• Journal of Plant Biotechnology
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• v.49 no.4
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• pp.292-2999
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• 2022

Anthocyanin, an important component in the grape berry skin, strongly affects grape quality. The transcription factors VvMYBA1 and VvMYBA2 (VvMYBA1/2) control anthocyanin biosynthesis. In addition, cultivation and environmental factors, such as light, influence anthocyanin accumulation. The present study aimed to clarify the effect of shading (reduced light condition) on the transcriptomic regulation of anthocyanin biosynthesis using a red-wine grape cultivar, Vitis vinifera 'Pinot Noir', and its white mutant, 'Pinot Blanc', caused by the deletion of the red allele of VvMYBA1/2. The grape berry skins were analyzed for anthocyanin content and global gene transcription accumulation. The microarray data were later validated by quantitative real-time PCR. A decisive influence of VvMYBA1/2 on the expression of an anthocyanin-specific gene, UDP glucose: flavonoid 3-O-glucosyltransferase, was observed as expected. In contrast, upstream genes of the pathway, which are shared by other flavonoids, were also expressed in 'Pinot Blanc', and the mRNA levels of some of these genes decreased in both cultivars on shading. Thus, the involvement of light-sensitive transcription factor(s) other than VvMYBA1/2 was suggested for the expression control of the upstream genes of the anthocyanin biosynthetic pathway. Furthermore, it was suggested that the effects of these factors are different among isogenes.

• Proceedings of the Korean Society of Crop Science Conference
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• 2022.10a
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• pp.24-24
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• 2022

This present study was to identify a novel candidate gene that contribute to the elevated α-linolenic acid (ALA, ω-3) concentration in PE2166 from mutagenesis of Pungsannamul. Major loci qALA5_1 and qALA5_2 were detected on chromosome 5 of soybean through quantitative trait loci mapping analyses of recombinant inbred lines. With next generation sequencing of parental lines and Pungsannamul, and recombinant analyses, a potential gene, Glyma. 05g221500 (HD) controlling elevated ALA concentration was identified. HD is a homeodomain-like transcriptional regulator that may regulate the expression level of microsomal ω-3 fatty acid desaturase (FAD3) genes responsible for the conversion of linoleic acid into ALA in the fatty acid biosynthetic pathway. In addition, we hypothesized that combination of mutant alleles, HD and either of microsomal delta-12 fatty acid desaturase 2-1 (FAD2-1\ could reduce the ω-6/ω-3 ratio. In populations where HD, and FAD2-1A and FAD2-1B genes were segregated, combination of a hd allele from PE2166 and either of the variant FAD2-1 alleles were sufficient to reduce the ω-6/ω-3 ratio in seeds.

• Journal of fish pathology
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• v.6 no.2
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• pp.93-101
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• 1993

The RNAI mutation of Saccharomyces cerevisia is a recessive and temperature sensitive lethal mutation which interferes with the production of mRNA, rRNA, and tRNA. However, the precise role of RNAI gene have not been revealed until yet. We have cloned rna1-1 mutant gene from rna1-1 mutant yeast strain(R49 ; trpl, ura3-52, rna1-1). The 3.4kb BglII fragment of wild type RNAI clone(81-2-6) contains whole RNAI gene. The genomic southern blotting with BglII digested R49 genomic DNA as a probe shows the unique and identical band with wild type 3.4kb BglII fragment. Therefore, We prepared partial BglII genomic library(3~4kb BglII fragments) into BamH I site of pUC19. The rna 1-1 mutant clone was screened with Digoxigenin(DIG)-lableled probe by high density colony hybridization. The 5'-flanking region of rna1-1 gene was sequenced by dideoxy chain termination method. The 5'-flanking sequence of RNAI gene contains three TATA-like sequence ; TAATA, TATA and TTTTAA at position of -67, -45, and -36 from first ATG codon respectively. The 5'-flanking region of wild type RNA I gene from ATG codon to -103nt was deleted with Bal31 exonuclease digestion, generating $pUC{\Delta}$/RNA I. After constructing $pYEP{\Delta}RNA$ I (consists of -103nt deleting RNA I gene, URA3 gene, $2{\mu}m$ rep. origin), pYEPrna1-1(consists of Xba I fragment of pUCrna1-1. URA3 gene, $2{\mu}m$ rep. origin), and pYEPRNAI. each plasmid was transformed into host strain(trpl, ura3-52, rna1-1) by electroporation, respectively. Yeast transformant carrying $pYEP{\Delta}RNA$ I did not complement the thermal sensitivity of rna1-1 gene. It means that TATA-like sequences in 5'-flanking region is not TATA sequence for transcribing RNAI gene and there may be other essential sequence in upstream region for the transcription of RNAI gene.

• Journal of Plant Biotechnology
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• v.38 no.4
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• pp.285-292
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• 2011

In plants, heteroblasty reflects the morphological adaptation during leaf development according to the external environmental condition and affects the final shape and size of organ. Among parameters displaying heteroblasty, leaf index is an important and typical one to represent the shape and size of simple leaves. Leaf index factor is eventually determined by cell proliferation and cell expansion in leaf blades. Although several regulators and their mechanisms controlling the cell division and cell expansion in leaf development have been studied, it does not fully provide a blueprint of organ formation and morphogenesis during environmental changes. To investigate genes and their mechanisms controlling leaf index during leaf development, we carried out molecular-genetic and physiological experiments using an Arabidopsis mutant. In this study, we identified macrophylla (mac) which had enlarged leaves. In detail, the mac mutant showed alteration in leaf index and cell expansion in direction of width and length, resulting in not only modification of leaf shape but also disruption of heteroblasty. Molecular-genetic studies indicated that mac mutant had point mutation in ROTUDIFOLIA3 (ROT3) gene involved in brassinosteroid biosynthesis and was an allele of rot3-1 mutant. We named it mac/rot3-5 mutant. The expression of ROT3 gene was controlled by negative feedback inhibition by the treatment of brassinosteroid hormone, suggesting that ROT3 gene was involved in brassinosteroid biosynthesis. In dark condition, in addition, the expression of ROT3 gene was up-regulated and mac/rot3-5 mutant showed lower response, compare to wild type in petiole elongation. This study suggests that ROT3 gene has an important role in control of leaf index during leaf expansion process for proper environmental adaptation, such as shade avoidance syndrome, via the control of brassinosteroid biosynthesis.

• Animal cells and systems
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• v.6 no.3
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• pp.263-269
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• 2002

The p53 tumor suppressor gene is among the most frequently mutated and studied genes in human cancer, but the mechanisms by which it sur presses tumor formation remain unclear. DNA damage regulates both the protein levels of p53 and its affinity for specific DNA sequences. Stabilization of p53 in response to DNA damage is caused by its dissociation from Mdm2, a downstream target gene of p53 and a protein that targets p53 for degradation in the proteosome. Recent studies have suggested that phosphorylation of human p53 at Ser20 is important for stabilizing p53 in response to DNA damage through disruption of the interaction between Mdm2 and p53. We generated mice with an allele encoding changes at Ser20, known to be essential for p53 accumulation following DNA damage, to enable analyses of p53 stabilization in vivo. Our data showed that the mutant p53 was clearly defective for full stabilization of p53 in response to DNA damage. We concluded that Ser20 phosphorylation is critical for modulating the negative regulation of p53 by Mdm2, probably through phosphorylation-dependent inhibition of p53-Mdm2 interaction in the physiological context.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.5
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• pp.1987-1992
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• 2015

The aim of this research was to investigate the possible association between gastric carcinoma (GC) and polymorphisms of the IL-$1{\beta}$ gene in the Kashmiri population using peripheral blood DNA from 150 gastric carcinoma cases and 250 population controls with detailed data for clinicopathological characteristics of the disease. Two SNPs in the IL-$1{\beta}$ gene were selected for this study. Expression of IL-$1{\beta}$ was studied in 50 gastric carcinoma cases using immunohistochemistry and RT-PCR and then correlated with genotype. The frequency of the IL-$1{\beta}$-511 C allele was significantly higher in the GC case group (53.3%) than in controls (45.4%) with an odds ratio (OR) of 0.73 and a P value of 0.03. Multivariate regression analysis showed associations of gastric carcinoma with mutant form of IL-$1{\beta}$-511 TT (OR 0.309; P value <0.001) and the CC genotype of IL-$1{\beta}$-31 (OR 0.313; P value of 0.002). Haplotype analysis of IL-$1{\beta}$-31 and IL-$1{\beta}$-511 showed decreased association of IL-$1{\beta}$-31 T with IL-$1{\beta}$-511 C with gastric carcinoma (OR 0.728; P value 0.03). Expression study of 50 samples by immunohistochemistry (IHC) and RT-PCR showed association with grade III and stage III+IV. After correlating the expression with polymorphism no association was found.

• International Journal of Oral Biology
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• v.31 no.1
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• pp.1-6
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• 2006

The primary cause of periodontitis is plaque-associated anaerobic gram-negative bacteria. As shown in the patients with defects in the number or function of neutrophils, innate immunity plays an important role in resistance to bacterial infection and periodontitis. Toll-like receptor 4(TLR4) is one of the key receptors that recognize the molecular patterns of microbes and initiate innate immune response. To understand the role of TLR4 in the pathogenesis of periodontitis, we investigated whether Asp299Gly of TLR4 mutation is associated with periodontitis in Korean population. Subjects for this study included 90 healthy subjects and 98 periodontitis patients. The Asp299Gly mutation was screened by PCR-Restriction Fragment Length Polymorphism(RFLP) of genomic DNA from blood cells using a primer that creates a NcoI restriction site only in the mutant allele. The Asp299Gly mutation was not found in all subjects tested. Our results suggest that the Asp299Gly mutation of TLR4 is very rare in a Korean population. Further mutation screening may be required to determine the role of TLR4 in the pathogenesis of periodontitis.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.11
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• pp.4583-4587
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• 2015

Background: The objectives of this study aimed to detect a CYP2B6 polymorphism in de novo cases of acute myeloid leukemia patients and identify any role in disease progression and outcome. Materials and Methods: DNA was isolated from peripheral blood of 82 newly diagnosed acute myeloid leukemia cases and the CYP2B6 G15631T gene polymorphism was assayed by PCR restriction fragment length polymorphism (PCR-RFLP). Results: The frequency of the GG genotype (wild type) was 48 (58.5%) and that of the mutant type T allele was 34 (41.9%). GT genotype heterozygous variants were found in 28 (34%), and TT genotype homozygous variants in 6 (7.3%) cases. We found no significant association between the CYP2B6 G15631T polymorphism and complete response (CR) (p-value=0.768), FAB classification (p-value=0.51), cytogenetic analysis (p-value=0.673), and overall survival (p-value=0.325). Also, there were no significant links with early toxic death (p-value=0.92) or progression-free survival (PFS) (p-value=0.245). Conclusions: Our results suggest that the CYP2B6 polymorphism has no role in disease progression, therapeutic outcome, patient free survival, early toxic death and overall survival in acute myeloid leukemia patients.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.96-107
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• 2006

Citrin deficiency resulting from mutations of SLC25A13is associated with two major clinical phenotypes; neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type 2 citrullinemia (CTLN2). In Korea, 7 cases of citrin deficiency have been diagnosed based on biochemical and molecular findings. Four NICCD cases were identified by newborn screening using MS/MS or presenting symptoms like cholestatic jaundice. They are all males, presenting with conjugated hyperbilirubinemia, elevated liver enzymes, hypoalbuminemia, mild hyperammonemia, elevated citrullin, methionine and threonine. All of them have been spontaneously recovered from hepatic manifestation by the age of 6-8 months. Mutation analysis has been performed using their genomic & cDNAs obtained from skin fibroblasts. They turned out to be compound heterozygotes carrying each of 851del4, IVS11+1G>A, and IVS13+1G>A. Three CTLN2 patients were identified. Two adult male patients presented with a sudden loss of consciousness, seizure, vomiting, hyperammonemia and citrullinemia in their twenties. They carried an IVS13+1G>A, 851del4, and IVS11+1G>A mutant alleles. The other CTLN2 patient was 52 year old female patient, manifesting lethargy, altered consciousness, irritability and hyperammonemia. Similar clinical symptoms had recurred at the delivery of first and second babies in her past medical history. She was managed by hemodialysis and survived with neurological sequellae. Also, we screened the presence of 9 common mutations in 500 Korean newborns using dried blood spot of filter papers. Only a allele carried 854del4 mutation. In conclusion, the entire picture of citrin deficiency in Korea including incidence, genotype, clinical features and natural courses, is still vague at the present time.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.60 no.4
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• pp.448-457
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• 2015

Developing rice lines with various amylose contents is necessary to diverse usages of rice in terms of raw materials for processed food production, and thereby to promote rice consumption in Korea. A rice mutant line, 'Namil(SA)-dull1' was established through sodium azide mutagenesis on 'Namil', a non-glutinous Korean Japonica rice cultivar. Namil(SA)-dull1' had dull endosperm characteristics and the evaluated amylose content was 12.2%. A total of 94 F2 progenies from a cross between 'Namil(SA)-dull1' and 'Milyang23', a non-glutinous Tongil-type rice cultivar, was used for genetic studies on the endosperm amylose content. Association analyses, between marker genotypes of 53 SSR anchor markers and evaluated amylose contents of each 94 F2:3 seeds, initially localized rice chromosome 6 as the harboring place for the modified allele(s) directing low amylose content of 'Namil(SA)-dull1'. By increasing SSR marker density on the putative chromosomal region followed by association analyses, the target region was narrowed down 0.94 Mbp segment, expanding from 28.95 Mbp to 29.89 Mbp, on rice chromosome 6 pseudomolecule. Among the SSR loci, RM7555 explained 84.2% of total variation of amylose contents in the $F_2$ population. Further physical mapping on the target region directing low amylose content of 'Namil(SA)-dull1' would increase the breeding efficiency in developing promising rice cultivars with various endosperm characteristics.