case reconstruction of the original sequence is not always predictable. (4) Alveolars are palatalized under the influence of front vowels. (5) Regressive assimilation takes place in a syllable starting with ill, changing the entire syllable into phonological choked sound or a syllabic nasal, depending on the voicing of following phoneme.

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일본어 회화문에 나타난 축약형의 음운론적 해석과 음향음성학적 분석 (Acoustical Analysis of Phonological Reduction in Conversational Japanese)

  • 최영숙
    • 음성과학
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    • 제8권4호
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    • pp.229-241
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    • 2001
  • Using eighteen texts from various genera of present-day Japanese, I collected phonologically reduced forms frequently observed in conversational Japanese, and classified them in search of a unified. explanation of phonological phenomena. I found 7,516 cases of reduced forms which I divided into 43 categories according to the types of phonological changes they have undergone. The general tendencies are that deletion and fusion of a phoneme or an entire syllable takes place frequently, resulting in the decrease in the number of syllables. From a morphosyntactic point of view, phonological reduction often occurs at the NP and VP morpheme boundaries. The following findings are drawn from phonetical observations of reduction. (1) Vowels are more easily deleted than consonants. (2) Bilabials ([m], [b], and [w]) are the most likely candidates for deletion. (3) In a concatenation of vowels, closed vowels are absorbed into open vowels, or two adjacent vowels come to create another vowel, in which case reconstruction of the original sequence is not always predictable. (4) Alveolars are palatalized under the influence of front vowels. (5) Regressive assimilation takes place in a syllable starting with [r], changing the entire syllable into a phonological choked sound or a syllabic nasal, depending on the voicing of the following phoneme.

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Structural Variation of Alu Element and Human Disease

  • Kim, Songmi;Cho, Chun-Sung;Han, Kyudong;Lee, Jungnam
    • Genomics & Informatics
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    • 제14권3호
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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.

돼지 Melanocortin Receptor 1(MC1R) 대립유전자 3의 신규 유전변이 탐색 (Detection of Novel Genetic Variations of the MG1R * 3 Allele in Pig(Sus scrofa))

  • 조인철;정용환;정진관;성필남;오운용;고문석;김병우;이정규;전진태
    • Journal of Animal Science and Technology
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    • 제46권1호
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    • pp.1-6
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    • 2004
  • 본 연구는 MCIR$^*$3 allele의 돼지에 있어서 유전적 변이를 관찰하기 위하여 수행하였다. 일반적으로 흑모색 바탕에 백색반점이나 백색띠를 갖고 있는 돼지의 MCIR 유전자의 유전자형은 E$^{D2}$로 나타낸다. 우성 백색계통의 E$^P$ 유전자형은 우성 흑모색 계통의 E$^{D2}$ 유전자와 frameshift mutation 관계가 있다. 돼지 MCIR 전체 번역지역을 증폭하기 위하여 oligonucleotide primer률 제작하여 PCR을 수행 하였다. 그 결과 길이가 963${\sim}$966 base pairs인 돼지 MCIR 유전자의 전체번역지역을 포함하는 산물을 얻었다. 이들 번역부위의 염기서열 결정하고 이들을 Clusta1 W 프로그램을 이용하여 정렬한 결과 23번 코돈{nt68)에서 Hampshire와 제주 재래혹돈은 염기 시토신(cytosine)이 3 개 그리고 Birl‘shire의 경우 염기 시토신(cytosine)이 2개 결실되어 있었다. 그 외에 3개의 missense mutations과 하나의 frameshift mutation이 발견되었다.

Bacillus subtilis DEAD-Box RNA Helicase 유전자 결손 균주들의 저온 민감성 생장 (Cold-Sensitive Growth of Bacillus subtilis Mutants Deleted for Putative DEAD-Box RNA Helicase Genes)

  • 오은하;이상수
    • 미생물학회지
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    • 제46권3호
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    • pp.233-239
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    • 2010
  • Bacillus subtilis에 존재하는 DEAD-box RNA helicase에 대한 유전자 상동성 검색을 통해 yqfR, yfmL, ydbR, deaD 의 4종류의 유전자를 확인하였고 이들 유전자 각각의 결손 돌연변이체를 제조하였다. 이들 돌연변이체들의 특성을 알아보기 위하여 LB 배양액을 사용하여 여러 온도에서의 생장 속도를 조사하였다. LB 배양액에서 $37^{\circ}C$의 생장 결과 ydbR 결손 균주가 다소 생장이 느려지나($T_d$=53 min) 다른(yqfR, yfmL, deaD) 결손 돌연변이체들은($T_d$=30-40 min) 결손이 없는 야생형 균주 CU1065와($T_d$=32 min) 유사하였다. 반면에 $22^{\circ}C$에서의 생장은 CU1065 ($T_d$=102 min)에 비해 yqfR ($T_d$=151 min), yfmL ($T_d$=214 min), ydbR ($T_d$=343 min) 결손 균주 순으로 생장속도가 느린 저온 민감성을 보인다. deaD의 $22^{\circ}C$에서의 생장 속도는 ($T_d$=109 min) CU1065와 ($T_d$=102 min) 매우 유사하여 저온 민감성을 보이지 않았다. 그리고 이들 유전자들의 이중, 삼중, 사중의 결손 균주들을 제조하였고, 여러 온도에서 ($42^{\circ}C$, $37^{\circ}C$, $22^{\circ}C$) LB 배양액을 사용하여 생장 속도를 측정 하였다. 다중 결손은 단일 결손보다 더 심한 저온 민감성을 보이며, 이중 결손의 경우, ydbR과 yfmL의 결손이 다른 조합의 결손보다 보다 큰 저온 민감성을 나타내었다 ($T_d$=984 min). 이러한 저온 민감성은 E. coli의 csdA 혹은 srmB 결손의 결과와 유사하며 리보솜 조립과 관련이 있는 생리적 기능으로 보인다.

분리 대장균 O139의 Shigatoxin2e A 유전자의 효소 활성부에 대한 결손변이 유발 및 변이 단백질의 발현 (Induction of Deletion Mutation for the Enzymatic Domain in the Shigatoxin2e A Subunit Gene of Esherichila coli O139 Isolates and Expression of Mutated Protein)

  • 조은정;김도경;김상현;김영일;이철현;이우원;손원근;신종욱;김용환
    • 한국임상수의학회지
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    • 제22권4호
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    • pp.386-391
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    • 2005
  • This study was done to produce a mutated protein inactivated cytotoxicity of Shigatoxin 2e (Stx2e) of E.coli O139 isolates by deletional mutagenesis of Stx2e A subunit gene encoding active-site cleft of enzymatic domain in ST2e holotoxin. Cytotoxicity of the toxoid expressed from the mutant Stx2e gene was compared with wild type Stx2e for development of vaccine candidate. A recombinant plasmid pED18 containing Stx2e gene ot E.coli O139 isolates was used to generate mutation plasmid. Deletion mutagenesis was conducted for Stx2e A subunit gene encoding enzymatically active domain by polymerase chain reaction (PCR) using ot designed primer to induce deletional mutation. DNA sequence analysis was confirmed that the pentamer (Typ 202- Ser 206) that lies within the proposed active-site cleft in the second region was completely deleted. A DNA fragment of 1.1 kb that encode the new mutant Stx2eA gene was inserted into plasmid pRSET vector digested with EcoRV-Hind III and named pEDSET The PEDSET was transformed in E. coli for expression of mutant protein and the protein was confirmed by SDS-PACE and Western-blotting. The protein expressed by the mutant was tested to confirm the reduction of cytotoxic activities on Vero cell using microcytotoxicity assay compared with wild type Stx2e, the cytotoxicity of deletional mutant protein was at least reduced by 3,000-fold on Vero cell.

Lifting 기반 1D DWT 영역 상의 강인한 DNA 워터마킹 (A Robust DNA Watermarking in Lifting Based 1D DWT Domain)

  • 이석환;권기룡;권성근
    • 전자공학회논문지
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    • 제49권10호
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    • pp.91-101
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    • 2012
  • 개인 유전정보 또는 대용량 DNA 저장 정보의 보호와 GMO(Genetically Modified Organism) 저작권 보호를 위하여 DNA 서열 워터마킹 연구가 필요하다. 기존 멀티미디어 데이터 워터마킹에서는 강인성 및 비가시성에 대한 성능이 우수한 DCT, DWT, FMT(Fourer-Mellin transform) 등 주파수 기반으로 설계되어졌다. 그러나 부호 영역 서열의 주파수 기반 워터마킹은 아미노산 보존성을 유지하면서 변환 및 역변환을 수행하여야 하므로, 워터마크 삽입에 대한 상당한 제약을 가진다. 따라서 본 논문에서는 변이 강인성, 아미노산 보존성 및 보안성을 가지는 부호 영역 서열의 Lifting 기반 DWT 변환 계수를 이용한 워터마킹을 제안하며, 주파수 기반 DNA 서열 워터마킹에 대한 가능성을 제기한다. 실험 결과로부터 제안한 방법이 10%의 포인트 변이와 5%의 삽입 및 삭제 변이에 대한 강인성을 가지며, 아미노산 보존성 및 보안성을 가짐을 확인하였다.

Comparative Genomics Study of Interferon-$\alpha$ Receptor-1 in Humans and Chimpanzees

  • Kim, Il-Chul;Chi, Seung-Wook;Kim, Dae-Won;Choi, Sang-Haeng;Chae, Sung-Hwa;Park, Hong-Seog
    • Genomics & Informatics
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    • 제3권4호
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    • pp.142-148
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    • 2005
  • The immune response-related genes have been suggested to be the most favorable genes for positive selection during evolution. Comparing the entire DNA sequence of chimpanzee chromosome 22 (PTR22) with human chromosome 21 (HSA21), we have identified 15 orthologs having indel in their coding sequences. Among them, interferon-${\alpha}$ receptor-1 gene (IFNAR1), an immuneresponse-related gene, is subjected to comparative genomic analysis. Chimpanzee IFNAR1 showed the same genomic structure as human IFNAR1 (11 exons and 10 introns) except the 3 bp insertion in exon 4. The sequence alignment of IFNAR1 coding sequence indicated that 'ISPP' amino acid sequence motif is highly conserved in chimpanzee and other animals including mouse and chicken. However, the human IFNAR1 shows that one proline residue is missing in the sequence motif. The homology modeling of the IFNAR1 structures suggests that the proline deletion in human IFNAR1 leads to the formation of the following ${\alpha}$-helix, whereas two sequential prolines in chimpanzee IFNAR1 inhibit it. As a result, human IFNAR1 may adopt a characteristic structure distinct from chimpanzee IFNAR1. This human specific trait could contribute to specific immune response in the most optimized manner for humans. Further molecular biological studies on the IFNAR1 will help us to gain insights into the molecular implication of species-specific host-pathogen interaction in primate evolution.

Drosophila melanogaster 한국지반에서 분리한 KP Elements의 DNA 염기서열 분석 (Molecular Analysis of KP Elements Derived from Korean Populations of Drosophifa mefanogaster)

  • Kim, Wook;Kim, Jeong-Soo;Shin, Dong-Jik
    • 한국동물학회지
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    • 제39권2호
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    • pp.164-172
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    • 1996
  • KP elements derived from Korean populations (Seoul, Cheonan and Taegu) of Drosophila melunoguster were examined for their molecular structure. The entire 1.15 kb sequence of the three KP elements KC-137 (Cheonan), KS-95 (Seoul) and KT-99 (Taegu) have been obtained by PCR amplification using inverted repeat primers and DNA sequencing. The 1.15 kb fragments of KP elements were cloned into pCRmll vector plasmids, and subsequently sequenced. The sequence of the three KP elements in these populations suggested that there might have been derived from the complete P element by a 1753 bp internal deletion between positions 808 and 2560. Therefore these KP elements were confirmed to be identical to that isolated from M'10 strains widely distributed in most Eurasian populations of D. melanoguster. Sequence comparison with the 2.9 kb complete P element in pn25.1 revealed that KC-137 has only shown to be two base substitutions of A to G and G to A at positions 62 and 242, respectively. The retained sequence of the two KP elements KS-95 and KT-99 shows complete homology to the P factor in pn25.1. Based on this result, the two base substitutions in KC-137 might be due to Taq DNA pollunerase errors. Finally, it is suggested that the high copy numbers of KP elements provieds an explanation for the suppression of P-mediated hybrid dvssenesis in Korean population of D. melunogoster.

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