Humans ; Goldenhar Syndrome ; Phenotype ; Mutation ; DNA-Binding Proteins/genetics* ; Protein Tyrosine Phosphatases/genetics* ; Peptide Elongation Factors/genetics* ; Ribonucleoprotein, U5 Small Nuclear/genetics*

Hevea brasiliensis is the main source of natural rubber. Restricted by its tropical climate conditions, the planting area in China is limited, resulted in a low self-sufficiency. Periploca sepium which can produce natural rubber is a potential substitute plant. cis-prenyltransferase (CPT), small rubber particle protein (SRPP) and rubber elongation factor (REF) are key enzymes involved in the biosynthesis of cis-1, 4-polyisoprene, the main component of natural rubber. In this study, we cloned the promoter sequences of CPT, SRPP and REF through chromosome walking strategy. The spatial expression patterns of the three promoters were analyzed using GUS (β-glucuronidase) as a reporter gene driven by the promoters through Agrobacterium-mediated genetic transformation. The results showed that GUS driven by CPT, SRPP or REF promoter was expressed in leaves and stems, especially in the leaf vein and vascular bundle. The GUS activity in stems was higher than that in leaf. This study provided a basis for analyzing the biosynthesis mechanism of natural rubber and breeding new varieties of high yield natural rubber.
Peptide Elongation Factors/genetics* ; Plant Proteins/metabolism* ; Periploca/metabolism* ; Rubber ; Plant Breeding ; Cloning, Molecular

OBJECTIVE: To delineate the clinical and genetic features of a fetus with micrognathia, low-set ears, microtia, polyhydramnios and anechoic stomach by ultrasonography. METHODS: Whole exome sequencing (WES) was carried out to detect genetic variant in the fetus, for which routine chromosomal karyotyping and chromosomal microarray analysis (CMA) yielded no positive finding. Candidate variants were verified by Sanger sequencing and bioinformatic analysis. RESULTS: WES revealed that the fetus has carried a de novo nonsense c.2302C>T (p.Q768X) variant in exon 23 of the EFTUD2 gene, which was detected in neither parent. The variant was unreported previously and may lead to premature termination of the translation of EFTUD2 protein at the 768th amino acid. Bioinformatic analysis predicted the amino acid to be highly conserved and may alter the structure and function of the EFTUD2 protein. CONCLUSION The c.2302C>T variant of the EFTUD2 gene probably underlay the mandibulofacial dysostosis Guion-Almeida type in the fetus. Discovery of the novel variant has enriched variant spectrum of the EFTUD2 gene and provided a basis for genetic counseling and prenatal diagnosis for the family.
Female ; Fetus ; Humans ; Mandibulofacial Dysostosis/genetics* ; Mutation ; Peptide Elongation Factors/genetics* ; Phenotype ; Pregnancy ; Ribonucleoprotein, U5 Small Nuclear/genetics*

Agarum clathratum, a brown macroalgae species, has recently become a serious environmental problem on the coasts of Korea. In an effort to solve this problem, fungal diversity associated with decaying A. clathratum was investigated and related β-glucosidase and endoglucanase activities were described. A total of 233 fungal strains were isolated from A. clathratum at 15 sites and identified 89 species based on morphology and a multigene analysis using the internal transcribed spacer region (ITS) and protein-coding genes including actin (act), β-tubulin (benA), calmodulin (CaM), and translation elongation factor (tef1). Acremonium, Corollospora, and Penicillium were the dominant genera, and Acremonium fuci and Corollospora gracilis were the dominant species. Fifty-one species exhibited cellulase activity, with A. fuci, Alfaria terrestris, Hypoxylon perforatum, P. madriti, and Pleosporales sp. Five showing the highest enzyme activities. Further enzyme quantification confirmed that these species had higher cellulase activity than P. crysogenum, a fungal species described in previous studies. This study lays the groundwork for bioremediation using fungi to remove decaying seaweed from populated areas and provides important background for potential industrial applications of environmentally friendly processes.
Acremonium ; Actins ; Biodegradation, Environmental ; Calmodulin ; Cellulase ; Fungi ; Korea ; Penicillium ; Peptide Elongation Factors ; Seaweed

The genus Trichoderma (Hypocreaceae, Ascomycota) consists of globally distributed fungi. Among them, T. harzianum, one of the most commonly collected Trichoderma species, had been known as a polyphyletic or aggregate species. However, a total of 19 species were determined from the polyphyletic groups of T. harzianum. Thus, we explored Korean “T. harzianum” specimens that were collected in 2013–2014. These specimens were re-examined based on a recent study with translate elongation factor 1-alpha (EF1α) sequences to reveal cryptic Trichoderma species in Korea. As a result, four different species, T. afroharzianum, T. atrobruneum, T. pyramidale, and T. harzianum, were identified. Except T. harzianum, the other three species have not been reported in Korea. In this work, we describe these species and provide figures.
Classification ; Fungi ; Korea* ; Peptide Elongation Factors ; Phylogeny ; Trichoderma*

To identify the Helicobacter pylori antigens operating during early infection in sera from infected infants using proteomics and immunoblot analysis. Two-dimensional (2D) large and small gel electrophoresis was performed using H. pylori strain 51. We performed 2D immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin M (IgM) antibody immunoblotting using small gels on sera collected at the Gyeongsang National University Hospital from 4–11-month-old infants confirmed with H. pylori infection by pre-embedding immunoelectron microscopy. Immunoblot spots appearing to represent early infection markers in infant sera were compared to those of the large 2D gel for H. pylori strain 51. Corresponding spots were analyzed by matrix-assisted laser desorption/ionization time of flight-mass spectrometry (MALDI-TOF-MS). The peptide fingerprints obtained were searched in the National Center for Biotechnology Information (NCBI) database. Eight infant patients were confirmed with H. pylori infection based on urease tests, histopathologic examinations, and pre-embedding immunoelectron microscopy. One infant showed a 2D IgM immunoblot pattern that seemed to represent early infection. Immunoblot spots were compared with those from whole-cell extracts of H. pylori strain 51 and 18 spots were excised, digested in gel, and analyzed by MALDI-TOF-MS. Of the 10 peptide fingerprints obtained, the H. pylori proteins flagellin A (FlaA), urease β subunit (UreB), pyruvate ferredoxin oxidoreductase (POR), and translation elongation factor Ts (EF-Ts) were identified and appeared to be active during the early infection periods. These results might aid identification of serological markers for the serodiagnosis of early H. pylori infection in infants.
Biotechnology ; Electrophoresis ; Flagellin ; Gels ; Helicobacter pylori* ; Helicobacter* ; Humans ; Immunoblotting ; Immunoglobulin A ; Immunoglobulin G ; Immunoglobulin M ; Infant* ; Microscopy, Immunoelectron ; Peptide Elongation Factors ; Peptide Mapping ; Proteomics ; Pyruvate Synthase ; Serologic Tests ; Spectrum Analysis ; Urease

Leaf spot disease on black chokeberry (Aronia melanocarpa) was observed at several locations in Korea during 2014–2015. Leaf spots were distinct, scattered over the leaf surface and along the leaf border, subcircular to irregular and brown surrounded by a distinct dark color, and were expanded and coalesced into irregularly shaped lesions. Severely infected leaves became dry and fell off eventually. The causative agent was identified as Pseudocercospora pyricola. Morphological observations and phylogenetic analyses of multiple genes, including internal transcribed spacer, translation elongation factor 1-alpha, actin, and the large subunit ribosomal DNA were conducted. The pathogenicity test was conducted twice yielding similar results, fulfilling Koch's postulates. To our knowledge, this is the first report on P. pyricola infection of A. melanocarpa globally.
Actins ; DNA, Ribosomal ; Korea ; Peptide Elongation Factors ; Photinia* ; Virulence

BACKGROUND: The prevalence of novel type 1 diabetes mellitus (T1DM) antibodies targeting eukaryote translation elongation factor 1 alpha 1 autoantibody (EEF1A1-AAb) and ubiquitin-conjugating enzyme 2L3 autoantibody (UBE2L3-AAb) has been shown to be negatively correlated with age in T1DM subjects. Therefore, we aimed to investigate whether age affects the levels of these two antibodies in nondiabetic subjects. METHODS: EEF1A1-AAb and UBE2L3-AAb levels in nondiabetic control subjects (n=150) and T1DM subjects (n=101) in various ranges of age (18 to 69 years) were measured using an enzyme-linked immunosorbent assay. The cutoff point for the presence of each autoantibody was determined based on control subjects using the formula: [mean absorbance+3×standard deviation]. RESULTS: In nondiabetic subjects, there were no significant correlations between age and EEF1A1-AAb and UBE2L3-AAb levels. However, there was wide variation in EEF1A1-AAb and UBE2L3-AAb levels among control subjects <40 years old; the prevalence of both EEF1A1-AAb and UBE2L3-AAb in these subjects was 4.4%. When using cutoff points determined from the control subjects <40 years old, the prevalence of both autoantibodies in T1DM subjects was decreased (EEFA1-AAb, 15.8% to 8.9%; UBE2L3-AAb, 10.9% to 7.9%) when compared to the prevalence using the cutoff derived from the totals for control subjects. CONCLUSION: There was no association between age and EEF1A1-AAb or UBE2L3-AAb levels in nondiabetic subjects. However, the wide variation in EEF1A1-AAb and UBE2L3-AAb levels apparent among the control subjects <40 years old should be taken into consideration when determining the cutoff reference range for the diagnosis of T1DM.
Antibodies ; Autoantibodies* ; Diabetes Mellitus, Type 1 ; Diagnosis ; Enzyme-Linked Immunosorbent Assay ; Eukaryota* ; Humans ; Peptide Elongation Factor 1* ; Peptide Elongation Factors* ; Prevalence ; Reference Values ; Young Adult*

Dieback in strawberry (Seolhyang cultivar) was first observed during the nursery season (June to September) in the Nonsan area of Korea in the years 2012 and 2013. Initial disease symptoms included dieback on runners, as well as black rot on roots, followed by wilting and eventually blackened, necrotic discoloration in the crowns of daughter plants. A fungus isolated from the diseased roots, runners, and crowns is close to Lasiodiplodia theobromae based on morphological characteristics. Analysis of a combined dataset assembled from sequences of the internal transcribed spacer and translation elongation factor 1-alpha genes grouped nine fungal isolates with the type strain of L. theobromae. The isolates showed strong pathogenicity on strawberry cultivars Kumhyang, Seolhyang, and Akihimae, fulfilling Koch's postulates. Based on these results, the pathogen responsible for dieback on strawberry plants in Korea was identified as L. theobromae.
Chungcheongnam-do ; Crowns ; Dataset ; Fragaria* ; Fungi ; Korea* ; Nuclear Family ; Nurseries ; Peptide Elongation Factors ; Seasons ; Virulence

Blossom blight in strawberry was first observed in a green house in Nonsan, Damyang, and Geochang areas of Korea, between early January to April of 2012. Disease symptoms started as a grey fungus formed on the stigma, which led to the blossom blight and eventually to black rot and necrosis of the entire flower. We isolated the fungi purely from the infected pistils and maintained them on potato dextrose agar (PDA) slants. To test Koch's postulates, we inoculated the fungi and found that all of the isolates caused disease symptoms in the flower of strawberry cultivars (Seolhyang, Maehyang, and Kumhyang). The isolates on PDA had a velvet-like appearance, and their color ranged between olivaceous-brown and smoky-grey to olive and almost black. The intercalary conidia of the isolates were elliptical to limoniform, with sizes ranging from 5.0~10.5 x 2.5~3.0 microm to 4.0~7.5 x 2.0~3.0 microm, respectively. The secondary ramoconidia of these isolates were 0- or 1-septate, with sizes ranging betweem 10.0~15.0 x 2.5~3.7 microm and 8.7~11.2 x 2.5~3.2 microm, respectively. A combined sequence analysis of the internal transcribed spacer regions, partial actin (ACT), and translation elongation factor 1-alpha (TEF) genes revealed that the strawberry isolates belonged to two groups of authentic strains, Cladosporium cladosporioides and C. tenuissimum. Based on these results, we identified the pathogens causing blossom blight in strawberries in Korea as being C. cladosporioides and C. tenuissimum.
Actins ; Agar ; Chungcheongnam-do ; Cladosporium* ; Flowers* ; Fragaria* ; Fungi ; Glucose ; Korea* ; Necrosis ; Olea ; Peptide Elongation Factors ; Sequence Analysis ; Solanum tuberosum ; Spores, Fungal