• Journal of Oral Medicine and Pain
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• 제15권1호
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• pp.55-60
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• 1991

After dividing 372 Korean people of 47 different family names into 307 people of 28 indigenous family name groups and 65 people of 19 immigrated family name groups and investigating Pr. Db, Pa gene frequency of each family name groups based on phenotype of parotid saliva character the author have got following conclusions. 1. The gene frequencies of indigenous family name groups were Pr1=0.686, Pr2=0.314, Pr gene frequencies of immigrated family name groups were Pr1=0.7, Pr2=0.3. 2. The gene frequencies of indigenous family name groups were Db==0.021, Db-=0.979, Pr gene frequencies of immigrated family name groups were Db+=0.023, Db-=0.977. 3. The gene frequencies of indigenous family name groups were Pa+=0.248, Pa-=0.752, Pr gene frequencies of immigrated family name groups were Pa+=0.206, Pa-=0.794. 4. The Pr gene frequencies of immigrated family name groups were in the middle of those of Chinese people and indigenous people groups. 5. There was no significant difference of Db gene frequencies between indigenous and immigrated family name groups. 6. Pa gene frequencies of immigrated family name groups were similar to those of Chinese people.

• 한국균학회지
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• 제28권1호
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• pp.26-31
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• 2000

팽이버섯의 자실체형성 과정에 특이적으로 발현하는 FVFD16과 FVFD30 유전자의 genomic 클론을 단리하여 염기서열을 분석하였다. FVFD16은 Open Reading Frame(ORF)내에 2개의 intron이 관찰되었고, FVFD30 유전자에서는 4개의 intron이 관찰되었다. 또한 intron의 특징적인 염기서열인 GT/AG의 rule과도 일치하고 있음이 밝혀졌다. FVFD16과 FVFD30의 두 유전자 모두에서 진핵생물의 promoter영역에서 자주 관찰되는 CAAT box와 유사한 배열과 TATA box가 존재했다. 또한, 전사개시점의 바로 앞에서 관찰되어지는 CT-rich의 영역이 존재하고 있었으며, 특히 FVFD30에서는 전사개시 시에 중요한 역할을 할 것으로 예상되는 CCACC의 서열이 관찰되었다. 한편 FVFD16 genomic클론의 염기서열 분석결과 cDNA클론과 80%의 상동성을 나타내는 gene family임이 밝혀졌다. 여러 가지 제한효소에 의한 genomic southern blot 분석결과 FVFD16과 FVFD30은 2번 이상의 반복배열 또는 gene family의 존재가 확인되었다.

• 한국환경성돌연변이발암원학회지
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• 제19권1호
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• pp.28-33
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• 1999

The SNF2 family includes proteins from a variety of species with roles I cellular processes such as transcriptional regulation, recombination and various types of DNA repair. Several proteins with unknown function are also included in this family. Here, we report the cloning and characterization of hrp 2+ gene (helicase related gene from S. pombe) which was isolated by PCR amplication using the conserved domain of SNF2 motifs within the ERCC6 gene which encodes a protein involved in DNA excision repair. The hrp2+ gene was isolated by screening with yeast S. pombe genomic library. The isolated cloned contained 6.5 kb insert DNA. Southern blot analysis confirmed that S. pombe chromosome contains the same DNA as hrp2+ gene and this gene exists as a single copy in S. pombe genome. The 4.7 kb transcript of mRNA was identified by Northern blot. To examined the transcriptional regulation of hrp2+ gene, DNA damaging agents were treated. These results indicated that the hrp2+ gene may not be directly involved in DNA replication, but may be involved in damage response pathway.

• 한국환경과학회지
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• 제28권1호
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• pp.75-84
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• 2019

Cytochrome c oxidase subunit II gene(CO II gene) is subunit of cytochrome oxidase, which is complex IV of mitochondria electron transport system. It has been frequently used in molecular phylogenetic studies because the speed of its DNA variation is faster than that of nucleus. It is especially useful in phylogenetic study of molecular biology in insects. In this study, we cloned and sequenced CO II gene of mitochondria DNA from Rhabditidae family nematode. Our results showed that this gene is comprised of 696 base pairs(bp). In the analysis of similarity of this gene with other known genes of 14 species of nematodes in Rhabditida order, we identified that this gene has high similarity with that of Caenorhabditis briggsae(86.0%) and C. elegans(85.6%) in Rhabditidae family. On the meanwhile, it has very low similarity with that of Angiostrongylus cantonensis(31.8%) in Angiostrongylidae family and Metastrongylus salmi(31.6%) in Metastrongylidae family. Based on the results of this study, we suggest that this nematode is closely related with that of Caenorhabditis genus in Rhabditidae family.

• BMB Reports
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• 제39권5호
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• pp.595-606
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• 2006

Metallothioneins are a group of low molecular mass and cysteine-rich metal-binding proteins, ubiquitously found in most living organisms. They play an important role in maintaining intracellular metal homeostasis, eliminating metal toxification and protecting against intracellular oxidative damages. Analysis of complete rice genome sequences revealed eleven genes encoding putative metallothionein (OsMT), indicating that OsMTs constitute a small gene family in rice. Expression profiling revealed that each member of the OsMT gene family differs not only in sequence but also in their tissue expression patterns, suggesting that these isoforms may have different functions they perform in specific tissues. On the basis of OsMT structural and phylogenetic analysis, the OsMT family was classified as two classes and class I was subdivided into four types. Additionally, in this paper we also present a complete overview of this family, describing the gene structure, genome localization, upstream regulatory element, and exon/intron organization of each member in order to provide valuable insight into this OsMT gene family.

• Toxicological Research
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• 제20권4호
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• pp.299-305
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• 2004

Adult periodontitis (AP) is a chronic inflammatory disease whose etiology is not well defined. Some studies suggested that the clinical characteristics of this disease may be in part explained by genetic factors, and some attempts to find genetic markers for this disease were successful. The interleukin-1 (IL-1) gene family as one of genetic factors may influence the expression of adult periodontitis. The aim of present study is to investigate the frequencies of genetic polymorphisms in the IL-1 gene family encoding three genes (IL-1A, IL-1B and IL-1RN) in Korean AP patients and periodontically healthy controls. There were no significant differences in genotype and allele frequencies of these polymorph isms between two groups, respectively. However, -511 polymorphism of IL-1 B gene was significantly associated with mean pocket depth (MPD, mm) value in AP patients (P<0.05). Therefore, our results suggest that -511 polymorphism in the IL-1B gene may be useful as a genetic marker for the severity of AP in Koreans.

• Genes and Genomics
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• 제40권11호
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• pp.1149-1155
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• 2018

Epileptic encephalopathies are genetically heterogeneous disorders which leads to epilepsy and cause neurological disorders. Seizure threshold 2 (SZT2) gene located on chromosome 1p34.2 encodes protein mainly expressed predominantly in the parietal and frontal cortex and dorsal root ganglia in the brain. Previous studies in mice showed that mutation in this gene can confers low seizure threshold, enhance epileptogenesis and in human may leads to facial dysmorphism, intellectual disability, seizure and macrocephaly. Objective of this study was to find out novel gene or novel mutation related to the gene phenotype. We have identified a large consanguineous Saudi family segregating developmental delay, intellectual disability, epilepsy, high forehead and macrocephaly. Exome sequencing was performed in affected siblings of the family to study the novel mutation. Whole exome sequencing data analysis, confirmed by subsequent Sanger sequencing validation study. Our results showed a novel homozygous mutation (c.9368G>A) in a substitution of a conserved glycine residue into a glutamic acid in the exon 67 of SZT2 gene. The mutation was ruled out in 100 unrelated healthy controls. The missense variant has not yet been reported as pathogenic in literature or variant databases. In conclusion, the here detected homozygous SZT2 variant might be the causative mutation that further explain epilepsy and developmental delay in this Saudi family.

• Journal of Life Science
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• 제10권1호
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• pp.40-44
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• 2000

The SNF2/SW ATPase/helicase family comprises proteins form a variety of species with in vivo functions, such as transcriptional regulation, maintenance of chromosome stability during mitosis, and various types of DNA repair. Here, we reported the characterization of h게2+gene which was iolated by PCR amplification using the conserved domain of SNF2 motifs. Sequence analysis of PCR product showed striking evolutionary conservation among the SNF2 family of proteins. Two transcripts of 6.7 and 3.4 Lb were detected by Northern blot analysis. furthermore, the intensities of these two bands were increased by ultraviolet(UV) irradiation. These results indicate that the hrp2+ is a novel member of the SNF2 family of proteins and is one of the UV-inducible genes in S. pombe. To determine the level of transcripts of hrp2+ gene during cellular growth, Northern blot analysis were performed. This result indicates that the level of hrp2+transcript reached its maximum before cells entered the exponential growth phase. This suggests that hrp2+ gene is experssed mainly at the early stage of cell growth.

• Journal of Life Science
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• 제11권1호
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• pp.39-41
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• 2001

Cytohesin family has been thought to participate in inside-outside signaling linking growth factor receptor stimulation of PI 3-kinase to cell adhesion and stimulate nucleotide exchange of ARF through its Sec7 domain. The genomic structure of the cytohesin family was analyzed by BLAST search using cDNA and genomic DNA sequences from the GeneBank database. The cytohesin-2 was encoded by 12 exons. while the cytohesin-4 was encoded by 13 exons. The Sec7 and PH domains were not encoded by separate exons. In an analysis of retroviral integration, those two families did not contain any retroviral elements in introns or exons. The phylogenetic tree calculated by the neighbor-joining method suggests that the cytohesin-1 family was closely related to cytohesin-3 (ARNO3) family. These date could be of great use in further studies for resolving the exact function and evolution of the cytohesin family.

• 한국환경성돌연변이발암원학회지
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• 제22권3호
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• pp.137-141
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• 2002

본 연구는 분열형 효모 Schizosaccharomyces pombe에서 여러 가지 DNA 절제회복 및 유전자 발현에 관여하는 SNF2/SW12유전자의 기능을 연구하기 위하여 이에 관련되는 유전자를 분리하고 그 특성을 연구하였다. SNF2 motif 의 conserved sequence를 primer로 하여 중합효소 연쇄반응(PCR) 방법으로 480 bp 크기의 DNA fragment를 분리하여, 이를 probe로 하여 효모에서 hrp2＋ 유전자를 분리하였다. 분리한 hrp2＋ 유전자의 sequence homology를 비교한 결과 3개의 SNF2 motif를 포함하고 있었다. hrp2＋유전자의 전사체 크기는 4.7 kb임을 Northern hybridization으로 확인하였다. hrp2＋유전자의 전사 개시 부위를 알기 위하여 primer extension분석을 한 결과, 첫 번째 ATG에서 약47 base pair 위쪽에 위치함을 확인하였다. 또한 특성 연구를 위하여 Northern hybridization으로 hrp2＋ 유전자의 UV와 MMS에 대한 유도성을 조사한 결과 자외선에 대해서만 유전자의 발현이 유도되었다. 이 결과 분리한 hrp2＋는 UV-inducible 유전자임을 확인하였다.