• Title/Summary/Keyword: Single gene

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Association between Interleukin 31 Receptor A Gene Polymorphism and Schizophrenia in Korean Population

  • Ban, Ju-Yeon;Kim, Su-Kang;Kim, Hak-Jae;Chung, Joo-Ho;Kim, Tae;Park, Jin-Kyung;Park, Hyun-Kyung;Kim, Jong-Woo
    • The Korean Journal of Physiology and Pharmacology
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    • v.12 no.4
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    • pp.205-209
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    • 2008
  • Recently, Sun et al (2008) reported that the IL6R polymorphism is associated with schizophrenia. Therefore, to detect the association between polymorphisms of interleukin 31 receptor A (IL31RA) and schizophrenia, we genotyped 9 SNPs [rs9292101 (intron 1), rs1009639 (exon 2, Pr043Pro), rs2161582 (intron 2), rs68761890 (intron 5), rs16884629 (intron 6), rs11956465 (intron 12), rs12153724 (intron 12), and rs16884641 (intron 14)] using the Golden Gate assay on Illumina BeadStation 500 GX. Two hundred eighteen patients with schizophrenia and 379 normal subjects were recruited. Patients with schizophrenia were diagnosed according to DSM-IV, and control subjects without history of psychiatric disorders were selected. We used SNPStats, Haploview, HapAnalyzer, SNPAnalyzer, and Helixtree programs for the evaluation of genetic data. Of nine polymorphisms, three SNPs (rs9292101, rs1009639, and rs11956465) were associated with schizophrenia. The rs9292101 and rs11956465 showed significant associations with the risk of schizophrenia in the codominant [rs9292101, odds ratio (OR)=0.74, 95% confidence interval (CI)=0.58${\sim}$0.95, p=0.017] and recessive (rs11956465, OR=0.64, 95% CI=0.42${\sim}$0.96, p=0.034) models, respectively. The rs1009639 also was statistically related to schizophrenia in both codominant (OR=0.76, 95% CI=0.60${\sim}$0.97, p=0.025) and dominant (OR=0.66, 95% CI=0.44${\sim}$0.98, p=0.035) models. Two linkage disequilibrium (LD) blocks were made. In the analysis of haplotypes, a haplotype (GCT) in block 1 and a haplotype (CCACAG) in block 2 showed significant associations between schizophrenia and control groups (haplotype GCT, frequency=0.509, chi square=4.199, p=0.040; haplotype CCACAG, frequency=0.289, chi square=5.691, p=0.017). The results suggest that IL31RA may be associated with risk of schizophrenia in Korean population.

Effects of Paf1 complex components on H3K4 methylation in budding yeast (출아효모에서 Paf1 복합체의 구성원들이 H3의 네번째 라이신의 메틸화에 미치는 영향)

  • Oh, Jun-Soo;Lee, Jung-Shin
    • Korean Journal of Microbiology
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    • v.52 no.4
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    • pp.487-494
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    • 2016
  • In Saccharomyces cerevisiae, Paf1 complex consists of five proteins, and they are structurally and functionally well conserved in yeast, fruit fly, plants, and human. With binding to RNA polymerase II from transcription start site to termination site, Paf1 complex functions as a platform for recruiting many types of transcription factors to RNA polymerase II. Paf1 complex contributes to H2B ubiquitination and indirectly influences on H3K4 di- and tri-methylation by histone crosstalk. But the individual effects of five components in Paf1 complex on these two histone modifications including H2B ubiquitination and H3K4 methylation largely remained to be identified. In this study, we constructed the single-gene knockout mutants of each Paf1 complex component and observed H3K4 mono-, di-, and trimethylation as well as H2B ubiquitination in these mutants. Interestingly, in each ${\Delta}paf1$, ${\Delta}rtf1$, and ${\Delta}ctr9$ strain, we observed the dramatic defect in H3K4 monomethylation, which is independent of H2B ubiquitination, as well as H3K4 di- and trimethylation. However, the protein level of Set1, which is methyltransferase for H3K4, was not changed in these mutants. This suggests that Paf1 complex may directly influence on H3K4 methylation by directly regulating the activity of Set1 or the stability of Set1 complex in an H2B ubiquitination independent manner.

Uncoupling Protein 3 in the Rainbow Trout, Oncorhynchus mykiss Sequence, Splicing Variants, and Association with the AvaIII SINE element

  • Kim, Soon-Hag;Choi, Cheol-Young;Hwang, Joo-Yeon;Kim, Young-Youl;Park, Chan;Oh, Berm-Seok;Kimm, Ku-Chan;Scott A. Gahr;Sohn, Young-Chang
    • Journal of Aquaculture
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    • v.17 no.1
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    • pp.1-7
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    • 2004
  • A rainbow trout uncoupling protein 3 (UCP3) cDNA clone, encoding a 310 amino acid protein, was cloned and sequenced from a liver cDNA library. Two different splice variants designated UCP3-vl and UCP3-v2, were identified through liver cDNA library screening using rainbow trout UCP3 cDNA clone as a probe. UCP3-vl has 3 insertions in the UCP3 cDNA: the first insertion (133 bp), the second (141 bp), and the third (370 bp) were located 126 bp, 334 bp and 532 bp downstream from the start codon, respectively. UCP3-v2 contained a single insertion, identical in sequence and location to the second insertion of UCP3-vl. UCP3, a mitochondrial protein, functions to modulate the efficiency of oxidative phosphorylation. UCP3 has been detected from heart, testis, spinal cord, eye, retina, colon, muscle, brown adipose tissue and white adipose tissue in mammalian animals. Human and rodent UCP3s are highly expressed in skeletal muscle and brown adipose tissue, while they show weak expression of UCP3 in heart and white adipose tissue. In contrast to mammalian studies, RT-PCR and Southern blot analysis of the rainbow trout demonstrated that UCP3 is strongly expressed in liver and heart. UCP3, UCP3-vl, and UCP3-v2 all contain an Ava III short interspersed element (SINE), located in the 3'untraslated region (UTR). PCR using primers from the Ava III SINE and the UCP3 3'UTR region indicates that the UCP3 cDNA is structurally conserved among salmonids and that these primers may be useful for salmonid species genotyping.

Genetic Analysis of Pigmentation Pattern in the Leopard Danio (Leopard danio 반문의 유전 양상과 생존율에 미치는 영향)

  • 이병문;강거영;송춘복
    • Journal of Aquaculture
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    • v.11 no.3
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    • pp.353-361
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    • 1998
  • Genetic analysis of body pigmentation pattern has been conducted by the reciprocal monohybrid and back crosses using the wild type zebrafish, Danio rerio, and its aquarium morphs (mutants), leopard danio. Also, the effect fo pigmentation mutation was investigated with regard to the survival rates of eggs and larvae for the first 15 days after fertilization. As a result, the pattern pigment distribution was inherited by a single gene having two alleles, and which was basically followed by the principle of dominace and segregaion in Mendelian inheritance. A locus for pigment pattern turned out to be located on an autosomal chromosome. Average survival rates estimated from the various crosses between, and within, wild type zebrafish and leopard danio were as follows ; they were 80.6${\pm}$4.8% from the crosses within leopard danios ($L{\times}L$), 70.6${\pm}$4.2% between leopard female and wild type male ($L{\times}Z$), 73.2${\pm}$2.0% between wild type female and leopard male ($Z{\times}L$), and 83.8${\pm}$6.7% within wild type zebrafish ($Z{\times}Z$). These results indicated that the leopard danio, which were reported as an "aquarium morph" several decades ago and also known as a mutant in pigmentation pattern of the wild type zebrafish, seemed to be genetically stable like the wild type of zebrafish.zebrafish.

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Isolation and Characterization of a Formate Dehydrogenase cDNA in Poplar (Populus alba ${\times}$ P. glandulosa) (현사시나무에서 Formate Dehydrogenase cDNA의 분리와 특성 구명)

  • Bae, Eun-Kyung;Lee, Hyoshin;Lee, Jae-Soon;Choi, Young-Im;Yoon, Seo-Kyung;Eo, Soo Hyung
    • Journal of Korean Society of Forest Science
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    • v.102 no.3
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    • pp.331-337
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    • 2013
  • Formate dehydrogenase (FDH), catalyzing the oxidation of the formate ion to carbon dioxide, is known as the stress protein in response to drought, low temperature and pathogen infection. To study the functions of FDH in poplar (Populus alba ${\times}$ P. glandulosa), we isolated a FDH cDNA (PagFDH1) and examined its expressional characteristics. The PagFDH1 is 1,499 base pairs long and encodes a putative 388 amino acid protein with an expected molecular mass of 42.5 kDa. The PagFDH1 protein has N-terminal mitochondria signal peptide and $NAD^+$ binding domain. Southern blot analysis indicated that a single copy of the PagFDH1 is present in the poplar genome. PagFDH1 is expressed highly in the suspension cells (especially in the lag and early exponential phases) and moderately in roots, flowers and leaves. ABA-mediated enhanced expression of PagFDH1 in response to drought and salt stress treatments indicates that the gene product could play an important role in the development of stress resistant trees.

Conservative Genes of Less Orthologous Prokaryotes (Orthologs 수가 적은 원핵생물들의 보존적 유전자)

  • Lee, Dong-Geun
    • Journal of Life Science
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    • v.27 no.6
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    • pp.694-701
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    • 2017
  • Mycoplasma genitalium represents the smallest genome among mono-cultivable prokaryotes. To discover and compare the orthologs (conservative genes) among M. genitalium and 14 prokaryotes that are uncultivable and have less orthologs than M. genitalium, COG (clusters of orthologous groups of protein) analyses were applied. The analyzed prokaryotes were M. genitalium, one hyperthermophilic exosymbiotic archaeon Nanoarchaeum equitans, four intracellular plant pathogenic eubacteria of Candidatus Phytoplasma genus, and nine endosymbiotic eubacteria of phloem- and xylem-feeding insects. Among 367 orthologs of M. genitalium, 284 orthologs were conservative between M. genitalium and at least one other prokaryote. All 15 prokaryotes commonly have 29 orthologs, representing the significance of proteins in life. They belong to 25 translation-related, including 22 ribosomal proteins, 3 subunits of RNA polymerase, and 1 protein-folding-related. Among the 15 prokaryotes, 40 orthologs were only found in all four Candidatus Phytoplasma. The other nine Candidatus, all endosymbionts with insects, showed only a single common COG0539 (ribosomal protein S1), representing the diversity of orthologs among them. These results might provide clues to understand conservative genes in uncultivable prokaryotes, and may be helpful in industrial areas, such as handling prokaryotes producing amino acids and antibiotics, and as precursors of organic synthesis.

Deletion of the VPS26b-VPS29-VPS35 Retromer Complex Results in Learning Disabilities and Neurodegeneration (VPS26b-VPS29-VPS35 리트로머 복합체 결여가 마우스 뇌조직에 미치는 영향)

  • Kim, Ekyune
    • Journal of Life Science
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    • v.30 no.8
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    • pp.708-712
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    • 2020
  • Vacuolar protein sorting (VPS) 26b is a newly discovered member of the retromer complex; it is encoded by a single-copy gene located on mouse chromosome 9, and the complex has been reported as being composed of proteins VPS26, VPS29, and VPS35. We have previously shown that mice lacking VPS26b exhibited no significant body size or health issues. Although retromer components are widely expressed in mouse tissue, their roles have not yet been completely elucidated. The current study investigates whether the VPS26b-associated retromer complex can be used as a neurodegeneration model. Previously, we observed a significant reduction in VPS35 and VPS29 in the brain cells of in VPS26b-deficient mice as well as an absence of the VPS26b-VPS29-VPS35 retromer complex despite the normal presence of VPS26a-VPS29-VPS35. Recent studies have suggested that low levels of VPS35 can lead to Alzheimer's disease-like phenotypes including cognitive memory deficits. In this study, we successfully demonstrate an association between the absence of the VPS26b-VPS29-VPS35 retromer complex, reduced cell density in the CA3 region of the hippocampus, and learning disability in VPS26b knock-out mice. The results also indicate that the VPS26b-associated retromer complex affects neurodegenerative disorders and learning processes.

Identification of QTLs for Some Agronomic Traits in Rice Using an Introgression Line from Oryza minuta

  • Rahman, Md Lutfor;Chu, Sang Ho;Choi, Min-Sun;Qiao, Yong Li;Jiang, Wenzhu;Piao, Rihua;Khanam, Sakina;Cho, Young-Il;Jeung, Ji-Ung;Jena, Kshirod K.;Koh, Hee-Jong
    • Molecules and Cells
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    • v.24 no.1
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    • pp.16-26
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    • 2007
  • Wild progenitor species provide potential gene sources for complex traits such as yield and multiple resistances to biotic and abiotic stresses, and thus are expected to contribute to sustainable food supplies. An introgression line 'IR71033-121-15' was derived from a wild species Oryza minuta (2n = 48, BBCC, Acc No. 101141) at IRRI. Introgression analysis using 530 SSR and STS markers revealed that at least 14 chromosomal segments distributed over 12 chromosomes had been introgressed from O. minuta. An $F_{2:3}$ population from the cross between IR71033 and Junambyeo (a Korean japonica cultivar) consisting of 146 lines was used for quantitative trait loci (QTL) analysis of 16 agronomic traits. A total of 36 single-locus QTLs (S-QTLs) and 45 digenic epistasis (E-QTLs) were identified. In spite of it's inferiority of O. minuta for most of the traits studied, its alleles contributed positively to 57% of the QTLs. The other QTLs originated from either parent, IR71033 or Junambyeo. QTLs for phenotypically correlated traits were mostly detected on introgressed segments. Fourteen QTLs corresponded to QTLs reported earlier, indicating that these QTLs are stable across genetic backgrounds. Twenty-two QTLs controlling yield and its components had not been detected in previous QTL studies. Of these, thirteen consisted of potentially novel alleles from O. minuta. QTLs from O. minuta introgression could be new sources of natural variation for the genetic improvement of rice.

The Significance of SDF-1α-CXCR4 Axis in in vivo Angiogenic Ability of Human Periodontal Ligament Stem Cells

  • Bae, Yoon-Kyung;Kim, Gee-Hye;Lee, Jae Cheoun;Seo, Byoung-Moo;Joo, Kyeung-Min;Lee, Gene;Nam, Hyun
    • Molecules and Cells
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    • v.40 no.6
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    • pp.386-392
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    • 2017
  • Periodontal ligament stem cells (PDLSCs) are multipotent stem cells derived from periodontium and have mesenchymal stem cell (MSC)-like characteristics. Recently, the perivascular region was recognized as the developmental origin of MSCs, which suggests the in vivo angiogenic potential of PDLSCs. In this study, we investigated whether PDLSCs could be a potential source of perivascular cells, which could contribute to in vivo angiogenesis. PDLSCs exhibited typical MSC-like characteristics such as the expression pattern of surface markers (CD29, CD44, CD73, and CD105) and differentiation potentials (osteogenic and adipogenic differentiation). Moreover, PDLSCs expressed perivascular cell markers such as NG2, ${\alpha}-smooth$ muscle actin, platelet-derived growth factor receptor ${\beta}$, and CD146. We conducted an in vivo Matrigel plug assay to confirm the in vivo angiogenic potential of PDLSCs. We could not observe significant vessel-like structures with PDLSCs alone or human umbilical vein endothelial cells (HUVECs) alone at day 7 after injection. However, when PDLSCs and HUVECs were co-injected, there were vessel-like structures containing red blood cells in the lumens, which suggested that anastomosis occurred between newly formed vessels and host circulatory system. To block the $SDF-1{\alpha}$ and CXCR4 axis between PDLSCs and HUVECs, AMD3100, a CXCR4 antagonist, was added into the Matrigel plug. After day 3 and day 7 after injection, there were no significant vessel-like structures. In conclusion, we demonstrated the perivascular characteristics of PDLSCs and their contribution to in vivo angiogenesis, which might imply potential application of PDLSCs into the neovascularization of tissue engineering and vascular diseases.

Detection and Type-Distribution of Human Papillomavirus in Vulva and Vaginal Abnormal Cytology Lesions and Cancer Tissues from Thai Women

  • Ngamkham, Jarunya;Boonmark, Krittika;Phansri, Thainsang
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.3
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    • pp.1129-1134
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    • 2016
  • Vulva and Vaginal cancers are rare among all gynecological cancers worldwide, including Thailand, and typically affect women in later life. Persistent high risk human papillomavirus (HR-HPV) infection is one of several important causes of cancer development. In this study, we focused on HPV investigation and specific type distribution from Thai women with abnormality lesions and cancers of the vulva and Vaginal. A total of ninety paraffin-embedded samples of vulva and Vaginal abnormalities and cancer cells with histologically confirmed were collected from Thai women, who were diagnosed in 2003-2012 at the National Cancer Institute, Thailand. HPV DNA was detected and genotyped using polymerase chain reaction and enzyme immunoassay with GP5+/bio 6+ consensus specific primers and digoxigenin-labeled specific oligoprobes, respectively. The human ${\beta}$-globin gene was used as an internal control. Overall results represented that HPV frequency was 16/34 (47.1%) and 8/20 (40.0%) samples of vulva with cancer and abnormal cytology lesions, respectively, while, 3/5 (60%) and 16/33 (51.61%) samples of Vaginal cancer and abnormal cytology lesions, respectively, were HPV DNA positive. Single HPV type and multiple HPV type infection could be observed in both type of cancers and abnormal lesion samples in the different histological categorizes. HPV16 was the most frequent type in all cancers and abnormal cytology lesions, whereas HPV 18 was less frequent and could be detected as co-infection with other high risk HPV types. In addition, low risk types such as HPV 6, 11 and 70 could be detected in Vulva cancer and abnormal cytology lesion samples, whereas, all Vaginal cancer samples exhibited only high risk HPV types; HPV 16 and 31. In conclusion, from our results in this study we suggest that women with persistent high risk HPV type infection are at risk of developing vulva and Vaginal cancers and HPV 16 was observed at the highest frequent both of these, similar to the cervical cancer cases. Although the number of samples in this study was limited and might not represent the overall incidence and prevalence in Thai women, but the baseline data are of interest and suggest further study for primary cancer screening and/or developing the efficiency of prophylactic HPV vaccines in Thailand.