• Title/Summary/Keyword: Phenotype variation

검색결과 73건 처리시간 0.024초

MAP kinase kinase kinase as a positive defense regulator in rice-blast fungus interactions

  • Kim, Jung-A;Jung, Young-Ho;Lee, Joo-Hee;Jwa, Nam-Soo
    • 한국식물병리학회:학술대회논문집
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    • 한국식물병리학회 2004년도 The 2004 KSPP Annual Meeting & International Symposium
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    • pp.48-52
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    • 2004
  • We have found the role of rice mitogen-activated protein kinase kinase kinase (MAPKKK), OsEDR1, as controling hypersensitive response (HR) and increased disease resistance to rice blast fungus Magnaporthe grisea. Generation of transgenic rice plants through introduction of the over-expression construct of OsEDR1 using Agrobacterium-mediated transformation results in lesion mimic phenotype. Up-regulation of defense mechanism was detected through detection of increased transcription level of rice PBZ1 and PR1a. Inoculation of rice blast fungus on the lesion mimic transgenic lines displayed significantly increased resistance. The disease symptoms were arrested like HR responses which are commonly detected in the incompatible interactions. High accumulation of phenolic compounds around developing lesions was detected under UV light. There was variation among transgenic lines on the timing of lesion progression as well as the lesion numbers on the rice leaves. Transgenic lines with few lesions also show increased resistance as well as equal amount of grain yields compared to that of wild type rice cultivar Nipponbare. This is the first report of the MAPKKK as a positive regulator molecule on defense mechanism through inducing HR-like cell death lesion mimic phenotype. The application of OsEDR1 is highly expected for the development of resistant cultivars against rice pathogens.

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X 연관 부신백질이영양증의 분류, 진단 및 치료의 최신 지견 (X-linked adrenoleukodystrophy; Recent Advances in Classification, Diagnosis and Management)

  • 정을식;고아라;강훈철
    • 대한소아신경학회지
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    • 제24권3호
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    • pp.71-83
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    • 2016
  • X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ATP binding cassette subfamily D member 1 (ABCD1), a gene that encodes peroxisomal membrane located on ABC half-transporter named adrenoleukodystrophy protein (ALDP). X-ALD is characterized by a highly variable clinical spectrum, including progressive cerebral type, adrenomyeloneuropathy, and addison-only phenotype. No genotype/phenotype correlation has been established. Thus, unidentified modifier genes and other co-factors are speculated to modulate the phenotypic variation and disease severity. Recent advanced sequencing methods and reprogramming technologies not only offer an affordable and applicable approach to investigate the pathophysiological mechanisms of adrenoleukodystrophy, but also provide means to develop therapy. A causal therapy of X-ALD is lacking. Lorenzo's oil therapy is recommended for asymptomatic boys, but the longest study found that the oil was not beneficial at all to symptomatic X-ALD patients. Hematopoietic stem cell therapy has a relevant chance of success when performed during this early stage of cerebral type X-ALD. Recently, it has been insisted that lentiviral-mediated gene therapy of hematopoietic stem cells can provide clinical benefits in X-ALD. This review describes current knowledge on the clinical presentation, pathogenesis, diagnosis and management of X- ALD.

Morphological and genetic variability among Ecklonia cava (Laminariales, Phaeophyceae) populations in Korea

  • Choi, Dong Mun;Ko, Young Wook;Kang, Rae-Seon;Kim, Jeong Ha
    • ALGAE
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    • 제30권2호
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    • pp.89-101
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    • 2015
  • Ecklonia cava Kjellman is a common kelp found in shallow subtidal in warm-temperate waters in the northwest Pacific Ocean. This species has shown substantial morphological variation along with subsistence in different locations and local environments. We quantified the magnitude of morphological variation of E. cava from six populations along ~700 km of coastline from Jeju Island to Dokdo in Korea. In addition, we examined genetic distance among the populations using random amplified polymorphic DNA (RAPD) analysis. Most morphological characteristics investigated were significantly different among locations. Multivariate analyses indicated two phenetically distinct groups (nearshore, sheltered vs. offshore, exposed), indicating wave exposure with turbidity are presumably major factors for the separation. With RAPD data, results of Nei's diversity (H) and AMOVA showed considerable variations in within- and between-populations. Pairwise ${\Phi}_{ST}$ and $N_m$ values indicated moderate gene flow between the six locations. Results of Nei's analysis revealed three genetically distinct groups, not consistent with the morphological groupings, indicating that a time gap may exist between morphological and genetic variations. This study also suggests dispersal distance of this kelp may be longer than what is commonly thought and genetic similarity in the populations was largely reflected by the direction of ocean current rather than just geographical distance.

Comparative proteomic analysis of Celastrus hindsii Benth. phenotypes reveals an intraspecific variation

  • Nguyen, Van Huy;Pham, Thanh Loan;Ha, Thi Tam Tien;Hoang, Thi Le Thu
    • Journal of Plant Biotechnology
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    • 제47권4호
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    • pp.273-282
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    • 2020
  • In Vietnam, Celastrus hindsii Benth, a medicinal plant rich in secondary metabolites, has been used to alleviate distress caused by ulcers, tumors, and inflammation for generations. The occurrence of two phenotypes, Broad Leaf (BL) and Narrow Leaf (NL), has raised questions about the selection of appropriate varieties for conservation and crop improvement to enhance medicinal properties. This study examined molecular differences in C. hindsii by comparing protein profiles between the NL and BL types using 2D-PAGE and MS. Peptide sequences and proteins were identified by matching MS data against the MSPnr100 databases and verified using the MultiIdent tool on ExPASy and the Blast2GO software. Our results revealed notable variations in protein abundance between the NL and BL proteomes. Selected proteins were confidently identified from 12 protein spots, thereby highlighting the molecular variation between NL and BL proteomes. Upregulated proteins in BL were found to be associated with flavonoid and amino acid biosynthesis as well as nuclease metabolism, which probably attributed to the intraspecific variations. Several bioactive proteins identified in this study can have applications in cancer therapeutics. Therefore, the BL phenotype characterized by healthier external morphological features has higher levels of bioactive compounds and could be better suited for medicinal use.

Molecular Characterization of Regulatory Genes Associated with Biofilm Variation in a Staphylococcus aureus Strain

  • Kim, Jong-Hyun;Kim, Cheorl-Ho;Hacker, Jorg;Ziebuhr, Wilma;Lee, Bok-Kwon;Cho, Seung-Hak
    • Journal of Microbiology and Biotechnology
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    • 제18권1호
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    • pp.28-34
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    • 2008
  • Biofilm formation in association with the intercellular adhesion (icaADBC) gene cluster is a serious problem in nosocomial infections of Staphylococcus aureus. In all 112 S. aureus strains tested, the ica genes were present, and none of these strains formed biofilms. The biofilm formation is known to be changeable by environmental factors. We have found about 30% of phase variation in these strains with treatment of tetracycline, pristinamycin, and natrium chloride. However, this phenotype disappeared without these substances. Therefore, we have constructed stable biofilm-producing variants through a passage culture method. To explain the mechanism of this variation, nucleotide changes of ica genes were tested in strain S. aureus 483 and the biofilm-producing variants. No differences of DNA sequence in ica genes were found between the strains. Additionally, molecular analysis of three regulatory genes, the accessory gene regulator (agr) and the staphylococcal accessory regulator (sarA), and in addition, alternative transcription factor ${\sigma}^B$ (sigB), was performed. The data of Northern blot and complementation showed that SigB plays an important role for this biofilm variation in S. aureus 483 and the biofilm-producing variants. Sequence analysis of the sigB operon indicated three point mutations in the rsbU gene, especially in the stop codon, and two point mutations in the rsbW gene. This study shows that this variation of biofilm formation in S. aureus is deduced by the role of sigB, not agr and sarA.

Fleece Phenotype Influences Susceptibility to Cortisol-induced Follicle Shutdown in Merino Sheep

  • Ansari-Renani, H.R.;Hynd, P.I.;Aghajanzadeh, A.
    • Asian-Australasian Journal of Animal Sciences
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    • 제20권11호
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    • pp.1761-1769
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    • 2007
  • This experiment was conducted to determine the extent to which susceptibility to cortisol-induced follicle shutdown is influenced by fleece phentotype. Twenty Finewool (10 sheep low fibre diameter, low coefficient of fibre diameter-LL and 10 low fibre diameter, high coefficient of variation of fibre diameter-LH) and twenty Strongwool (10 low fibre diameter, low coefficient of variation of fibre diameter-HL and 10 high fibre diameter and high coefficient of variation of fibre diameter-HH) sheep of 9 months of age were individually penned in an animal house and were injected intramuscularly with an aqueous suspension of hydrocortisone acetate at a rate of 1.42 mg/kg body weight for a period of two weeks. Fibre diameter was measured from clipped tattooed patch wool samples. Follicle activity was measured by histological changes in skin biopsies taken weekly. Blood samples were collected at two-week intervals and plasma cortisol measured. Increased plasma cortisol concentration significantly (p<0.05) reduced clean wool production and mean fibre diameter dropped to its lowest level four weeks after commencement and two weeks after the cessation of cortisol injection. Elevation of plasma cortisol concentration significantly (p<0.0001) increased the percentage of inactive follicles two weeks after injection started. High fibre diameter groups (Strongwool sheep; i.e. HL+HH) had significantly (p<0.0001) higher percentage of follicle shutdown than low fibre diameter groups (Finewool sheep; i.e. LL+LH). Average percentage of shutdown follicles for Finewool (LL+LH) and Strongwool (HL+HH) Merino sheep was $9.8{\pm}0.9$ and $13.5{\pm}0.9$ respectively. Shutdown of primary follicles was more pronounced in Finewool than Strongwool sheep. There was no significant effect of coefficient of variation of fibre diameter on propensity to follicle shutdown induced by exogenous cortisol. It is concluded that elevation in plasma cortisol concentration is inhibitory to the normal activity of follicles in Strongwool sheep but that variation in fibre diameter has little or no effect.

Analysis of Genetic Variation in Botrytis cinerea Isolates Using Random Amplified Polymorphic DNA Markers

  • Choi, In-Sil;Kim, Dae-Hyuk;Lee, Chang-Won;Kim, Jae-Won;Chung, Young-Ryun
    • Journal of Microbiology and Biotechnology
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    • 제8권5호
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    • pp.490-496
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    • 1998
  • Random amplified polymorphic DNA (RAPD) markers were used to survey genetic variability among 34 Botrytis cinerea isolates from nine different host plants in Korea. For RAPD analysis, 115 arbitrary decamer primers were initially screened for polymorphic major DNA bands with 11 representative B. cinerea isolates. Eleven primers that initially detected polymorphisms were tested a second time with additional 23 isolates of B. cinerea as well as one isolate of Botrytis squamosa as an outgroup. The RAPD analyses revealed that all isolates except one showed different molecular phenotypes. Dendrograms obtained from dissimilarity matrices using the unweighted paired group method of arithmetic means (UPGMA) showed the 36.4% to 90.0% similarity among all B. cinerea isolates. The B. squamosa isolate showed the least similarity to all B. cinerea isolates. The cluster analyses indicated no correlation among all the characteristics examined including molecular phenotypes, host and geographic origins, year of isolation, or pathogenicity. The RAPD data suggest that a high level of genetic variation exists among Korean populations of B. cinerea and it seems to be caused by heterokaryosis among preexisting molecular phenotypes.

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Identification of functional SNPs in genes and their effects on plant phenotypes

  • Huq, Md. Amdadul;Akter, Shahina;Nou, Ill Sup;Kim, Hoy Taek;Jung, Yu Jin;Kang, Kwon Kyoo
    • Journal of Plant Biotechnology
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    • 제43권1호
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    • pp.1-11
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    • 2016
  • Single nucleotide polymorphism (SNP) is an abundant form of genetic variation within individuals of species. DNA polymorphism can arise throughout the whole genome at different frequencies in different species. SNP may cause phenotypic diversity among individuals, such as individuals with different color of plants or fruits, fruit size, ripening, flowering time adaptation, quality of crops, grain yields, or tolerance to various abiotic and biotic factors. SNP may result in changes in amino acids in the exon of a gene (asynonymous). SNP can also be silent (present in coding region but synonymous). It may simply occur in the noncoding regions without having any effect. SNP may influence the promoter activity for gene expression and finally produce functional protein through transcription. Therefore, the identification of functional SNP in genes and analysis of their effects on phenotype may lead to better understanding of their impact on gene function for varietal improvement. In this mini-review, we focused on evidences revealing the role of functional SNPs in genes and their phenotypic effects for the purpose of crop improvements.

Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12

  • Kanwal, Sumaira;Choi, Byung-Ok;Kim, Sang-Beom;Koo, Hea-Soo;Kim, Jee-Young;Hyun, Young-Se;Lee, Hye-Jin;Chung, Ki-Wha
    • Animal cells and systems
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    • 제15권4호
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    • pp.301-309
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    • 2011
  • Charcot-Marie-Tooth disease (CMT) is clinically heterogeneous hereditary motor and sensory neuropathies with genetic heterogeneity, age-dependent penetrance, and variable expressivity. Rare copy number variations by nonrecurrent rearrangements have recently been suggested to be associated with Charcot-Marie-Tooth 1A (CMT1A) neuropathy. In our previous study, we found three Korean CMT1A families with rare copy number variations (CNVs) on 17p12 by nonrecurrent rearrangement. Careful clinical examinations were performed in all the affected individuals with rare CNVs (n=19), which may be the first full study of a subject from a large CMT1A family with nonrecurrent rearrangement. The clinical phenotype showed no significant difference compared with common CMT1A patients, but with variable phenotypes. In particular, a broad intrafamilial phenotypic spectrum was observed within the same family, which may suggest the existence of a genetic modifier. This study may broaden the understanding of the role of CNVs in the pathogenesis of CMT.

Sex and Population Differences in Intelligence Are Partly Caused by Sexual Selection: Hn Evolutionary Hypothesis

  • Piffer, Davide
    • Interdisciplinary Bio Central
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    • 제6권4호
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    • pp.2.1-2.7
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    • 2014
  • Sexual dimorphism in intelligence suggests that this phenotype is a sexually selected trait. This view is supported by an overrepresentation (compared to the autosomal genome) of genes affecting cognition on the X chromosome. The aim of this study is to test the hypothesis that sexual selection can explain sex and country-level differences in performance on tests of fluid intelligence. Nationally representative samples from N = 44 countries were obtained from the Programme for International Student Assessment (PISA) Creative Problem Solving (CPS), which evaluates the core of intelligence, that is novel problem solving ability. Sexual selection has the double effect of increasing the prevalence of a favored phenotype and reducing genetic variation in sexually selected traits. Matching these predictions from evolutionary theory, the average country fluid intelligence is positively correlated to sexual dimorphism after partialling out per capita GDP and the latter in turn is inversely correlated to variance in intelligence scores within populations. Males have a higher variance than females but there is a negative correlation between male-female difference in variance and sexual dimorphism in intelligence, suggesting that selection reduces variance more in the selected sex. Average country male height is negatively correlated to sexual dimorphism in intelligence, a fact that supports the notion of a trade-off between physical and intellectual competition in the context of access to females. The results of this study, if replicated, imply that genome-wide association studies of cognition may benefit from a focus on sex chromosomes, which so far have been neglected. Another implication of this study is that intelligence has continued to evolve after different human populations migrated out of Africa and possibly up to the 19th century, as suggested by the substantial variability in sex differences even between neighbouring countries.