• Asian Pacific Journal of Cancer Prevention
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• 제17권4호
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• pp.1725-1727
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• 2016

Breast cancer contributes to approximately 23% of the cancer cases identified and 14% of cancer related deaths worldwide. Including a strong association between genetic and environmental factors, breast cancer is a complex and multi factorial disorder. Two high penetration breast cancer susceptibility genes (BRCA1 and BRCA2) have been identified, and germ line mutations in these are thought to account for between 5% and 10% of all breast cancer cases. The human BRCA1 gene, located on 17q, is involved in the regulation of cell proliferation by aiding in DNA repair, transcriptional responses to DNA damage and cell cycle check points. Mutations in this gene enhance cell proliferation and facilitate formation of tumors. Two mutations, the 185 deletion of AG and the 4627 substitution from C to A, are founder mutations in the BRCA1 gene for breast cancer in Asian populations. Allele specific PCR was performed to detect these selected mutations in 120 samples. No mutation of 4627 C to A was detected in the samples and only one of the patients had the 185 del AG mutation in the heterozygous condition. Our collected samples had lower consanguinity and family history indicating the greater involvement of environmental as compared to genetic factors.

• Journal of Genetic Medicine
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• 제20권2호
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• pp.31-38
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• 2023

Rare diseases, even though defined as fewer than 20,000 in South Korea, with over 8,000 rare Mendelian disorders having been identified, they collectively impact 6-8% of the global population. Many of the rare diseases pose significant challenges to patients, patients' families, and the healthcare system. The diagnostic journey for rare disease patients is often lengthy and arduous, hampered by the genetic diversity and phenotypic complexity of these conditions. With the advent of next-generation sequencing technology and clinical implementation of exome sequencing (ES) and genome sequencing (GS), the diagnostic rate for rare diseases is 25-50% depending on the disease category. It is also allowing more rapid new gene-disease association discovery and equipping us to practice precision medicine by offering tailored medical management plans, early intervention, family planning options. However, a substantial number of patients remain undiagnosed, and it could be due to several factors. Some may not have genetic disorders. Some may have disease-causing variants that are not detectable or interpretable by ES and GS. It's also possible that some patient might have a disease-causing variant in a gene that hasn't yet been linked to a disease. For patients who remain undiagnosed, reanalysis of existing data has shown promises in providing new molecular diagnoses achieved by new gene-disease associations, new variant discovery, and variant reclassification, leading to a 5-10% increase in the diagnostic rate. More advanced approach such as long-read sequencing, transcriptome sequencing and integration of multi-omics data may provide potential values in uncovering elusive genetic causes.

• 방사선산업학회지
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• 제2권3호
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• pp.121-128
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• 2008

Flavanone-3-hydroxylase (F3H) is one of the key enzymes for the biosynthesis of flavonals, anthocyanins, catechins and proanthocyanins. F3H catalyzes the $3{\beta}$-hydroxylation of (2S)-flavonones to form (2R, 3R)-dihydroflavonols. In this report, we isolated a full-length cDNA of RocF3H from black raspberry (Rubus occidentalis L.) using a reverse transcriptase-PCR and rapid amplification of the cDNA ends (RACE)-PCR. The full-length cDNA of RocF3H contains a 1,098 bp open reading frame (ORF) encoding a 365 amino acid protein with a calculated molecular weight of about 41.1 kDa and isoelectric point (pI) of 5.45. The genomic DNA analysis revealed that the RocF3H gene had three exons and two introns. Comparison of the deduced amino acid sequence of the RocF3H with other F3Hs revealed that the protein is highly homologous with various plant species. The conserved amino acids ligating the ferrous iron and the residues participating in the 2-oxoglutarate binding (R-X-S) were found in RocF3H at the similar positions to other F3Hs. Southern blot analysis indicated that RocF3H exist a multi-gene family. The isolation of RocF3H gene will be helpful to further study the role of F3H gene in the biosynthesis of flavonoids in R. occidnetalis.

• 생명과학회지
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• 제30권1호
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• pp.88-95
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• 2020

유기용매 내성 세균인 Pseudomonas sp. BCNU 106을 10%(v/v) 톨루엔에 노출시킨 후 8시간 동안 random arbitrarily primed polymerase chain reaction (RAP-PCR)기법을 이용하여 메신져 RNA 발현 레벨을 조사하였다. 총 100개의 상향발현된 발현 산물 중에서 50개의 상보적인 단편들이 반복적으로 재현성있게 발현되는 것으로 확인되어, 이들을 클로닝을 하였으며 나아가 유전자 염기서열을 결정하였다. Blast analysis 결과, 톨루엔은 LysR family transcriptional regulator 그리고 RNA polymerase factor sigma-32같은 전사와 관련된 유전자들의 발현 레벨을 적응적으로 증가시키는 것으로 확인되었다. 그리고 톨루엔 스트레스 존재 하에서 inorganic ion 수송과 대사와 관련된 catalase와 Mn²⁺/Fe²⁺ transporter 유전자의 발현이 증가되었으며, 신호전달과 대사와 기능적으로 관련된 type IV pilus assembly PilZ와 multi-sensor signal transduction histidine kinase 유전자들의 발현 증가도 확인되었다. 한편 톨루엔 노출 후 탄수화물 수송과 대사와 관련된 beta-hexosaminidase 유전자발현 레벨이 증가하였다. 나아가 DNA polymerase III subunit epsilon, DNA-3-methyladenine glycosylase II와 DEAD/DEAH box helicase domain-containing 유전자들과 같은 DNA 복제, 재조합 그리고 수복에 관련성이 있는 유전자들의 발현 레벨 그리고 심지어는 ABC transporter 유전자와 같은 방어 메커니즘에 관련성이 있는 유전자들의 발현 레벨이 적응적으로 증가되는 것으로 밝혀졌다. 특히 10% 톨루엔 존재하에서 ABC transportor, Mn²⁺/Fe²⁺ transporter 및 β-hexosaminidase 유전자에 해당하는 RNA들이 괄목하게 유도되는 것이 확인되었다. 그러므로 유기용매 내성 세균 Pseudomonas sp. BCNU 106이 유기용매에 대하여 내성을 나타내는데 있어서 방어 메커니즘, 세포내 이온 항상성 그리고 바이오 필름 형성이 필수적인 것으로 확인되었다.

• 한국초지조사료학회지
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• 제43권1호
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• pp.42-49
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• 2023

The plant-specific NAC transcription factors control various biological processes, including plant development and stress responses. We have isolated an ANAC032 gene, one of the NAC transcription factor family, which was highly activated by multi-abiotic stresses, including high salt and drought in Arabidopsis. Here, we generated transgenic plants constitutively expressing ANAC032 and its knockout to identify the functional roles of ANAC032 in Arabidopsis under abiotic stress responses. The ANAC032-overexpressing plants showed enhanced tolerance to salinity and drought stresses. The anac032 knockout mutants were observed no significant changes under the high salt and drought conditions. We also monitored the expression of high salt and drought stress-responsive genes in the ANAC032 transgenic plants and anac032 mutant. The ANAC032 overexpression upregulated the expression of stress-responsive genes, RD29A and ERD10, under the stresses. Thus, our data identify that transcription factor ANAC032 plays as an enhancer for salinity and drought tolerance through the upregulation of stress-responsive genes and provides useful genetic traits for generating multi-abiotic stress-tolerant forage crops.

• Mycobiology
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• 제49권4호
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• pp.297-307
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• 2021

A cordycipitoid fungus infecting Hepialidae sp. in Nepal was supposed to be identical to Cordyceps liangshanensis, originally described from southwestern China, and thus, transferred to the genus Metacordyceps or Papiliomyces in previous studies. However, our multi-gene (nrSSU-nrLSU-tef-1α-rpb1-rpb2) phylogenetic and morphological studies based on the type specimen and additional collections of C. liangshanensis revealed that the fungus belongs to the genus Ophiocordyceps (Ophiocordycipitaceae). Therefore, a new combination O. liangshanensis was made, and a detailed description of this species was provided.

• 한국균학회지
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• 제51권3호
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• pp.239-243
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• 2023

The Golovinomyces biocellatus complex is known to consist of powdery mildew from the Golovinomyces genus, associated with host plants from the Lamiaceae family. Recent molecular phylogenetic analyses have resolved the taxonomic composition of this complex, and Golovinomyces biocellatus sensu stricto is considered to be a pathogen of Glechoma species, globally. However, this paper presents a new finding of Golovinomyces salviae on Glechoma longituba, besides its original host species of Salvia. This information was inferred by molecular phylogenetic analyses from the multi-locus nucleotide sequence dataset of intergeneric spacer (IGS), internal transcribed spacer (ITS), large subunit (LSU) of rDNA, and glyceraldehyde-3-phosphate dehydrogenase (GAPDH) gene. Further, the asexual morphology of this fungus is described and illustrated.

• 생명과학회지
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• 제15권1호
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• pp.124-131
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• 2005

세포주기 조절에서 유전자 발현의 조절은 매우 중요한 부분이다. 본 연구에서는 인간의 유전자인 SMARCADl과 상동성을 가지는 분열형 효모의 새로운 유전자 $mas3^+$를 분리하였다. 이 두 유전자는 $87\%$의 상동성을 보인다. $mas3^+$유전자는 DEAD/H box를 포함한 7개의 motif를 가지고 있어서 helicase superfamily 중에서도 SNF2 family에 속한다. kanMX6를 선별 표지로 이용하여 $mas3^+$유전자 결손 세포를 구성하였고 $mas3^+$ 유전자 결손 세포는 UV와 MMS처리 실험에서 정상의 세포와 생존율이 비슷하여 DNA상해회복과는 관련이 없음을 알 수 있었다. $mas3^+$ 유전자의 세포주기별 발현 양을 분석한 결과 $G_2$단계부터 점차적으로 발현양이 늘어났다. $mas3^+$결손 돌연변이를 $26^{\circ}C$와 $35^{\circ}C$에서 배양한 결과, 비정상적인 세포질 분열 과정으로 인해 다중 격막 세포의 빈도가 증가하였다. 이상의 결과들은 $mas3^+$유전자는 세포질 분열과 세포형태 형성에 연관되어 있음을 시사한다.

• BMB Reports
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• 제40권5호
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• pp.791-800
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• 2007

Ethylene performs an important function in plant growth and development. 1-aminocyclopropane-1-carboxylate (ACC) synthase (ACS), the key enzyme involved in ethylene biosynthesis, has been the focus of most ethylene studies. Here, a cotton ACS gene referred to as Gossypium hirsutum ACS1 (GhACS1), was isolated. The full-length cDNA of GhACS1 encodes for a 476-amino acid protein which harbors seven conserved regions, 11 invariant amino acid residues, and the PLP binding active site, all of which characterize ACC synthases. Alignment analysis showed that GhACS1 shared a high degree of identity with other known ACC synthases from different species. Two introns were detected in the genomic DNA sequence, and the results of Southern blot analysis suggested that there might be a multi-gene family encoding for ACC synthase in cotton. From the phylogenetic tree constructed with 24 different kinds of ACC synthases, we determined that GhACS1 falls into group II, and was closely associated with the wound-inducible ACS of citrus. The analysis of the 5' flanking region of GhACS1 revealed a group of putative cis-acting elements. The results of expression analysis showed that GhACS1 displayed its transient expression nature after wounding, abscisic acid (ABA), and $CuCl_2$ treatments. These results indicate that GhACS1, which was transiently expressed in response to certain stimuli, may be involved in the production of ethylene for the transmission of stress signals.

• 한국약용작물학회지
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• 제13권5호
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• pp.270-275
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• 2005

Superoxide dismutases (SOD) are metalloenzymes that convert $O_2^-\;to\;H_2O_2$. Rehmannia glutinosa is highly tolerant to paraquat-induced oxidative stress. The primary objective of this study was to characterize regulation of SOD gene expression in R. glutinosa in response to oxidative stresses and hormones. A full-length putative SOD clone (RgCu-ZnSOD1) was isolated from the leaf cDNA library of R. glutinosa using an expressed sequence tag clone as a probe. RgCu-ZnSOD1 cDNA is 777 bp in length and contains an open reading frame for a polypeptide consisted of 152 amino acid residues. The deduced amino acid sequence of the clone shows highest sequence similarity to the cytosolic Cu-ZnSODs. The two to three major bands with several minor ones on the Southern blots indicate that RgCu-ZnSOD1 is a member of a small multi-gene family. RgCuZnSOD1 mRNA was constitutively expressed in the leaf, flower and root. The expression of RgCu-ZnSOD1 mRNA was increased about 20% by wounding and paraquat, but decreased over 50% by ethylene and $GA_3$. This result indicates that the RgCu-ZnSOD1 expression is regulated differentially by different stresses and phytohormones at the transcription level. The RgCu-ZnSOD1 sequence and information on its regulation will be useful in investigating the role of SOD in the paraquat tolerance of R. glutinosa.