• Title/Summary/Keyword: Candidate gene

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Genetic Polymorphisms of Candidate Loci and Inheritance Ppatterns of Gray Coat Color in Jeju Horses. (제주마에서 총마 모색의 유전 양성과 후보 유전좌위의 유전적 다형성)

  • Han, Sang-Hyun;Lee, Chong-Eon;Kim, Nam-Young;Ko, Moon-Suck;Jeong, Ha-Yeon;Lee, Sung-Soo
    • Journal of Life Science
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    • v.19 no.6
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    • pp.793-798
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    • 2009
  • This study was undertaken to reveal the relationship between genetic variations and inheritance patterns and the development of a systemic white coat color frequently observed in Jeju horses. It was determined that the white coat color occurred in all basic coat colored (black, bay and chestnut) horses by combining the phenotype and MC1R genotypes. There were no polymorphisms found in Jeju horses tested for mutational loci in the KIT gene, which were previously reported as potential mutations of the congenital dominant white coat color in other horse breeds in heterogeneity. The horses that had the 4.6-kb duplication in the STX17 intron 6 specifically showed the depigmented white coat color. Based on observation and STX17 genotypes, this depigmented whitening is defined as 'Chongma' (whitening, progressive graying with age-Gray) in Jeju horses. Pedigrees showed that this is an autosomal dominant inheritance pattern distinct from the bovine albinism caused by an autosomal recessive passion eye color. Because the gray phenotype is generally not completely expressed early in Jeju horses, it often makes them indistinguishable from other horses. Further studies are recommended for classification between the gray coat color and its similar phenotypes, such as the roan with its mixed hair colors appearing since neonatal period, acquired white hairs on wounded skin by veterinary treatment, and vitiligo-like skin pigmentation. However, study results revealing the relationship between the gray phenotype and genetic background suggested that useful information may be provided in regards to molecular breeding of Jeju horses.

Cilostazol Promotes the Migration of Brain Microvascular Endothelial Cells (Cilostazol에 의한 뇌혈관내피세포의 세포이동 증진 효과연구)

  • Lee, Sae-Won;Park, Jung Hwa;Shin, Hwa Kyoung
    • Journal of Life Science
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    • v.26 no.12
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    • pp.1367-1375
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    • 2016
  • Cilostazol is known to be a selective inhibitor of phosphodiesterase III and is generally used to treat stroke. Our previous findings showed that cilostazol enhanced capillary density through angiogenesis after focal cerebral ischemia. Angiogenesis is an important physiological process for promoting revascularization to overcome tissue ischemia. It is a multistep process consisting of endothelial cell proliferation, migration, and tubular structure formation. Here, we examined the modulatory effect of cilostazol at each step of the angiogenic mechanism by using human brain microvascular endothelial cells (HBMECs). We found that cilostazol increased the migration of HBMECs in a dose-dependent manner. However, it did not enhance HBMEC proliferation and capillary-like tube formation. We used a cDNA microarray to analyze the mechanisms of cilostazol in cell migration. We picked five candidate genes that were potentially related to cell migration, and we confirmed the gene expression levels by real-time PCR. The genes phosphoserine aminotransferase 1 (PSAT1) and CCAAT/enhancer binding protein ${\beta}$ ($C/EBP{\beta}$) were up-regulated. The genes tissue factor pathway inhibitor 2 (TFPI2), retinoic acid receptor responder 1 (RARRES1), and RARRES3 were down-regulated. Our observations suggest that cilostazol can promote angiogenesis by promoting endothelial migration. Understanding the cilostazol-modulated regulatory mechanisms in brain endothelial cells may help stimulate blood vessel formation for the treatment of ischemic diseases.

Isolation and Identification of Stenotrophomonas maltophilia BW-13 Active Against Rhizoctonia solani Causing Crisphead Lettuce Bottom Rot (Rhizoctonia solani에 의한 결구상추 밑둥썩음병 방제균주 Stenotrophomonas maltophilia BW-13의 분리 및 동정)

  • Kim Han-Woo;Park Jong-Young;Kim Hyun-Ju;Lee Kwang-Youll;Lee Jin-Woo;Choi Woobong;Lee Seon-Woo;Moon Byung-Ju
    • Research in Plant Disease
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    • v.11 no.2
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    • pp.152-157
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    • 2005
  • In a course of searching for biofungicide to control crisphead lettuce bottom rot caused by Rhizoctonia solani, we have isolated an antagonistic bacterium from lettuce rhisophere soil. A total of 702 bacterial isolates were isolated and tested for in vitro growth inhibition of R. solani. Seven strains appeared to have strong antagonistic effect against R. solani in in vitro growth inhibition assay. In the pot experiments, a strain BW-13 showed the most potent disease control effect on the both lettuce seedlings and adults plants. Therefore, the BW-13 was selected as a biocotrol candidate against crisphead lettuce bottom rot. Based on its morphology, physiological characteristics, and 165 rRNA gene analysis, the BW-13 was finally identified as Stenotrophomonas maltophilia. This study indicated that S. maltophilia BW-13 could be used as a biocontrol agent to control crisphead lettuce bottom rot.

Integrative Study on PPARGC1A: Hypothalamic Expression of Ppargc1a in ob/ob Mice and Association between PPARGC1A and Obesity in Korean Population

  • Hong, Mee-Suk;Kim, Hye-Kyung;Shin, Dong-Hoon;Song, Dae-Kyu;Ban, Ju Yeon;Kim, Bum Shik;Chung, Joo-Ho
    • Molecular & Cellular Toxicology
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    • v.4 no.4
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    • pp.318-322
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    • 2008
  • Obesity is an increasing worldwide health problem that is strongly related to the imbalance of food intake and energy metabolism. It was well-known that several substances in the hypothalamus regulate food intake and energy metabolism. We planned an integrative study to elucidate the mechanism of the development of obesity. Firstly, to find candidate genes with the marvelous effect, the different expression in the hypothalamus between ob/ob and 48-h fasting mice was investigated by using DNA microarray technology. As a result, we found 3 genes [peroxisome proliferator activated receptor, gamma, coactivator 1 alpha (Ppargc1a), calmodulin 1 (Calm1), and complexin 2 (Cplx2)] showing the different hypothalamic expression between ob/ob and 48-h fasting mice. Secondly, a genetic approach on PPARGC1A gene was performed, because PPARGC1A acts as a transcriptional coactivator and a metabolic regulator. Two hundred forty three obese female patients with body mass index (BMI)${\geq}$25 and 285 control female subjects with BMI 18 to<23 were recruited according to the Classification of Korean Society for the Study of Obesity. Among the coding single nucleotide polymorphisms (cSNPs) of PPARGC1A, 2 missense SNPs (rs8192678, Gly482Ser; rs3736265, Thr612Met) and 1 synonymous SNP (rs3755863, Thr528Thr) were selected, and analyzed by PCR-RFLP and pyrosequencing. For the analysis of genetic data, chi-square ($X^2$) test and EH program were used. The rs8192678 was significantly associated with obese women (P<0.0006; odds ratio, 1.5327; 95% confidence interval, 1.2006-1.9568). Haplotypes also showed significant association with obese women ($X^2$=33.28, P<0.0008). These results suggest that PPARGC1A might be related to the development of obesity.

Marker Assisted Selection-Applications and Evaluation for Commercial Poultry Breeding

  • Sodhi, Simrinder Singh;Jeong, Dong Kee;Sharma, Neelesh;Lee, Jun Heon;Kim, Jeong Hyun;Kim, Sung Hoon;Kim, Sung Woo;Oh, Sung Jong
    • Korean Journal of Poultry Science
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    • v.40 no.3
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    • pp.223-234
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    • 2013
  • Poultry industry is abounding day by day as it engrosses less cost of investment per bird as compared to large animals. Poultry have the most copious genomic tool box amongst domestic animals for the detection of quantitative trait loci (QTL) and marker assisted selection (MAS). Use of multiple markers and least square techniques for mapping of QTL affecting quality and production traits in poultry is in vogue. Examples of genetic tests that are available to or used in industry programs are documented and classified into causative mutations (direct markers), linked markers in population-wide linkage disequilibrium (LD) with the QTL (LD markers), and linked markers in population wide equilibrium with the QTL (LE markers). Development of genome-wide SNP assays, role of 42 K, 60 K (Illumina) and 600 K (Affymetrix$^{(R)}$ Axim$^{(R)}$) SNP chip with next generation sequencing for identification of single nucleotide polymorphism (SNP) has been documented. Hybridization based, PCR based, DNA chip and sequencing based are the major segments of DNA markers which help in conducting of MAS in poultry. Economic index-marker assisted selection (EI-MAS) provides platform for simultaneous selection for production traits while giving due weightage to their marginal economic values by calculating predicted breeding value, using information on DNA markers which are normally associated with relevant QTL. Understanding of linkage equilibrium, linkage dis-equilibrium, relation between the markers and gene of interest are quite important for success of MAS. This kind of selection is the most useful tool in enhancing disease resistance by identifying candidate genes to improve the immune response. The application of marker assisted selection in selection procedures would help in improvement of economic traits in poultry.

Transcriptome profiling and comparative analysis of Panax ginseng adventitious roots

  • Jayakodi, Murukarthick;Lee, Sang-Choon;Park, Hyun-Seung;Jang, Woojong;Lee, Yun Sun;Choi, Beom-Soon;Nah, Gyoung Ju;Kim, Do-Soon;Natesan, Senthil;Sun, Chao;Yang, Tae-Jin
    • Journal of Ginseng Research
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    • v.38 no.4
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    • pp.278-288
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    • 2014
  • Background: Panax ginseng Meyer is a traditional medicinal plant famous for its strong therapeutic effects and serves as an important herbal medicine. To understand and manipulate genes involved in secondary metabolic pathways including ginsenosides, transcriptome profiling of P. ginseng is essential. Methods: RNA-seq analysis of adventitious roots of two P. ginseng cultivars, Chunpoong (CP) and Cheongsun (CS), was performed using the Illumina HiSeq platform. After transcripts were assembled, expression profiling was performed. Results: Assemblies were generated from ~85 million and ~77 million high-quality reads from CP and CS cultivars, respectively. A total of 35,527 and 27,716 transcripts were obtained from the CP and CS assemblies, respectively. Annotation of the transcriptomes showed that approximately 90% of the transcripts had significant matches in public databases.We identified several candidate genes involved in ginsenoside biosynthesis. In addition, a large number of transcripts (17%) with different gene ontology designations were uniquely detected in adventitious roots compared to normal ginseng roots. Conclusion: This study will provide a comprehensive insight into the transcriptome of ginseng adventitious roots, and a way for successful transcriptome analysis and profiling of resource plants with less genomic information. The transcriptome profiling data generated in this study are available in our newly created adventitious root transcriptome database (http://im-crop.snu.ac.kr/transdb/index.php) for public use.

Phylogenetic diversity and UV resistance analysis of radiation-resistant bacteria isolated from the water in Han River (한강물로부터 분리된 방사선 내성 세균들의 계통학적 다양성 및 UV 내성 분석)

  • Lee, Jae-Jin;Joo, Eun Sun;Lee, Do Hee;Jung, Hee-Young;Kim, Myung Kyum
    • Korean Journal of Microbiology
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    • v.52 no.1
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    • pp.65-73
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    • 2016
  • The aim of this study was to investigate the UV-resistance of radiation-resistant bacteria isolated from the water of Han River, South Korea. The water sample was irradiated with 3 kGy gamma radiation prior to isolation. Radiation-resistant bacterial strains were isolated by standard serial dilution method on R2A and 1/10 diluted R2A agar. The resulting purely isolated 60 cultures of bacteria were analysed for UV resistance and used in further studies. Based on the comparative analyses of 16S rRNA gene sequences, the bacterial isolates were divided into 3 phyla (4 genera): the phylum Deinococcus-Thermus (the genus Deinococcus) was 61.7%, Bacteroidetes (Hymenobacter and Spirosoma) was 23.4%, and Firmicutes (Exiguobacterium) was 15%. The results suggested that twenty-nine isolates are candidates new species belonging to Deinococcus, Hymenobacter, and Spirosoma, or other new genera. Nine bacterial strains were selected among the novel candidates and the UV-resistance analysis was conducted. All the candidate bacterial strains showed high UV resistance, similar to that of D. radiodurans R1.

Anti-skin Aging Potential of Alcoholic Extract of Phragmites communis Rhizome

  • Ha, Chang Woo;Kim, Sung Hyeok;Lee, Sung Ryul;Jang, Sohee;Namkoong, Seung;Hong, Sungsil;Lim, Hyosun;Kim, Youn Kyu;Sohn, Eun-Hwa
    • Korean Journal of Plant Resources
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    • v.33 no.6
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    • pp.604-614
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    • 2020
  • Chronological aging and photoaging affect appearance, causing wrinkles, pigmentation, texture changes, and loss of elasticity in the skin. Phragmites communis is a tall perennial herb used for its high nutritional value and for medicinal purposes, such as relief from fever and vomiting and facilitation of diuresis. In this study, we investigated the effects of ethanol extract of P. communis rhizome (PCE) on skin aging. The total flavonoid and total phenolic content in PCE were 2.92 ± 0.007 ㎍ of quercetin equivalents (QE) and 231.8 ± 0.001 ㎍ of gallic acid equivalents (GAE) per 100 mg of dried extract (n = 3). The half-maximal inhibitory concentration (IC50) values of PCE for 2,2-diphenyl-1-picrylhydrazyl radical (DPPH) and hydrogen peroxide scavenging activities were 0.96 and 0.97 mg/mL, respectively. PCE showed inhibitory effects on tyrosinase when L-tyrosine (IC50 = 1.25 mg/mL) and L-3,4-dihydroxyphenylalanine (IC50 = 0.92 mg/mL) were used as substrates. PCE treatment up to 200 ㎍/mL for 24 h did not cause any significant cytotoxicity in B16F10 melanocytes, human dermal fibroblasts (HDFs), and HaCaT keratinocytes. In B16F10 melanocytes, PCE (25 and 50 ㎍ /mL) inhibited melanin production and cellular tyrosinase activity after challenge with α-melanocyte-stimulating hormone (α-MSH; p < 0.05). In HDFs, PCE suppressed the mRNA expression of matrix metalloproteinase-1 (MMP-1) and reduced the activity of elastase (p < 0.05). In addition, ultraviolet B (UVB)-mediated downregulation of hyaluronic acid synthase-2 gene expression in HaCaT keratinocytes was also effectively suppressed by PCE treatment. Overall, our results showed that PCE has potential anti-skin aging activity associated with the suppression of hyperpigmentation, wrinkle formation, and reduction in dryness. PCE is a promising candidate for the development of an anti-skin aging cosmetic ingredient.

Relationship Between The Sasang Constitution and Ace Polymophism (사상체질유형과 ACE(angiotensin converting enzyme) 유전자 Type(polymorphism)과의 상관관계)

  • Choi, S.H.;Yim, Y.B.;Rhee, J.W.;Kim, H.Y.;Kang, C.H.
    • Journal of Sasang Constitutional Medicine
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    • v.10 no.2
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    • pp.283-290
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    • 1998
  • Sasang Constitutional Medicine focuses on the different constitutional manifestations of the individual's nature and emotions. The nature and emotions drive the ascending and descending of Qi in the body. And this dynamics of the Qi's ascent and descent shapes the different types of structures, functions and temperaments. Although Sasang Constitutional Medicine has many advantages, its diagnosis of the constitution still depends on the doctors' own idea and has no objective identification. So many doctors in Korea have been trying to solve this problem. Recently, there are several efforts to find out the relationship between genetic information and constitution. By the way, May, 1998 there is a astonishing report about the gene which determines the human performance, that is ACE(angiotensin converting enzyme). And it suggests that the I allele was associated with improved endurance performance. ACE has three genotype including II, ID and DD. "I" means insertion and "D" means deletion. We determined the type of the Sasang constitution with QSCCII questionaire and the one's ACE genotype with PCR of the 127 people and we discovered the relationship between the constitution and the ACE genotype. The result is as follow. Among 39 people who have the II genotype, 7(18%) belong to Taeum(Taiyin), 9(23.1%) belong to Soyang(Shaoyang) and 23(59%) belong to Soeum(Shaoyin). Among 62 people who have the ID genotype, 18(29%) belong to Taeum(Taiyin), 21(33.9%) belong to Soyang(Shaoyang) and 23(37.1%) belong to Soeum(Shaoyin). Among 26 people who have DD genotype, 11(42.3%) belong to Taeum(Taiyin), 4(15.4%) belong to Soyang(Shaoyang) and 11(42.3%) belong to Soeum(Shaoyin). This data indicates that there are implicable relationship between the Sasang constitution and ACE genotype. Especially people who have II genotype have much possibility to be a Soeum(Shaoyin) person (59%) and Soyang(Shaoyang) person have less possibility to have DD genotype (15.4%). With this conclusion, we suggest further study of relationship between the Sasang constitution and ACE genotype and we think that other polymorphism can be a candidate of the partner of Sasang constitution.

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Bioinformatics Analysis of Gene Expression Regulation by Transposable Elements in Dementia Patients (치매환자에서 transposable elements에 의한 유전자 발현조절의 생물정보 분석)

  • Kim, Dae-Soo;Huh, Jae-Won;Ha, Hong-Seok;Kim, Tae-Hong;Jo, Un-Jong;Kim, Heui-Soo
    • Journal of Life Science
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    • v.16 no.7 s.80
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    • pp.1188-1194
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    • 2006
  • Dementia is a progressive disease of increasing the dysfunction of intellectual and physical ability. In the aging society, many families are suffering from the caring the patients who are diagnosed with dementia. However, dementia is a complex disease affected by the genetic and environmental agents. In the present study, we investigated the transposable elements in relation to dementia. From the analysis of dementia EST (expressed sequence tag) sequences, we found dementia candidate genes, and analyzed expression profiles and repeat elements using bioinformatics tools. This analysis showed that 98 genes were affected in their mRNA sequences by transposable elements expression. Their expressions were affected by the integration of different transposable elements (SINE, LINE, LTR, DNA) during the primate evolution. We believe that our work will be of significant interest to genome scientists, and may help them gain insight into implication of transposable elements expression in dementia.