• Clinical and Experimental Pediatrics
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• v.49 no.5
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• pp.519-522
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• 2006

Purpose : Alagille syndrome is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, vertebrae, and craniofacial region. The Jagged1(JAG1) gene, which encodes a ligand of Notch, has been found mutated in Alagille syndrome. The aim of the study was to investigate the mutation analysis of JAG1 gene in Korean patients with Alagille syndrome. Methods : Genomic DNA was extracted from peripheral leukocytes of 6 patients. The 26 exons of JAG1 gene were amplified and PCR products were directly sequenced. Results : Two novel frameshift mutations were found. 118delC in exon 2 was found in a patient who developed hepatocellular carcinoma at 4 years of age. 999-1000delTG was identified in exon 7. Conclusion : Mutations identified in this study are expected to give rise to truncated proteins.

• Korean Journal of Microbiology
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• v.41 no.2
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• pp.93-98
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• 2005

The sphingosine kinase gene, which is 969-nucleotide long, was identified during the whole genome sequencing of Sphingomonas chungbukensis DJ77. The amino acid sequence showed the identity of $55\%$ with that of Zymomonas mobilis subsp. mobilis ZM4. C2, C3, and C5 domains of eukaryotic sphingosine kinase were found in sphingosine kinase from Sphingomonas chungbukensis DI77. One of these three conserved sites, GGDG, was predicted as a ATP-binding site, and the functions of the others were unknown currently. The phylogenetic tree constructed by ClustalX indicated that the sphingosine kinase of S. chungbukensis DJ77 was near the phylogenetic group COG1597, and did not belong to the group of diacylglycerol kinase of the same strain. The recombinant sphingosine kinase was expressed in Escherichia coli, but it was made in form of inclusion body.

• The KIPS Transactions:PartD
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• v.10D no.7
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• pp.1161-1170
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• 2003

The BioPlace system is a web-based collaborative system which offers effective exchange of information and research activities among the genomic researchers. BioPlace supports collaborative works among the related group members through Personal Workspces and Team Workspces which are virtual spaces on the web. Jabber is an open messaging system based on XML, giving an efficient way of developing messaging services by providing various functionality for real-time communication and interoperability with other foreign messaging systems. In this paper, we have designed additional Jabber XML protocol to extend Jabber messaging system to be used as real-time communication methods on the BioPlace collaborative system. Also, according to the protocol, we have developed both the extended Jabber server and the BioPlace messenger client.

• Journal of the korean academy of Pediatric Dentistry
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• v.32 no.4
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• pp.682-686
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• 2005

Incontinentia pigmenti(IP), so called Block-Sulzberger syndrome is a rare genodermatosis that occurs almost in female infant; usually lethal in males, X-linked dominantly inherited disorder. IP is characterized by abnormalities of mesodermal and ectodermal tissues including eye, tooth, skin, nail, breast and hair as well as neurological deficiencies. Dental problems are congenital missing of teeth, delayed eruption, abnormal crown shape and so on. Here is a case of 6 year-old female with IP. She had congenital missing of primary and permanent teeth, delayed eruption, maxillary deficiency and extra cusps, resulting in unstable occlusion. Systemically, she had a history of operating eyes due to problem of retina and hyperpigmented macules on her trunk and extremities as typical character of IP.

• Journal of Oral Medicine and Pain
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• v.26 no.1
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• pp.87-93
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• 2001

SOX9과 SRY 유전자는 척추동물에서 남성고환의 형성을 유도하는 요소로 알려졌다. SOX9 유전자는 SRY related HMG box gene중 하나로 유전질환의 XY성전환 및 성을 결정하는 데에 관여하며 성결정시기에 그 양에 따른 성전환 발생등 연구가 진행되고 있다. 그러나 이 유전자가 성별판정에 유용할 지는 확실치 않다. 반면 SRY 유전자는 포유동물에서의 배형성시기 고환형성을 결정하는 Y염색체 유전자로 남성에만 존재하고 여성에는 존재 않는다. 현재까지 이을 이용하여 법의학적 검체에서 남성판별에 유용하게 사용되고 있다. 본 실험에서는 X, Y와 같은 성염색체가 아닌 상동염색체상에 있으면서 SRY 유전자와 더불어 남성고환을 결정하는 또다른 요소로서의 기능을 가진 SOX9 유전자를 치아에서 검출하여 법의학적 성별판정에 유용할 수 있는지 알아보고자 본 연구를 수행하였다. 남녀각각 5개의 치아에서 치수와 상아질을 분리한 후 DNA를 추출하여 SOX9과 SRY 유전자의 특이적인 시발체를 제작하고 중합효소연쇄반응을 시행하여 증폭하고 전기영동을 시행하였다. 그 결과 SOX9 유전자는 남녀모두에서 유전자가 검출되었고, SOX9 유전자산물과 SRY 유전자를 혼합하여 사용시 남자에서만 유전자가 검출되었다. 이는 법의치과학적 성별판정에 있어 SOX9 유전자는 사람의 치아에서는 남녀 모두 존재하며 남녀 구별을 위한 성별판정에는 이용할 수 없으며 SRY 유전자와 함께 적용시 남성 특이적 SRY 유전자 검사중 발생할 수 있는 가성 음성 반응여부를 확인하는 데 유용할 것으로 사료된다.

• Korean Journal of Agricultural Science
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• v.34 no.1
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• pp.47-52
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• 2007

유전자의 발현이 다양한 형태로 억제되는 것을 silencing이라고 한다. 유전자 발현억제 방법 중 antisense RNA는 자연 상태의 mRNA에 역상보적인 RNA 분자로서 형질전환된 세포에서 그 mRNA의 전이을 억제하는 데 이용된다. RNA분자에 대하여 상보적 염기배열을 갖는 RNA는 분자간 결합을 연결하여 RNA의 기능 발현에 억제적으로 작용한다고 생각된다. 미생물에 나타나는 유전자발현 제어기작으로서 어느 특정한 mRNA에 대하여 상보적인 RNA가 유전자 발현의 억제인자로서 작용하고 있는 예가 몇 가지 알려져 있다. 이러한 경우 antisense RNA는 mRNA 상의 전이개시영역과 상보적 배열을 하고 있고, 전이과정을 방해한다고 추정되고 있지만 작용기작의 상세한 내용은 아직 명확하지가 않다. 한편 안티센스RNA는 임의의 표적유전자에 대하여 인위적으로 제작할 수가 있기 때문에 인위적인 유전자발현제어의 한 방법으로 이용되고 있다. 특정한 유전자에 대한 antisense RNA를, 발현하는 유전자를 인위적으로 제작하여 세포내에 도입하면 표적유전자의 발현을 특이적으로 억제 제어할 수 있는 것이 기대되어, 다양한 생물체를 대상으로 하여 많은 시도가 이루어지고 있으며 몇 가지 성공적인 보고가 있다. 그 중 식물이차대사과정에 관련 유전자를 대상으로 antisense RNA 기법으로 유전자의 발현억제와 이차대사산물 생산조절에 관한 연구를 이 논문에서 조사하고 정리하였다.

• Journal of Life Science
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• v.23 no.4
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• pp.595-601
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• 2013

The clusters of orthologous groups of proteins (COG) algorithm was applied to identify essential proteins in eukaryotes and to measure the degree of conservation. Sixty-three orthologous groups, which were conserved in 66 microbial genomes, enlarged to 104 eukaryotic orthologous groups (KOGs) and 71 KOGs were conserved at the nuclear genome of 7 eucaryotes. Fifty-four of 71 translation-related genes were conserved, highlighting the importance of proteins in modern organisms. Translation initiation factors (KOG0343, KOG3271) and prolyl-tRNA synthetase (KOG4163) showed high conservation based on the distance value analysis. The genes of Caenorhabditis elegans appear to harbor high genetic variation because the genome showed the highest variation at 71 conserved proteins among 7 genomes. The 71 conserved genes will be valuable in basic and applied research, for example, targeting for antibiotic development.

• Journal of Life Science
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• v.16 no.1
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• pp.44-48
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• 2006

The gene for a L-aspartate $\beta-decarboxylase$ (ADC) from Enterococcus faecalis was cloned and sequenced. The gene comprised an open reading frame of 1,611 base pairs, which encodes a protein of 58,960 Da consisting of 536 amino acid residues. The gene was subcloned into an expression plasmid for overexpression of the ADC. The recombinant ADC was produced using E. coli as the host and purified to homogeneity. Our result showed that the ADC may be obtained from bacteria known nucleotide sequence. Thus, we suggest that high value L-alanine might be produced by low value aspartate.

• Journal of Information Management
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• v.40 no.1
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• pp.157-181
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• 2009

As the information technology is evolved and the human genome project is finalized over the world, the Bioinformatics - the integration of abundant Biological science and information technology - has shown up and is continuously being advanced. Together with the evolution of Bioinformatics, the websites dealing with Bioinformation have been set up to provide relevant information to the Bioscientists. Among the numerous global websites, the preferred websites by the majority of domestic Bioscientists are BRIC (Biological Research Information Center) of POSTECH(Pohang University of Science and Technology) in Korea, CCBB(Center for Computational Biology and Bioinformatics) of KISTI(Korea Institute of Science and Technology Information), KOBIC(Korean Bioinformation Center) of KRIBB(Korea Research Institute of Bioscience and Biotechnology), NCBI(National Center for Biotechnology Information) in USA, EBI(European Bioinformatics Institute) in Europe and DDBJ(DNA Data Bank of Japan) in Japan. In this paper, the comparative analysis was executed by investigating contents status and functions of the above-mentioned 6 websites. In addition, questionnaire survey of Bioscience Researchers' utilization status and their needs to those 6 websites was conducted.

• Journal of KIISE:Databases
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• v.32 no.1
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• pp.24-42
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• 2005

Characteristics of biological data including genome sequences are heterogeneous and various. Although the need of management systems for genome sequencing which should reflect biological characteristics has been raised, most current biological databases provide restricted function as repositories for biological data. Therefore, this paper describes a management system of nucleotide sequences at the level of biological laboratories. It includes format transformation, editing, storing and retrieval for collected nucleotide sequences from public databases, and handles sequence produced by experiments. It uses BSML based on XML as a common format in order to extract data fields and transfer heterogeneous sequence formats. To manage sequences and their changes, version management system for originated DNA is required so as to detect transformed new sequencing appearance and trigger database update. Our experimental results show that applying active trigger rules to manage changes of sequences can automatically store changes of sequences into databases.