Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung's disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilson syndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has been previously reported. Here, we describe a patient with Mowat-Wilson syndrome who presented with developmental delays, typical facial dysmorphism, and Hirschsprung's disease. Molecular analysis of ZEB2 identified a novel heterozygous mutation at c.190dup (p.S64Kfs*6). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome that has been confirmed genetically.
Hirschsprung Disease* ; Humans ; Intellectual Disability ; Korea ; Zinc Fingers

Trichoderma reesei Rut-C30 is widely used in industrial cellulase production, and development of cellulase hyper-producer is of great importance for economic lignocellulosic biorefinery. In this study, T. reesei Rut-C30 was engineered with an artificial zinc finger proteins (AZFPs) library. Two mutants T. reesei M1 and M2 with improved cellulase production were obtained. Compared to the parent strain, the filter paper activity (FPase) of T. reesei M1 and M2 increased 100% and 53%, respectively. In addition, the total amount of extracellular protein from the M1 mutant increased 69%, whereas the endo-β-glucanase (CMCase) activity of the M2 mutant is 64% higher compared to the parental strain. Furthermore, RT-qPCR analysis showed that the major cellulase genes exhibited significantly increased expression in both mutants, but different patterns were observed in the two mutants. On the other hand, the cellulase transcriptional repressor ace1 was down-regulated in both mutants, but the transcription level of the activator xyr1 was only up-regulated in the strain M1. These results demonstrated that different AZFPs exert diverse regulatory mechanisms on cellulase production in T. reesei. Analysis of the target genes of AZFPs from T. reesei M1 and M2 will not only benefit further exploration of the regulatory mechanisms of cellulase biosynthesis in T. reesei, but also enable development of cellulase hyper-producing strains by metabolic engineering.
Cellulase ; Gene Library ; Transcription Factors ; Trichoderma ; Zinc Fingers

GATA transcription factors are widespread eukaryotic regulators whose DNA-binding domain is a class IV zinc finger motif in the form CX(2)CX(17-20)CX(2)C followed by a basic region. In fungi, they act as transcriptional activators or repressors in several different processes, ranging from nitrogen source utilization to mating-type switching. Using an in-house bioinformatics portal system, we surveyed 50 fungal and 9 out-group genomes and identified 396 putative fungal GATA transcription factors. The proportion of GATA transcription factors within a genome varied among taxonomic lineages. Subsequent analyses of phylogenetic relationships among the fungal GATA transcription factors, as well as a study of their domain architecture and gene structure, demonstrated high degrees of conservation in type IVa and type IVb zinc finger motifs and the existence of distinctive clusters at least at the level of subphylum. The SFH1 subgroup with a 20-residue loop was newly identified, in addition to six well-defined subgroups in the subphylum Pezizomycotina. Furthermore, a novel GATA motif with a 21-residue loop (CX(2)CX(21)CX(2)C, designated 'zinc finger type IVc') was discovered within the phylum Basidiomycota. Our results suggest that fungal GATA factors might have undergone multiple distinct modes of evolution resulting in diversified cellular modulation in fungi.
Basidiomycota ; Computational Biology ; Fingers ; Fungi* ; GATA Transcription Factors* ; Genome ; Nitrogen ; Portal System ; Zinc Fingers

Acrodermatitis enteropathica is a rare autosomal recessive disorder characterized by alopecia, acral and periorificial dermatitis and diarrhea. True acrodermatits enteropathica requires lifelong zinc replacement whereas transient acrodermatitis enteropathica, an acquired disorder with identical clinical features, requires only transient zinc replacement. Although premature and milk-fed infants are particularly vulnerable to development of both conditions, there have been some reports of acrodermatitis enteropathica in full-term breast-fed infants. We report a case of transient acrodermatitis enteropathica in a 5-month-old, full-term, breast-fed male baby with identical history in his 2 elder siblings. The patient presented with a 5-month history of diarrhea, hair loss and crusted erythematous patches on periorificial areas, and fingers and toes. His serum zinc levels were within lower normal limits in 2 consecutive tests. His mother was also checked for zinc levels, which was normal in serum but was markedly reduced in breast milk. Diarrhea and skin lesions disappeared promptly with oral zinc supplementation and did not recur after 11 weeks of treatment.
Acrodermatitis* ; Alopecia ; Dermatitis ; Diarrhea ; Fingers ; Hair ; Humans ; Infant ; Male ; Milk, Human ; Mothers ; Siblings* ; Skin ; Toes ; Zinc

The relationship between lead related subject symptoms and lead exposure indices was studied in 435 male lead workers in thirteen lead using industries. 212 male office workers who were not exposed to lead occupationally were also studied as a control group. Fourteen lead related symptoms were selected. They were further subdivided into 4 sub-symptom groups such as 1) gastrointestinal, 2) neuromuscular and joint 3) constitutional, and 4) psychological symptoms. Symptom questionnaires were provided to the workers and filled up by themselves and reconfirmed by interviewer(doctor). The test used for the evaluation of lead exposure were blood lead (PbB), zinc protoporphyrin in whole blood(ZPP), hemoglobin(Hb), hematocrit(Hct), delta-aminolevulinic acid in urine(DALA). The results obtained were as follows; 1. The higher prevalence rate in the sub-group of neuromuscular and joint symptoms was observed in occupationally lead exposed subjects than non-exposed subjects. Among the sub-groups, the most frequent symptom was "numbness of finger, hands of feet", and the prevalence of the symptom of "arthralgia", "weakness of fingers, hands or feet" and "myalgia" were higher in order. 2. While the symptom which showed the biggest difference of prevalence rate among the 14 symptoms between exposed and non-exposed subjects was "numbness of fingers, hands or feet" , the symptom which showed the highest prevalence rate was "feeling tired generally" in exposed and non-exposed subjects, but no statistical difference of symptom prevalence were observed. 3. In total study population, PbB and ZPP had dose-response relationship with 4 symptoms of neuromuscular and joint symptoms ("numbness of finger, hands or feet", "arthralgia", "weakness of fingers, hands or feet" and "myalgia") and one symptom of gastrointestinal group("intermittent pains in lower abdomen"). 4. In lead exposed workers, only neuromuscular and joint symptoms group showed dose-response relationship with PbB and ZPP. 5. In lead exposed workers, the prevalence rate of overall symptoms of lead workers with age below 39 years was higher than that of lead workers with age above 40. While neuromuscular and joint symptoms group had a dose-response relationship with PbB in former group, it had a dose-response relationship with ZPP in latter group. 6. Age adjusted odds ratios of symptoms of non-exposed with exposed and odds ratios of low exposed with high exposed workers showed the dose-response relationship of lead exposure with neuromuscular and joint symptoms group("numbness of fingers, hands or feet", "arthralgia", "weakness of fingers, hands or feet" and "myalgia") and gastrointestinal symptoms group("intermittent pains in lower abdoman").
Aminolevulinic Acid ; Fingers ; Hand ; Humans ; Joints ; Male ; Occupations ; Odds Ratio ; Prevalence* ; Surveys and Questionnaires ; Zinc

The pleomorphic adenoma is the most common neoplasm involving both the major and minor salivary glands. It is a benign, slowgrowing tumor, but local recurrences can occur. The pleomorphic adenoma gene 1 (PLAG1), which is a novel zinc finger gene, is frequently activated by reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. This experimental study was preformed to observe the translocation patterns between PLAG1 gene and the three translocation partner genes. We also have analyzed the presence of PLAG1 transcripts by RT-PCR. CTNNB1/PLAG1 gene fusion was observed in three of nine pleomorphic adnomas. However, LIFR/PLAG1 and SII/PLAG1 gene fusions were not detectable. All of three gene fusions was not detectable in one Warthin's tumor and three inflammatory salivary gland tissues. PLAG1 transcripts were expressed in all inflammatory salivary gland tissues and tumors except for three pleomorphic adenomas. Of particular one pleomorphic adenoma showing CTNNB1/P AG1 gene fusion did not express PLAG1 transcipt. Our data indicate that gene fusion involving PLAG1 is a frequent event in pleomorphic adenoma, but correlation between gene fusion involving PLAG1 and PLAG1 transcription is not definite.
Adenoma, Pleomorphic* ; Gene Fusion ; Recurrence ; Salivary Glands* ; Salivary Glands, Minor ; Translocation, Genetic ; Zinc Fingers

PURPOSE: The purpose of this study was to evaluate the adaptation of lithium disilicate crowns fabricated by CAD-CAM (computer aided design-computer aided manufacturing) and heat-press technique to compare two different measurement methods in assessing fit of the ceramic crowns: micro CT and cross-section technique. MATERIALS AND METHODS: A prepared typodont mandibular molar for ceramic crown was duplicated and ten dies were produced by milling the PMMA (polymethylmethacrylate) resin. Ten vinyl polysiloxane impressions were made and stone casts were produced. Five dies were used for IPS e.max Press crowns with heat-press technique. The other five dies were used for IPS e.max CAD crowns with CAD-CAM technique. Ten lithium disilicate crowns were cemented on the resin dies using zinc phosphate cement with finger pressure. The marginal and internal fits in central buccolingual plane were evaluated using a micro CT. Then the specimens were embedded and cross-sectioned and the marginal and internal fits were measured using scanning electronic microscope. The two measurement methods and two manufacturing methods were compared using Mann-Whitney U test (SPSS 22.0). RESULTS: The marginal and internal fit values using micro CT and cross-section technique were similar, showing no significant differences. There were no significant differences in adaptation between lithium disilicate crowns fabricated with CAD-CAM and heat-press technique. CONCLUSION: Both micro CT and cross-section technique were acceptable methods in the evaluation of marginal and internal fit of lithium disilicate crown. There was no difference in adaptation between lithium disilicate crowns fabricated with CAD-CAM and heat-press technique except occlusal fit.
Ceramics ; Computer-Aided Design ; Crowns* ; Fingers ; Lithium* ; Molar ; Polymethyl Methacrylate ; Siloxanes ; Zinc Phosphate Cement

PURPOSE: KLF6, a member of the KLF family, is a ubiquitous zinc finger tumor suppressor protein that is mutated in several human cancers. Our aim was to determine whether the expression pattern of KLF6 might be associated with gastric cancer development and, if so, to determine to which pathologic parameter it is linked. MATERIALS AND METHODS: For the construction of the gastric cancer tissue microarray, 85 paraffin-embedded tissues containing gastric cancer areas were cored 3 times and transferred to the recipient master block. The expression pattern of KLF6 was examined on tissue microarray slides by using immunohistochemistry and was compared with pathologic parameters, including histologic type, depth of invasion, lymph node metastasis, and peritoneal dissemination. RESULTS: The KLF6 protein was expressed on superficial and foveolar epithelial cells in the gastric mucosa. We found loss of KLF6 expression in 28 (32.9%) of the 85 gastric cancer tissues. There was a significant correlation between loss of KLF6 expression and lymph-node metastasis. However, other pathologic parameters, such as histologic type, depth of invasion, and peritoneal dissemination, were not statistically associated with loss of KLF6 expression. CONCLUSION: Our findings suggest that loss of KLF6 expression may contribute to abnormal regulation of gastrointestinal epithelial cell growth and differentiation and to the development and/or progression of Korean gastric cancer.
Apoptosis ; Epithelial Cells ; Gastric Mucosa ; Humans ; Immunohistochemistry ; Lymph Nodes ; Neoplasm Metastasis ; Stomach Neoplasms* ; Zinc Fingers

Zinc finger nuclease (ZFN), which is a chimeric fusion structure between a Cys2-His2 zinc-finger protein (ZFP) and the cleavage domain of Fok I endonuclease, can be used to introduce targeted double-stranded breaks (DSBs). ZFN-mediated cleavage leads to mutations when double-stranded breaks are repaired by homologous recombination (HR) or nonhomologous end joining (NHEJ). In recent years, ZFNs are widely used in the fields of genetic research. In this review, the methodology and technical advantages of ZFNs were briefly discussed.
Animals ; Deoxyribonucleases, Type II Site-Specific ; chemistry ; genetics ; metabolism ; Humans ; Zinc Fingers

Zinc-finger proteins have been widely studied due to their highly conserved structures and DNA-binding specificity of zinc-finger domains. However, researches on the zinc-finger proteins from microorganisms, especially those from prokaryotes, are still very limited. This review focuses on the latest progress on microbial zinc-finger proteins, especially those from prokaryotes and the application of artificial zinc-finger proteins in the breeding of robust strains. Artificial zinc-finger proteins with transcriptional activation or repression domain can regulate the global gene transcription of microbial cells to acquire improved phenotypes, such as stress tolerance to heat, ethanol, butanol, and osmotic pressure. Using the zinc-finger domain as DNA scaffold in the construction of enzymatic system can enhance the catalytic efficiency and subsequently the production of specific metabolites. Currently, zinc-finger domains used in the construction of artificial transcription factor are usually isolated from mammalian cells. In the near future, novel transcription factors can be designed for strain development based on the natural zinc-finger domains from different microbes, which may be used to regulate the global gene expression of microbial cells more efficiently.
Bacteria ; metabolism ; DNA ; chemistry ; Protein Engineering ; Transcription Factors ; chemistry ; Transcriptional Activation ; Zinc Fingers