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Sample records for bp deletion induced

  1. Primary quantitative analysis of the mtDNA4977bp deletion induced by lonizing radiation in human peripheral blood u-sing real-time PCR

    International Nuclear Information System (INIS)

    Objective: To observe the influence of mtDNA4977bp deletion induced by different dose of γ ray in human peripheral blood in order to explore the feasibility of mtDNA4977bp deletion as biodosimeter. Methods: Human peripheral blood samples were collected from three healthy donors and irradiated by γ ray, MtDNA4977bp deletion was detected by real-time PCR. Results: It indicated that that from the range of 0 ∼ 8 Gy, the relationship between mtDNA4977bp deletion and irradiation dose represents certain curvilinear correlation (Y=1.2693+1.0660X+0.0198X2). Conclusion: We find that γ ray has influence on the mtDNA4977bp deletion, so it may be an important biodosmeter in future. (authors)

  2. Alterations of mtDNA number and 4977 bp deletion induced by ionizing radiation in human peripheral blood

    International Nuclear Information System (INIS)

    Alterations of mitochondria DNA (mtDNA) 4977 bp common deletion (CD) and mtDNA copy number induced by ionizing radiation were observed in human different cell lines and total body irradiation patients. However, only few experiments have evaluated the levels of the CD and mtDNA copy number in human peripheral blood exposed to ionizing radiation till now. The aim of this study is to analyze the mtDNA alterations in irradiated human peripheral blood from healthy donors as well as to explore their feasibility as biomarkers for constructing new biodosimeter. Peripheral blood samples were collected from six healthy donors, and exposed to 60Co gamma ray with the doses of 0 Gy, 1 Gy, 2 Gy, 3 Gy, 4 Gy and 5 Gy. Levels of the CD and mtDNA copy number in irradiated samples after 2h or 24 h incubation were detected using TaqMan real-time PCR, and the CD ratio was calculated. The results showed that the mean of the CD ratio and the CD copy number exhibited a dose-dependent increase 2 h in the dose range from 0-5 Gy, and of the mtDNA copy number significantly increased 24 h in irradiated groups compared with 0 Gy group after irradiation. It indicates that the parameters in human peripheral blood may be considered as molecular biomarkers to applying construction of new biodosimeter. (authors)

  3. Analysis of mtDNT 4977bp deletion induced by ionizing radiation in human peripheral blood nucleated cells using real-time PCR

    International Nuclear Information System (INIS)

    To detect mitochondrial DNA(mtDNA) 4977bp deletion(triangle open mtDNA4977) in human peripheral blood nucleated cells exposed to ionizing radiation in vitro by using real-time PCR, and explore possibility of the index as biodosimetry for estimating biological dose in radiation accident,six healthy individuals' peripheral blood was collected,and the blood samples were irradiated with 0,1,2,3,4 and 5 Gy 60Co gamma-ray. The triangle open mtDNA4977 and total mtDNA copy number(mtDNAtotal) in the mtDNA samples were detected, and then the deletion rates were calculated. The results showed that the mtDNAtotal and triangle open mtDNA4977 copy number, and the deletion rates of mtDNA 4977bp in the mtDNA samples from 6 healthy individuals' blood exposed to 1-5 Gy radiation were higher than that with the samples exposed to 0 Gy radiation(p0.05). The results indicated that ionizing radiation can induce accumulation of the triangle open mtDNA4977 and increase of mtDNAtotal copy number in human peripheral blood nucleated cells,but both the mtDNA 4977bp deletion and exposure dose(0-5 Gy) were not obviously correlated. (authors)

  4. Mitochondrial DNA 4977 bp deletion is a common phenomenon in hair and increases with age

    OpenAIRE

    Zheng, Yijie; Luo, Xiaofeng; Zhu, Junfeng; Zhang, Xuan; Zhu, Yinting; Cheng, Huihua; Xia, Zhiqiu; Su, Na; Zhang, Nengpei; Zhou, Junyi

    2012-01-01

    Mitochondrial DNA (mtDNA) is believed to be particularly susceptible to oxidative damage during aging, resulting in mtDNA point mutations, duplications, and deletions. Although mtDNA deletions have been reported in various human tissues, e.g., the brain, heart, and skeletal muscle, little is known about the occurrence in hair. Therefore, we screened for the presence of mtDNA 13162 bp, 10422 bp, 7663 bp, 7436 bp, 4989 bp, and 4977 bp deletions in 90 hair samples from subjects aged 5 days to 91...

  5. Prevalence of the 4977-bp and 4408-bp mitochondrial DNA deletions in mesenteric arteries from patients with colorectal cancer.

    Science.gov (United States)

    Li, Tao; Chen, Gui-Lan; Lan, Huan; Mao, Liang; Zeng, Bo

    2016-09-01

    Mitochondrial DNA (mtDNA) deletions are found in many diseased tissues and lead to impairment of mitochondrial functions. In this study, we found wide presence of the common 4977-bp and a novel 4408-bp deletion in the mtDNA of mesenteric arteries from patients with colorectal cancer. These two deletions were also detected in samples from healthy individuals. The content of mtDNA with the 4977-bp deletion was significantly lower in healthy controls than cancer-associated samples, and there was no significant difference for the 4408-bp deletion between the two groups. These results suggest that mtDNA in blood vessels around cancer cells may be strongly affected by oxidative stress and tend to accumulate more large-scale variations. PMID:26332461

  6. Association between the CCR5 32-bp deletion allele and late onset of schizophrenia

    DEFF Research Database (Denmark)

    Rasmussen, Henrik Berg; Timm, Sally; Wang, August G; Søeby, Karen; Lublin, Henrik; Fenger, Mogens; Hemmingsen, Ralf Peter Arnfred; Werge, Thomas

    2006-01-01

    psychiatric hospital department served as a measure of disease onset. RESULTS: Patients and comparison subjects differed marginally in their genotype distribution, with a slightly higher frequency of the deletion allele seen in the patients. The authors found the deletion allele to be associated with higher......OBJECTIVE: The 32-bp deletion allele in chemokine receptor CCR5 has been associated with several immune-mediated diseases and might be implicated in schizophrenia as well. METHOD: The authors genotyped DNA samples from 268 schizophrenia patients and 323 healthy subjects. Age at first admission to a...

  7. An Asian-specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians.

    Science.gov (United States)

    Hertzberg, M; Mickleson, K N; Serjeantson, S W; Prior, J F; Trent, R J

    1989-04-01

    One hundred fifty Polynesians from five different island groups (Samoans, Maoris, Niueans, Cook Islanders, and Tongans) were surveyed for the presence of an Asian-specific length mutation of mitochondrial (mt) DNA by using enzymatic amplification with thermostable Taq DNA polymerase. Ninety-three percent of Polynesians exhibited this 9-bp deletion, including 100% of Samoans, Maoris, and Niueans. The same deletion was also found in 8% of Tolais from New Britain and in 14% of coastal New Guineans. A deletion frequency of 82% in Fijians confirmed their ethnic affinity to Polynesians. In contrast, the deletion was absent in 30 New Guinea highlanders and 31 Australian aborigines, the only exception being an aborigine who also had the Southeast Asian triplicated zeta-globin gene rearrangement in his nuclear DNA. These data support the theories claiming that an independent group of pre-Polynesian ancestors who colonized into the Pacific were ultimately derived from east Asia. PMID:2929595

  8. Common 4977 bp deletion and novel alterations in mitochondrial DNA in Vietnamese patients with breast cancer.

    Science.gov (United States)

    Dimberg, Jan; Hong, Thai Trinh; Nguyen, Linh Tu Thi; Skarstedt, Marita; Löfgren, Sture; Matussek, Andreas

    2015-01-01

    Mitochondrial DNA (mtDNA) has been proposed to be involved in carcinogenesis and ageing. The mtDNA 4977 bp deletion is one of the most frequently observed mtDNA mutations in human tissues and may play a role in breast cancer (BC). The aim of this study was to investigate the frequency of mtDNA 4977 bp deletion in BC tissue and its association with clinical factors. We determined the presence of the 4977 bp common deletion in cancer and normal paired tissue samples from 106 Vietnamese patients with BC by sequencing PCR products. The mtDNA 4977 bp deletion was significantly more frequent in normal tissue in comparison with paired cancer tissue. Moreover, the incidence of the 4977 bp deletion in BC tissue was significantly higher in patients with estrogen receptor (ER) positive as compared with ER negative BC tissue. Preliminary results showed, in cancerous tissue, a significantly higher incidence of novel deletions in the group of patients with lymph node metastasis in comparison with the patients with no lymph node metastasis. We have found 4977 bp deletion in mtDNA to be a common event in BC and with special reference to ER positive BC. In addition, the novel deletions were shown to be related to lymph node metastasis. Our finding may provide complementary information in prediction of clinical outcome including metastasis, recurrence and survival of patients with BC. PMID:25674508

  9. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.

    Science.gov (United States)

    Vissing, John; Barresi, Rita; Witting, Nanna; Van Ghelue, Marijke; Gammelgaard, Lise; Bindoff, Laurence A; Straub, Volker; Lochmüller, Hanns; Hudson, Judith; Wahl, Christoph M; Arnardottir, Snjolaug; Dahlbom, Kathe; Jonsrud, Christoffer; Duno, Morten

    2016-08-01

    Limb girdle muscular dystrophy type 2A is the most common limb girdle muscular dystrophy form worldwide. Although strict recessive inheritance is assumed, patients carrying a single mutation in the calpain 3 gene (CAPN3) are reported. Such findings are commonly attributed to incomplete mutation screening. In this investigation, we report 37 individuals (age range: 21-85 years, 21 females and 16 males) from 10 families in whom only one mutation in CAPN3 could be identified; a 21-bp, in-frame deletion (c.643_663del21). This mutation co-segregated with evidence of muscle disease and autosomal dominant transmission in several generations. Evidence of muscle disease was indicated by muscle pain, muscle weakness and wasting, significant fat replacement of muscles on imaging, myopathic changes on muscle biopsy and loss of calpain 3 protein on western blotting. Thirty-one of 34 patients had elevated creatine kinase or myoglobin. Muscle weakness was generally milder than observed in limb girdle muscular dystrophy type 2A, but affected the same muscle groups (proximal leg, lumbar paraspinal and medial gastrocnemius muscles). In some cases, the weakness was severely disabling. The 21-bp deletion did not affect mRNA maturation. Calpain 3 expression in muscle, assessed by western blot, was below 15% of normal levels in the nine mutation carriers in whom this could be tested. Haplotype analysis in four families from three different countries suggests that the 21-bp deletion is a founder mutation. This study provides strong evidence that heterozygosity for the c.643_663del21 deletion in CAPN3 results in a dominantly inherited muscle disease. The normal expression of mutated mRNA and the severe loss of calpain 3 on western blotting, suggest a dominant negative effect with a loss-of-function mechanism affecting the calpain 3 homodimer. This renders patients deficient in calpain 3 as in limb girdle muscular dystrophy type 2A, albeit in a milder form in most cases. Based on findings

  10. Detection of a 640-bp deletion in the Aggregatibacter actinomycetemcomitans leukotoxin promoter region in isolates from an adolescent of Ethiopian origin

    Directory of Open Access Journals (Sweden)

    Rolf Claesson

    2015-04-01

    Full Text Available The expression of the leukotoxin of Aggregatibacter actinomycetemcomitans is regulated by the leukotoxin promoter. A 530-bp deletion or an 886-bp insertion sequence (IS element in this region has earlier been described in highly leukotoxic isolates. Here, we report on highly leukotoxic isolate with a 640-bp deletion, which was detected in an adolescent of Ethiopian origin.

  11. Time-effect relationship of mitochondrial DNA 4977bp deletion in human peripheral blood cell after X ray irradiation

    International Nuclear Information System (INIS)

    To investigate the time-effect of mitochondrial DNA 4977bp deletion in human peripheral blood cells exposed to X ray, human peripheral whole blood samples were collected from two healthy individuals, and exposed to X rays with dose from 0 to 10 Gy. The genomic DNAs were isolated from the whole-blood samples, and the levels of mtDNA 4977bp deletion and copy number of total mtDNA in the DNA samples were detected by Real-time PCR after irradiation at 2, 12, 24, 48 and 72 h, respectively. The results showed that the copy number of mtDNA 4977bp deletion and total mtDNA, and the rates of mtDNA 4977bp deletion increase with incubation time with dose at 5 Gy after irradiation. Moreover, they increased with dose from 0 to 10 Gy after irradiation at 24 h and 72 h, respectively. The results suggested that the levels of mtDNA 4977bp deletion and the copy number of total mtDNA in human peripheral blood cells exposed to X ray were accumulated with incubation time and dose increase, respectively. (authors)

  12. 30-bp DELETION IN LATENT MEMBRANE PROTEIN 1 (LMP-1) ONCOGENE IN LYMPHOEPITHELIAL CARCINOMA OF SALIVARY GLANDS

    Institute of Scientific and Technical Information of China (English)

    陈彤箴; 杨文涛; 朱雄增

    2004-01-01

    Objective: To investigate the 30 bp deletion in LMP-1 in lymphoepithelial carcinoma of salivary glands, and to clarify the deletion rate. Methods: 46 cases of LEC were subjected to PCR examination for the 3' terminal region of LMP-1 gene, in order to observe the 30 bp deletion. To reduce the influence of unsuccessful DNA extraction from paraffin-embedded tissue sections, a (-actin PCR was performed at the same time. Additionally, DNA sequencing was performed on 1 case without deletion and 1 case with deletion. Results: 4 of 46 specimens were proved to contain no suitable DNA sample by (-actin gene amplification. In the remaining 42 cases, LMP-1 DNA was detected in 35/42 (83.3%) LEC cases. Two kinds of PCR products were found in these 35 cases after further DNA sequencing. 31 cases (88.6%) carried 316 bp product and 4 cases (11.4%) carried 286 bp product. Conclusion: Some LECs of salivary glands carry del-LMP-1. In our study, the deletion rate was 11.4% (4/35).

  13. A novel 26 bp deletion [HBB: c.20_45del26bp] in exon 1 of the β-globin gene causing β-thalassemia major.

    Science.gov (United States)

    Edison, Eunice S; Venkatesan, Rajkumar S; Govindanattar, Sankari Devi; George, Biju; Shaji, Ramachandran V

    2012-01-01

    Molecular characterization of β-thalassemia (β-thal) is essential in prevention and in understanding the biology of the disease. Deletion mutations are relatively uncommon in β-thal. In this report, we describe a novel 26 bp deletion from codon 6 to codon 14 in the β-globin in a consanguineous family from Tamil Nadu, India. This novel mutation causes a shift in the normal reading frame of the β-globin coding sequence, and consequently, a premature chain termination of translation due to the creation of a stop codon at the position of codon 21. The identification of this novel deletional mutation adds to the repertoire of β-thal mutations in India. PMID:22233277

  14. Wasted (wst) mice have 3-bp deletion in the PCNA promoter

    Energy Technology Data Exchange (ETDEWEB)

    Paunesku, T.; Woloschak, G.E. [Argonne National Lab., IL (United States). Center for Mechanistic Biology and Biotechnology

    1997-08-01

    Mice homozygous for the autosomal recessive wasted mutation (wst/wst) have abnormalities in T-lymphocytes and in the anterior motor neuron cells of the spinal cord, leading to sensitivity to ionizing radiation, hind limb paralysis, and immunodeficiency. This defect results in a failure to gain weight by 20 days and death at 28 days of age. Previous results from the authors` group have shown that (1) wasted mice have little if any detectable PCNA protein or mRNA in thymus, but levels in liver, brain, and other tissues are similar to those in controls; and (2) the coding region for PCNA is the same in wasted mice and in control littermates. These observations gave rise to the present study, in which the PCNA promoter was sequenced for wst/wst mice, control littermates ({center_dot}wst/+) and BCF{sub 1} (or BALB/c x C57BL/6) F{sub 1} controls. Sequence analysis revealed only one difference between wst/wst and BALB/c x C57BL/6 F{sub 1} littermates: a 3-bp deletion in the 5 foot upstream region of the PCNA gene of wasted mice that was observed on only one allele or no alleles of normal littermates. The mutated sites in PCNA promoter from two litters plus two additional wst/wst and two known wst/+ animals were screened with 8G and 11G probes, and each confirmed this pattern. The short term DNA segment encompassing the deletion was shown in gel shift experiments to bind a nuclear protein(s) present in a broad variety of cells including thymus and spleen nuclear extract from wst/wst and control mice. The mutated oligomer that was homozygous only in wst/wst mice was not able to bind the same nuclear protein(s).

  15. Molecular nature of ultraviolet B light-induced deletions in the murine epidermis.

    Science.gov (United States)

    Horiguchi, M; Masumura, K I; Ikehata, H; Ono, T; Kanke, Y; Nohmi, T

    2001-05-15

    Depletion of the stratospheric ozone layer leads to an increase in ambient UV loads, which are expected to raise skin cancer incidences. Tumor development in the skin could be a multistep process in which various genetic alterations, such as point mutations and deletions, occur successively. Here, we demonstrate that UVB irradiation efficiently induces deletions in the epidermis using a novel transgenic mouse, gpt delta. In this mouse model, deletions in lambda DNA integrated in the chromosome are preferentially selected as Spi(-) (sensitive to P2 interference) phages, which can then be subjected to molecular analysis. The mice were exposed to UVB at single doses of 0.3, 0.5, 1.0, 1.5, and 2.0 kJ/m(2). After 4 weeks, lambda phage was rescued from the genomic DNA of the epidermis by in vitro packaging reactions. The mutant frequencies of Spi(-) with large deletions in the epidermis increased >15-fold at a UVB dose of 0.5 kJ/m(2) over the control. Molecular sizes of most of the large deletions were >1000 bp. More than one-half of the large deletions occurred between short direct-repeat sequences from 1 to 6 bp, and the remainder had flush ends. In the unirradiated mouse, almost all of the Spi(-) mutants were 1-bp frameshifts in runs of identical bases. These results suggest that UVB irradiation induces deletions in the murine epidermis, and most of the deletions are generated through end-joining of double strand breaks in DNA. PMID:11358805

  16. A 1-bp deletion in the gammaC-crystallin leads to dominant cataracts in mice.

    Science.gov (United States)

    Zhao, Liya; Li, Kai; Bao, Shimin; Zhou, Yuxun; Liang, Yinming; Zhao, Guoji; Chen, Ye; Xiao, Junhua

    2010-08-01

    To date around 140 genetic alleles have been identified as being responsible for mouse cataract pathology, including Crya, Cryb, Cryg, Maf, Pax6, Pitx3, Sox, Connexins, MIP, and Lim-2. We obtained a dominant cataract mouse model from a spontaneous mutation in the F1 hybrids of outbred strain ICR mice crossed to the inbred strain BALB/cJ mice. Heterozygous and homozygous mutants expressed a nuclear cataract in both eyes. In 8-day-old mice, histological analysis showed that polygon epithelial cells were in the equatorial region and cortex underneath, and vacuole and sponge-like degeneration were in the cortical area underneath the posterior lens capsule. The nucleus of the lens was a deeply stained pink, with the shorter fibers losing their normal arrangement. For the entire eye, there was a blank zone in the equatorial region in 8-day-old mice; however, there was a certain degree of atrophy in cornea tension and retina in the lens in 3-month-old mice. The lens had been serious damaged in the homozygous mutants. For mutation mapping, heterozygous carriers were mated to wild-type C3H/HeJ mice, and offspring (F1 generation) with cataracts were backcrossed to the wild-type C3H/HeJ mice again. N2 mice with cataracts were used for genotyping. Using genome-wide linkage analysis, the mutation was mapped to chromosome 1 and the Cryg gene cluster between two markers was confirmed as the candidate gene. After direct sequencing the cDNA of the Cryg gene cluster, a 1-bp deletion was found in exon 3 of the Crygc gene, leading to a stop codon at the 76th amino acid of exon 3 which results in production of a truncated protein in mutant mice (Leu160Stop). Bioinformatic analysis of the mutant gammaC-crystallin reveals that the COOH-terminal of the mutant protein deletes a beta-sheet, which affects the function of the lens proteins and leads to the development of cataracts. PMID:20686773

  17. Radiosensitivity evaluation of human tumor cell lines by detecting 4977 bp deletion in mitochondrial DNA and comet assay

    International Nuclear Information System (INIS)

    Objective: To explore the feasibility of determining radiosensitivity of human tumor cell lines in vitro using the assay of mtDNA 4977 bp deletion and comet assay. Methods: Three human tumor cell lines were selected in this study, HepG2, EC-9706 and MCF-7. The surviving fraction(SF), the ratio of mtDNA 4977 bp deletion and DNA damage were detected by MTY assay, nested PCR technique and comet assay, respectively. Results: The results of MTT assay showed that the radiosensitivity of HepG2 and EC-9706 was higher than that of MCF-7. The ratio of mtDNA 4977 bp deletion of HepG2 and EC-9706 was higher significantly than that of MCF-7 (P2 and EC-9706 was higher than that of MCF-7. The difference of radiosensitivity among these three tumor cell lines was significant after 8 Gy γ-ray irradiation. Conclusions: Combination of many biological parameter is helpful to evaluate the radiosensitivity of tumor cells more accurately. (authors)

  18. The association between the HLA-G 14-bp insertion/deletion polymorphism and type 1 diabetes.

    Science.gov (United States)

    Silva, H P V; Ururahy, M A G; Souza, K S C; Loureiro, M B; Oliveira, Y M C; Oliveira, G H M; Luchessi, A D; Carvalho, K T C; Freitas, J C O C; Donadi, E A; Hirata, R D C; Almeida, M G; Arrais, R F; Hirata, M H; Rezende, A A

    2016-01-01

    Type 1 diabetes (T1D) is a multifactorial disease that has a strong genetic component. The HLA-G is a nonclassical HLA class I locus that is associated with immunomodulatory functions, including downregulation of innate and adaptive immune responses and induction of immune tolerance. However, there is currently limited information about the involvement of HLA-G in T1D susceptibility. This case-control study aims to investigate the T1D susceptibility association of alleles and genotypes of a widely investigated 14-bp insertion/deletion polymorphism in the HLA-G and to provide further evidence of the frequency distribution of class II HLA-DR-DQ-risk genotypes in T1D children and adolescents in the Brazilian population. The deletion allele and the homozygous deletion genotype are associated with susceptibility to T1D and the insertion allele and the heterozygous deletion/insertion genotype are associated with protection from T1D. We also confirm that genetic susceptibility to T1D is associated with the DRB1*03:01-DQA1*05:01-DQB1*02:01 and DRB1*04-DQA1*03:01-DQB1*03:02 haplotypes in Brazilian northeast region. The DR3-DQ2/DR4-DQ8 genotype conferred the highest detected risk for T1D. Our results identify a novel association of the 14-bp deletion allele and the homozygous deletion genotype with T1D development and provide additional evidence of the importance of HLA class II heterozygous DR3-DQ2/DR4-DQ8 genotype in T1D susceptibility. PMID:26492519

  19. Association of an HLA-G 14-bp Insertion/Deletion polymorphism with high HBV replication in chronic hepatitis.

    Science.gov (United States)

    Laaribi, A B; Zidi, I; Hannachi, N; Ben Yahia, H; Chaouch, H; Bortolotti, D; Zidi, N; Letaief, A; Yacoub, S; Boudabous, A; Rizzo, R; Boukadida, J

    2015-10-01

    Identification of an HLA-G 14-bp Insertion/Deletion (Ins/Del) polymorphism at the 3' untranslated region of HLA-G revealed its importance in HLA-G mRNA stability and HLA-G protein level variation. We evaluated the association between the HLA-G 14-bp Ins/Del polymorphism in patients with chronic Hepatitis B virus (HBV) infection in a case-control study. Genomic DNA was extracted from 263 patients with chronic HBV hepatitis and 246 control subjects and was examined for the HLA-G 14-bp Ins/Del polymorphism by PCR. The polymorphic variants were genotyped in chronic HBV seropositive cases stratified according to HBV DNA levels, fibrosis stages and in a control population. There was no statistical significant association between the 14-bp Ins/Del polymorphism and increased susceptibility to HBV infection neither for alleles (P = 0.09) nor for genotypes (P = 0.18). The stratification of HBV patients based on HBV DNA levels revealed an association between the 14-bp Ins/Del polymorphism and an enhanced HBV activity with high HBV DNA levels. In particular, the Ins allele was significantly associated with high HBV DNA levels (P = 0.0024, OR = 1.71, 95% CI 1.2-2.4). The genotype Ins/Ins was associated with a 2.5-fold (95% CI, 1.29-4.88) increased risk of susceptibility to high HBV replication compared with the Del/Del and Ins/Del genotypes. This susceptibility is linked to the presence of two Ins alleles. No association was observed between the 14-bp Ins/Del polymorphism and fibrosis stage of HBV infection. We observed an association between the 14-bp Ins/Del polymorphism and high HBV replication characterized by high HBV DNA levels in chronic HBV patients. These results suggest a potential prognostic value for disease outcome evaluation. PMID:25619305

  20. Association between sHLA-G and HLA-G 14-bp deletion/insertion polymorphism in Crohn's disease.

    Science.gov (United States)

    Zidi, Inès; Ben Yahia, Hamza; Bortolotti, Daria; Mouelhi, Leila; Laaribi, Ahmed Baligh; Ayadi, Shema; Zidi, Nour; Houissa, Fatma; Debbech, Radhouane; Boudabous, Abdellatif; Najjar, Taoufik; Di Luca, Dario; Rizzo, Roberta

    2015-06-01

    The aim of this study was to evaluate the association between the HLA-G 14-bp deletion/insertion (Del/Ins) polymorphism and soluble (s) HLA-G production in patients with Crohn's disease (CD). We analyzed also the sHLA-G molecules by ELISA and western blot in plasma samples. Among unselected patients, the 14-bp Del/Ins polymorphism was not significantly associated with increased CD risk neither for alleles (P = 0.371) nor for genotypes (P = 0.625). However, a significant association was reported between the 14-bp Del/Ins polymorphism and CD, in particular in young-onset CD patients for alleles [P = 0.020, odds ratio (OR) = 2.438, 95% confidence interval (CI): 1.13-5.25] but not with adult-onset CD patients. A significant association was reported concerning the genotype Ins/Ins for young-onset CD patients (P = 0.029, OR = 3.257, 95% CI: 1.08-9.77). We observed also a significant increase in sHLA-G measured by ELISA in CD patients compared to controls (P = 0.002). The 14-bp Del/Del and 14-bp Del/Ins genotypes are the high HLA-G producers. Among sHLA-G(positive) patients, 43% of subjects present dimers of HLA-G. The presence of dimers seems to be related to the advanced stages of the disease. The 14-bp Del/Ins polymorphism is associated with an increased risk of CD particularly in young-onset CD patients and controls sHLA-G plasma levels. Dimers of sHLA-G are frequent in advanced disease stages. The above findings indicate that the genetic 14-bp Del/Ins polymorphism in exon 8 of the HLA-G gene is associated with the risk of CD and suggest a role for sHLA-G as a prognostic marker for progressive disease. PMID:25577194

  1. Construction of unmarked bp26 gene-deleted strains of Brucella spp.%布鲁氏菌bp26基因缺失株的构建

    Institute of Scientific and Technical Information of China (English)

    潘文; 王佳莹; 赵明秋; 珺春梅; 易琳; 常艳; 虞红娇; 陈金顶

    2011-01-01

    选择含有反向筛选基因sacB标记的pRE112质粒为自杀载体,利用等位基因交换的方法成功敲除了布鲁氏菌弱毒疫苗S19株、S2株、M5株的bp26基因,构建了具有非杭性基因标记的缺失株S19-△bp26、S2-△bp26、M5-△bp26.将构建的重组自杀质粒pRE-△bp26(缺失了bp26基因的681个碱基)电转化入布鲁氏菌后,经过5μg/mL氯霉素筛选单交换子和70g/L蔗糖筛选同源重组双交换子,用菌落PCR及DNA测序的方法进行验证.结果表明,bp26基因的缺失改造成功,连续传20代后菌落PCR及DNA测序的结果显示突变株具有遗传稳定性.以pRE112自杀质粒为基础构建无杭性基因标记的布鲁氏菌缺失株为布鲁氏菌的基因功能研究莫定了基础,同时△bp26缺失株的构建可为新型布普氏菌疫苗的研制莫定基础.%Three unmarked gene deletion strains of Brucella spp., S19-Δbp26, M5-Δbp26 and S2-Δbp26,were constructed by the allelic exchange introduced by the transformation of the pRE1l2 suicide plasmid containing counter-selection gene sacB.Firstly, the upstream and downstream fragments of bp26 gene were amplified from Brucella spp.genome and then subcloned into suicide plasmid pRE112 to construct the recombinant suicide vector pRE-Δbp26 with 681 bp-deleted bp26 gene fragment.The recombinant suicide vector pREΔbp26 was transformed by electroporation into Brucella spp.and the transformants were selected on TSB-YE plates containing 5 μg/mL chloramphenicol and then 70 g/L sucrose.The successful construction of bp26 gene deletion strains of Brucella spp.were confirmed by the bacterial colony PCR and DNA sequencing.Twenty generations of continuous passage of the S19-Δbp26, M5-Δbp26 and S2-Δbp26 strains showed genetic stability in vitro.The application of pRE112 provided a new suicide plasmid for the construction of unmarked gene deletion strain of Brucella spp.and these strains would be utilized for the study of gene function of Brucella

  2. A closed-tube assay for genotyping of the 32-bp deletion polymorphism in the chemokine receptor 5 (CCR5) gene

    DEFF Research Database (Denmark)

    Rasmussen, Henrik Berg; Werge, Thomas

    2007-01-01

    We have developed a closed-tube assay for determination of the chemokine receptor type 5 (CCR5) 32-bp deletion allele, which protects against infections with HIV and modulates susceptibility to a variety of inflammatory diseases. This assay utilizes dissociation analysis of amplified products in...

  3. Genotyping of the 19-bp insertion/deletion polymorphism in the 5' flank of beta-hydroxylase gene by dissociation analysis of allele-specific PCR products

    DEFF Research Database (Denmark)

    Rasmussen, Henrik Berg; Werge, Thomas

    2005-01-01

    The 19-bp insertion/deletion polymorphism in the 5' flank of the dopamine beta-hydroxylase (DBH) gene has been associated with psychiatric disorders. We have developed a simple, reliable and inexpensive closed-tube assay for genotyping of this polymorphism based upon T(m) determination of amplified...

  4. Epstein-Barr virus latent membrane protein-1 (LMP-1 30-bp deletion and Xho I-loss is associated with type III nasopharyngeal carcinoma in Malaysia

    Directory of Open Access Journals (Sweden)

    See Hui

    2008-02-01

    Full Text Available Abstract Background Nasopharyngeal carcinoma (NPC is a human epithelial tumour with high prevalence amongst Chinese in Southern China and South East Asia and is associated with the Epstein-Barr virus (EBV. The viral genome harbours an oncogene, namely, the latent membrane protein 1 (LMP1 gene and known variants such as the 30-bp deletion and loss of XhoI restriction site have been found. Less is known about the relationship between these variants and the population characteristics and histological type. Methods In this study, the EBV LMP1 gene variants from 42 NPC and 10 non-malignant archived formalin fixed, paraffin-embedded tissues, as well as plasma from another 35 patients with nasopharyngeal carcinoma were determined by using Polymerase Chain Reaction (PCR. Statistical analysis was performed by using SPSS programme. Results LMP1 30-bp deletion was detected in 19/34 (55.9% of NPC tissues, 7/29 (24.1% of plasma but absent in non-malignant tissues (8/8. Coexistence of variants with and without 30bp deletion was found only in 5/29 (17.2% plasma samples but not in NPC tissues. The loss of XhoI restriction site in LMP1 gene was found in 34/39 (87.2% of the NPC tissues and 11/30 (36.7% of plasma samples. None of the non-malignant nasopharyngeal tissues (8/8 harbour XhoI-loss variants. LMP1 30-bp deletion was detected in 16/18 Chinese versus 3/15 Malays and 13/16 type III (undifferentiated carcinoma versus 1/6 type I (keratinizing squamous cell carcinoma. XhoI-loss was found in 19/19 Chinese versus 14/19 Malays and 18/18 type III (undifferentiated versus 2/5 type I (keratinizing squamous cell carcinoma. Statistical analysis showed that these variants were associated with ethnic race (30-bp deletion, p XhoI-loss, p = 0.046 and histological type of NPC (30-bp deletion, p = 0.011; XhoI-loss, p = 0.006. Nineteen out of 32 NPC tissues (19/32; 59.4% and 6/24 (25% of plasma samples showed the coexistence of both the 30-bp deletion and the loss of Xho

  5. Blocking rpS6 Phosphorylation Exacerbates Tsc1 Deletion-Induced Kidney Growth.

    Science.gov (United States)

    Wu, Huijuan; Chen, Jianchun; Xu, Jinxian; Dong, Zheng; Meyuhas, Oded; Chen, Jian-Kang

    2016-04-01

    The molecular mechanisms underlying renal growth and renal growth-induced nephron damage remain poorly understood. Here, we report that in murine models, deletion of the tuberous sclerosis complex protein 1 (Tsc1) in renal proximal tubules induced strikingly enlarged kidneys, with minimal cystogenesis and occasional microscopic tumorigenesis. Signaling studies revealed hyperphosphorylation of eukaryotic translation initiation factor 4E-binding protein 1 (4E-BP1) and increased phosphorylation of ribosomal protein S6 (rpS6) in activated renal tubules. Notably, knockin of a nonphosphorylatable rpS6 in theseTsc1-mutant mice exacerbated cystogenesis and caused drastic nephron damage and renal fibrosis, leading to kidney failure and a premature death rate of 67% by 9 weeks of age. In contrast,Tsc1single-mutant mice were all alive and had far fewer renal cysts at this age. Mechanistic studies revealed persistent activation of mammalian target of rapamycin complex 1 (mTORC1) signaling causing hyperphosphorylation and consequent accumulation of 4E-BP1, along with greater cell proliferation, in the renal tubules ofTsc1andrpS6double-mutant mice. Furthermore, pharmacologic treatment ofTsc1single-mutant mice with rapamycin reduced hyperphosphorylation and accumulation of 4E-BP1 but also inhibited phosphorylation of rpS6. Rapamycin also exacerbated cystic and fibrotic lesions and impaired kidney function in these mice, consequently leading to a premature death rate of 40% within 2 weeks of treatment, despite destroying tumors and decreasing kidney size. These findings indicate that Tsc1 prevents aberrant renal growth and tumorigenesis by inhibiting mTORC1 signaling, whereas phosphorylated rpS6 suppresses cystogenesis and fibrosis inTsc1-deleted kidneys. PMID:26296742

  6. Chlorambucil effectively induces deletion mutations in mouse germ cells.

    OpenAIRE

    Russell, L B; Hunsicker, P R; Cacheiro, N L; Bangham, J W; Russell, W. L.; Shelby, M D

    1989-01-01

    The chemotherapeutic agent chlorambucil was found to be more effective than x-rays or any chemical investigated to date in inducing high yields of mouse germ-line mutations that appear to be deletions or other structural changes. Induction of mutations involving seven specific loci was studied after exposures of various male germ-cell stages to chlorambucil at 10-25 mg/kg. A total of 60,750 offspring was scored. Mutation rates in spermatogonial stem cells were not significantly increased over...

  7. Sequence analysis for the complete proviral genome of subgroup J Avian Leukosis virus associated with hemangioma: a special 11 bp deletion was observed in U3 region of 3'UTR

    Directory of Open Access Journals (Sweden)

    Zou Nianli

    2011-04-01

    Full Text Available Abstract Background Avian Leukosis virus (ALV of subgroup J (ALV-J belong to retroviruses, which could induce tumors in domestic and wild birds. Myelocytomatosis was the most common neoplasma observed in infected flocks; however, few cases of hemangioma caused by ALV-J were reported in recent year. Results An ALV-J strain SCDY1 associated with hemangioma was isolated and its proviral genomic sequences were determined. The full proviral sequence of SCDY1 was 7489 nt long. Homology analysis of the env, pol and gag gene between SCDY1 and other strains in GenBank were 90.3-94.2%, 96.6-97.6%, and 94.3-96.5% at nucleotide level, respectively; while 85.1-90.7%, 97.4-98.7%, and 96.2-98.4% at amino acid level, respectively. Alignment analysis of the genomic sequence of ALV-J strains by using HPRS-103 as reference showed that a special 11 bp deletion was observed in U3 region of 3'UTR of SCDY1 and another ALV-J strain NHH isolated from case of hemangioma, and the non-functional TM and E element were absent in the genome of SCDY1, but the transcriptional regulatory elements including C/EBP, E2BP, NFAP-1, CArG box and Y box were highly conserved. Phylogenetic analysis revealed that all analyzed ALV-J strains could be separated into four groups, and SCDY1 as well as another strain NHH were included in the same cluster. Conclusion The variation in envelope glycoprotein was higher than other genes. The genome sequence of SCDY1 has a close relationship with that of another ALV-J strain NHH isolated from case of hemangioma. A 11 bp deletion observed in U3 region of 3'UTR of genome of ALV-J isolated from case of hemangioma is interesting, which may be associated with the occurrence of hemangioma.

  8. Genotyping of the 19-bp insertion/deletion polymorphism in the 5' flank of beta-hydroxylase gene by dissociation analysis of allele-specific PCR products

    DEFF Research Database (Denmark)

    Rasmussen, Henrik Berg; Werge, Thomas

    2005-01-01

    The 19-bp insertion/deletion polymorphism in the 5' flank of the dopamine beta-hydroxylase (DBH) gene has been associated with psychiatric disorders. We have developed a simple, reliable and inexpensive closed-tube assay for genotyping of this polymorphism based upon T(m) determination of amplified...... DNA fragments. Mistyping of heterozygote samples due to preferential allele amplification was prevented by use of an optimized concentration of Mg(2+), addition of dimethyl sulfoxide and annealing/extension at an appropriate temperature. Comparison of results achieved by the closed-tube assay and a...... conventional approach based upon agarose gel electrophoresis of amplified fragments revealed complete concordance between the two procedures. The insights obtained in this study may be utilized to develop assays based upon dissociation analysis of PCR products for genotyping of other insertion...

  9. A 6-bp deletion in exon 8 and two mutations in introns of TYRP1 are associated with blond coat color in Liangshan pigs.

    Science.gov (United States)

    Wu, Xiaoqian; Zhang, Yi; Shen, Linyuan; Du, Jingjing; Luo, Jia; Liu, Chendong; Pu, Qiang; Yang, Runlin; Li, Xuewei; Bai, Lin; Tang, Guoqing; Zhang, Shunhua; Zhu, Li

    2016-03-01

    Melanocortin receptor 1 (MC1R), Agouti signaling protein (ASIP), and Tyrosinase-related protein 1 (TYRP1) are reported critical genes that regulate pheomelanin and eumelanin synthesis in mammals. Liangshan pig is a special Chinese indigenous pig breed with two completely different coat colors, solid black and blond. In this study, we detected polymorphisms of the above three genes and assessed the relationships between the variations and coat color phenotypes in Liangshan pigs. The findings revealed that the blond phenotype of Liangshan pig was related to dominant mutations in TYRP1, but not related to mutations in MC1R or ASIP. We found three closely linked mutations in TYRP1, g.8406G>A in intron 4, g.11100A>G in intron 5, and g.17599_17604del in exon 8, that were completely associated with blond coat color in Liangshan pigs. Further analysis revealed that a 6-bp deletion mutation resulted in deletion of Met and Gly residues at positions 495 and 496 in TYRP1 protein, and altered the structure of transmembrane domain of TYRP1. Together, our findings indicated that these three mutations in TYRP1 cause the blond phenotype in Liangshan pigs. PMID:26680103

  10. SSCP analysis and sequencing of the human prion protein gene (PRNP) detects two different 24 bp deletions in an atypical Alzheimer`s disease family

    Energy Technology Data Exchange (ETDEWEB)

    Perry, R.T.; Go, R.C.P.; Harrell, L.E.; Acton, R.T. [Univ. of Alabama, Birmingham, AL (United States)

    1995-02-27

    Alzheimer`s disease (AD) is a progressive, degenerative neurological disorder of the central nervous system. AD is the fourth leading cause of death in elderly persons 65 years or older in Western industrialized societies. The etiology of AD is unknown, but clinical, pathological, epidemiological, and molecular investigations suggest it is etiologically heterogeneous. Mutations in the amyloid protein are rare and segregate with the disease in a few early-onset familial AD (FAD) families. Similarities between AD and the unconventional viral (UCV) diseases, and between the amyloid and prion proteins, implicate the human prion protein gene (PRNP) as another candidate gene. Single strand conformation polymorphism (SSCP) analysis was used to screen for mutations at this locus in 82 AD patients from 54 families (30 FAD), vs. 39 age-matched controls. A 24-bp deletion around codon 68 that codes for one of five Gly-Pro rich octarepeats was identified in two affected sibs and one offspring of one late-onset FAD family. Two other affected sibs, three unaffected sibs, and three offspring from this family, in addition to one sporadic AD patient and three age-matched controls, were heterozygous for another octarepeat deletion located around codon 82. Two of the four affected sibs had features of PD, including one who was autopsy-verified AD and PD. Although these deletions were found infrequently in other AD patients and controls, they appear to be a rare polymorphism that is segregating in this FAD family. It does not appear that mutations at the PRNP locus are frequently associated with AD in this population. 54 refs., 4 figs.

  11. Radiation-induced point mutations, deletions and micronuclei in lacI transgenic mice

    International Nuclear Information System (INIS)

    The development of transgenic mutagenesis systems has now made it possible to study the effects of ionizing radiation at both the molecular and chromosomal levels in the same animal. In this report we present preliminary data on the response of Big BlueTM lacI transgenic mice to ionizing radiation as measured by lacI mutations and micronuclei. C57Bl/6 transgenic mice were irradiated with 137Cs γ-rays at doses ranging from 0.1 to 14 Gy, and expression times ranging from 2 to 14 days. Dose-related increases in the mutant frequency were observed after irradiations with longer expression times. Mutant plaques were analyzed by restriction enzyme digestion to detect large structural changes in the target sequence. Of 34 γ-ray- induced mutations analyzed, 4 were large-scale rearrangements. Three of these rearrangements were deletions within the lacI gene characterized by the presence of short regions of homology at the breakpoint junctions. The fourth rearrangement was a deletion that extended from within the αlacZ gene into downstream sequences and that had 43 bp of homology at the junction. These data indicate that the Big BlueTM lacI transgenic mouse system is sensitive to the types of mutations induced by ionizing radiation. To determine whether the presence of the transgene affects micronucleus induction we compared the response of nontransgenic to hemizygous transgenic B6C3F1 mice and the response of nontransgenic to hemizygous and homozygous transgenic C57Bl/6 mice. The presence or absence of the lacI transgene had no effect on spontaneous micronucleus frequencies for either strain. However, radiation-induced micronucleus frequencies were significantly higher in hemizygous lacI B6C3F1 mice than in nontransgenic litter mates; the converse was true in C57Bl/6 mice. These data suggest that the lacI transgene does not cause chromosome instability as measured by spontaneous micronucleus levels. However, the response of these transgenic mice to a variety of

  12. Isolation and Functional Validation of Salinity and Osmotic Stress Inducible Promoter from the Maize Type-II H+-Pyrophosphatase Gene by Deletion Analysis in Transgenic Tobacco Plants.

    Science.gov (United States)

    Hou, Jiajia; Jiang, Pingping; Qi, Shoumei; Zhang, Ke; He, Qiuxia; Xu, Changzheng; Ding, Zhaohua; Zhang, Kewei; Li, Kunpeng

    2016-01-01

    Salinity and drought severely affect both plant growth and productivity, making the isolation and characterization of salinity- or drought-inducible promoters suitable for genetic improvement of crop resistance highly desirable. In this study, a 1468-bp sequence upstream of the translation initiation codon ATG of the promoter for ZmGAPP (maize Type-II H+-pyrophosphatase gene) was cloned. Nine 5´ deletion fragments (D1-D9) of different lengths of the ZmGAPP promoter were fused with the GUS reporter and translocated into tobacco. The deletion analysis showed that fragments D1-D8 responded well to NaCl and PEG stresses, whereas fragment D9 and CaMV 35S did not. The D8 segment (219 bp; -219 to -1 bp) exhibited the highest promoter activity of all tissues, with the exception of petals among the D1-D9 transgenic tobacco, which corresponds to about 10% and 25% of CaMV 35S under normal and NaCl or PEG stress conditions, respectively. As such, the D8 segment may confer strong gene expression in a salinity and osmotic stress inducible manner. A 71-bp segment (-219 to -148 bp) was considered as the key region regulating ZmGAPP response to NaCl or PEG stress, as transient transformation assays demonstrated that the 71-bp sequence was sufficient for the salinity or osmotic stress response. These results enhance our understanding of the molecular mechanisms regulating ZmGAPP expression, and that the D8 promoter would be an ideal candidate for moderating expression of drought and salinity response genes in transgenic plants. PMID:27101137

  13. Isolation and Functional Validation of Salinity and Osmotic Stress Inducible Promoter from the Maize Type-II H+-Pyrophosphatase Gene by Deletion Analysis in Transgenic Tobacco Plants

    Science.gov (United States)

    Zhang, Ke; He, Qiuxia; Xu, Changzheng; Ding, Zhaohua; Zhang, Kewei; Li, Kunpeng

    2016-01-01

    Salinity and drought severely affect both plant growth and productivity, making the isolation and characterization of salinity- or drought-inducible promoters suitable for genetic improvement of crop resistance highly desirable. In this study, a 1468-bp sequence upstream of the translation initiation codon ATG of the promoter for ZmGAPP (maize Type-II H+-pyrophosphatase gene) was cloned. Nine 5´ deletion fragments (D1–D9) of different lengths of the ZmGAPP promoter were fused with the GUS reporter and translocated into tobacco. The deletion analysis showed that fragments D1–D8 responded well to NaCl and PEG stresses, whereas fragment D9 and CaMV 35S did not. The D8 segment (219 bp; -219 to -1 bp) exhibited the highest promoter activity of all tissues, with the exception of petals among the D1–D9 transgenic tobacco, which corresponds to about 10% and 25% of CaMV 35S under normal and NaCl or PEG stress conditions, respectively. As such, the D8 segment may confer strong gene expression in a salinity and osmotic stress inducible manner. A 71-bp segment (-219 to -148 bp) was considered as the key region regulating ZmGAPP response to NaCl or PEG stress, as transient transformation assays demonstrated that the 71-bp sequence was sufficient for the salinity or osmotic stress response. These results enhance our understanding of the molecular mechanisms regulating ZmGAPP expression, and that the D8 promoter would be an ideal candidate for moderating expression of drought and salinity response genes in transgenic plants. PMID:27101137

  14. Conditional deletion of ferritin H in mice induces loss of iron storage and liver damage

    OpenAIRE

    Darshan, Deepak; Vanoaica, Liviu; Richman, Larry; Beermann, Friedrich; Kühn, Lukas C.

    2009-01-01

    Ferritin plays a central role in iron metabolism by acting both as iron storage and detoxifying protein. We have generated a ferritin H allele with loxP sites and studied the conditional ferritin H deletion in adult mice. Ten days after Mx-Cre induced deletion, ferritin H mRNA was below 5% in the liver, spleen and bone marrow of deleted mice compared to control littermates. Mice lost their cellular iron stores indicating the requirement of ferritin H in iron deposition. Serum iron and...

  15. The Immature Fiber Mutant Phenotype of Cotton (Gossypium hirsutum) Is Linked to a 22-bp Frame-Shift Deletion in a Mitochondria Targeted Pentatricopeptide Repeat Gene.

    Science.gov (United States)

    Thyssen, Gregory N; Fang, David D; Zeng, Linghe; Song, Xianliang; Delhom, Christopher D; Condon, Tracy L; Li, Ping; Kim, Hee Jin

    2016-01-01

    Cotton seed trichomes are the most important source of natural fibers globally. The major fiber thickness properties influence the price of the raw material, and the quality of the finished product. The recessive immature fiber (im) gene reduces the degree of fiber cell wall thickening by a process that was previously shown to involve mitochondrial function in allotetraploid Gossypium hirsutum Here, we present the fine genetic mapping of the im locus, gene expression analysis of annotated proteins near the locus, and association analysis of the linked markers. Mapping-by-sequencing identified a 22-bp deletion in a pentatricopeptide repeat (PPR) gene that is completely linked to the immature fiber phenotype in 2837 F2 plants, and is absent from all 163 cultivated varieties tested, although other closely linked marker polymorphisms are prevalent in the diversity panel. This frame-shift mutation results in a transcript with two long open reading frames: one containing the N-terminal transit peptide that targets mitochondria, the other containing only the RNA-binding PPR domains, suggesting that a functional PPR protein cannot be targeted to mitochondria in the im mutant. Taken together, these results suggest that PPR gene Gh_A03G0489 is involved in the cotton fiber wall thickening process, and is a promising candidate gene at the im locus. Our findings expand our understanding of the molecular mechanisms that modulate cotton fiber fineness and maturity, and may facilitate the development of cotton varieties with superior fiber attributes. PMID:27172184

  16. The Immature Fiber Mutant Phenotype of Cotton (Gossypium hirsutum Is Linked to a 22-bp Frame-Shift Deletion in a Mitochondria Targeted Pentatricopeptide Repeat Gene

    Directory of Open Access Journals (Sweden)

    Gregory N. Thyssen

    2016-06-01

    Full Text Available Cotton seed trichomes are the most important source of natural fibers globally. The major fiber thickness properties influence the price of the raw material, and the quality of the finished product. The recessive immature fiber (im gene reduces the degree of fiber cell wall thickening by a process that was previously shown to involve mitochondrial function in allotetraploid Gossypium hirsutum. Here, we present the fine genetic mapping of the im locus, gene expression analysis of annotated proteins near the locus, and association analysis of the linked markers. Mapping-by-sequencing identified a 22-bp deletion in a pentatricopeptide repeat (PPR gene that is completely linked to the immature fiber phenotype in 2837 F2 plants, and is absent from all 163 cultivated varieties tested, although other closely linked marker polymorphisms are prevalent in the diversity panel. This frame-shift mutation results in a transcript with two long open reading frames: one containing the N-terminal transit peptide that targets mitochondria, the other containing only the RNA-binding PPR domains, suggesting that a functional PPR protein cannot be targeted to mitochondria in the im mutant. Taken together, these results suggest that PPR gene Gh_A03G0489 is involved in the cotton fiber wall thickening process, and is a promising candidate gene at the im locus. Our findings expand our understanding of the molecular mechanisms that modulate cotton fiber fineness and maturity, and may facilitate the development of cotton varieties with superior fiber attributes.

  17. The Immature Fiber Mutant Phenotype of Cotton (Gossypium hirsutum) Is Linked to a 22-bp Frame-Shift Deletion in a Mitochondria Targeted Pentatricopeptide Repeat Gene

    Science.gov (United States)

    Thyssen, Gregory N.; Fang, David D.; Zeng, Linghe; Song, Xianliang; Delhom, Christopher D.; Condon, Tracy L.; Li, Ping; Kim, Hee Jin

    2016-01-01

    Cotton seed trichomes are the most important source of natural fibers globally. The major fiber thickness properties influence the price of the raw material, and the quality of the finished product. The recessive immature fiber (im) gene reduces the degree of fiber cell wall thickening by a process that was previously shown to involve mitochondrial function in allotetraploid Gossypium hirsutum. Here, we present the fine genetic mapping of the im locus, gene expression analysis of annotated proteins near the locus, and association analysis of the linked markers. Mapping-by-sequencing identified a 22-bp deletion in a pentatricopeptide repeat (PPR) gene that is completely linked to the immature fiber phenotype in 2837 F2 plants, and is absent from all 163 cultivated varieties tested, although other closely linked marker polymorphisms are prevalent in the diversity panel. This frame-shift mutation results in a transcript with two long open reading frames: one containing the N-terminal transit peptide that targets mitochondria, the other containing only the RNA-binding PPR domains, suggesting that a functional PPR protein cannot be targeted to mitochondria in the im mutant. Taken together, these results suggest that PPR gene Gh_A03G0489 is involved in the cotton fiber wall thickening process, and is a promising candidate gene at the im locus. Our findings expand our understanding of the molecular mechanisms that modulate cotton fiber fineness and maturity, and may facilitate the development of cotton varieties with superior fiber attributes. PMID:27172184

  18. Mitochondrial DNA deletion and impairment of mitochondrial biogenesis are mediated by reactive oxygen species in ionizing radiation-induced premature senescence

    International Nuclear Information System (INIS)

    Mitochondrial DNA (mtDNA) deletion is a well-known marker for oxidative stress and aging, and contributes to harmful effects in cultured cells and animal tissues. mtDNA biogenesis genes (NRF-1, TFAM) are essential for the maintenance of mtDNA, as well as the transcription and replication of mitochondrial genomes. Considering that oxidative stress is known to affect mitochondrial biogenesis, we hypothesized that ionizing radiation (IR)-induced reactive oxygen species (ROS) causes mtDNA deletion by modulating the mitochondrial biogenesis, thereby leading to cellular senescence. Therefore, we examined the effects of IR on ROS levels, cellular senescence, mitochondrial biogenesis, and mtDNA deletion in IMR-90 human lung fibroblast cells. Young IMR-90 cells at population doubling (PD) 39 were irradiated at 4 or 8 Gy. Old cells at PD55, and H2O2-treated young cells at PD 39, were compared as a positive control. The IR increased the intracellular ROS level, senescence-associated β-galactosidase (SA-β-gal) activity, and mtDNA common deletion (4977 bp), and it decreased the mRNA expression of NRF-1 and TFAM in IMR-90 cells. Similar results were also observed in old cells (PD 55) and H2O2-treated young cells. To confirm that a increase in ROS level is essential for mtDNA deletion and changes of mitochondrial biogenesis in irradiated cells, the effects of N-acetylcysteine (NAC) were examined. In irradiated and H2O2-treated cells, 5 mM NAC significantly attenuated the increases of ROS, mtDNA deletion, and SA-β-gal activity, and recovered from decreased expressions of NRF-1 and TFAM mRNA. These results suggest that ROS is a key cause of IR-induced mtDNA deletion, and the suppression of the mitochondrial biogenesis gene may mediate this process.

  19. Mitochondrial DNA deletion and impairment of mitochondrial biogenesis are mediated by reactive oxygen species in ionizing radiation-induced premature senescence

    Energy Technology Data Exchange (ETDEWEB)

    Eom, Hyeon Soo; Jung, U Hee; Jo, Sung Kee [Radiation Biotechnology Research Division, Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of); Kim, Young Sang [College of Natural Sciences, Chungnam National University, Daejeon (Korea, Republic of)

    2011-09-15

    Mitochondrial DNA (mtDNA) deletion is a well-known marker for oxidative stress and aging, and contributes to harmful effects in cultured cells and animal tissues. mtDNA biogenesis genes (NRF-1, TFAM) are essential for the maintenance of mtDNA, as well as the transcription and replication of mitochondrial genomes. Considering that oxidative stress is known to affect mitochondrial biogenesis, we hypothesized that ionizing radiation (IR)-induced reactive oxygen species (ROS) causes mtDNA deletion by modulating the mitochondrial biogenesis, thereby leading to cellular senescence. Therefore, we examined the effects of IR on ROS levels, cellular senescence, mitochondrial biogenesis, and mtDNA deletion in IMR-90 human lung fibroblast cells. Young IMR-90 cells at population doubling (PD) 39 were irradiated at 4 or 8 Gy. Old cells at PD55, and H2O2-treated young cells at PD 39, were compared as a positive control. The IR increased the intracellular ROS level, senescence-associated {beta}-galactosidase (SA-{beta}-gal) activity, and mtDNA common deletion (4977 bp), and it decreased the mRNA expression of NRF-1 and TFAM in IMR-90 cells. Similar results were also observed in old cells (PD 55) and H{sub 2}O{sub 2}-treated young cells. To confirm that a increase in ROS level is essential for mtDNA deletion and changes of mitochondrial biogenesis in irradiated cells, the effects of N-acetylcysteine (NAC) were examined. In irradiated and H{sub 2}O{sub 2}-treated cells, 5 mM NAC significantly attenuated the increases of ROS, mtDNA deletion, and SA-{beta}-gal activity, and recovered from decreased expressions of NRF-1 and TFAM mRNA. These results suggest that ROS is a key cause of IR-induced mtDNA deletion, and the suppression of the mitochondrial biogenesis gene may mediate this process.

  20. A 1-bp deletion in Fgf5 causes male-dominant long hair in the Syrian hamster.

    Science.gov (United States)

    Yoshizawa, Yasuhiro; Wada, Kenta; Shiomi, Gaku; Kameyama, Yuichi; Wakabayashi, Yuichi; Fukuta, Katsuhiro; Hashizume, Ryoichi

    2015-12-01

    Hair length in mammals is generally regulated by the hair cycle, and its disruption leads to abnormal hair morphogenesis in several species. FGF5, one of the hair cycle regulators, has a role in inducing catagen, and that mutation causes abnormal hair length in both sexes in humans, mice, dogs, and cats. Male-dominant long-haired coat (MALC) is an inbred strain of Syrian hamster exhibiting spontaneous long hair in males. After castration, MALC exhibited significantly shorter hair than the control individuals, but testosterone administration to castrated MALC showed reversion to the original phenotype. Moreover, flutamide administration led to MALC phenotype repression. Histological analysis revealed that hair follicle regression was shown in the wild-type 4 weeks after depilation, but that of MALC remained in the anagen phase. We detected a c.546delG of Fgf5 in MALC (Fgf5malc) that might lead to truncation resulting from a frame shift in FGF5 (p.Arg184GlyfsX6). Additionally, homozygous Fgf5malc was only detected in long-haired (Slc:Syrian×MALC)F2 and (J-2-Nn×MALC)F2 progenies, and all homozygous wild and heterozygous Fgf5malc individuals showed normal hair length. Thus, Fgf5malc leads to male-dominant long hair via a prolonged anagen phase which is affected by testosterone in hamsters. To our knowledge, this report is the first to present the sexual dimorphism of hair length caused by the Fgf5 mutation. PMID:26481120

  1. Inhibition of HIF-1{alpha} activity by BP-1 ameliorates adjuvant induced arthritis in rats

    Energy Technology Data Exchange (ETDEWEB)

    Shankar, J. [Department of Microbiology and Immunology, University of Illinois at Chicago, Chicago (United States); Thippegowda, P.B., E-mail: btprabha@uic.edu [Department of Pharmacology, (M/C 868), College of Medicine, University of Illinois at Chicago, 835 S. Wolcott Ave., Chicago, IL 60612 (United States); Kanum, S.A. [Department of Chemistry, Yuvaraj' s College, University of Mysore, Mysore (India)

    2009-09-18

    Rheumatoid arthritis (RA) is a chronic inflammatory, angiogenic disease. Inflamed synovitis is a hallmark of RA which is hypoxic in nature. Vascular endothelial growth factor (VEGF), one of the key regulators of angiogenesis, is overexpressed in the pathogenesis of RA. VEGF expression is regulated by hypoxia-inducible factor-1{alpha} (HIF-1{alpha}), a master regulator of homeostasis which plays a pivotal role in hypoxia-induced angiogenesis. In this study we show that synthetic benzophenone analogue, 2-benzoyl-phenoxy acetamide (BP-1) can act as a novel anti-arthritic agent in an experimental adjuvant induced arthritis (AIA) rat model by targeting VEGF and HIF-1{alpha}. BP-1 administered hypoxic endothelial cells and arthritic animals clearly showed down regulation of VEGF expression. Further, BP-1 inhibits nuclear translocation of HIF-1{alpha}, which in turn suppresses transcription of the VEGF gene. These results suggest a further possible clinical application of the BP-1 derivative as an anti-arthritic agent in association with conventional chemotherapeutic agents.

  2. Deletions induced by gamma rays in the genome of Escherichia coli

    International Nuclear Information System (INIS)

    An Escherichia coli lysogen was constructed with a lambda phage bearing a lacZ gene surrounded by about 100 x 103 base-pairs of dispensable DNA. The lacZ mutants induced by gamma rays in this lysogen were more than 10% large deletions, ranging in size from 0.6 x 10-3 to 70 x 103 base-pairs. These deletions were centered, not on lacZ, but on a ColE1 origin of DNA replication located 1.2 x 103 bases downstream from lacZ, suggesting that this origin of replication was involved in the process by which deletions were formed. In agreement with this hypothesis, a lysogen of the same phage without the ColE1 origin showed a very much lower percentage of radiation-induced deletions, as did a second lysogen of a lambda phage without any known plasmid origin of replication. Indirect evidence is presented for radiation-induced deletions centered on the lambda origin of DNA replication in a lysogen. (author)

  3. Epstein-Barr virus latent membrane protein-1 (LMP-1) 30-bp deletion and Xho I-loss is associated with type III nasopharyngeal carcinoma in Malaysia

    OpenAIRE

    See Hui; Yap Yoke; Yip Wai; Seow Heng

    2008-01-01

    Abstract Background Nasopharyngeal carcinoma (NPC) is a human epithelial tumour with high prevalence amongst Chinese in Southern China and South East Asia and is associated with the Epstein-Barr virus (EBV). The viral genome harbours an oncogene, namely, the latent membrane protein 1 (LMP1) gene and known variants such as the 30-bp deletion and loss of XhoI restriction site have been found. Less is known about the relationship between these variants and the population characteristics and hist...

  4. CacyBP/SIP inhibits Doxourbicin-induced apoptosis of glioma cells due to activation of ERK1/2.

    Science.gov (United States)

    Tang, Yuan; Zhan, Wenjian; Cao, Tong; Tang, Tianjin; Gao, Yong; Qiu, Zhichao; Fu, Chunling; Qian, Fengyuan; Yu, Rutong; Shi, Hengliang

    2016-03-01

    Calcyclin-binding protein or Siah-1-interacting protein (CacyBP/SIP) was previously reported to promote the proliferation of glioma cells. However, the effect of CacyBP/SIP on apoptosis of glioma is poorly understood. Here, our study shows that CacyBP/SIP plays a role in inhibiting doxorubicin (DOX) induced apoptosis of glioma cells U251 and U87. Overexpression of CacyBP/SIP obviously suppressed the DOX-induced cell apoptosis. On the contrary, silencing of CacyBP/SIP significantly promoted it. Further investigation indicated that inhibition of apoptosis by CacyBP/SIP was relevant to its nuclear translocation in response to the DOX treatment. Importantly, we found that the level of p-ERK1/2 in nuclei was related to the nuclear accumulation of CacyBP/SIP. Finally, the role of CacyBP/SIP was confirmed in vivo in a mouse model with the cell line stably silencing CacyBP/SIP. Taken together, our results suggest that CacyBP/SIP plays an important role in inhibiting apoptosis of glioma cells which might be mediated by ERK1/2 signaling pathway, which will provide some guidance for the treatment of glioma. PMID:26825673

  5. Antibodies with higher bactericidal activity induced by a Neisseria gonorrhoeae Rmp deletion mutant strain.

    Directory of Open Access Journals (Sweden)

    Guocai Li

    Full Text Available Neisseria gonorrhoeae (N. gonorrhoeae outer membrane protein reduction modifiable protein (Rmp has strong immunogenicity. However, anti-Rmp antibodies block rather than preserve the antibacterial effects of protective antibodies, which hampers the development of vaccines for gonococcal infections. We herein constructed an Rmp deletion mutant strain of N. gonorrhoeae by gene homologous recombination. The 261-460 nucleotide residues of Rmp gene amplified from N. gonorrhoeae WHO-A strain were replaced with a kanamycin-resistant Kan gene amplified from pET-28a. The resultant hybridized DNA was transformed into N. gonorrhoeae WHO-A strain. PCR was used to screen the colonies in which wild-type Rmp gene was replaced with a mutant gene fragment. Western blotting revealed that the Rmp deletion mutant strain did not express Rmp protein. Rmp deletion did not alter the morphological and Gram staining properties of the mutant strain that grew slightly more slowly than the wild-type one. Rmp gene mutated stably throughout 25 generations of passage. Antibody-mediated complement-dependent cytotoxicity assay indicated that the antibodies induced by the mutant strain had evidently higher bactericidal activities than those induced by the wild-type strain. Further modification of the Rmp deletion mutant strain is still required in the development of novel live attenuated vaccines for gonorrhea by Opa genes deletion or screening of phenotypic variant strains that do not express Opa proteins.

  6. Genomics meets induced mutations in citrus: identification of deleted genes through comparative genomic hybridization

    International Nuclear Information System (INIS)

    We report on the use of genomic approaches to identify pivotal genes in induced citrus mutants. Citrus is the most economically important fruit crop in the world while Spain is the first fresh citrus producer. The survival of the Citrus industry is critically dependent on genetically superior cultivars but improvements in fruit quality traits through traditional techniques are extremely difficult due to the unusual combination of biological characteristics of citrus. Genomic science, however, holds promise of improvements in breeding. In this work, we reported the successful identification of genes included in hemizygous deletions induced by fast neutron irradiation on Citrus clementina. Microarray-based CGH was used to identify underrepresented genes in a citrus mutant that shows color break delay. Subsequent confirmation of gene doses through quantitative PCR and comparison of best hits of putative deleted citrus genes against annotated genomes from other eudicots, specially poplar, enabled the prediction that these genes were clustered into a 700 kb fragment. The availability of Citrus BAC end sequences helped to draw a partial physical map of the deletion. Furthermore, gene content and order in the deleted segment was established by PCR location of gene hits on the physical map. Finally, a lower chlorophyll a/b ratio was found in green tissues from the mutant, an observation that can be related to the hemizygous deletion of a ClpC-like gene, coding a putative subunit of a multifunctional protease complex located into the chloroplast. Analysis of gene content and order inside this Citrus deletion led to the conclusion that microsynteny and local gene colinearity with Populus trichocarpa were higher than with the phylogenetically closer Arabidopsis thaliana genome. In conclusion, a combined strategy including genomics tools and induced citrus mutations has been proved to be a successful approach to identify genes with major roles in citrus fruit development

  7. Genomics Meets Induced Mutations in Citrus: Identification of Deleted Genes Through Comparative Genomic Hybridization

    International Nuclear Information System (INIS)

    We report on the use of genomic approaches to identify pivotal genes in induced citrus mutants. Citrus is the most economically important fruit crop in the world and Spain is the first fresh citrus producer. The survival of the citrus industry is critically dependent on genetically superior cultivars but improvements in fruit quality traits through traditional techniques are extremely difficult due to the unusual combination of biological characteristics of citrus. Genomic science, however, holds promise of improvements in breeding. In this work, we reported the successful identification of genes included in hemizygous deletions induced by fast neutron irradiation on Citrus clementina. Microarray-based CGH was used to identify underrepresented genes in a citrus mutant that shows color break delay. Subsequent confirmation of gene doses through quantitative PCR and comparison of best hits of putative deleted citrus genes against annotated genomes from other eudicots, specially poplar, enabled the prediction that these genes were clustered into a 700 kb fragment. The availability of Citrus BAC end sequences helped to draw a partial physical map of the deletion. Furthermore, gene content and order in the deleted segment was established by PCR location of gene hits on the physical map. Finally, a lower chlorophyll a/b ratio was found in green tissues from the mutant, an observation that can be related to the hemizygous deletion of a ClpC-like gene, coding a putative subunit of a multifunctional protease complex located into the chloroplast. Analysis of gene content and order inside this Citrus deletion led to the conclusion that microsynteny and local gene colinearity with Populus trichocarpa were higher than with the phylogenetically closer Arabidopsis thaliana genome. In conclusion, a combined strategy including genomics tools and induced citrus mutations has been proved to be a successful approach to identify genes with major roles in citrus fruit development

  8. Mitochondrial DNA deletion and aging induced by low dose rate of radiation in mice

    International Nuclear Information System (INIS)

    Mitochondrial DNA (mtDNA) is a closed circular DNA molecule and more than 100 copies are present in a cell. Deletion mutation of mtDNA accumulates with aging and can be a suitable marker for estimating biological effects on radiation-induced mutation in mice. The mice life span study in the Institute for Environmental Sciences suggests that low dose rate of radiation might accelerate aging in mice prolongly irradiated by 137Cs γ-rays (20 mGy/day for 400 days). To know the relationships between low dose rate irradiation, aging and mutation, we observed deletion mutations of mtDNA from mice irradiated by 137Cs γ-rays (20 mGy/day) for different dates. The real-time fluorescence PCR method was sensitive enough to determine the relative amount of deletion in several tissues. Age-dependent accumulations of deletion mutations were observed in aged mice (250-700 days). However, a significant increase of deletion mutation related to accumulated dose was not detected in 137Cs γ-ray irradiated mice for 4-12 Gy. These data suggest that the effect of the low dose rate irradiation on mtDNA is within a background level. (author)

  9. Mitochondrial DNA deletion and impairment of mitochondrial biogenesis by reactive oxygen species in ionizing radiation-induced premature senescence

    International Nuclear Information System (INIS)

    The aim of this study was to determine whether an increase of ROS level in cellular senescence induced by IR could mediate mtDNA deletion via impairment of mitochondria biogenesis in IMR-90 human lung fibroblast cells. Our results showed that IR induced cellular senescence, intracellular ROS, and mtDNA deletion, and in particular, suppressed the expression of mitochondrial biogenesis genes (NRF-1, TFAM). Furthermore, these IR-induced events were abolished using a potent antioxidant, NAC, which suggests that ROS is a key cause of mtDNA deletion in IR-induced cellular senescence, and that the alteration of mitochondrial biogenesis may mediate these processes

  10. Mitochondrial DNA deletion and impairment of mitochondrial biogenesis by reactive oxygen species in ionizing radiation-induced premature senescence

    Energy Technology Data Exchange (ETDEWEB)

    Eom, Hyeon Soo; Jung, U Hee; Jo, Sung Kee [Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of)

    2011-10-15

    The aim of this study was to determine whether an increase of ROS level in cellular senescence induced by IR could mediate mtDNA deletion via impairment of mitochondria biogenesis in IMR-90 human lung fibroblast cells. Our results showed that IR induced cellular senescence, intracellular ROS, and mtDNA deletion, and in particular, suppressed the expression of mitochondrial biogenesis genes (NRF-1, TFAM). Furthermore, these IR-induced events were abolished using a potent antioxidant, NAC, which suggests that ROS is a key cause of mtDNA deletion in IR-induced cellular senescence, and that the alteration of mitochondrial biogenesis may mediate these processes

  11. Molecular analysis and comparison of radiation-induced large deletions of the HPRT locus in primary human skin fibroblasts

    Science.gov (United States)

    Yamada, Y.; Park, M. S.; Okinaka, R. T.; Chen, D. J.

    1996-01-01

    Genetic alterations in gamma-ray- and alpha-particle-induced HPRT mutants were examined by multiplex polymerase chain reaction (PCR) analysis. A total of 39-63% of gamma-ray-induced and 31-57% of alpha-particle-induced mutants had partial or total deletions of the HPRT gene. The proportion of these deletion events was dependent on radiation dose, and at the resolution limits employed there were no significant differences between the spectra induced by equitoxic doses of alpha particles (0.2-0.4 Gy) and gamma rays (3 Gy). The molecular nature of the deletions was analyzed by the use of sequence tagged site (STS) primers and PCR amplification as a "probe" for specific regions of the human X chromosome within the Xq26 region. These STSs were closely linked and spanned regions approximately 1.7 Mbp from the telomeric side and 1.7 Mbp from the centromeric side of the HPRT gene. These markers include: DXS53, 299R, DXS79, yH3L, 3/19, PR1, PR25, H2, yH3R, 1/44, 1/67, 1/1, DXS86, D8C6, DXS10 and DXS144. STS analyses indicated that the maximum size of total deletions in radiation-induced HPRT mutants can be greater than 2.7 Mbp and deletion size appears to be dependent on radiation dose. There were no apparent differences in the sizes of the deletions induced by alpha particles or gamma rays. On the other hand, deletions containing portions of the HPRT gene were observed to be 800 kbp or less, and the pattern of the partial deletion induced by alpha particles appeared to be different from that induced by gamma rays.

  12. Deletion of circadian gene Per1 alleviates acute ethanol-induced hepatotoxicity in mice

    International Nuclear Information System (INIS)

    The severity of ethanol-induced liver injury is associated with oxidative stress and lipid accumulation in the liver. Core circadian clock is known to mediate antioxidative enzyme activity and lipid metabolism. However, the link between circadian clock and ethanol-induced hepatotoxicity remains unclear. Here we showed that extents of acute ethanol-induced liver injury and steatosis in mice exhibit circadian variations consistent with hepatic expression of Period (Per) genes. Mice lacking clock gene Per1 displayed less susceptible to ethanol-induced liver injury, as evidenced by lower serum transaminase activity and less severe histopathological changes. Ethanol-induced lipid peroxidation was alleviated in Per1−/− mice. However, Per1 deletion had no effect on antioxidants depletion caused by ethanol administration. Ethanol-induced triglycerides (TG) accumulation in the serum and liver was significantly decreased in Per1−/− mice compared with that in wild-type (WT) mice. Analysis of gene expression in the liver revealed peroxisome proliferators activated receptor-gamma (PPARγ) and its target genes related to TG synthesis are remarkably down-regulated in Per1−/− mice. HepG2 cells were treated with ethanol at 150 mM for 3 days. Per1 overexpression augmented lipid accumulation after treatment with ethanol in HepG2 cells, but had no effect on ethanol-induced oxidative stress. Expression of genes related to lipogenesis, including PPARγ and its target genes, was up-regulated in cells overexpressing Per1. In conclusion, these results indicated that circadian rhythms of ethanol-induced hepatotoxicity are controlled by clock gene Per1, and deletion of Per1 protected mice from ethanol-induced liver injury by decreasing hepatic lipid accumulation

  13. Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.

    Science.gov (United States)

    Kager, Leo; Minkov, Milen; Zeitlhofer, Petra; Fahrner, Bernhard; Ratzinger, Franz; Boztug, Kaan; Dossenbach-Glaninger, Astrid; Haas, Oskar A

    2016-05-01

    We report two children with severe chronic hemolytic anemia, the cause of which was difficult to establish because of transfusion dependency. Reduced erythrocyte pyruvate kinase activity in their asymptomatic parents provided the diagnostic clues for mutation screening of the PKLR gene and revealed that one child was a compound heterozygote of a novel paternally derived 5-bp deletion in the promoter region (c.-88_-84delTCTCT) and a maternally derived missense mutation in exon nine (c.1174G>A; p.Ala392Thr). The second child was a compound heterozygote of two novel missense mutations, namely a paternally derived exon ten c.1381G>A (p.Glu461Lys) and a maternally derived exon seven c.907-908delCC (p.Pro303GlyfsX12) variant. PMID:26728349

  14. Increased 4E-BP1 Expression Protects against Diet-Induced Obesity and Insulin Resistance in Male Mice.

    Science.gov (United States)

    Tsai, Shih-Yin; Rodriguez, Ariana A; Dastidar, Somasish G; Del Greco, Elizabeth; Carr, Kaili Lia; Sitzmann, Joanna M; Academia, Emmeline C; Viray, Christian Michael; Martinez, Lizbeth Leon; Kaplowitz, Brian Stephen; Ashe, Travis D; La Spada, Albert R; Kennedy, Brian K

    2016-08-16

    Obesity is a major risk factor driving the global type II diabetes pandemic. However, the molecular factors linking obesity to disease remain to be elucidated. Gender differences are apparent in humans and are also observed in murine models. Here, we link these differences to expression of eukaryotic translation initiation factor 4E binding protein 1 (4E-BP1), which, upon HFD feeding, becomes significantly reduced in the skeletal muscle and adipose tissue of male but not female mice. Strikingly, restoring 4E-BP1 expression in male mice protects them against HFD-induced obesity and insulin resistance. Male 4E-BP1 transgenic mice also exhibit reduced white adipose tissue accumulation accompanied by decreased circulating levels of leptin and triglycerides. Importantly, transgenic 4E-BP1 male mice are also protected from aging-induced obesity and metabolic decline on a normal diet. These results demonstrate that 4E-BP1 is a gender-specific suppressor of obesity that regulates insulin sensitivity and energy metabolism. PMID:27498874

  15. Immunogenic response induced by wzm and wzt gene deletion mutants from Brucella abortus S19.

    Science.gov (United States)

    Wang, Xiu-Ran; Yan, Guang-Mou; Zhang, Rui; Lang, Xu-Long; Yang, Yan-Ling; Li, Xiao-Yan; Chen, Si; Qian, Jing; Wang, Xing-Long

    2014-02-01

    Brucellosis is an infectious disease affecting humans and animals worldwide. Effective methods of control include inducing immunity in animals by vaccination and elimination. Brucella abortus S19 is one of the popular vaccines for control of cattle brucellosis, as it has low virulence. In this paper, allelic exchange plasmids of wzm and wzt genes were constructed and partially knocked out to evaluate the effects on the induction of immunity to Brucella abortus S19 mutants. Cytokine secretion in vitro, INF-γ induction in vivo and antibody dynamics were evaluated. These data suggested that the immunity-eliciting ability of the wzm and wzt gene deletion mutants was similar, although reduced compared with the S19 strain. The results demonstrated that the wzt gene may be more important in the regulation of the induction of immunity than the wzm gene. PMID:24247358

  16. A novel mouse model of intrahepatic cholangiocarcinoma induced by liver-specific Kras activation and Pten deletion.

    Science.gov (United States)

    Ikenoue, Tsuneo; Terakado, Yumi; Nakagawa, Hayato; Hikiba, Yohko; Fujii, Tomoaki; Matsubara, Daisuke; Noguchi, Rei; Zhu, Chi; Yamamoto, Keisuke; Kudo, Yotaro; Asaoka, Yoshinari; Yamaguchi, Kiyoshi; Ijichi, Hideaki; Tateishi, Keisuke; Fukushima, Noriyoshi; Maeda, Shin; Koike, Kazuhiko; Furukawa, Yoichi

    2016-01-01

    Intrahepatic cholangiocarcinoma (ICC) is an aggressive malignancy with poor prognosis and its incidence is increasing worldwide. Recently, several types of cells have been considered as the origin of ICC, namely cholangiocytes, liver progenitor cells, and hepatocytes. Here, we have established a novel mouse model of ICC by liver-specific Kras activation and Pten deletion. An activating mutation of Kras in combination with deletion of Pten was introduced in embryonic hepatic bipotential progenitor cells (so-called hepatoblasts) and mature hepatocytes using the Cre-loxP system. As a result, liver-specific Kras activation and homozygous Pten deletion cooperated to induce ICCs exclusively. In contrast, Kras activation in combination with heterozygous Pten deletion induced both ICCs and HCCs, whereas Kras activation alone resulted in HCCs but not ICCs. Furthermore, a cell-lineage visualization system using tamoxifen-inducible Cre-loxP demonstrated that the ICCs did not originate from hepatocytes but from cholangiocytes. Our data suggest that mice carrying liver-specific Kras activation in combination with homozygous Pten deletion should be useful for the investigation of therapeutic strategies for human ICC. PMID:27032374

  17. SH3BP2 gain-of-function mutation exacerbates inflammation and bone loss in a murine collagen-induced arthritis model.

    Directory of Open Access Journals (Sweden)

    Tomoyuki Mukai

    Full Text Available OBJECTIVE: SH3BP2 is a signaling adapter protein which regulates immune and skeletal systems. Gain-of-function mutations in SH3BP2 cause cherubism, characterized by jawbone destruction. This study was aimed to examine the role of SH3BP2 in inflammatory bone loss using a collagen-induced arthritis (CIA model. METHODS: CIA was induced in wild-type (Sh3bp2(+/+ and heterozygous P416R SH3BP2 cherubism mutant knock-in (Sh3bp2(KI/+ mice, an SH3BP2 gain-of-function model. Severity of the arthritis was determined by assessing the paw swelling and histological analyses of the joints. Micro-CT analysis was used to determine the levels of bone loss. Inflammation and osteoclastogenesis in the joints were evaluated by quantitating the gene expression of inflammatory cytokines and osteoclast markers. Furthermore, involvement of the T- and B-cell responses was determined by draining lymph node cell culture and measurement of the serum anti-mouse type II collagen antibody levels, respectively. Finally, roles of the SH3BP2 mutation in macrophage activation and osteoclastogenesis were determined by evaluating the TNF-α production levels and osteoclast formation in bone marrow-derived M-CSF-dependent macrophage (BMM cultures. RESULTS: Sh3bp2(KI/+ mice exhibited more severe inflammation and bone loss, accompanying an increased number of osteoclasts. The mRNA levels for TNF-α and osteoclast marker genes were higher in the joints of Sh3bp2(KI/+ mice. Lymph node cell culture showed that lymphocyte proliferation and IFN-γ and IL-17 production were comparable between Sh3bp2(+/+ and Sh3bp2(KI/+ cells. Serum anti-type II collagen antibody levels were comparable between Sh3bp2(+/+ and Sh3bp2(KI/+ mice. In vitro experiments showed that TNF-α production in Sh3bp2(KI/+ BMMs is elevated compared with Sh3bp2(+/+ BMMs and that RANKL-induced osteoclastogenesis is enhanced in Sh3bp2(KI/+ BMMs associated with increased NFATc1 nuclear localization. CONCLUSION: Gain-of-function of

  18. PEP-1-FK506BP12 inhibits matrix metalloproteinase expression in human articular chondrocytes and in a mouse carrageenan-induced arthritis model.

    Science.gov (United States)

    Hwang, Hyun Sook; Park, In Young; Kim, Dae Won; Choi, Soo Young; Jung, Young Ok; Kim, Hyun Ah

    2015-07-01

    The 12 kDa FK506-binding protein (FK506BP12), an immunosuppressor, modulates T cell activation via calcineurin inhibition. In this study, we investigated the ability of PEP-1-FK506BP12, consisting of FK506BP12 fused to the protein transduction domain PEP-1 peptide, to suppress catabolic responses in primary human chondrocytes and in a mouse carrageenan-induced paw arthritis model. Western blotting and immunofluorescence analysis showed that PEP-1-FK506BP12 efficiently penetrated chondrocytes and cartilage explants. In interleukin-1β (IL-1β)-treated chondrocytes, PEP-1-FK506BP12 significantly suppressed the expression of catabolic enzymes, including matrix metalloproteinases (MMPs)-1, -3, and -13 in addition to cyclooxygenase-2, at both the mRNA and protein levels, whereas FK506BP12 alone did not. In addition, PEP-1-FK506BP12 decreased IL-1β-induced phosphorylation of the mitogen-activated protein kinase (MAPK) complex (p38, JNK, and ERK) and the inhibitor kappa B alpha. In the mouse model of carrageenan-induced paw arthritis, PEP-1-FK506BP12 suppressed both carrageenan-induced MMP-13 production and paw inflammation. PEP-1-FK506BP12 may have therapeutic potential in the alleviation of OA progression. PMID:25887750

  19. Antigenic deletion and malignant enhancement induced in lymphoma cells by passage through X-irradiated hosts

    International Nuclear Information System (INIS)

    Studies are reported in which lymphoma cells were induced to delete strong virus-associated membrane antigens, and as a result considerably increase their capacity for metastasis, by X-irradiation of the hosts. The studies involved injecting rats at birth with leukaemia virus cells. The cells expressed strong murine leukaemia virus surface antigens and were consistently rejected when transplanted into normal adult syngeneic rats. When the rats were given 300 to 350 R total body X-irradiation, however, lymphoma cells transplanted within 24 hours subcutaneously or intraperitoneally grow progressively at the site of the graft, occasionally spread to distant sites and eventually cause death of the hosts. Examined under the electron microscope the transplanted lymphoma cells appeared devoid of both mature and immature virus particles. The loss of surface antigens was consistently accompanied by increased malignancy of the lymphoma cells. Explanations for the results are offered. Implications for radiotherapy in man are discussed, and it is suggested that whilst such treatment might be effective in the control of local recurrences, it could possibly induce an increase in the number of distant metastases. Some fluorescence studies of the cells are also described. (U.K.)

  20. Consequences of PAI-1 specific deletion in endothelium on radiation-induced intestinal damage

    International Nuclear Information System (INIS)

    Radiation-induced injury to healthy tissues is a real public health problem, since they are one of the most limiting factors that restrict efficiency of radiation therapy. This problematic is also part of the French Cancer Plan 2014-2017, and involves clinical research. Concepts surrounding the development of radiation-induced damage have gradually evolved into a contemporary and integrated view of the pathogenesis, involving all compartments of target tissue. Among them, endothelium seems to be central in the sequence of interrelated events that lead to the development of radiation-induced damage, although there are rare concrete elements that support this concept. By using new transgenic mouse models, this PhD project provides a direct demonstration of an endothelium-dependent continuum in evolution of radiation-induced intestinal damage. Indeed, changes in the endothelial phenotype through targeted deletion of the gene SERPINE1, chosen because of its key role in the development of radiation enteritis, influences various parameters of the development of the disease. Thus, lack of PAI-1 secretion by endothelial cells significantly improves survival of the animals, and limits severity of early and late tissue damage after a localized small bowel irradiation. Furthermore, these mice partially KO for PAI-1 showed a decrease in the number of apoptotic intestinal stem cells in the hours following irradiation, a decrease in the macrophages infiltrate density one week after irradiation, and a change in the polarization of macrophages throughout the pathophysiological process. In an effort to protect healthy tissues from radiation therapy side effects, without hindering the cancer treatment, PAI-1 seems to be an obvious therapeutic target. Conceptually, this work represents the direct demonstration of the link between endothelium phenotype and radiation enteritis pathogenesis. (author)

  1. Induction of Mitochondrial DNA Deletion by Ionizing Radiation in Human Lung Fibroblast IMR-90 Cells

    Energy Technology Data Exchange (ETDEWEB)

    Eom, Hyeon Soo; Jung, U Hee; Park, Hae Ran; Jo, Sung Kee [Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of)

    2009-06-15

    Mitochondrial DNA (mtDNA) deletion is a well-known marker for oxidative stress and aging and also contributes to their unfavorable effects in cultured cells and animal tissues. This study was conducted to investigate the effect of ionizing radiation (IR) on mtDNA deletion and the involvement of reactive oxygen species (ROS) in this process in human lung fibroblast (IMR-90) cells. Young IMR-90 cells at population doubling (PD) 39 were irradiated with {sup 137}Cs -rays and the intracellular ROS level was determined by 2',7'-dichlorofluorescein diacetate (DCFH-DA) and mtDNA common deletion (4977bp) was detected by nested PCR. Old cells at PD 55 and H{sub 2}O{sub 2}-treated young cells were compared as the positive control. IR increased the intracellular ROS level and mtDNA 4977 bp deletion in IMR-90 cells dose-dependently. The increases of ROS level and mtDNA deletion were also observed in old cells and H{sub 2}O{sub 2}-treated young cells. To confirm the increased ROS level is essential for mtDNA deletion in irradiated cells, the effects of N-acetylcysteine (NAC) on IRinduced ROS and mtDNA deletion were examined. 5 mM NAC significantly attenuated the IR-induced ROS increase and mtDNA deletion. These results suggest that IR induces the mtDNA deletion and this process is mediated by ROS in IMR-90 cells.

  2. Identification of a 467 bp Promoter of Maize Phosphatidylinositol Synthase Gene (ZmPIS) Which Confers High-Level Gene Expression and Salinity or Osmotic Stress Inducibility in Transgenic Tobacco

    Science.gov (United States)

    Zhang, Hongli; Hou, Jiajia; Jiang, Pingping; Qi, Shoumei; Xu, Changzheng; He, Qiuxia; Ding, Zhaohua; Wang, Zhiwu; Zhang, Kewei; Li, Kunpeng

    2016-01-01

    Salinity and drought often affect plant growth and crop yields. Cloning and identification of salinity and drought stress inducible promoters is of great significance for their use in the genetic improvement of crop resistance. Previous studies showed that phosphatidylinositol synthase is involved in plant salinity and drought stress responses but its promoter has not been characterized by far. In the study, the promoter (pZmPIS, 1834 bp upstream region of the translation initiation site) was isolated from maize genome. To functionally validate the promoter, eight 5′ deletion fragments of pZmPIS in different lengths were fused to GUS to produce pZmPIS::GUS constructs and transformed into tobacco, namely PZ1–PZ8. The transcription activity and expression pattern obviously changed when the promoter was truncated. Previous studies have demonstrated that NaCl and PEG treatments are usually used to simulate salinity and drought treatments. The results showed that PZ1–PZ7 can respond well upon NaCl and PEG treatments, while PZ8 not. PZ7 (467 bp) displayed the highest transcription activity in all tissues of transgenic tobacco amongst 5′ deleted promoter fragments, which corresponds to about 20 and 50% of CaMV35S under normal and NaCl or PEG treatment, respectively. This implied that PZ7 is the core region of pZmPIS which confers high-level gene expression and NaCl or PEG inducible nature. The 113 bp segment between PZ7 and PZ8 (-467 to -355 bp) was considered as the key sequence for ZmPIS responding to NaCl or PEG treatment. GUS transient assay in tobacco leaves showed that this segment was sufficient for the NaCl or PEG stress response. Bioinformatic analysis revealed that the 113 bp sequence may contain new elements that are crucial for ZmPIS response to NaCl or PEG stress. These results promote our understanding on transcriptional regulation mechanism of ZmPIS and the characterized PZ7 promoter fragment would be an ideal candidate for the overexpression of

  3. Enhancement of DNA vaccine-induced immune responses by a 72-bp element from SV40 enhancer

    Institute of Scientific and Technical Information of China (English)

    LI Hai-shan; XU Jian-qing; HONG Kun-xue; SHAO Yi-ming; LIU Yong; LI Ding-feng; ZHANG Ran-ran; TANG Hai-li; ZHANG Yu-wei; HUANG Wei; LIU Ying; PENG Hong

    2007-01-01

    Background Although DNA vaccine is considered as the next generation of vaccine, most DNA vaccine candidates are still suffering from the relatively weak immunogenicity despite the increased dosage of plasmid DNA administered. In order to enhance the immune responses elicited by a codon-optimized HIV gag DNA vaccine, a modified plasmid vector pDRVI1.0 and a booster immunization with replicating Tiantan vaccinia (RTV) strain expressing the same gene were employed.Methods Vector pDRVI1.0 was constructed through inserting the 72-bp element from the SV40 enhancer, which was reported promoting nuclear transport of plasmid DNA, to the upstream of cytomegalovirus enhancer/promoter region of the plasmid vector pVR1012. Gene expression levels from expression plasmids based on pDRVI1.0 and pVR1012 were tested. Humoral and cellular immune responses induced by DNA vaccine alone or DNA prime-RTV boost regimen were determined in mice.Results It was shown that the 72-bp element significantly enhanced the gene expression level in non-dividing cells.gag-specific humoral and cellular immune responses induced by DNA vaccination were both significantly improved, while the Th1/Th2 balance was not obviously affected by the 72-bp element. RTV boosting further significantly enhanced DNA vaccine-primed antibody and T cell responses in a Th1-biased manner.Conclusions The 72-bp SV40 enhancer element should be included in the DNA vaccine vector and RTV strain is a very efficient live vector for boosting immunization.

  4. PCR detection of retinoblastoma gene deletions in radiation-induced mouse lung adenocarcinomas

    International Nuclear Information System (INIS)

    From 1971--1986, Argonne National Laboratory conducted a series of large-scale studies of tumor incidence in 40,000 BCF1 mice irradiated with 60Co γ-rays or JANUS fission-spectrum neutrons. Polymerase chain reaction (PCR) technique was used to detect deletions in the mouse retinoblastoma (mRb) gene. Six mRb gene exon fragments were amplified in a 40-cycle, 3-temperature PCR protocol. Absence of any of these fragments on a Southern blot indicated a deletion of that portion of the mRb gene. Tumors chosen for analysis were lung adenocarcinomas that were judged to be the cause of death in post-mortem analyses. Spontaneous tumors as well as those from irradiated mice were analyzed for mRb deletions. In all normal mouse tissues studies all six mRb exon fragments were present on Southern blots. Tumors in six neutron-irradiated mice also had no mRb deletions. However, 1 of 6 tumors from γ-irradiated mice and 6 of 18 spontaneous tumors from unirradiated mice showed a deletion in one or both mRb alleles. All deletions detected were in the 5' region of the mRb gene

  5. PCR detection of retinoblastoma gene deletions in radiation-induced mouse lung adenocarcinomas

    International Nuclear Information System (INIS)

    From 1971 to 1986, Argonne National Laboratory conducted a series of large-scale studies of tumor incidence in 40,000 BCF1 mice irradiated with 60Co γ rays or JANUS fission-spectrum neutrons; normal and tumor tissues from mice in these studies were preserved in paraffin blocks. A polymerase chain reaction (PCR) technique has been developed to detect deletions in the mouse retinoblastoma (mRb) gene in the paraffin-embedded tissues. Microtomed sections were used as the DNA source in PCR reaction mixtures. Six mRb gene exon fragments were amplified in a 40-cycle, 3-temperature PCR protocol. The absence of any of these fragments (relative to control PCR products) on a Southern blot indicated a deletion of that portion of the mRb gene. The tumors chosen for analysis were lung adenocarcinomas that were judged to be the cause of death in post-mortem analyses. Spontaneous tumors as well as those from irradiated mice (569 cGy of 60Co γ rays or 60 cGy of JANUS neutrons, doses that have been found to have approximately equal biological effectiveness in the BCF, mouse) were analyzed for mRb deletions. In all normal mouse tissues studies, all six mRb exon fragments were present on Southem blots. Tumors in six neutron-irradiated mice also had no mRb deletions. However, I of 6 tumors from γ-irradiated mice and 6 of 18 spontaneous tumors from unirradiated mice had a deletion in one or both mRb alleles. All deletions detected were in the 5' region of the mRb gene

  6. Spontaneous and mutagen-induced deletions: mechanistic studies in Salmonella tester strain TA102.

    OpenAIRE

    Levin, D E; Marnett, L J; Ames, B N

    1984-01-01

    Salmonella tester strain TA102 carries the hisG428 ochre mutation on the multicopy plasmid pAQ1. DNA sequence analysis of 45 spontaneous revertants of hisG428 on the chromosome in the presence of pKM101 (strain TA103) indicates that hisG428 revertants fall into three major categories: (i) small, in-frame deletions (3 or 6 base pairs) that remove part or all of the ochre triplet; (ii) base substitution mutations at the ochre site; (iii) extragenic ochre suppressors. Deletion revertants are ide...

  7. Time-effect Relationship of Mitochondrial DNA 4977bp Deletion in Human Peripheral Blood Cell after X Ray Irradiation%X射线致人外周血线粒体DNA 4977bp缺失的时效关系研究

    Institute of Scientific and Technical Information of China (English)

    王金合; 王平; 姜峰; 韩林; 王喜爱; 吕玉民

    2011-01-01

    To investigate the time-effect of mitochondfial DNA 4977bp deletion in human peripheral blood cells exposed to X ray, human peripheral whole blood samples were collected from two healthy individuals, and exposed to X rays with dose from 0 to 10 Gy. The genomic DNAs were isolated from the whole-blood samples, and the levels of mtDNA 4977bp deletion and copy number of total mtDNA in the DNA samples were detected by Real-time PCR after irradiation at 2, 12, 24, 48, and 72 h, respectively. The results showed that the copy number of mtDNA 4977bp deletion and total mtDNA, and the rates of mtDNA 4977bp deletion increase with incubation time with dose at 5 Gy after irradiation. Moreover, they increased with dose from 0 to 10 Gy after irradiation at 24 h and 72 h, respectively. The results suggested that the levels of mtDNA 4977bp deletion and the copy number of total mtDNA in human peripheral blood cells exposed to X ray were accumulated with incubation time and dose increase, respectively.%采集2名25岁健康男性外周血进行不同剂量(0~10 Gy)单次X射线照射,于照后取不同时间点(2、12、24、48和72 h)培养的细胞提取基因组DNA,利用实时定量PCR检测不同时间点线粒体DNA(mtDNA)4977bp缺失情况,探讨X射线致人外周血mtDNA 4977bp缺失的时间效应关系。结果表明,受照剂量为5 Gy时,随着照射后培养时间的增加,mtDNA 4977bp缺失拷贝数、mtDNA总拷贝数和mtDNA 4977bp缺失率均有增加趋势。培养时间为24 h和72 h时,在0~10 Gy剂量范围内mtDNA 4977bp缺失拷贝数、mtDNA总拷贝数和mtDNA 4977bp缺失率随着受照剂量的增加而增加。提示X射线诱发的mtDNA 4977bp缺失和mtDNA总拷贝数具有时间和剂量累积性。

  8. The deletion of residues 268-292 of E1 impairs the ability of HCV envelope proteins to induce pore formation.

    Science.gov (United States)

    Lombana, Laura; Ortega-Atienza, Sara; Gómez-Gutiérrez, Julián; Yélamos, Belén; Peterson, Darrell L; Gavilanes, Francisco

    2016-06-01

    We have obtained a chimeric protein containing the ectodomains of hepatitis C virus (HCV) envelope proteins but lacking the region 268-292 of E1. All its structural properties are coincident with those of the corresponding full length chimera. The deleted and entire chimeras were compared in terms of their membrane destabilizing properties. No differences were found in their ability to induce vesicle aggregation and lipid mixing but the deleted chimera showed a reduced capacity to promote leakage. The role of the deletion was also studied by obtaining HCV pseudoparticles (HCVpp). Both E1 and E2, and also the E1 deleted mutant, were incorporated into HCVpp to a similar level. However, HCVpp containing the E1 deleted protein are almost unable to infect Huh7 cells. These results point to the involvement of the region 268-292 in the formation of pores in the membrane necessary for the complete fusion of the membranes. PMID:26945847

  9. Adipocyte-Specific Deletion of Manganese Superoxide Dismutase Protects From Diet-Induced Obesity Through Increased Mitochondrial Uncoupling and Biogenesis.

    Science.gov (United States)

    Han, Yong Hwan; Buffolo, Márcio; Pires, Karla Maria; Pei, Shaobo; Scherer, Philipp E; Boudina, Sihem

    2016-09-01

    Obesity and insulin resistance are associated with oxidative stress (OS). The causal role of adipose OS in the pathogenesis of these conditions is unknown. To address this issue, we generated mice with an adipocyte-selective deletion of manganese superoxide dismutase (MnSOD). When fed a high-fat diet (HFD), the AdSod2 knockout (KO) mice exhibited less adiposity, reduced adipocyte hypertrophy, and decreased circulating leptin. The resistance to diet-induced adiposity was the result of an increased metabolic rate and energy expenditure. Furthermore, palmitate oxidation was elevated in the white adipose tissue (WAT) and brown adipose tissue of AdSod2 KO mice fed an HFD, and the expression of key fatty acid oxidation genes was increased. To gain mechanistic insight into the increased fat oxidation in HFD-fed AdSod2 KO mice, we quantified the mitochondrial function and mitochondrial content in WAT and found that MnSOD deletion increased mitochondrial oxygen consumption and induced mitochondrial biogenesis. This effect was preserved in cultured adipocytes from AdSod2 KO mice in vitro. As expected from the enhanced fat oxidation, circulating levels of free fatty acids were reduced in the HFD-fed AdSod2 KO mice. Finally, HFD-fed AdSod2 KO mice were protected from hepatic steatosis, adipose tissue inflammation, and glucose and insulin intolerance. Taken together, these results demonstrate that MnSOD deletion in adipocytes triggered an adaptive stress response that activated mitochondrial biogenesis and enhanced mitochondrial fatty acid oxidation, thereby preventing diet-induced obesity and insulin resistance. PMID:27284109

  10. Neutrophil-specific deletion of the CARD9 gene expression regulator suppresses autoantibody-induced inflammation in vivo.

    Science.gov (United States)

    Németh, Tamás; Futosi, Krisztina; Sitaru, Cassian; Ruland, Jürgen; Mócsai, Attila

    2016-01-01

    Neutrophils are terminally differentiated cells with limited transcriptional activity. The biological function of their gene expression changes is poorly understood. CARD9 regulates transcription during antifungal immunity but its role in sterile inflammation is unclear. Here we show that neutrophil CARD9 mediates pro-inflammatory chemokine/cytokine but not lipid mediator release during non-infectious inflammation. Genetic deficiency of CARD9 suppresses autoantibody-induced arthritis and dermatitis in mice. Neutrophil-specific deletion of CARD9 is sufficient to induce that phenotype. Card9(-/-) neutrophils show defective immune complex-induced gene expression changes and pro-inflammatory chemokine/cytokine release but normal LTB4 production and other short-term responses. In vivo deletion of CARD9 reduces tissue levels of pro-inflammatory chemokines and cytokines but not LTB4. The CARD9-mediated signalling pathway involves Src-family kinases, Syk, PLCγ2, Bcl10/Malt1 and NFκB. Collectively, CARD9-mediated gene expression changes within neutrophils play important roles during non-infectious inflammation in vivo and CARD9 acts as a divergence point between chemokine/cytokine and lipid mediator release. PMID:27032818

  11. CFTR Deletion in Mouse Testis Induces VDAC1 Mediated Inflammatory Pathway Critical for Spermatogenesis

    Science.gov (United States)

    Huijuan, Liao; Jiang, Xie; Ming, Yang; Huaqin, Sun; Wenming, Xu

    2016-01-01

    Cystic fibrosis is the most common genetic disease among Caucasians and affects tissues including lung, pancreas and reproductive tracts. It has been shown that Endoplasmic Reticulum (ER) stress and heat shock response are two major deregulated functional modules related to CFTR dysfunction. To identify the impact of CFTR deletion during spermatogenesis, we examined the expression of spermiogenesis-related genes in the testis of CFTR mutant mice (CF mice). We confirmed expression changes of MSY2, a germ cell specific RNA binding protein, resulting from deletion of CFTR in testis. Furthermore, real time PCR and Western blot results showed that an inflammatory response was activated in CF mice testis, as reflected by the altered expression of cytokines. We demonstrate for the first time that expression of MSY2 is decreased in CF mice. Our results suggest that CFTR deletion in testis influences inflammatory responses and these features are likely to be due to the unique environment of the seminiferous tubule during the spermatogenesis process. The current study also suggests avenues to understand the pathophysiology of CFTR during spermatogenesis and provides targets for the possible treatment of CFTR-related infertility. PMID:27483469

  12. CFTR Deletion in Mouse Testis Induces VDAC1 Mediated Inflammatory Pathway Critical for Spermatogenesis.

    Science.gov (United States)

    Yan, Chen; Lang, Qin; Huijuan, Liao; Jiang, Xie; Ming, Yang; Huaqin, Sun; Wenming, Xu

    2016-01-01

    Cystic fibrosis is the most common genetic disease among Caucasians and affects tissues including lung, pancreas and reproductive tracts. It has been shown that Endoplasmic Reticulum (ER) stress and heat shock response are two major deregulated functional modules related to CFTR dysfunction. To identify the impact of CFTR deletion during spermatogenesis, we examined the expression of spermiogenesis-related genes in the testis of CFTR mutant mice (CF mice). We confirmed expression changes of MSY2, a germ cell specific RNA binding protein, resulting from deletion of CFTR in testis. Furthermore, real time PCR and Western blot results showed that an inflammatory response was activated in CF mice testis, as reflected by the altered expression of cytokines. We demonstrate for the first time that expression of MSY2 is decreased in CF mice. Our results suggest that CFTR deletion in testis influences inflammatory responses and these features are likely to be due to the unique environment of the seminiferous tubule during the spermatogenesis process. The current study also suggests avenues to understand the pathophysiology of CFTR during spermatogenesis and provides targets for the possible treatment of CFTR-related infertility. PMID:27483469

  13. Vascular smooth muscle-specific deletion of the leptin receptor attenuates leptin-induced alterations in vascular relaxation.

    Science.gov (United States)

    Ryan, Michael J; Coleman, T Taylor; Sasser, Jennifer M; Pittman, Katarina M; Hankins, Michael W; Stec, David E

    2016-05-15

    Obesity is a risk factor for cardiovascular disease and is associated with increased plasma levels of the adipose-derived hormone leptin. Vascular smooth muscle cells (VSMC) express leptin receptors (LepR); however, their physiological role is unclear. We hypothesized that leptin, at levels to mimic morbid obesity, impairs vascular relaxation. To test this, we used control and VSM-LepR knockout mice (VSM-LepR KO) created with a tamoxifen-inducible specific Cre recombinase to delete the LepR gene in VSMC. Control (10-12 wk old) and VSM-LepR KO (10-12 wk old) mice were fed a diet containing tamoxifen (50 mg/kg) for 6 wk, after which vascular reactivity was studied in isolated carotid arteries using an organ chamber bath. Vessels were incubated with leptin (100 ng/ml) or vehicle (0.1 mM Tris·HCl) for 30 min. Leptin treatment resulted in significant impairment of vessel relaxation to the endothelial-specific agonist acetylcholine (ACh). When these experiments were repeated in the presence of the superoxide scavenger tempol, relaxation responses to ACh were restored. VSM-LepR deletion resulted in a significant attenuation of leptin-mediated impaired ACh-induced relaxation. These data show that leptin directly impairs vascular relaxation via a VSM-LepR-mediated mechanism, suggesting a potential pathogenic role for leptin to increase cardiovascular risk during obesity. PMID:26936780

  14. Deletion mutations of bacteriophage

    International Nuclear Information System (INIS)

    Resolution of mutation mechanism with structural changes of DNA was discussed through the studies using bacteriophage lambda. One of deletion mutations inductions of phage lambda is the irradiation of ultraviolet ray. It is not clear if the inductions are caused by errors in reparation of ultraviolet-induced damage or by the activation of int gene. Because the effective site of int gene lies within the regions unnecessary for existing, it is considered that int gene is connected to deletion mutations induction. A certain system using prophage complementarity enables to detect deletion mutations at essential hereditary sites and to solve the relations of deletion mutations with other recombination system, DNA reproduction and repairment system. Duplication and multiplication of hereditary elements were discussed. If lambda deletion mutations of the system, which can control recombination, reproduction and repairment of added DNA, are constructed, mutations mechanism with great changes of DNA structure can be solved by phage lambda. (Ichikawa, K.)

  15. EXPRESSION CHANGES OF NUCLEAR FACTOR κBp65 AND CYCLIND1 IN 4-NITROQUINOLINE 1-OXIDE-INDUCED RAT TONGUE CARCINOGENESIS

    Institute of Scientific and Technical Information of China (English)

    GE shu-yun; Zhou zeng-tong

    2006-01-01

    Objective To observe the different expression of NF-κBp65 and cyclinD1 during oral carcinogenesis and to analyze the relationship between the abnormal expression of NF-κBp65 , cyclinD1, and the occurrence and development of oral carcinogenesis. Methods The streptavidin-biotin-peroxidase (S-P) immunohistochemical method was employed to detect the expression of NF-κBp65 and cyclinD1 protein in 38 rat tongue carcinogenesis specimens induced by 4-nitroquinoline 1-oxide. Results With the progress of tongue carcinogenesis, the expression of NF-κBp65, cyclinD1 was up-regulated. In normal, mild epithelial dysplasia, moderate epithelial dysplasia,severe epithelial dysplasia, carcinoma in situ and squamous cell carcinoma ( SCC) , the positive rate of NF-κBp65was 20%, 20%, 50%, 62.5%, 50% and 83.33%, respectively. There was significant differences between normal and SCC ( P<0.05); while the level of cyclinD1 was 20%, 60%, 62.5%, 87. 5%, 100% and 83.33%, respectively. There was significant differences between normal and severe epithelial dysplasia, carcinoma in situ and SCC ( P<0.01 or P<0.05). There was a significant correlation between the increased levels of NF-κBp65, cyclinD1 and histopathological grade. The positive expression of NF-κBp65 was also associated with cyclinD1 in SCC (r=0.7353, P<0.05). Conclusion The up-expression of NF-κBp65 and cyclinD1 protein may be correlated to the occurrence and the development of oral carcinoma; activated NF-κB plays an important role in the overexpression of cyclinD1. Furthermore, NF-κB and cyclinD1 may be the useful biomarker of oral precancerous lesion.

  16. Interleukin-22 binding protein (IL-22BP) is constitutively expressed by a subset of conventional dendritic cells and is strongly induced by retinoic acid.

    Science.gov (United States)

    Martin, J C J; Bériou, G; Heslan, M; Chauvin, C; Utriainen, L; Aumeunier, A; Scott, C L; Mowat, A; Cerovic, V; Houston, S A; Leboeuf, M; Hubert, F X; Hémont, C; Merad, M; Milling, S; Josien, R

    2014-01-01

    Interleukin-22 (IL-22) is mainly produced at barrier surfaces by T cells and innate lymphoid cells and is crucial to maintain epithelial integrity. However, dysregulated IL-22 action leads to deleterious inflammation and is involved in diseases such as psoriasis, intestinal inflammation, and cancer. IL-22 binding protein (IL-22BP) is a soluble inhibitory IL-22 receptor and may represent a crucial regulator of IL-22. We show both in rats and mice that, in the steady state, the main source of IL-22BP is constituted by a subset of conventional dendritic cells (DCs) in lymphoid and non-lymphoid tissues. In mouse intestine, IL-22BP was specifically expressed in lamina propria CD103(+)CD11b(+) DC. In humans, IL-22BP was expressed in immature monocyte-derived DC and strongly induced by retinoic acid but dramatically reduced upon maturation. Our data suggest that a subset of immature DCs may actively participate in the regulation of IL-22 activity in the gut by producing high levels of IL-22BP. PMID:23653115

  17. Deletion of Metallothionein Exacerbates Intermittent Hypoxia-Induced Oxidative and Inflammatory Injury in Aorta

    Directory of Open Access Journals (Sweden)

    Shanshan Zhou

    2014-01-01

    Full Text Available The present study was to explore the effect of metallothionein (MT on intermittent hypoxia (IH induced aortic pathogenic changes. Markers of oxidative damages, inflammation, and vascular remodeling were observed by immunohistochemical staining after 3 days and 1, 3, and 8 weeks after IH exposures. Endogenous MT was induced after 3 days of IH but was significantly decreased after 8 weeks of IH. Compared with the wild-type mice, MT knock-out mice exhibited earlier and more severe pathogenic changes of oxidative damages, inflammatory responses, and cellular apoptosis, as indicated by the significant accumulation of collagen, increased levels of connective tissue growth factor, transforming growth factor β1, tumor necrosis factor-alpha, vascular cell adhesion molecule 1,3-nitrotyrosine, and 4-hydroxy-2-nonenal in the aorta. These findings suggested that chronic IH may lead to aortic damages characterized by oxidative stress and inflammation, and MT may play a pivotal role in the above pathogenesis process.

  18. Hematopoietic Cell–Restricted Deletion of CD36 Reduces High-Fat Diet–Induced Macrophage Infiltration and Improves Insulin Signaling in Adipose Tissue

    OpenAIRE

    Nicholls, Hayley T.; Kowalski, Greg; Kennedy, David J.; Risis, Steve; Zaffino, Lee A.; Watson, Nadine; Kanellakis, Peter; Watt, Matthew J.; Bobik, Alex; Bonen, Arend; Febbraio, Maria; Lancaster, Graeme I.; Febbraio, Mark A.

    2011-01-01

    OBJECTIVE The fatty acid translocase and scavenger receptor CD36 is important in the recognition and uptake of lipids. Accordingly, we hypothesized that it plays a role in saturated fatty acid–induced macrophage lipid accumulation and proinflammatory activation. RESEARCH DESIGN AND METHODS In vitro, the effect of CD36 inhibition and deletion in lipid-induced macrophage inflammation was assessed using the putative CD36 inhibitor, sulfosuccinimidyl oleate (SSO), and bone marrow–derived macropha...

  19. Myeloperoxidase Deletion Prevents High-Fat Diet–Induced Obesity and Insulin Resistance

    OpenAIRE

    Wang, Qilong; Xie, Zhonglin; Zhang, Wencheng; Zhou, Jun; Wu, Yue; Zhang, Miao; Zhu, Huaiping; Zou, Ming-Hui

    2014-01-01

    Activation of myeloperoxidase (MPO), a heme protein primarily expressed in granules of neutrophils, is associated with the development of obesity. However, whether MPO mediates high-fat diet (HFD)-induced obesity and obesity-associated insulin resistance remains to be determined. Here, we found that consumption of an HFD resulted in neutrophil infiltration and enhanced MPO expression and activity in epididymal white adipose tissue, with an increase in body weight gain and impaired insulin sig...

  20. On the mechanism of retrovirus-induced avian lymphoid leukosis: deletion and integration of the proviruses.

    OpenAIRE

    Y. K. Fung; Fadly, A M; Crittenden, L B; Kung, H J

    1981-01-01

    There is considerable evidence that infection by avian lymphoid leukosis viruses can led to tumor development in the target organ of the host. The mechanism by which virus-induced oncogenic transformation occurs, however, is not clearly understood. As a first step toward deciphering this process, we have characterized the proviruses of the lymphoid leukosis viruses in DNAs extracted from the leukotic and metastatic tumors by using restriction enzyme digestion and filter hybridization analysis...

  1. Deletion of the Men1 Gene Prevents Streptozotocin-Induced Hyperglycemia in Mice

    Directory of Open Access Journals (Sweden)

    Yuqing Yang

    2010-01-01

    Full Text Available Diabetes ultimately results from an inadequate number of functional beta cells in the islets of Langerhans. Enhancing proliferation of functional endogenous beta cells to treat diabetes remains underexplored. Here, we report that excision of the Men1 gene, whose loss-of-function mutation leads to inherited multiple endocrine neoplasia type 1 (MEN1, rendered resistant to streptozotocin-induced hyperglycemia in a tamoxifen-inducible and temporally controlled Men1 excision mouse model as well as in a tissue-specific Men1 excision mouse model. Men1 excision prevented mice from streptozotocin-induced hyperglycemia mainly through increasing the number of functional beta cells. BrdU incorporation by beta cells, islet size, and circulating insulin levels were significantly increased in Men1-excised mice. Membrane localization of glucose transporter 2 was largely preserved in Men1-excised beta cells, but not in Men1-expressing beta cells. Our findings suggest that repression of menin, a protein encoded by the Men1 gene, might be a valuable means to maintain or increase the number of functional endogenous beta cells to prevent or ameliorate diabetes.

  2. Zinc transporter 3 (ZnT3) gene deletion reduces spinal cord white matter damage and motor deficits in a murine MOG-induced multiple sclerosis model.

    Science.gov (United States)

    Choi, Bo Young; Kim, In Yeol; Kim, Jin Hee; Kho, A Ra; Lee, Song Hee; Lee, Bo Eun; Sohn, Min; Koh, Jae-Young; Suh, Sang Won

    2016-10-01

    The present study aimed to evaluate the role of zinc transporter 3 (ZnT3) on multiple sclerosis (MS) pathogenesis. Experimental autoimmune encephalomyelitis (EAE), a disease model of multiple sclerosis, was induced by immunization with myelin oligodendrocyte glycoprotein (MOG35-55) in female mice. Three weeks after the initial immunization, demyelination, immune cell infiltration and blood brain barrier (BBB) disruption in the spinal cord were analyzed. Clinical signs of EAE first appeared on day 11 and reached a peak level on day 19 after the initial immunization. ZnT3 gene deletion profoundly reduced the daily clinical score of EAE. The ZnT3 gene deletion-mediated inhibition of the clinical course of EAE was accompanied by suppression of inflammation and demyelination in the spinal cord. The motor deficit accompanying neuropathological changes associated with EAE were mild in ZnT3 gene deletion mice. This reduction in motor deficit was accompanied by coincident reductions in demyelination and infiltration of encephalitogenic immune cells including CD4+ T cells, CD8+ T cells, CD20+ B cells and F4/80+ microglia in the spinal cord. These results demonstrate that ZnT3 gene deletion inhibits the clinical features and neuropathological changes associated with EAE. ZnT3 gene deletion also remarkably inhibited formation of EAE-associated aberrant synaptic zinc patches, matrix metalloproteinases-9 (MMP-9) activation and BBB disruption. Therefore, amelioration of EAE-induced clinical and neuropathological changes by ZnT3 gene deletion suggests that vesicular zinc may be involved in several steps of MS pathogenesis. PMID:27370228

  3. HLA-G基因14bp插入/缺失多态性与不明原因复发性流产患者相关性的病例对照研究%Association between HLA-G 14-bp Insertion/Deletion Polymorphism and Women with Recurrent Spontaneous Abortions

    Institute of Scientific and Technical Information of China (English)

    张惠湘; 朱永生

    2012-01-01

    目的 探讨HLA-G基因3'非翻译区14bp插入/缺失多态性与不明原因复发性流产患者的相关性.方法 选择343名不明原因复发性流产患者,按照不同流产次数分为流产2次组(n=152),流产3次组(n=132),流产4次及以上组(n=59);268名正常妊娠妇女作为健康对照组.采用聚合酶链反应(PCR)及8%非变性聚丙烯酰胺凝胶电泳分离技术检测HLA-G基因14bp插入/缺失多态性位点在不明原因复发性流产患者及正常妊娠组中的基因型频率分布.结果 HLA-G基因14bp插入/缺失多态性位点的基因型频率分布在流产4次及以上组与正常妊娠组差异有统计学意义(χ2=6.941,P=0.031),流产4次及以上组+14bp等位基因频率分布显著高于正常妊娠组(χ2=4.956,P=0.026,OR=1.573,95%CI:1.054~2.349).结论 H LA-G 14 bp 缺失多态性在维持正常的妊娠中可能有重要作用.%Objective To investigate the association between HLA - G gene 14 - bp insertion/deletion polymorphism in 3 UTR and recurrent spontaneous abortions. Methods In this study, a total of 611 Chinese women were genotyped for the + 14 - bp/14 - bp polymorphism, including 343 who had recurrent spontaneous abortions (two miscarriages; 152, three miscarriages; 132, four or more miscarriages; 59) , 268 women with normal fertility as controls. Results To our knowledge, this is the first report that Significant difference was observed in the distribution of + 14 - bp/ + 14 - bp genotype between controls and the recurrent abortion group with four or more abortions ( X2 = 6. 941, P - 0. 031 ) . The + 14 - bp homozygote sequence was more prominent among those with recurrent spontaneous abortions (four or more recurrent miscarriages) in contrast to fertile control women (X2 = 4.956, P=0.026, OR =1.573, 95%CI: 1.054 ~2. 349). Conclusion A 14 - bp insertion/deletion polymorphism in exon 8 has a possible role in HLA ?G expression in certain cases of recurrent spontaneous abortions. However, additional

  4. PHO13 deletion-induced transcriptional activation prevents sedoheptulose accumulation during xylose metabolism in engineered Saccharomyces cerevisiae.

    Science.gov (United States)

    Xu, Haiqing; Kim, Sooah; Sorek, Hagit; Lee, Youngsuk; Jeong, Deokyeol; Kim, Jungyeon; Oh, Eun Joong; Yun, Eun Ju; Wemmer, David E; Kim, Kyoung Heon; Kim, Soo Rin; Jin, Yong-Su

    2016-03-01

    The deletion of PHO13 (pho13Δ) in Saccharomyces cerevisiae, encoding a phosphatase enzyme of unknown specificity, results in the transcriptional activation of genes related to the pentose phosphate pathway (PPP) such as TAL1 encoding transaldolase. It has been also reported that the pho13Δ mutant of S. cerevisiae expressing a heterologous xylose pathway can metabolize xylose efficiently compared to its parental strain. However, the interaction between the pho13Δ-induced transcriptional changes and the phenotypes of xylose fermentation was not understood. Thus we investigated the global metabolic changes in response to pho13Δ when cells were exponentially growing on xylose. Among the 134 intracellular metabolites that we identified, the 98% reduction of sedoheptulose was found to be the most significant change in the pho13Δ mutant as compared to its parental strain. Because sedoheptulose-7-phosphate (S7P), a substrate of transaldolase, reduced significantly in the pho13Δ mutant as well, we hypothesized that limited transaldolase activity in the parental strain might cause dephosphorylation of S7P, leading to carbon loss and inefficient xylose metabolism. Mutants overexpressing TAL1 at different degrees were constructed, and their TAL1 expression levels and xylose consumption rates were positively correlated. Moreover, as TAL1 expression levels increased, intracellular sedoheptulose concentration dropped significantly. Therefore, we concluded that TAL1 upregulation, preventing the accumulation of sedoheptulose, is the most critical mechanism for the improved xylose metabolism by the pho13Δ mutant of engineered S. cerevisiae. PMID:26724864

  5. Alpha Lipoic Acid Modulated High Glucose-Induced Rat Mesangial Cell Dysfunction via mTOR/p70S6K/4E-BP1 Pathway

    OpenAIRE

    Chuan Lv; Can Wu; Yue-hong Zhou; Ying Shao; Guan Wang; Qiu-yue Wang

    2014-01-01

    The aim of this study was to investigate whether alpha lipoic acid (LA) regulates high glucose-induced mesangial cell proliferation and extracellular matrix production via mTOR/p70S6K/4E-BP1 signaling. The effect of LA on high glucose-induced cell proliferation, fibronectin (FN), and collagen type I (collagen-I) expression and its mechanisms were examined in cultured rat mesangial cells by methylthiazol tetrazolium (MTT) assay, flow cytometry, ELISA assay, and western blot, respectively. LA a...

  6. Female mice target deleted for the neuromedin B receptor have partial resistance to diet-induced obesity.

    Science.gov (United States)

    Paula, Gabriela Silva Monteiro; Souza, Luana Lopes; Cabanelas, Adriana; Bloise, Flavia Fonseca; Mello-Coelho, Valéria; Wada, Etsuko; Ortiga-Carvalho, Tania Maria; Oliveira, Karen Jesus; Pazos-Moura, Carmen Cabanelas

    2010-05-01

    Previous studies have proposed a role for neuromedin B (NB), a bombesin-like peptide, in the control of body weight homeostasis. However, the nature of this role is unclear. The actions of NB are mediated preferentially by NB-preferring receptors (NBRs). Here we examined the consequences of targeted deletion of NBRs in female mice on body weight homeostasis in mice fed a normolipid diet (ND) or a high-fat diet (HFD) for 13 weeks. Body weight and food ingestion of neuromedin B receptor knockout (NBR-KO) mice fed a normolipid diet showed no difference in relation to wild-type (WT). However, the high-fat diet induced an 8.9- and 4.8-fold increase in body weight of WT and NBR-KO, respectively, compared to their controls maintained with a normolipid diet, even though the mice ingested the same amount of calories, regardless of genotype. Comparing mice fed the high-fat diet, NBR-KO mice accumulated approximately 45% less fat depot mass than WT, exhibited a lower percentage of fat in their carcasses (19.2 vs. 31.3%), and their adipocytes were less hypertrophied. Serum leptin and leptin mRNA in inguinal and perigonadal fat were lower in HFD NBR-KO than HFD WT, and serum adiponectin was similar among HFD groups and unaltered in comparison to ND-fed mice. HFD-fed WT mice developed glucose intolerance but not the HFD-fed NBR-KO mice, although they had similar glycaemia and insulinaemia. NBR-KO and WT mice on the normolipid diet showed no differences in any parameters, except for a trend to lower insulin levels. Therefore, disruption of the neuromedin B receptor pathway did not change body weight homeostasis in female mice fed a normolipid diet; however, it did result in partial resistance to diet-induced obesity. PMID:20211980

  7. The Angiotensin Converting Enzyme Insertion/Deletion Polymorphism Modifies Exercise-Induced Muscle Metabolism.

    Directory of Open Access Journals (Sweden)

    David Vaughan

    Full Text Available A silencer region (I-allele within intron 16 of the gene for the regulator of vascular perfusion, angiotensin-converting enzyme (ACE, is implicated in phenotypic variation of aerobic fitness and the development of type II diabetes. We hypothesised that the reportedly lower aerobic performance in non-carriers compared to carriers of the ACE I-allele, i.e. ACE-DD vs. ACE-ID/ACE-II genotype, is associated with alterations in activity-induced glucose metabolism and capillarisation in exercise muscle.Fifty-three, not-specifically trained Caucasian men carried out a one-legged bout of cycling exercise to exhaustion and/or participated in a marathon, the aim being to identify and validate genotype effects on exercise metabolism. Respiratory exchange ratio (RER, serum glucose and lipid concentration, glycogen, and metabolite content in vastus lateralis muscle based on ultra-performance lipid chromatography-mass spectrometry (UPLC-MS, were assessed before and after the cycling exercise in thirty-three participants. Serum metabolites were measured in forty subjects that completed the marathon. Genotype effects were assessed post-hoc.Cycling exercise reduced muscle glycogen concentration and this tended to be affected by the ACE I-allele (p = 0.09. The ACE-DD genotype showed a lower maximal RER and a selective increase in serum glucose concentration after exercise compared to ACE-ID and ACE-II genotypes (+24% vs. +2% and -3%, respectively. Major metabolites of mitochondrial metabolism (i.e. phosphoenol pyruvate, nicotinamide adenine dinucleotide phosphate, L-Aspartic acid, glutathione were selectively affected in vastus lateralis muscle by exercise in the ACE-DD genotype. Capillary-to-fibre ratio was 24%-lower in the ACE-DD genotype. Individuals with the ACE-DD genotype demonstrated an abnormal increase in serum glucose to 7.7 mM after the marathon.The observations imply a genetically modulated role for ACE in control of glucose import and oxidation in

  8. Distribution of radiation-induced G1 exchange and terminal deletion breakpoints in Chinese hamster chromosomes as detected by G banding

    International Nuclear Information System (INIS)

    A total of 255 chromosomal aberrations induced by X-rays in G1 phase of the cell cycle were scored in 600 G-banded metaphases prepared from Chinese hamster female cells. On the basis of a detailed analysis of these aberrations a total of 441 chromosomal breakpoints were mapped to the individual Chinese hamster chromosomes and their bands. More breakpoints were mapped to G-light (80.5%) than to G-dark (19.5%) bands. These results indicate that radiation-induced exchange and terminal deletion breakpoints, as observed in the first postirradiation metaphase, have different patterns of distribution in Chinese hamster chromosomes. Clustering of terminal deletions in the long arms of X chromosomes, which are entirely occupied by heterochromatin, suggests that chromosomal repair mechanisms responsible for rejoining of chromosomal breaks are less effective in heterochromatic than in other genomic regions. (author)

  9. Diet-induced Lethality Due to Deletion of the Hdac3 Gene in Heart and Skeletal Muscle*♦

    OpenAIRE

    Sun, Zheng; Singh, Nikhil; Mullican, Shannon E.; Everett, Logan J.; Li LI; Yuan, Lijun; Liu, Xi; Epstein, Jonathan A.; Lazar, Mitchell A.

    2011-01-01

    Many human diseases result from the influence of the nutritional environment on gene expression. The environment interacts with the genome by altering the epigenome, including covalent modification of nucleosomal histones. Here, we report a novel and dramatic influence of diet on the phenotype and survival of mice in which histone deacetylase 3 (Hdac3) is deleted postnatally in heart and skeletal muscle. Although embryonic deletion of myocardial Hdac3 causes major cardiomyopathy that reduces ...

  10. A novel mouse model of intrahepatic cholangiocarcinoma induced by liver-specific Kras activation and Pten deletion

    OpenAIRE

    Tsuneo Ikenoue; Yumi Terakado; Hayato Nakagawa; Yohko Hikiba; Tomoaki Fujii; Daisuke Matsubara; Rei Noguchi; Chi Zhu; Keisuke Yamamoto; Yotaro Kudo; Yoshinari Asaoka; Kiyoshi Yamaguchi; Hideaki Ijichi; Keisuke Tateishi; Noriyoshi Fukushima

    2016-01-01

    Intrahepatic cholangiocarcinoma (ICC) is an aggressive malignancy with poor prognosis and its incidence is increasing worldwide. Recently, several types of cells have been considered as the origin of ICC, namely cholangiocytes, liver progenitor cells, and hepatocytes. Here, we have established a novel mouse model of ICC by liver-specific Kras activation and Pten deletion. An activating mutation of Kras in combination with deletion of Pten was introduced in embryonic hepatic bipotential progen...

  11. Adult-Onset Deletion of β-Catenin in (10kb)Dmp1-Expressing Cells Prevents Intermittent PTH-Induced Bone Gain.

    Science.gov (United States)

    Kedlaya, Rajendra; Kang, Kyung Shin; Hong, Jung Min; Bettagere, Vidya; Lim, Kyung-Eun; Horan, Daniel; Divieti-Pajevic, Paola; Robling, Alexander G

    2016-08-01

    β-Catenin (βcat) is a major downstream signaling node in canonical Wingless-related integration site (Wnt) signaling pathway, and its activity is crucial for canonical Wnt signal transduction. Wnt signaling has recently been implicated in the osteo-anabolic response to PTH, a potent calcium-regulating factor. We investigated whether βcat is essential for the anabolic action of intermittent PTH by generating male mice with adult-onset deletion of βcat in a subpopulation of bone cells (osteocytes and late-stage osteoblasts), treating them with an anabolic regimen of PTH, and measuring the skeletal responses. Male (10kb)Dmp1-CreERt2 transgenic mice that also harbored floxed loss-of-function βcat alleles (βcat(f/f)) were induced for Cre activity using tamoxifen, then injected daily with human PTH 1-34 (30 μg/kg) or vehicle for 5 weeks. Mice in which βcat was deleted showed either total lack of bone mineral density (BMD) gain, or BMD loss, and did not respond to PTH treatment. However, bone mass measurements in the trabecular compartment of the femur and spine revealed PTH-induced bone gain whether βcat was deleted or not. PTH-stimulated increases in periosteal and cancellous bone formation rates were not impaired by βcat deletion, but resorption markers and cortical porosity were significantly increased in induced mice, particularly induced mice treated with PTH. These results suggest that βcat is required for net-positive BMD effects of PTH therapy but that the anabolic effects per se of PTH treatment might not require osteocytic/osteoblastic βcat. PMID:27253995

  12. Deletion of the N-terminus of IKKγ induces apoptosis in keratinocytes and impairs the AKT/PTEN signaling pathway

    International Nuclear Information System (INIS)

    The regulatory subunit IKKγ/NEMO is crucial for skin development and function and although devoid of kinase activity, loss of IKKγ function completely abolishes the activation of NF-κB by all pro-inflammatory cytokines. To inhibit the IκB kinase (IKK) complex in keratinocytes, we have used a dominant negative approach by generating stable transfectants of an N-terminal deletion of IKKγ (IKKγ-DN97) that uncouples formation of the IKK complex. Expression of this mutant in PB keratinocytes (PB-IKKγ-DN97) delayed growth kinetics, caused morphological changes and dramatically augmented apoptosis even in the absence of pro-apoptotic stimuli, as determined by cell morphology, TUNEL and caspase-3 cleavage. Moreover, in PB-IKKγ-DN97 cells, TNF-α and IL-1 treatment failed to induce degradation of IκBα, phosphorylation of p65 on Ser 536 and nuclear translocation which, consequently, reduced κB-binding activity. In PB-IKKγ-DN97 cells, accumulation of IκBα correlated with a downregulation of AKT activity and an increase of PTEN protein levels whereas pro-apoptotic p53 target genes Bax and Puma were upregulated. These effects were most likely mediated through IKK since coexpression of the wild-type form of IKKγ in keratinocytes partially reversed apoptosis and reduced PTEN expression. Thus, our data suggest a negative cross-talk mechanism involving PTEN and NF-κB, critical for the anti-apoptotic role of NF-κB in keratinocytes

  13. The vaccine properties of a Brazilian BHV-1 strain with an induced deletion of the gE gene

    International Nuclear Information System (INIS)

    Full text: A Brazilian strain of bovine herpesvirus type 1.2a with a deletion of the glycoprotein E (gE) gene was constructed (BHV-1.2a gE-). The deletion was introduced by the co-transfection of a deletion fragment containing the 5' and 3' gE flanking regions and genomic DNA of wild type BHV-1 into bovine cells. Identification of gE deletion mutant was performed by immunoperoxidase staining with an anti-gE monoclonal antibody. This gE deletion mutant was plaque purified and further examined by restriction endonuclesase digestion and Southern blot hybridization. The in vitro growth characteristics of this gE negative mutant were studied and compared with the parental strain. The results of these experiments showed that the BHV- 1.2a gE- had a significantly reduced cell-to-cell spread in three different host cells. No statistical differences were observed when single step growth curves or penetration assays were performed using the BHV-1.2a gE- and the parental strain. In vivo studies were performed to access the potential of this virus as a vaccinal strain. In order to examine its attenuation for cattle, four BHV-1 seronegative calves were inoculated intranasally with 2x105,3 TCID50 of the gE- virus. Another group of three calves was inoculated with 5x107 TCID50 of the wild type virus. Two other calves were kept as uninfected controls. The deletion mutant had a markedly reduced virulence for calves, whereas the wild type virus was highly virulent. The gE- virus was excreted to lower titres and for a shorter period of time than the wild type virus. Calves immunized with gE- virus and challenged with 5x107 TCID50 of wild type virus developed very mild clinical disease with a significant reduction in virus excretion. These results show that the gE- recombinant was attenuated and capable of prevent clinical disease upon challenge. The gE- deletion mutant is a promising candidate virus for a differential vaccine to BHV-1 infections. (author)

  14. Golgi membrane fission requires the CtBP1-S/BARS-induced activation of lysophosphatidic acid acyltransferase δ.

    Science.gov (United States)

    Pagliuso, Alessandro; Valente, Carmen; Giordano, Lucia Laura; Filograna, Angela; Li, Guiling; Circolo, Diego; Turacchio, Gabriele; Marzullo, Vincenzo Manuel; Mandrich, Luigi; Zhukovsky, Mikhail A; Formiggini, Fabio; Polishchuk, Roman S; Corda, Daniela; Luini, Alberto

    2016-01-01

    Membrane fission is an essential cellular process by which continuous membranes split into separate parts. We have previously identified CtBP1-S/BARS (BARS) as a key component of a protein complex that is required for fission of several endomembranes, including basolateral post-Golgi transport carriers. Assembly of this complex occurs at the Golgi apparatus, where BARS binds to the phosphoinositide kinase PI4KIIIβ through a 14-3-3γ dimer, as well as to ARF and the PKD and PAK kinases. We now report that, when incorporated into this complex, BARS binds to and activates a trans-Golgi lysophosphatidic acid (LPA) acyltransferase type δ (LPAATδ) that converts LPA into phosphatidic acid (PA); and that this reaction is essential for fission of the carriers. LPA and PA have unique biophysical properties, and their interconversion might facilitate the fission process either directly or indirectly (via recruitment of proteins that bind to PA, including BARS itself). PMID:27401954

  15. 儿童淋巴瘤患者EBV-LMP1基因C末端30bp缺失突变检测%Detection of C-terminal 30 bp-deletion mutation of latent membrane protein 1 of EBV in childhood lymphoma

    Institute of Scientific and Technical Information of China (English)

    谢正德; 周春菊; 王琳; 申昆玲

    2008-01-01

    Objective To study C-terminal 30 bp-deletion mutation of latent membrane protein 1 of the virus from childhood lymphoma. Methods Nested-PCR was used to amplify C-terminal of EBV-LMP1 from childhood lymphoma and non-lymphoma associated to EBV,including Hodgkin lymphoma (HL),non-Hodgkin lymphoma (NHL)and reactive hyperplasia of lymph node (RL). Sequence analysis was performed on the positive PCR product.Results LMP1 with 30 bp deletion in C-terminal was detected in 11/25 HL,3/8 NHL and 5/15 RL cases respectively .There were no significant differences among HL,NHL and RL (P = 0.793 ). Sequence analysis showed that LMP1 detected in this study belongs to the following three subgroups: B95.8,China1 and China2. Conclusion LMP1 with 30 bp deletion in C-terminal widely existed in childhood HL,NHL and RL.There was no correlation between special types of LMP1 and the diseases. There were 3 LMP1 subgroups of EBV in children's lymphoma in the cases studied,including B95.8,Chinal and China 2.%目的 研究儿童淋巴瘤来源的EBV-LMP1基因C末端30 bp缺失突变情况并分析其意义.方法 应用巢式聚合酶链反应技术(Nested-PCR)扩增免疫组化检测EBV-LMP1或原位杂交检测EBV.EBERS阳性的霍奇金淋巴瘤、非霍奇金淋巴瘤和淋巴结反应性增生病理标本中EBV-LMP1基因,并进行序列分析.结果 EBV-LMP1羧基端30 bp缺失的del-LMP1的检出率在霍奇金淋巴瘤、非霍奇金淋巴瘤和淋巴结反应性增生分别为11/25、3/8和5/15,三组间差异无统计学意义(P=0.793,X2=0.463).经序列分析发现,所扩增的EBV-LmP1基因型可分为三个亚型:B95.8、China1和China2.结论 EBV羧基端30 bp缺失的del-LMP1基因型广泛存在EBV阳性的儿童霍奇金淋巴瘤、非霍奇金淋巴瘤和淋巴结反应性增生病例中,与疾病本身没有关系.儿童来源的EBV-LMP1基因型主要可分为B95.8、China1和China2三个亚型.

  16. Characterization of FeDREB1 promoter involved in cold- and drought-inducible expression from common buckwheat (Fagopyrum esculentum).

    Science.gov (United States)

    Fang, Z W; Xu, X Y; Gao, J F; Wang, P K; Liu, Z X; Feng, B L

    2015-01-01

    C-repeat-binding factor (CBF)/dehydration-responsive element (DREB) transcription factors play key roles in plant stress responses. However, little information is available on the regulation of CBF/DREB expression. In this study, we isolated and characterized the FeDREB1 promoter sequence from the common buckwheat accession Xinong 9976. To identify the upstream region of the FeDREB1 gene required for promoter activity, we constructed a series of FeDREB1 promoter deletion derivatives. Each deletion construct was analyzed through Agrobacterium-mediated transient transformation in tobacco leaves treated with 4°C cold or drought stress. Promoter-beta-glucuronidase fusion assays revealed that the pCD1 (-270 bp) deletion in the upstream region of FeDREB1 could activate expression of the GUS gene at 4°C. The pCD1 (-270 bp), pCD2 (-530 bp), and pCD3 (-904 bp) deletion induced low-level GUS expression under drought stress. However, the pCD4 (-1278 bp) deletion clearly activated GUS gene expression. Our results suggest that sections pCD1 (-270 bp) and pCD4 (-1278 bp) in the FeDREB1 gene promoter are new sources of induced promoters for adversity-resistance breeding in plant genetic engineering. PMID:26214481

  17. Genetic Deletion of the Neuronal Glutamate Transporter, EAAC1, Results in Decreased Neuronal Death after Pilocarpine-Induced Status Epilepticus

    OpenAIRE

    Lane, Meredith C.; Jackson, Joshua G.; Krizman, Elizabeth N.; Rothstein, Jeffery D.; Porter, Brenda E.; Robinson, Michael B.

    2013-01-01

    Excitatory amino acid carrier 1 (EAAC1, also called EAAT3) is a Na+-dependent glutamate transporter expressed by both glutamatergic and GABAergic neurons. It provides precursors for the syntheses of glutathione and GABA and contributes to the clearance of synaptically released glutamate. Mice deleted of EAAC1 are more susceptible to neurodegeneration in models of ischemia, Parkinson’s disease, and aging. Antisense knock-down of EAAC1 causes an absence seizure-like phenotype. Additionally, EAA...

  18. Deletion of Protein Tyrosine Phosphatase 1B (PTP1B Enhances Endothelial Cyclooxygenase 2 Expression and Protects Mice from Type 1 Diabetes-Induced Endothelial Dysfunction.

    Directory of Open Access Journals (Sweden)

    David J Herren

    Full Text Available Protein tyrosine phosphatase 1B (PTP1B dephosphorylates receptors tyrosine kinase and acts as a molecular brake on insulin signaling pathway. Conditions of metabolic dysfunction increase PTP1B, when deletion of PTP1B protects against metabolic disorders by increasing insulin signaling. Although vascular insulin signaling contributes to the control of glucose disposal, little is known regarding the direct role of PTP1B in the control of endothelial function. We hypothesized that metabolic dysfunctions increase PTP1B expression in endothelial cells and that PTP1B deletion prevents endothelial dysfunction in situation of diminished insulin secretion. Type I diabetes (T1DM was induced in wild-type (WT and PTP1B-deficient mice (KO with streptozotocin (STZ injection. After 28 days of T1DM, KO mice exhibited a similar reduction in body weight and plasma insulin levels and a comparable increase in glycemia (WT: 384 ± 20 vs. Ko: 432 ± 29 mg/dL, cholesterol and triglycerides, as WT mice. T1DM increased PTP1B expression and impaired endothelial NO-dependent relaxation, in mouse aorta. PTP1B deletion did not affect baseline endothelial function, but preserved endothelium-dependent relaxation, in T1DM mice. NO synthase inhibition with L-NAME abolished endothelial relaxation in control and T1DM WT mice, whereas L-NAME and the cyclooxygenases inhibitor indomethacin were required to abolish endothelium relaxation in T1DM KO mice. PTP1B deletion increased COX-2 expression and PGI2 levels, in mouse aorta and plasma respectively, in T1DM mice. In parallel, simulation of diabetic conditions increased PTP1B expression and knockdown of PTP1B increased COX-2 but not COX-1 expression, in primary human aortic endothelial cells. Taken together these data indicate that deletion of PTP1B protected endothelial function by compensating the reduction in NO bioavailability by increasing COX-2-mediated release of the vasodilator prostanoid PGI2, in T1DM mice.

  19. Nitric Oxide-Dependent Oxidative Stress Induced Mitochondrial DNA Overproliferation and Deletion in the Context of Cancer and Alzheimer Disease

    Directory of Open Access Journals (Sweden)

    Gjumrakch Aliev

    2015-03-01

    Full Text Available Oxidative stress initiates mitochondrial DNA overproliferation and/or deletion of the organ and/or tissues, especially the mitochondrial energy demands, have been implicated in the pathogenesis of several diseases, including Alzheimer disease (AD, tumor growth, and metastasis. The present study has determined if an intimate, i.e. causal, relationship between oxidative stress and mitochondrial damage and/or vascular lesions occurs before the development of human AD, in animal models that mimic human neurodegenerative diseases and human colorectal carcinoid cancer or primary malignant brain cancer. In situ hybridization and ultrastructural analysis of the mitochondria (mitochondria with electron dense matrix, mitochondrial-derived lysosomes showed that mitochondria with the abnormal structures and lipofuscin appear to be features of hippocampal damaged neurons in human AD, aged Tg (+ mice, 2 and 3 vessel occlusion model of the brain hypoperfusion, and malignant primary and metastatic cancer. The abnormal mitochondria appeared to be a permanent feature in all cellular compartments; in situ hybridization analysis with mouse and human mtDNA probes found a large amount of deleted mtDNA in human AD and in all models that mimic human AD (mice, rats etc. hippocampus and cancer tissues compared to aged controls. The majority of these mtDNA deletions were found in mitochondrial-derived lysosomes in regions closely associated with lipofuscin and/or tumor growth regions. In situ hybridization with a chimeric cDNA probe for the 5kb common deletion indicated that the 5kb mtDNA is increased at least 3 and 4 fold respectively in AD and malignant tumor cases as compared to controls. Only hippocampal and cortical vulnerable neurons as well as malignant cancer tissues showed immunopositive staining for RNA oxidation markers visualized by using 8-OHG-staining, NOSs, and all oxidative stress markers. The mitochondrial DNA overproliferation and deletion detected by

  20. Radiation-induced chromosome aberrations in ataxia telangiectasia cells: high frequency of deletions and misrejoining detected by fluorescence in situ hybridization

    Science.gov (United States)

    Kawata, Tetsuya; Ito, Hisao; George, Kerry; Wu, Honglu; Uno, Takashi; Isobe, Kouichi; Cucinotta, Francis A.

    2003-01-01

    The mechanisms underlying the hyper-radiosensitivity of AT cells were investigated by analyzing chromosome aberrations in the G(2) and M phases of the cell cycle using a combination of chemically induced premature chromosome condensation (PCC) and fluorescence in situ hybridization (FISH) with chromosome painting probes. Confluent cultures of normal fibroblast cells (AG1522) and fibroblast cells derived from an individual with AT (GM02052) were exposed to gamma rays and allowed to repair at 37 degrees C for 24 h. At doses that resulted in 10% survival, GM02052 cells were approximately five times more sensitive to gamma rays than AG1522 cells. For a given dose, GM02052 cells contained a much higher frequency of deletions and misrejoining than AG1522 cells. For both cell types, a good correlation was found between the percentage of aberrant cells and cell survival. The average number of color junctions, which represent the frequency of chromosome misrejoining, was also found to correlate well with survival. However, in a similar surviving population of GM02052 and AG1522 cells, induced by 1 Gy and 6 Gy, respectively, AG1522 cells contained four times more color junctions and half as many deletions as GM02052 cells. These results indicate that both repair deficiency and misrepair may be involved in the hyper-radiosensitivity of AT cells.

  1. 鸡胚低分子提取物对D-半乳糖拟衰老小鼠线粒体DNA缺失突变的影响%Effect of low molecular weight substance extracted from chick embryo on mitochondrial DNA deletion in aging mice induced by D-galactose

    Institute of Scientific and Technical Information of China (English)

    陈姝; 何蕴韶; 程刚; 高劲松

    2008-01-01

    Objective To investigate the effect of low molecular weight substance extracted from chick embryo on mitochondrial DNA(mtDNA)deletion in senile mice induced bv D-galactose.Methods Senile mice induced by D-galactose were treated with low molecular weight substance extracted from chick embryo.The deleted fragment of mtDNA was examined by using polymerase chain reaction technique and agarose gel electrophoresis.A relative quantitation of band densities was performed by using densitometry scanning techniques.The deletion was identified by using direct sequencing analysis. Results The 4239 bD mtDNA deletion were present in liver,cerebral cortex and hippocampus tissues in all of the mice.and it was significantly higher in senile model mice than in control mice(all P<0.01).Low molecular weight substance extracted from chick embryo reduced the mtDNA deletion in various tissues in senile model mice(all P<0.05).Deletion was more abundant in liver than in cerebral cortex and hippoeampus. Conclusions The 4239 bp mtDNA deletion is a common deletion,and low molecular weight substance extracted from chick embryo could decrease the incidence of 4239 bD mtDNA deletion.%目的 探讨鸡胚低分子提取物对D-半乳糖诱导的衰老小鼠线粒体DNA(mtDNA)缺失突变的影响.方法 采用D-半乳糖诱导制备衰老小鼠模型并用鸡胚低分子提取物处理.用聚合酶链反应技术和琼脂糖凝胶电泳检测mtDNA缺失片段,密度扫描技术对扩增片段进行相对定量.缺失片段构建质粒后,直接测序进行鉴定.结果 全部小鼠的肝、大脑皮质与海马组织内均存在4239 bp的mtDNA缺失片段.衰老模型鼠不同组织mtDNA缺失的相对百分含量均明显高于正常对照组(均为P%0.01),而鸡胚低分子提取物可明显降低模型鼠肝、大脑皮质与海马组织内mtDNA缺失的比例(均为P<0.05).肝组织中mtDNA缺失的比例较大脑皮质和海马组织更高.结论 4239 bp的mtDNA缺失片段普遍存在

  2. Restoration of skilled locomotion by sprouting corticospinal axons induced by co-deletion of PTEN and SOCS3.

    Science.gov (United States)

    Jin, Duo; Liu, Yuanyuan; Sun, Fang; Wang, Xuhua; Liu, Xuefeng; He, Zhigang

    2015-01-01

    The limited rewiring of the corticospinal tract (CST) only partially compensates the lost functions after stroke, brain trauma and spinal cord injury. Therefore it is important to develop new therapies to enhance the compensatory circuitry mediated by spared CST axons. Here by using a unilateral pyramidotomy model, we find that deletion of cortical suppressor of cytokine signaling 3 (SOCS3), a negative regulator of cytokine-activated pathway, promotes sprouting of uninjured CST axons to the denervated spinal cord. A likely trigger of such sprouting is ciliary neurotrophic factor (CNTF) expressed in local spinal neurons. Such sprouting can be further enhanced by deletion of phosphatase and tensin homolog (PTEN), a mechanistic target of rapamycin (mTOR) negative regulator, resulting in significant recovery of skilled locomotion. Ablation of the corticospinal neurons with sprouting axons abolishes the improved behavioural performance. Furthermore, by optogenetics-based specific CST stimulation, we show a direct limb motor control by sprouting CST axons, providing direct evidence for the reformation of a functional circuit. PMID:26598325

  3. CCAAT/enhancer binding protein β deletion increases mitochondrial function and protects mice from LXR-induced hepatic steatosis

    International Nuclear Information System (INIS)

    Highlights: ► LXR agonist activation increases liver TG accumulation by increasing lipogenesis. ► C/EBPβ−/− mouse prevents LXR activation-mediated induction of hepatic lipogenesis. ► C/EBPβ deletion increases mitochondrial transport chain function. ► Beneficial effects of LXR activation on liver cholesterol metabolism did not change. ► C/EBPβ inhibition might have important therapeutic potential. -- Abstract: Drugs designed specifically to activate liver X receptors (LXRs) have beneficial effects on lowering cholesterol metabolism and inflammation but unfortunately lead to severe hepatic steatosis. The transcription factor CCAAT/enhancer binding protein beta (C/EBPβ) is an important regulator of liver gene expression but little is known about its involvement in LXR-based steatosis and cholesterol metabolism. The present study investigated the role of C/EBPβ expression in LXR agonist (T0901317)-mediated alteration of hepatic triglyceride (TG) and lipogenesis in mice. C/EBPβ deletion in mice prevented LXR agonist-mediated induction of lipogenic gene expression in liver in conjunction with significant reduction of liver TG accumulation. Surprisingly, C/EBPβ−/− mice showed a major increase in liver mitochondrial electron chain function compared to WT mice. Furthermore, LXR activation in C/EBPβ−/− mice increased the expression of liver ATP-binding cassette transporter ABCG1, a gene implicated in cholesterol efflux and reducing blood levels of total and LDL-cholesterol. Together, these findings establish a central role for C/EBPβ in the LXR-mediated steatosis and mitochondrial function, without impairing the influence of LXR activation on lowering LDL and increasing HDL-cholesterol. Inactivation of C/EBPβ might therefore be an important therapeutic strategy to prevent LXR activation-mediated adverse effects on liver TG metabolism without disrupting its beneficial effects on cholesterol metabolism.

  4. GD2-specific CAR T Cells Undergo Potent Activation and Deletion Following Antigen Encounter but can be Protected From Activation-induced Cell Death by PD-1 Blockade.

    Science.gov (United States)

    Gargett, Tessa; Yu, Wenbo; Dotti, Gianpietro; Yvon, Eric S; Christo, Susan N; Hayball, John D; Lewis, Ian D; Brenner, Malcolm K; Brown, Michael P

    2016-06-01

    Chimeric antigen receptor (CAR) T cells have shown great promise in the treatment of hematologic malignancies but more variable results in the treatment of solid tumors and the persistence and expansion of CAR T cells within patients has been identified as a key correlate of antitumor efficacy. Lack of immunological "space", functional exhaustion, and deletion have all been proposed as mechanisms that hamper CAR T-cell persistence. Here we describe the events following activation of third-generation CAR T cells specific for GD2. CAR T cells had highly potent immediate effector functions without evidence of functional exhaustion in vitro, although reduced cytokine production reversible by PD-1 blockade was observed after longer-term culture. Significant activation-induced cell death (AICD) of CAR T cells was observed after repeated antigen stimulation, and PD-1 blockade enhanced both CAR T-cell survival and promoted killing of PD-L1(+) tumor cell lines. Finally, we assessed CAR T-cell persistence in patients enrolled in the CARPETS phase 1 clinical trial of GD2-specific CAR T cells in the treatment of metastatic melanoma. Together, these data suggest that deletion also occurs in vivo and that PD-1-targeted combination therapy approaches may be useful to augment CAR T-cell efficacy and persistence in patients. PMID:27019998

  5. PP2C-like Promoter and Its Deletion Variants Are Induced by ABA but Not by MeJA and SA in Arabidopsis thaliana

    Science.gov (United States)

    Bhalothia, Purva; Sangwan, Chetna; Alok, Anshu; Mehrotra, Sandhya; Mehrotra, Rajesh

    2016-01-01

    Gene expression is mediated through interaction between cis regulatory elements and its cognate transcription factors. Cis regulatory elements are defined as non-coding DNA sequences that provide the binding sites for transcription factors and are clustered in the upstream region of genes. ACGT cis regulatory element is one of the important cis regulatory elements found to be involved in diverse biological processes like auxin response, salicylic acid (SA) response, UV light response, ABA response and jasmonic acid (JA) response. We identified through in silico analysis that the upstream region of protein phosphatase 2C (PP2C) gene has a distinct genetic architecture of ACGT elements. In the present study, the activation of the full length promoter and its deletion constructs like 900 base pair, 500 base pair, 400 base pair and NRM (Nathji Rajesh Mehrotra) were examined by stable transformation in Arabidopsis thaliana using β-glucuronidase as the reporter gene. Evaluation of deletion constructs of PP2C-like promoter was carried out in the presence of phytohormones like abscisic acid (ABA), SA and JA. Our result indicated that the full length and 900 base pair promoter-reporter constructs of PP2C-like promoter was induced in response to ABA but not to methyl jasmonate and SA. PMID:27200023

  6. Inducible and targeted deletion of the ERK5 MAP kinase in adult neurogenic regions impairs adult neurogenesis in the olfactory bulb and several forms of olfactory behavior.

    Directory of Open Access Journals (Sweden)

    Yung-Wei Pan

    Full Text Available Although adult-born neurons in the subventricular zone (SVZ and olfactory bulb (OB have been extensively characterized at the cellular level, their functional impact on olfactory behavior is still highly controversial with many conflicting results reported in the literature. Furthermore, signaling mechanisms regulating adult SVZ/OB neurogenesis are not well defined. Here we report that inducible and targeted deletion of erk5, a MAP kinase selectively expressed in the adult neurogenic regions of the adult brain, impairs adult neurogenesis in the SVZ and OB of transgenic mice. Although erk5 deletion had no effect on olfactory discrimination among discrete odorants in the habituation/dishabituation assay, it reduced short-term olfactory memory as well as detection sensitivity to odorants and pheromones including those evoking aggression and fear. Furthermore, these mice show impaired acquisition of odor-cued associative olfactory learning, a novel phenotype that had not been previously linked to adult neurogenesis. These data suggest that ERK5 MAP kinase is a critical kinase signaling pathway regulating adult neurogenesis in the SVZ/OB, and provide strong evidence supporting a functional role for adult neurogenesis in several distinct forms of olfactory behavior.

  7. The mouse small eye mutant, Del(2)Sey3H, which deletes the putative tumor suppressor region of the radiation-induced acute myeloid leukemia is susceptible to radiation

    International Nuclear Information System (INIS)

    Radiation-induced murine acute myeloid leukemia (AML) is characterized by the chromosome 2 deletions. Standing on the hypothesis that an AML suppressor gene would locate on the chromosome 2, a deletion-wide screen was performed on radiation-induced AMLs by the fluorescence in situ hybridization (FISH) method. The hemizugous deletion of the D2Mit15, a marker DNA at the 49.0cM region from the centromere, associated with the AMLs in 97 out of the 105 cases (92.4%). As the deletion region was close to the region of human WAGR syndrome (MIM194072), the mouse small eye mutants could be the animal model for radiation-induced AMLs. The mutant, Del(2)Sey3H (Sey3H) was found to delete around the 49.0cM region by the allelic loss mapping. The Sey3H showed high susceptibility to radiation to develop tumors including the myeloid leukemia with shorter latency. These finding support the existence of a putative tumor suppressor gene responsible for the radiation-leukemogenesis near the D2Mit15 region. (author)

  8. Deletion of the msdS/AfmsdC gene induces abnormal polarity and septation in Aspergillus fumigatus.

    Science.gov (United States)

    Li, Yanjie; Zhang, Lei; Wang, Depeng; Zhou, Hui; Ouyang, Haomiao; Ming, Jia; Jin, Cheng

    2008-07-01

    alpha-Mannosidases play an important role in the processing of mannose-containing glycans in eukaryotes. A deficiency in alpha-mannosidase is lethal in humans and cattle. In contrast to mammals, Saccharomyces cerevisiae does not require the endoplasmic reticulum alpha-mannosidase gene for growth. However, little is known of the consequence of loss of function of class I alpha-mannosidases in filamentous fungi. In this study, the msdS/AfmsdC gene was identified to encode 1,2-alpha-mannosidase MsdS in Aspergillus fumigatus. Soluble MsdS expressed in Escherichia coli was characterized as a typical class I alpha-mannosidase. The msdS gene was deleted by replacement of the msdS gene with a pyrG gene. Although the mutant showed a defect in N-glycan processing, as well as a reduction of cell wall components and a reduced ability of conidiation, it appeared that the rate of hyphal growth was not affected. Morphology analysis revealed abnormal polarity and septation at the stages of germination, hyphal growth and conidiation. Although the mechanism by which the N-glycan processing affects polarity and septation is unclear, our results show that msdS is involved in polarity and septation in A. fumigatus. PMID:18599824

  9. The vaccine properties of a Brazilian bovine herpesvirus 1 strain with an induced deletion of the gE gene

    International Nuclear Information System (INIS)

    Aiming at the development of a differential vaccine (DIVA) against infectious bovine rhinotracheitis (IBR), a Brazilian strain of bovine herpesvirus type 1 (BHV1) with a deletion of the glycoprotein E (gE) gene was constructed (265gE-). Here we present the experiments performed with this strain in order to evaluate its safety and efficacy as a vaccine virus in cattle. In the first experiment, a group of calves was inoculated with 265gE- and challenged with wild type virus 21 days post-inoculation. Calves immunized with 265gE- virus and challenged with wild type virus developed very mild clinical disease with a significant reduction in the amount of virus excretion and duration. The safety of the 265gE- during pregnancy was assessed using 22 pregnant cows, at different stages of gestation, that were inoculated with the 265gE- virus intramuscularly, with 15 pregnant cows kept as non-vaccinated controls. No abortions, stillbirths or foetal abnormalities were seen after vaccination. The results show that the 265gE- recombinant is attenuated and able to prevent clinical disease upon challenge. This recombinant will be further evaluated as a candidate virus for a BHV1 differential vaccine. (author)

  10. Deletion of Galectin-3 Enhances Xenobiotic Induced Murine Primary Biliary Cholangitis by Facilitating Apoptosis of BECs and Release of Autoantigens.

    Science.gov (United States)

    Arsenijevic, Aleksandar; Milovanovic, Marija; Milovanovic, Jelena; Stojanovic, Bojana; Zdravkovic, Natasa; Leung, Patrick S C; Liu, Fu-Tong; Gershwin, M Eric; Lukic, Miodrag L

    2016-01-01

    Galectin-3 (Gal-3) is a carbohydrate binding lectin, with multiple roles in inflammatory diseases and autoimmunity including its antiapoptotic effect on epithelial cells. In particular, increased expression of Gal-3 in epithelial cells is protective from apoptosis. Based on the thesis that apoptosis of biliary epithelial cells (BECs) is critical to the pathogenesis of Primary Biliary Cholangitis (PBC), we have analyzed the role of Gal-3 in the murine model of autoimmune cholangitis. We took advantage of Gal-3 knockout mice and immunized them with a mimotope of the major mitochondrial autoantigen of PBC, 2-octynoic acid (2-OA) coupled to BSA (2OA-BSA) and evaluated the natural history of subsequent disease, compared to control wild-type mice, by measuring levels of antibodies to PDC-E2, immunohistology of liver, and expression of Gal-3. We report herein that deletion of Gal-3 significantly exacerbates autoimmune cholangitis in these mice. This is manifested by increased periportal infiltrations, bile duct damage, granulomas and fibrosis. Interestingly, the BECs of Gal-3 knockout mice had a higher response to apoptotic stimuli and there were more pro-inflammatory lymphocytes and dendritic cells (DCs) in the livers of Gal-3 knockout mice. In conclusion, Gal-3 plays a protective role in the pathways that lead to the inflammatory destruction of biliary epithelial cells. PMID:26996208

  11. mTOR inhibitors induce apoptosis in colon cancer cells via CHOP-dependent DR5 induction on 4E-BP1 dephosphorylation.

    Science.gov (United States)

    He, K; Zheng, X; Li, M; Zhang, L; Yu, J

    2016-01-14

    The mammalian target of rapamycin (mTOR) is commonly activated in colon cancer. mTOR complex 1 (mTORC1) is a major downstream target of the PI3K/ATK pathway and activates protein synthesis by phosphorylating key regulators of messenger RNA translation and ribosome synthesis. Rapamycin analogs Everolimus and Temsirolimus are non-ATP-competitive mTORC1 inhibitors, and suppress proliferation and tumor angiogenesis and invasion. We now show that apoptosis plays a key role in their anti-tumor activities in colon cancer cells and xenografts through the DR5, FADD and caspase-8 axis, and is strongly enhanced by tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) and 5-fluorouracil. The induction of DR5 by rapalogs is mediated by the ER stress regulator and transcription factor CHOP, but not the tumor suppressor p53, on rapid and sustained inhibition of 4E-BP1 phosphorylation, and attenuated by eIF4E expression. ATP-competitive mTOR/PI3K inhibitors also promote DR5 induction and FADD-dependent apoptosis in colon cancer cells. These results establish activation of ER stress and the death receptor pathway as a novel anticancer mechanism of mTOR inhibitors. PMID:25867072

  12. Brain-specific natriuretic peptide receptor-B deletion attenuates high-fat diet-induced visceral and hepatic lipid deposition in mice.

    Science.gov (United States)

    Yamashita, Yui; Yamada-Goto, Nobuko; Katsuura, Goro; Ochi, Yukari; Kanai, Yugo; Miyazaki, Yuri; Kuwahara, Koichiro; Kanamoto, Naotetsu; Miura, Masako; Yasoda, Akihiro; Ohinata, Kousaku; Inagaki, Nobuya; Nakao, Kazuwa

    2016-07-01

    C-type natriuretic peptide (CNP) and its receptor, natriuretic peptide receptor-B (NPR-B), are abundantly distributed in the hypothalamus. To explore the role of central CNP/NPR-B signaling in energy regulation, we generated mice with brain-specific NPR-B deletion (BND mice) by crossing Nestin-Cre transgenic mice and mice with a loxP-flanked NPR-B locus. Brain-specific NPR-B deletion prevented body weight gain induced by a high-fat diet (HFD), and the mesenteric fat and liver weights were significantly decreased in BND mice fed an HFD. The decreased liver weight in BND mice was attributed to decreased lipid accumulation in the liver, which was confirmed by histologic findings and lipid content. Gene expression analysis revealed a significant decrease in the mRNA expression levels of CD36, Fsp27, and Mogat1 in the liver of BND mice, and uncoupling protein 2 mRNA expression was significantly lower in the mesenteric fat of BND mice fed an HFD than in that of control mice. This difference was not observed in the epididymal or subcutaneous fat. Although previous studies reported that CNP/NPR-B signaling inhibits SNS activity in rodents, SNS is unlikely to be the underlying mechanism of the metabolic phenotype observed in BND mice. Taken together, CNP/NPR-B signaling in the brain could be a central factor that regulates visceral lipid accumulation and hepatic steatosis under HFD conditions. Further analyses of the precise mechanisms will enhance our understanding of the contribution of the CNP/NPR-B system to energy regulation. PMID:27020246

  13. BP's emissions trading system

    International Nuclear Information System (INIS)

    Between 1998 and 2001, BP reduced its emissions of greenhouse gases by more than 10%. BP's success in cutting emissions is often equated with its use of an apparently market-based emissions trading program. However no independent study has ever examined the rules and operation of BP's system and the incentives acting on managers to reduce emissions. We use interviews with key managers and with traders in several critical business units to explore the bound of BP's success with emissions trading. No money actually changed hands when permits were traded, and the main effect of the program was to create awareness of money-saving emission controls rather than strong price incentives. We show that the trading system did not operate like a 'textbook' cap and trade scheme. Rather, the BP system operated much like a 'safety valve' trading system, where managers let the market function until the cost of doing so surpassed what the company was willing to tolerate

  14. Partial deletion 11q

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Tommerup, N; Sørensen, F B;

    1995-01-01

    We describe the cytogenetic findings and the dysmorphic features in a stillborn girl with a large de novo terminal deletion of the long arm of chromosome 11. The karyotype was 46,XX,del(11)(q21qter). By reviewing previous reports of deletion 11q, we found that cleft lip and palate are most...... frequently seen in proximal 11q deletions involving 11q21. Telomeric staining using the PRINS technique demonstrated normal telomeric sequences in the deleted chromosome 11....

  15. Genetic deletion of IL-25 (IL-17E) confers resistance to dextran sulfate sodium-induced colitis in mice

    Science.gov (United States)

    IL-25 is emerging as a key regulator of inflammation in the intestinal mucosa because of its ability to promote Th2 while suppressing Th1 and Th17 cytokine responses. We investigated the contribution of endogenous IL-25 to DSS-induced colitis in mice. Mice were exposed to DSS in drinking water ad li...

  16. A nine-nucleotide deletion and splice variation in the coding region of the interferon induced ISG12 gene

    DEFF Research Database (Denmark)

    Smidt, Kamille; Hansen, Lise Lotte; Søgaard, T Max M;

    2003-01-01

    Interferons (IFNs) are a family of cytokines with growth inhibitory, and antiviral functions. IFNs exert their biological actions through the expression of more than 1000 IFN stimulated genes, ISGs. ISG12 is an IFN type I induced gene encoding a protein of Mr 12,000. We have identified a novel, IFN...

  17. Functional clonal deletion versus suppressor cell-induced transplantation tolerance in chimeras prepared with a short course of total-lymphoid irradiation

    International Nuclear Information System (INIS)

    Allogeneic bone marrow (BM) chimeras induced by infusion of BM cells into recipients conditioned with total lymphoid irradiation (TLI) were shown to develop humoral and cell-mediated tolerance to host and donor-type alloantigens by a number of in vitro and in vivo assays. Spleen cells of tolerant chimeras exhibited suppressive activity of mixed lymphocyte reaction (MLR). MLR suppression was not abrogated by depletion of Lyt-2 cells, and neither could Lyt-2-positive cells sorted from the spleens of tolerant chimeras suppress MLR or attenuate graft-versus-host reactivity in vivo. Likewise, specifically unresponsive spleen cells obtained from chimeras could not be induced to respond in MLR against tolerizing host-type cells following depletion of Lyt-2 or passage through a nylon-wool column. Tolerance of chimera spleen cells to host alloantigens, best documented by permanent survival of donor-type skin allografts, could be adoptively transferred into syngeneic recipients treated by heavy irradiation but not into untreated or mildly irradiated recipients. Adoptive transfer of tolerance seemed to be associated with experimental conditions favoring engraftment of tolerant cells rather than suppression of host reactivity. We speculate that although host and/or donor-derived suppressor cells may be operating in reducing the pool of specific alloreactive clones by blocking cell proliferation in response to allogeneic challenge, the final outcome in tolerant chimeras is actual or functional deletion of alloreactive clones

  18. Inhibiting heat shock protein 90 (HSP90 limits the formation of liver cysts induced by conditional deletion of Pkd1 in mice.

    Directory of Open Access Journals (Sweden)

    Zachary B Smithline

    Full Text Available Polycystic liver disease (PLD occurs in 75-90% of patients affected by autosomal dominant polycystic kidney disease (ADPKD, which affects 1∶400-1,000 adults and arises from inherited mutations in the PKD1 or PKD2 genes. PLD can lead to bile duct obstructions, infected or bleeding cysts, and hepatomegaly, which can diminish quality of life. At present, no effective, approved therapy exists for ADPKD or PLD. We recently showed that inhibition of the molecular chaperone heat shock protein 90 (HSP90 with a small molecule inhibitor, STA-2842, induced the degradation of multiple HSP90-dependent client proteins that contribute to ADPKD pathogenesis and slowed the progression of renal cystogenesis in mice with conditional deletion of Pkd1. Here, we analyzed the effects of STA-2842 on liver size and cystic burden in Pkd-/- mice with established PLD. Using magnetic resonance imaging over time, we demonstrate that ten weeks of STA-2842 treatment significantly reduced both liver mass and cystic index suggesting selective elimination of cystic tissue. Pre-treatment cystic epithelia contain abundant HSP90; the degree of reduction in cysts was accompanied by inhibition of proliferation-associated signaling proteins EGFR and others, and induced cleavage of caspase 8 and PARP1, and correlated with degree of HSP90 inhibition and with inactivation of ERK1/2. Our results suggest that HSP90 inhibition is worth further evaluation as a therapeutic approach for patients with PLD.

  19. Neutrophil-specific deletion of the CARD9 gene expression regulator suppresses autoantibody-induced inflammation in vivo

    OpenAIRE

    Németh, Tamás; Futosi, Krisztina; Sitaru, Cassian; Ruland, Jürgen; Mócsai, Attila

    2016-01-01

    Neutrophils are terminally differentiated cells with limited transcriptional activity. The biological function of their gene expression changes is poorly understood. CARD9 regulates transcription during antifungal immunity but its role in sterile inflammation is unclear. Here we show that neutrophil CARD9 mediates pro-inflammatory chemokine/cytokine but not lipid mediator release during non-infectious inflammation. Genetic deficiency of CARD9 suppresses autoantibody-induced arthritis and derm...

  20. Col2CreERT2, A MOUSE MODEL FOR A CHONDROCYTE-SPECIFIC AND INDUCIBLE GENE DELETION

    OpenAIRE

    M. Chen; S. Li; Xie, W.; Wang, B; Chen, D.

    2014-01-01

    In 2007 and 2008, we published two articles reporting a tamoxifen (TM)-inducible, chondrocyte-specific gene-targeting mouse model in which the expression of CreERT2 is driven by the type II collagen promoter (Col2CreERT2). The fusion protein is specifically expressed and translocated into the nucleus upon TM administration, which in turn triggers gene recombination. Since then, this animal model has become a powerful tool to study the molecular mechanism of skeletal development and degenerati...

  1. α/β-Hydrolase Domain 6 Deletion Induces Adipose Browning and Prevents Obesity and Type 2 Diabetes.

    Science.gov (United States)

    Zhao, Shangang; Mugabo, Yves; Ballentine, Gwynne; Attane, Camille; Iglesias, Jose; Poursharifi, Pegah; Zhang, Dongwei; Nguyen, Thuy Anne; Erb, Heidi; Prentki, Raphael; Peyot, Marie-Line; Joly, Erik; Tobin, Stephanie; Fulton, Stephanie; Brown, J Mark; Madiraju, S R Murthy; Prentki, Marc

    2016-03-29

    Suppression of α/β-domain hydrolase-6 (ABHD6), a monoacylglycerol (MAG) hydrolase, promotes glucose-stimulated insulin secretion by pancreatic β cells. We report here that high-fat-diet-fed ABHD6-KO mice show modestly reduced food intake, decreased body weight gain and glycemia, improved glucose tolerance and insulin sensitivity, and enhanced locomotor activity. ABHD6-KO mice also show increased energy expenditure, cold-induced thermogenesis, brown adipose UCP1 expression, fatty acid oxidation, and white adipose browning. Adipose browning and cold-induced thermogenesis are replicated by the ABHD6 inhibitor WWL70 and by antisense oligonucleotides targeting ABHD6. Our evidence suggests that one mechanism by which the lipolysis derived 1-MAG signals intrinsic and cell-autonomous adipose browning is via PPARα and PPARγ activation, and that ABHD6 regulates adipose browning by controlling signal competent 1-MAG levels. Thus, ABHD6 regulates energy homeostasis, brown adipose function, and white adipose browning and is a potential therapeutic target for obesity and type 2 diabetes. PMID:26997277

  2. Detection of mitochondrial DNA deletion by a modified PCR method

    Institute of Scientific and Technical Information of China (English)

    汪振诚; 王学敏; 缪明永; 章卫平; 焦炳华; 倪庆桂

    2003-01-01

    Objective: To develop a simple and efficient method for detecting small populations of mitochondrial DNA deletion. Methods: Peripheral blood cell DNA was obtained from a victim who was accidently exposed to a 60Co radiation source 11 years ago. Using the DNA as template, PCR was performed to generate multiple products including true deletions and artifacts. The full length product was recovered and used as template of secondary PCR. The suspicious deletion product of mtDNA could be confirmed if it was only yielded by first PCR. Using either original primers or their nested primers, the suspicious deletion product was amplified and authenticated as true deletion product. The template was recovered and determined to be a deletion by sequencing directly. Results: A new mtDNA deletion, spanning 889 bp from nt11688 to nt12576, was detected in the peripheral blood cells of the victim. Conclusion: The new PCR-based method is more efficient in detecting small populations of mtDNA deletion than other routine methods. MtDNA deletion is found in the victim, suggesting there is relationship between the deletion and phenotypes of the disease.

  3. A neuron-specific deletion of the microRNA-processing enzyme DICER induces severe but transient obesity in mice.

    Directory of Open Access Journals (Sweden)

    Géraldine M Mang

    Full Text Available MicroRNAs (miRNAs are small, non-coding RNA molecules that regulate gene expression post-transcriptionally. MiRNAs are implicated in various biological processes associated with obesity, including adipocyte differentiation and lipid metabolism. We used a neuronal-specific inhibition of miRNA maturation in adult mice to study the consequences of miRNA loss on obesity development. Camk2a-CreERT2 (Cre+ and floxed Dicer (Dicerlox/lox mice were crossed to generate tamoxifen-inducible conditional Dicer knockouts (cKO. Vehicle- and/or tamoxifen-injected Cre+;Dicerlox/lox and Cre+;Dicer+/+ served as controls. Four cohorts were used to a measure body composition, b follow food intake and body weight dynamics, c evaluate basal metabolism and effects of food deprivation, and d assess the brain transcriptome consequences of miRNA loss. cKO mice developed severe obesity and gained 18 g extra weight over the 5 weeks following tamoxifen injection, mainly due to increased fat mass. This phenotype was highly reproducible and observed in all 38 cKO mice recorded and in none of the controls, excluding possible effects of tamoxifen or the non-induced transgene. Development of obesity was concomitant with hyperphagia, increased food efficiency, and decreased activity. Surprisingly, after reaching maximum body weight, obese cKO mice spontaneously started losing weight as rapidly as it was gained. Weight loss was accompanied by lowered O2-consumption and respiratory-exchange ratio. Brain transcriptome analyses in obese mice identified several obesity-related pathways (e.g. leptin, somatostatin, and nemo-like kinase signaling, as well as genes involved in feeding and appetite (e.g. Pmch, Neurotensin and in metabolism (e.g. Bmp4, Bmp7, Ptger1, Cox7a1. A gene cluster with anti-correlated expression in the cerebral cortex of post-obese compared to obese mice was enriched for synaptic plasticity pathways. While other studies have identified a role for miRNAs in obesity, we

  4. Mice with a targeted deletion of the type 2 deiodinase are insulin resistant and susceptible to diet induced obesity.

    Directory of Open Access Journals (Sweden)

    Alessandro Marsili

    Full Text Available BACKGROUND: The type 2 iodothyronine deiodinase (D2 converts the pro-hormone thyroxine into T3 within target tissues. D2 is essential for a full thermogenic response of brown adipose tissue (BAT, and mice with a disrupted Dio2 gene (D2KO have an impaired response to cold. BAT is also activated by overfeeding. METHODOLOGY/PRINCIPAL FINDINGS: After 6-weeks of HFD feeding D2KO mice gained 5.6% more body weight and had 28% more adipose tissue. Oxygen consumption (V0(2 was not different between genotypes, but D2KO mice had an increased respiratory exchange ratio (RER, suggesting preferential use of carbohydrates. Consistent with this, serum free fatty acids and β-hydroxybutyrate were lower in D2KO mice on a HFD, while hepatic triglycerides were increased and glycogen content decreased. Neither genotype showed glucose intolerance, but D2KO mice had significantly higher insulin levels during GTT independent of diet. Accordingly, during ITT testing D2KO mice had a significantly reduced glucose uptake, consistent with insulin resistance. Gene expression levels in liver, muscle, and brown and white adipose tissue showed no differences that could account for the increased weight gain in D2KO mice. However, D2KO mice have higher PEPCK mRNA in liver suggesting increased gluconeogenesis, which could also contribute to their apparent insulin resistance. CONCLUSIONS/SIGNIFICANCE: We conclude that the loss of the Dio2 gene has significant metabolic consequences. D2KO mice gain more weight on a HFD, suggesting a role for D2 in protection from diet-induced obesity. Further, D2KO mice appear to have a greater reliance on carbohydrates as a fuel source, and limited ability to mobilize and to burn fat. This results in increased fat storage in adipose tissue, hepatic steatosis, and depletion of liver glycogen in spite of increased gluconeogenesis. D2KO mice are also less responsive to insulin, independent of diet-induced obesity.

  5. Age-associated reduction of cell spreading induces mitochondrial DNA common deletion by oxidative stress in human skin dermal fibroblasts: implication for human skin connective tissue aging

    OpenAIRE

    Quan, Chunji; Cho, Moon Kyun; Perry, Daniel; Quan, Taihao

    2015-01-01

    Background Reduced cell spreading is a prominent feature of aged dermal fibroblasts in human skin in vivo. Mitochondrial DNA (mtDNA) common deletion has been reported to play a role in the human aging process, however the relationship between age-related reduced cell spreading and mtDNA common deletion has not yet been reported. Results To examine mtDNA common deletion in the dermis of aged human skin, the epidermis was removed from full-thickness human skin samples using cryostat. mtDNA comm...

  6. Secretory leukocyte protease inhibitor gene deletion alters bleomycin-induced lung injury, but not development of pulmonary fibrosis.

    Science.gov (United States)

    Habgood, Anthony N; Tatler, Amanda L; Porte, Joanne; Wahl, Sharon M; Laurent, Geoffrey J; John, Alison E; Johnson, Simon R; Jenkins, Gisli

    2016-06-01

    following lung injury. However, these changes do not prevent the development of lung fibrosis. Overall, these data suggest that the absence of Slpi does not markedly modify the development of lung fibrosis following bleomycin-induced lung injury. PMID:26974397

  7. 78 FR 60270 - BP America Inc., BP Corporation North America Inc., BP America Production Company, and BP Energy...

    Science.gov (United States)

    2013-10-01

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF ENERGY Federal Energy Regulatory Commission BP America Inc., BP Corporation North America Inc., BP America Production Company, and BP Energy Company; Notice of Designation of Commission Staff as Non-Decisional With...

  8. 3p deletion syndrome.

    Science.gov (United States)

    Kaur, Anupam; Khetarpal, S

    2013-08-01

    3p deletion is a rare cytogenetic finding. Here we describe a 3 months old male with congenital malformations. His karyotype revealed 3p deletion 46,XY,del(3)(p25-pter). The child had flexion deformity of wrist and elbow which has never been reported before. PMID:24036645

  9. Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

    Directory of Open Access Journals (Sweden)

    D. Wong

    2013-01-01

    Full Text Available The proximal q arm of chromosome 15 contains breakpoint regions BP1–BP5 with the classic deletion of BP1–BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features including hypertelorism, cleft or narrow palate, ear abnormalities, and recurrent upper airway infections. We report two patients with unique, never-before-reported 15q11.2 BP1-2 microdeletion syndrome findings, one with proximal esophageal atresia and distal tracheoesophageal fistula (type C and one with congenital cataracts. Cataracts have been described in Prader-Willi syndrome but we could not find any description of cataracts in Angelman syndrome. Esophageal atresia and tracheoesophageal fistula have not been reported to our knowledge in either syndrome. A chance exists that both cases are sporadic birth defects; however, the findings of the concomitant microdeletion cannot be overlooked as a possible cause. Based on our review of the literature and the presentation of our patients, we recommend that esophageal atresia and distal tracheoesophageal fistula as well as congenital cataracts be included in the phenotypic spectrum of 15q11.2 BP1-2 microdeletion syndrome.

  10. Intestine-specific Mttp deletion decreases mortality and prevents sepsis-induced intestinal injury in a murine model of Pseudomonas aeruginosa pneumonia.

    Directory of Open Access Journals (Sweden)

    Jessica A Dominguez

    Full Text Available BACKGROUND: The small intestine plays a crucial role in the pathophysiology of sepsis and has been referred to as the "motor" of the systemic inflammatory response. One proposed mechanism is that toxic gut-derived lipid factors, transported in mesenteric lymph, induce systemic injury and distant organ failure. However, the pathways involved are yet to be defined and the role of intestinal chylomicron assembly and secretion in transporting these lipid factors is unknown. Here we studied the outcome of sepsis in mice with conditional, intestine-specific deletion of microsomal triglyceride transfer protein (Mttp-IKO, which exhibit a block in chylomicron assembly together with lipid malabsorption. METHODOLOGY/PRINCIPAL FINDINGS: Mttp-IKO mice and controls underwent intratracheal injection with either Pseudomonas aeruginosa or sterile saline. Mttp-IKO mice exhibited decreased seven-day mortality, with 0/20 (0% dying compared to 5/17 (29% control mice (p<0.05. This survival advantage in Mttp-IKO mice, however, was not associated with improvements in pulmonary bacterial clearance or neutrophil infiltration. Rather, Mttp-IKO mice exhibited protection against sepsis-associated decreases in villus length and intestinal proliferation and were also protected against increased intestinal apoptosis, both central features in control septic mice. Serum IL-6 levels, a major predictor of mortality in human and mouse models of sepsis, were elevated 8-fold in septic control mice but remained unaltered in septic Mttp-IKO mice. Serum high density lipoprotein (HDL levels were reduced in septic control mice but were increased in septic Mttp-IKO mice. The decreased levels of HDL were associated with decreased hepatic expression of apolipoprotein A1 in septic control mice. CONCLUSIONS/SIGNIFICANCE: These studies suggest that strategies directed at blocking intestinal chylomicron secretion may attenuate the progression and improve the outcome of sepsis through effects

  11. Molecular basis of human growth hormone gene deletions

    International Nuclear Information System (INIS)

    Crossover sites resulting from unequal recombination within the human growth hormone (GH) gene cluster that cause GH1 gene deletions and isolated GH deficiency type 1A were localized in nine patients. In eight unrelated subjects homozygous for 6.7-kilobase (kb) deletions, the breakpoints are within two blocks of highly homologous DNA sequences that lie 5' and 3' to the GH1 gene. In seven of these eight cases, the breakpoints map within a 1,250-base-pair (bp) region composed of 300-bp Alu sequences of 86% homology and flanking non-Alu sequences that are 600 and 300 bp in length and are of 96% and 88% homology, respectively. In the eighth patient, the breakpoints are 5' to these Alu repeats and are most likely within a 700-bp-region of 96% homologous DNA sequences. In the ninth patient homozygous for a 7.6-kb deletion, the breakpoints are contained with a 29-bp perfect repeat lying 5' to GH1 and the human chorionic somatomammotropin pseudogene (CSHP1). Together, these results indicate that the presence of highly homologous DNA sequences flanking GH1 predispose to recurrent unequal recombinational events presumably through chromosomal misalignment

  12. Quantum deletion: Beyond the no-deletion principle

    International Nuclear Information System (INIS)

    Suppose we are given two identical copies of an unknown quantum state and we wish to delete one copy from among the given two copies. The quantum no-deletion principle restricts us from perfectly deleting a copy but it does not prohibit us from deleting a copy approximately. Here we construct two types of a 'universal quantum deletion machine' which approximately deletes a copy such that the fidelity of deletion does not depend on the input state. The two types of universal quantum deletion machines are (1) a conventional deletion machine described by one unitary operator and (2) a modified deletion machine described by two unitary operators. Here it is shown that the modified deletion machine deletes a qubit with fidelity 3/4, which is the maximum limit for deleting an unknown quantum state. In addition to this we also show that the modified deletion machine retains the qubit in the first mode with average fidelity 0.77 (approx.) which is slightly greater than the fidelity of measurement for two given identical states, showing how precisely one can determine its state [S. Massar and S. Popescu, Phys. Rev. Lett. 74, 1259 (1995)]. We also show that the deletion machine itself is input state independent, i.e., the information is not hidden in the deleting machine, and hence we can delete the information completely from the deletion machine

  13. Molecular characterization of microbial mutations induced by ion beam irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Ichida, Hiroyuki [Graduate School of Science and Technology, Chiba University, Matsudo, Chiba 271-8510 (Japan); Accelerator Applications Research Group, Nishina Center for Accelerator-Based Science, RIKEN, Wako, Saitama 351-0198 (Japan)], E-mail: ichida@riken.jp; Matsuyama, Tomoki [Cellular Biochemistry Laboratory, Discovery Research Institute, RIKEN, Wako, Saitama 351-0198 (Japan); Ryuto, Hiromichi [Accelerator Operation Group, Nishina Center for Accelerator-Based Science, RIKEN, Wako, Saitama 351-0198 (Japan); Hayashi, Yoriko [Accelerator Applications Research Group, Nishina Center for Accelerator-Based Science, RIKEN, Wako, Saitama 351-0198 (Japan); Fukunishi, Nobuhisa [Accelerator Operation Group, Nishina Center for Accelerator-Based Science, RIKEN, Wako, Saitama 351-0198 (Japan); Abe, Tomoko [Accelerator Applications Research Group, Nishina Center for Accelerator-Based Science, RIKEN, Wako, Saitama 351-0198 (Japan); Koba, Takato [Graduate School of Science and Technology, Chiba University, Matsudo, Chiba 271-8510 (Japan)

    2008-03-01

    A positive selection system for gene disruption using a sucrose-sensitive transgenic rhizobium was established and used for the molecular characterization of mutations induced by ion beam irradiations. Single nucleotide substitutions, insertions, and deletions were found to occur in the sucrose sensitivity gene, sacB, when the reporter line was irradiated with highly accelerated carbon and iron ion beams. In all of the insertion lines, fragments of essentially the same sequence and of approximately 1188 bp in size were identified in the sacB regions. In the deletion lines, iron ions showed a tendency to induce larger deletions than carbon ions, suggesting that higher LET beams cause larger deletions. We found also that ion beams, particularly 'heavier' ion beams, can produce single gene disruptions and may present an effective alternative to transgenic approaches.

  14. On fixed-parameter algorithms for Split Vertex Deletion

    OpenAIRE

    CYGAN, Marek; Pilipczuk, Marcin

    2012-01-01

    In the Split Vertex Deletion problem, given a graph G and an integer k, we ask whether one can delete k vertices from the graph G to obtain a split graph (i.e., a graph, whose vertex set can be partitioned into two sets: one inducing a clique and the second one inducing an independent set). In this paper we study fixed-parameter algorithms for Split Vertex Deletion parameterized by k: we show that, up to a factor quasipolynomial in k and polynomial in n, the Split Vertex Deletion problem can ...

  15. Three-dimensional imaging reveals the spatial separation of γH2AX–MDC1–53BP1 and RNF8–RNF168–BRCA1-A complexes at ionizing radiation-induced foci

    International Nuclear Information System (INIS)

    Background and purpose: Ionizing radiation (IR)-induced DNA damage causes the accumulation of DNA damage response (DDR) proteins as visible foci in cell nuclei. Despite the identified functional roles in DNA repair, the spatial relationships of different DDR proteins at foci have not been explicitly examined. This study aims to systematically compare the distribution of DDR proteins at IR-induced foci. Materials and methods: MCF-7 cells were treated with IR, stained for γH2AX, MDC1, RNF8, RNF168, 53BP1, Abraxas (CCDC98), BRCA1, BRCC36, Merit40 (NBA1) and RAP80, and then imaged using high-resolution three-dimensional (3-D) confocal microscopy to assess the relative localization of proteins at foci. Results: All BRCA1-A complex components displayed strong co-localization, which overlapped significantly with RNF8 and RNF168, but not with γH2AX and MDC1. Intriguingly, 53BP1 co-located well with γH2AX and MDC1, but remained separate from RNF8 and RNF168. These co-localization patterns were consistent for at least 3 h after IR. Conclusions: The foci formations of γH2AX–MDC1–53BP1 and RNF8–RNF168–BRCA1-A complexes are spatially independent. Such divergence was not anticipated from prior studies on the recruitment of these proteins to foci. This information indicates that individual foci may represent distinct sites of DNA repair facilitated by a specific subset of DDR proteins.

  16. Role of Evaluating MGMT Status and 1p36 Deletion in Radiosurgery-Induced Anaplastic Ependymoma That Rapidly and Completely Resolved by Temozolomide Alone: Case Report and Review of the Literature.

    Science.gov (United States)

    Hirono, Seiichiro; Iwadate, Yasuo; Kambe, Michiyo; Hiwasa, Takaki; Takiguchi, Masaki; Nakatani, Yukio; Saeki, Naokatsu

    2015-07-01

    Stereotactic gamma knife surgery (GKS)-induced brain tumors are extremely rare, and no ependymal tumors induced by GKS have been reported. Therefore, little is known about their clinical, pathologic, and genetic features. In addition, a regimen of adjuvant chemotherapy for anaplastic ependymoma (AE) has not been established. A 77-year-old man presented with a gait disturbance and left-side cerebellar ataxia more than 19 years after GKS performed for a cerebellar arteriovenous malformation. Imaging studies demonstrated an enhancing mass in the irradiated field with signs of intraventricular dissemination. Surgical resection confirmed the diagnosis of AE. Temozolomide (TMZ) was administrated postoperatively because the methylated promoter region of O(6)-methylguanine-DNA methyltransferase (MGMT) and 1p36 deletion were observed. Surprisingly, images 16 days after TMZ initiation demonstrated a complete resolution of the residual tumor that was maintained after three cycles of TMZ. This first case report of GKS-induced AE emphasizes the importance of genetic evaluation of MGMT and chromosomal deletion of 1p36 that are not commonly performed in primary ependymal tumors. In addition, it is speculated that a GKS-induced tumor may have a different genetic background compared with the primary tumor because the pathogenesis of the tumors differed. PMID:26251808

  17. A Novel Large-Scale Deletion of The Mitochondrial DNA of Spermatozoa of Men in North Iran

    Directory of Open Access Journals (Sweden)

    Maryam Gholinezhad Chari

    2015-02-01

    Full Text Available Background: To investigate the level of correlation between large-scale deletions of the mitochondrial DNA (mtDNA with defective sperm function. Materials and Methods: In this analytic study, a total of 25 semen samples of the normozoospermic infertile men from North of Iran were collected from the IVF center in an infertility clinic. The swim-up procedure was performed for the separation of spermatozoa into two groups; (normal motility group and abnormal motility group by 2.0 ml of Ham’s F-10 medium and 1.0 ml of semen. After total DNA extraction, a long-range polymerase chain reaction (PCR technique was used to determine the mtDNA deletions in human spermatozoa. Results: The products of PCR analysis showed a common 4977 bp deletion and a novel 4866 bp deletion (flanked by a seven-nucleotide direct repeat of 5΄-ACCCCCT-3΄ within the deleted area from the mtDNA of spermatozoa in both groups. However, the frequency of mtDNA deletions in abnormal motility group was significantly higher than the normal motility group (56, and 24% for 4866 bp-deleted mtDNA and, 52, and 28% for 4977 bp-deleted mtDNA, respectively. Conclusion: It is suggested that large-scale deletions of the mtDNA is associated with poor sperm motility and may be a causative factor in the decline of fertility in men.

  18. The rates and patterns of deletions in the human factor IX gene

    Energy Technology Data Exchange (ETDEWEB)

    Ketterling, R.P.; Vielhaber, E.L.; Lind, T.J.; Thorland, E.C.; Sommer S.S. (Mayo Clinic/Foundation, Rochester, MN (United States))

    1994-02-01

    Deletions are commonly observed in genes with either segments of highly homologous sequences or excessive gene length. However, in the factor IX gene and in most genes, deletions (of [ge]21 bp) are uncommon. The authors have analyzed DNA from 290 families with hemophilia B (203 independent mutations) and have found 12 deletions >20 bp. Eleven of these are >2 kb (range >3-163 kb), and one is 1.1 kb. The junctions of the four deletions that are completely contained within the factor IX gene have been determined. A novel mutation occurred in patient HB128: the data suggest that a 26.8-kb deletion occurred between two segments of alternating purines and pyrimidines and that a 2.3-kb sense strand segment derived from the deleted region was inserted. For a sample of 203 independent mutations, the authors estimate the [open quotes]baseline[close quotes] rates of deletional mutation per base pair per generation as a function of size. The rate for large (>2 kb)I deletions is exceedingly low. For every mutational event in which a given base is at the junction of a large deletion, there are an estimated 58 microdeletions (<20 bp) and 985 single-base substitutions at that base. Analysis of the nine reported deletion junctions in the factor IX gene literature reveals that (i) five are associated with inversion, orphan sequences, or sense strand insertions; (ii) four are simple deletions that display an excess of short direct repeats at their junctions; (iii) there is no dramatic clustering of junctions within the gene; and (iv) with the exception of alternating purines and pyrimidines, deletion junctions are not preferentially associated with repetitive DNA. 58 refs., 5 figs., 5 tabs.

  19. The yeast HRS1 gene encodes a polyglutamine-rich nuclear protein required for spontaneous and hpr1-induced deletions between direct repeats

    Energy Technology Data Exchange (ETDEWEB)

    Santos-Rosa, H.; Aguilera, A. [Universidad de Sevilla (Spain); Clever, B. [Univ. of Bern (Switzerland)] [and others

    1996-03-01

    The hrs1-1 mutation was isolated as an extragenic suppressor of the hyperrecombination phenotype of hpr1{Delta} cells. We have cloned, sequenced and deleted from the genome the HRS1 gene. The DNA sequence of the HRS1 gene reveals that it is identical to PGD1, a gene with no reported function, and that the Hrs1p protein contains polyglutamine stretches typically found in transcription factors. We have purified a His(6) tagged version of Hrs1p protein from E. coli and have obtained specific anti-Hrs1p polyclonal antibodies. We show that Hrs1p is a 49-kD nuclear protein, as determined bv indirect immunofluorescence microscopy and Western blot analysis. The hrs1{Delta} null mutation reduces the frequency of deletions in wild-type and hpr1{Delta} backgrounds sevenfold below wild-type and rad52 levels. Furthermore, hrs1{Delta} cells show reduced induction of the GAL1,10 promoter relative to wild-type cells. Our results suggest that Hrs1p is required for the formation of deletions between direct repeats and that it may function in gene expression. This suggests a connection between gene expression and direct repeat recombination. In this context, we discuss the possible roles of Hrs1p and Hpr1p in initiation of direct-repeat recombination. 62 refs., 5 figs., 5 tabs.

  20. Feature Analysis and Recognition of Induced Uranium Components Fission Signal Based on BP Neural Network%基于BP神经网络的诱发铀部件裂变信号特征分析及识别

    Institute of Scientific and Technical Information of China (English)

    谢军华; 刘知贵; 任立学; 张活力

    2012-01-01

    The paper presents feature parameter analysis and processing in fission time-dependent signal of induced uranium components based on BP-Neural Networks through the analysis of the measuring princi- ple and signal characteristics of induced uranium components fission signal. The auto correlation functions and cross correlation functions are calculated by using unbiased estimate, and then the feature parameters of fission signal in different status are extracted by using feature abstraction method, comparative method and derivative method, and then applied to training and prediction by means of BP-neural networks based on pattern recognition. Theoretical analysis and the results show that, it is effective to obtain feature pa- rameters of induced uranium component fission signal via comparative method and derivative method. Using BP neural network to tiveness and reasonability of recognize patter of fission signal, we got good results that verified the effec the method.%在对诱发铀部件裂变信号的测量原理及特点分析的基础上,开展了基于BP神经网络的诱发铀部件裂变时间关联信号特征参量分析处理的研究工作。采用无偏估计方法,计算信号的自相关函数和互相关函数,再利用比较法和导数法两种特征量提取方法,提取出不同状态下裂变信号的特征参量,借助于BP神经网络模式识别应用原理进行训练和预测。理论分析和研究结果表明:基于比较法和导数法获得的特征参量能较好地反映诱发铀部件裂变信号的特征;用BP神经网络对裂变信号进行模式识别,取得了较高的正确率,验证了此方法的有效性和合理性。

  1. A novel cis-acting element required for DNA damage-inducible expression of yeast DIN7

    International Nuclear Information System (INIS)

    Din7 is a DNA damage-inducible mitochondrial nuclease that modulates the stability of mitochondrial DNA (mtDNA) in Saccharomyces cerevisiae. How DIN7 gene expression is regulated, however, has remained largely unclear. Using promoter sequence alignment, we found a highly conserved 19-bp sequence in the promoter regions of DIN7 and NTG1, which encodes an oxidative stress-inducible base-excision-repair enzyme. Deletion of the 19-bp sequence markedly reduced the hydroxyurea (HU)-enhanced DIN7 promoter activity. In addition, nuclear fractions prepared from HU-treated cells were used in in vitro band shift assays to reveal the presence of currently unidentified trans-acting factor(s) that preferentially bound to the 19-bp region. These results suggest that the 19-bp sequence is a novel cis-acting element that is required for the regulation of DIN7 expression in response to HU-induced DNA damage

  2. Mucopolysaccharidosis type IVA: Common double deletion in the N-Acetylgalactosamine-6-sulfatase gene (GALNS)

    Energy Technology Data Exchange (ETDEWEB)

    Hori, Toshinori; Tomatsu, Shunji; Fukuda, Seiji [Gifu Univ. School of Medicine, Gifu (Japan)] [and others

    1995-04-10

    Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by a deficiency in N-acetylgalactosamine-6-sulfatase (GALNS). We found two separate deletions of nearly 8.0 and 6.0 kb in the GALNS gene, including some exons. There are Alu repetitive elements near the breakpoints of the 8.0-kb deletion, and this deletion resulted from an Alu-Alu recombination. The other 6.0-kb deletion involved illegitimate recombinational events between incomplete short direct repeats of 8 bp at deletion breakpoints. The same rearrangement has been observed in a heteroallelic state in four unrelated patients. This is the first documentation of a common double deletion a gene that is not a member of a gene cluster. 39 refs., 5 figs.

  3. Differential organ phenotypes after postnatal Igf1r gene conditional deletion induced by tamoxifen in UBC-CreERT2; Igf1r fl/fl double transgenic mice.

    Science.gov (United States)

    López, Icíar Paula; Rodriguez-de la Rosa, Lourdes; Pais, Rosete Sofia; Piñeiro-Hermida, Sergio; Torrens, Raquel; Contreras, Julio; Varela-Nieto, Isabel; Pichel, José García

    2015-04-01

    Insulin-like growth factor type 1 receptor (IGF1R) is a ubiquitously expressed tyrosine kinase that regulates cell proliferation, differentiation and survival. It controls body growth and organ homeostasis, but with specific functions depending on developmental time and cell type. Human deficiency in IGF1R is involved in growth failure, microcephaly, mental retardation and deafness, and its overactivation is implicated in oncogenesis. Igf1r-deficient mice die at birth due to growth retardation and respiratory failure. Although multiple Igf1r tissue-specific mutant lines have been analyzed postnatally, using Igf1r-floxed (Igf1r (fl/fl) ) mice mated with diverse cell-type recombinase Cre-expressing transgenics, no mouse models for the study of generalized Igf1r deficiency in adults have been reported. To this end we generated UBC-CreERT2; Igf1r (fl/fl) transgenic mice with an inducible deletion of Igf1r activated by tamoxifen. Tamoxifen administration to 4 week-old prepuberal male mice delayed their growth, producing a distinct impact on organ size 4 weeks later. Whereas testes were smaller, spleen and heart showed an increased organ to body weight ratio. Mosaic Igf1r genomic deletions caused a significant reduction in Igf1r mRNA in all organs analyzed, resulting in diverse phenotypes. While kidneys, spleen and cochlea had unaltered gross morphology, testes revealed halted spermatogenesis, and liver and alveolar lung parenchyma showed increased cell proliferation rates without affecting apoptosis. We demonstrate that UBC-CreERT2 transgenic mice efficiently delete Igf1r upon postnatal tamoxifen treatment in multiple mouse organs, and corroborate that IGF1R function is highly dependent on cell, tissue and organ type. PMID:25238791

  4. A 200 bp region of the pea ENOD12 promoter is sufficient for nodule-specific and nod factor induced expression

    DEFF Research Database (Denmark)

    Vijn, I; Christiansen, H; Lauridsen, P; Kardailsky, I; Quandt, H J; Broer, I; Drenth, J; Jensen, E O; van Kammen, A; Bisseling, T

    1995-01-01

    ENOD12 is one of the first nodulin genes expressed upon inoculation with Rhizobium and also purified Nod factors are able to induce ENOD12 expression. The ENOD12 gene family in pea (Pisum sativum) has two members. A cDNA clone representing PsENOD12A [26] and a PsENOD12B genomic clone [7] have been...

  5. Abnormal auditory and language pathways in children with 16p11.2 deletion

    OpenAIRE

    Berman, Jeffrey I.; Darina Chudnovskaya; Lisa Blaskey; Emily Kuschner; Pratik Mukherjee; Randall Buckner; Srikantan Nagarajan; Chung, Wendy K.; Spiro, John E; Sherr, Elliott H; Roberts, Timothy P. L.

    2015-01-01

    Copy number variations at chromosome 16p11.2 contribute to neurodevelopmental disorders, including autism spectrum disorder (ASD). This study seeks to improve our understanding of the biological basis of behavioral phenotypes common in ASD, in particular the prominent and prevalent disruption of spoken language seen in children with the 16p11.2 BP4–BP5 deletion. We examined the auditory and language white matter pathways with diffusion MRI in a cohort of 36 pediatric deletion carriers and 45 ...

  6. Genomic deletions and precise removal of transposable elements mediated by short identical DNA segments in primates

    OpenAIRE

    Louie N van de Lagemaat; Gagnier, Liane; Medstrand, Patrik; Mager, Dixie L.

    2005-01-01

    Insertion of transposable elements is a major cause of genomic expansion in eukaryotes. Less is understood, however, about mechanisms underlying contraction of genomes. In this study, we show that retroelements can, in rare cases, be precisely deleted from primate genomes, most likely via recombination between 10- to 20-bp target site duplications (TSDs) flanking the retroelement. The deleted loci are indistinguishable from pre-integration sites, effectively reversing the insertion. Through h...

  7. The Cell Death Inhibitor ARC Is Induced in a Tissue-Specific Manner by Deletion of the Tumor Suppressor Gene Men1, but Not Required for Tumor Development and Growth.

    Directory of Open Access Journals (Sweden)

    Wendy M McKimpson

    Full Text Available Multiple endocrine neoplasia type 1 (MEN1 is a genetic disorder characterized by tissue-specific tumors in the endocrine pancreas, parathyroid, and pituitary glands. Although tumor development in these tissues is dependent upon genetic inactivation of the tumor suppressor Men1, loss of both alleles of this gene is not sufficient to induce these cancers. Men1 encodes menin, a nuclear protein that influences transcription. A previous ChIP on chip analysis suggested that menin binds promoter sequences of nol3, encoding ARC, which is a cell death inhibitor that has been implicated in cancer pathogenesis. We hypothesized that ARC functions as a co-factor with Men1 loss to induce the tissue-restricted distribution of tumors seen in MEN1. Using mouse models that recapitulate this syndrome, we found that biallelic deletion of Men1 results in selective induction of ARC expression in tissues that develop tumors. Specifically, loss of Men1 in all cells of the pancreas resulted in marked increases in ARC mRNA and protein in the endocrine, but not exocrine, pancreas. Similarly, ARC expression increased in the parathyroid with inactivation of Men1 in that tissue. To test if ARC contributes to MEN1 tumor development in the endocrine pancreas, we generated mice that lacked none, one, or both copies of ARC in the context of Men1 deletion. Studies in a cohort of 126 mice demonstrated that, although mice lacking Men1 developed insulinomas as expected, elimination of ARC in this context did not significantly alter tumor load. Cellular rates of proliferation and death in these tumors were also not perturbed in the absence of ARC. These results indicate that ARC is upregulated by loss Men1 in the tissue-restricted distribution of MEN1 tumors, but that ARC is not required for tumor development in this syndrome.

  8. Role of DNA deletion length in mutation and cell survival

    International Nuclear Information System (INIS)

    A model is presented which is based on the assumption that malignant transformation, mutation, chromosome aberration, and reproductive death of cells are all manifestations of radiation induced deletions in the DNA of the cell, and that the size of the deletion in relation to the spacing of essential genes determines the consequences of that deletion. It is assumed that two independent types of potentially lethal lesions can result in DNA deletions, and that the relative numbers of these types of damage is dependent on radiation quality. The repair of the damage reduces the length of a deletion, but does not always eliminate it. The predictions of this model are in good agreement with a wide variety of experimental evidence. (author)

  9. Edit Distance with Block Deletions

    OpenAIRE

    Dana Shapira; Storer, James A.

    2011-01-01

    Several variants of the edit distance problem with block deletions are considered. Polynomial time optimal algorithms are presented for the edit distance with block deletions allowing character insertions and character moves, but without block moves. We show that the edit distance with block moves and block deletions is NP-complete (Nondeterministic Polynomial time problems in which any given solution to such problem can be verified in polynomial time, and any NP problem can be converted into...

  10. Functional Profiling Using the Saccharomyces Genome Deletion Project Collections.

    Science.gov (United States)

    Nislow, Corey; Wong, Lai Hong; Lee, Amy Huei-Yi; Giaever, Guri

    2016-01-01

    The ability to measure and quantify the fitness of an entire organism requires considerably more complex approaches than simply using traditional "omic" methods that examine, for example, the abundance of RNA transcripts, proteins, or metabolites. The yeast deletion collections represent the only systematic, comprehensive set of null alleles for any organism in which such fitness measurements can be assayed. Generated by the Saccharomyces Genome Deletion Project, these collections allow the systematic and parallel analysis of gene functions using any measurable phenotype. The unique 20-bp molecular barcodes engineered into the genome of each deletion strain facilitate the massively parallel analysis of individual fitness. Here, we present functional genomic protocols for use with the yeast deletion collections. We describe how to maintain, propagate, and store the deletion collections and how to perform growth fitness assays on single and parallel screening platforms. Phenotypic fitness analyses of the yeast mutants, described in brief here, provide important insights into biological functions, mechanisms of drug action, and response to environmental stresses. It is important to bear in mind that the specific assays described in this protocol represent some of the many ways in which these collections can be assayed, and in this description particular attention is paid to maximizing throughput using growth as the phenotypic measure. PMID:27587776

  11. EST Table: BP123183 [KAIKOcDNA[Archive

    Lifescience Database Archive (English)

    Full Text Available BP123183 epV30681 10/09/28 44 %/109 aa ref|XP_967427.2| PREDICTED: similar to hypoxia -inducible ... i|189237669|ref|XP_967427.2| PREDICTED: similar to hypoxia -inducible factor 1 alpha [Tribolium castaneum] FS9 ...

  12. Implication of p16 inactivation in tumorigenic activity of respiratory epithelial cell lines and adenocarcinoma cell line established from plutonium-induced lung tumor in rat

    International Nuclear Information System (INIS)

    To investigate whether p16 inactivation is involved in the development of rat pulmonary tumors, we compared the p16 status and tumorigenicity of cell lines which indicated different p16 status. The tumor cell line (PuD2) was established from lung adenocarcinoma induced in plutonium dioxide-inhaled rat in this study. The virus-immortalized SV40T2 cells, benzo[a]pyrene-induced BP cells, BP-derived BP(P)Tu cells, and gamma ray-transformed RTiv3 cells were utilized as the respiratory epithelial cell lines. A tumorigenicity assay-inoculating cells into nude mice revealed that PuD2, BP, and BP(P)Tu cells were tumorigenic, but SV40T2 and RTiv3 cells were not. Methylation-specific PCR of the p16 promoter region revealed that SV40T2 cells were unmethylated, BP cells displayed heterogeneous methylation, and BP(P)Tu and RTiv3 cells were completely methylated. Methylation-specific PCR and PCR of genomic DNA in the p16 region did not amplify product in PuD2 cells, indicating deletion of p16. Banded karyotypes prepared from PuD2 cells exhibited trisomy of chromosome 4, inversion in chromosome 11, and partial deletion of chromosomes 4 and 5. The de-methylating agent 5Aza2dC partially demethylated the p16 promoter region of BP(P)Tu, BP and RTiv3 cells, increasing expression of the p16 transcript and decreasing growth of the cells. These results indicate that hyper-methylation of the p16 promoter region occurs early in neoplastic transformation before acquisition of tumorigenicity in rat respiratory epithelium. Loss of genes located on chromosomes 4 and 5 may be important for tumor progression and acquisition of high tumorigenic activity in the Pu-induced rat lung tumor. (authors)

  13. The oil palm metallothionein promoter contains a novel AGTTAGG motif conferring its fruit-specific expression and is inducible by abiotic factors.

    Science.gov (United States)

    Omidvar, Vahid; Abdullah, Siti Nor Akmar; Izadfard, Amir; Ho, Chai Ling; Mahmood, Maziah

    2010-09-01

    The 1,053-bp promoter of the oil palm metallothionein gene (so-called MSP1) and its 5' deletions were fused to the GUS reporter gene, and analysed in transiently transformed oil palm tissues. The full length promoter showed sevenfold higher activity in the mesocarp than in leaves and 1.5-fold more activity than the CaMV35S promoter in the mesocarp. The 1,053-bp region containing the 5' untranslated region (UTR) gave the highest activity in the mesocarp, while the 148-bp region was required for minimal promoter activity. Two positive regulatory regions were identified at nucleotides (nt) -953 to -619 and -420 to -256 regions. Fine-tune deletion of the -619 to -420 nt region led to the identification of a 21-bp negative regulatory sequence in the -598 to -577 nt region, which is involved in mesocarp-specific expression. Gel mobility shift assay revealed a strong interaction of the leaf nuclear extract with the 21-bp region. An AGTTAGG core-sequence within this region was identified as a novel negative regulatory element controlling fruit-specificity of the MSP1 promoter. Abscisic acid (ABA) and copper (Cu(2+)) induced the activity of the promoter and its 5' deletions more effectively than methyl jasmonate (MeJa) and ethylene. In the mesocarp, the full length promoter showed stronger inducibility in response to ABA and Cu(2+) than its 5' deletions, while in leaves, the -420 nt fragment was the most inducible by ABA and Cu(2+). These results suggest that the MSP1 promoter and its regulatory regions are potentially useful for engineering fruit-specific and inducible gene expression in oil palm. PMID:20635097

  14. A New Intergenic α-Globin Deletion (α-α(Δ125)) Found in a Kabyle Population.

    Science.gov (United States)

    Rabbind Singh, Amrathlal; Lacan, Philippe; Cadet, Estelle; Bignet, Patricia; Dumesnil, Cécile; Vannier, Jean-Pierre; Joly, Philippe; Rochette, Jacques

    2016-03-01

    We have identified a deletion of 125 bp (α-α(Δ125)) (NG_000006.1: g.37040_37164del) in the α-globin gene cluster in a Kabyle population. A combination of singlex and multiplex polymerase chain reaction (PCR)-based assays have been used to identify the molecular defect. Sequencing of the abnormal PCR amplification product revealed a novel α1-globin promoter deletion. The endpoints of the deletion were characterized by sequencing the deletion junctions of the mutated allele. The observed deletion was located 378 bp upstream of the α1-globin gene transcription initiation site and leaves the α2 gene intact. In some patients, the α-α(Δ125) deletion was shown to segregate with Hb S (HBB: c.20A>T) and/or Hb C (HBB: c.19G>A) or a β-thalassemic allele. The α-α(Δ125) deletion has no discernible effect on red cell indices when inherited with no other abnormal globin genes. The family study demonstrated that the deletion is heritable. This is the only example of an intergenic α2-α1 non coding DNA deletion, leaving the α2-globin gene and the α1 coding part intact. PMID:26911300

  15. The single N-glycan deletion mutant of soluble ErbB3 protein attenuates heregulin β1-induced tumor progression by blocking of the HIF-1 and Nrf2 pathway

    Energy Technology Data Exchange (ETDEWEB)

    Takamiya, Rina, E-mail: rinataka0429@gmail.com; Takahashi, Motoko; Uehara, Yasuaki; Ariki, Shigeru; Hashimoto, Jiro; Hasegawa, Yoshihiro; Kuroki, Yoshio

    2014-11-21

    Highlights: • The sErbB3 N418Q mutant blocks heregulin β1 induced nuclear accumulation of HIF-1α. • The sErbB3 N418Q mutant attenuates cancer cell migration induced by heregulin β1. • The sErbB3 N418Q mutant blocks heregulin β1 induced nuclear accumulation of Nrf2. • The sErbB3 N418Q mutant may be a potential therapeutic application for tumor. - Abstract: It has been well documented that activation of the ErbB3–PI3K–Akt pathway is implicated in tumor survival and progression. We previously demonstrated that the single N-glycan deletion mutant of soluble ErbB3 protein (sErbB3 N418Q) attenuates heregulin β1-induced ErbB3 signaling. The active PI3K–Akt pathway augments the nuclear accumulation of hypoxia inducible factor (HIF)-1α, which activates the transcription of many target genes and drives cancer progression. In this study, we focused on the effects of sErbB3 N418Q mutant on nuclear accumulation of HIF-1α. Pretreatment with the sErbB3 N418Q mutant suppressed heregulin β1-induced HIF-1α activation in MCF7 cells. Similar results were also obtained in other breast cancer cell lines, T47D and BT474. Interestingly, these suppressive effects were not observed with the sErbB3 wild type. In addition, pretreatment with the sErbB3 N418Q mutant suppressed the cell migration of MCF7 cells induced by heregulin β1. Furthermore, incubation with heregulin β1 also induced the nuclear accumulation of Nrf2, and this effect was also reduced by the sErbB3 N418Q mutant, but not the sErbB3 wild type. These findings indicated that the sErbB3 N418Q mutant suppressed malignant formation of cancer cells by blocking of the HIF-1α and Nrf2 pathways.

  16. Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus

    Directory of Open Access Journals (Sweden)

    Yin Jun

    2006-11-01

    Full Text Available Abstract Background Congenital nephrogenic diabetes insipidus (NDI is a rare X-linked inherited disorder characterized by the excretion of large volumes of diluted urine and caused by mutations in arginine vasopressin receptor 2 (AVPR2 gene. To investigate the mutation of AVPR2 gene in a Chinese family with congenital NDI, we screened AVPR2 gene in two NDI patients and eight family members by PCR amplification and direct sequencing. Results Five specific fragments, covering entire coding sequence and their flanking intronic sequences of AVPR2 gene, were not observed in both patients, while those fragments were all detected in the control subjects. Several different fragments around the AVPR2 locus were amplified step by step. It was revealed that a genomic fragment of 5,995-bp, which contained the entire AVPR2 gene and the last exon (exon 22 of the C1 gene, was deleted and a 3-bp (GAG was inserted. Examination of the other family members showed that the mothers and the grandmother were carriers for this deletion. Conclusion Our findings suggest that the two patients in a Chinese family suffering from congenital NDI had a 5,995-bp deletion and 3-bp (GAG insertion at Xq28. The deletion contained the entire AVPR2 gene and exon 22 of the C1 gene.

  17. Ku80-deleted cells are defective at base excision repair

    Energy Technology Data Exchange (ETDEWEB)

    Li, Han [The University of Texas Health Science Center at San Antonio, The Institute of Biotechnology, The Department of Molecular Medicine, 15355 Lambda Drive, San Antonio, TX 78245-3207 (United States); Tumor Suppression Group, Spanish National Cancer Research Centre (CNIO), Madrid 28029 (Spain); Marple, Teresa [The University of Texas Health Science Center at San Antonio, The Institute of Biotechnology, The Department of Molecular Medicine, 15355 Lambda Drive, San Antonio, TX 78245-3207 (United States); Hasty, Paul, E-mail: hastye@uthscsa.edu [The University of Texas Health Science Center at San Antonio, The Institute of Biotechnology, The Department of Molecular Medicine, 15355 Lambda Drive, San Antonio, TX 78245-3207 (United States); Tumor Suppression Group, Spanish National Cancer Research Centre (CNIO), Madrid 28029 (Spain)

    2013-05-15

    Graphical abstract: - Highlights: • Ku80-deleted cells are hypersensitive to ROS and alkylating agents. • Cells deleted for Ku80, but not Ku70 or Lig4, have reduced BER capacity. • OGG1 rescues hypersensitivity to H{sub 2}O{sub 2} and paraquat in Ku80-mutant cells. • Cells deleted for Ku80, but not Lig4, are defective at repairing AP sites. • Cells deleted for Ku80, but not Lig4 or Brca2 exon 27, exhibit increased PAR. - Abstract: Ku80 forms a heterodimer with Ku70, called Ku, that repairs DNA double-strand breaks (DSBs) via the nonhomologous end joining (NHEJ) pathway. As a consequence of deleting NHEJ, Ku80-mutant cells are hypersensitive to agents that cause DNA DSBs like ionizing radiation. Here we show that Ku80 deletion also decreased resistance to ROS and alkylating agents that typically cause base lesions and single-strand breaks (SSBs). This is unusual since base excision repair (BER), not NHEJ, typically repairs these types of lesions. However, we show that deletion of another NHEJ protein, DNA ligase IV (Lig4), did not cause hypersensitivity to these agents. In addition, the ROS and alkylating agents did not induce γ-H2AX foci that are diagnostic of DSBs. Furthermore, deletion of Ku80, but not Lig4 or Ku70, reduced BER capacity. Ku80 deletion also impaired BER at the initial lesion recognition/strand scission step; thus, involvement of a DSB is unlikely. Therefore, our data suggests that Ku80 deletion impairs BER via a mechanism that does not repair DSBs.

  18. PLASMID DELETION FORMATION BETWEEN SHORT DIRECT REPEATS IN BACILLUS-SUBTILIS IS STIMULATED BY SINGLE-STRANDED ROLLING-CIRCLE REPLICATION INTERMEDIATES

    NARCIS (Netherlands)

    BRON, S; HOLSAPPEL, S; VENEMA, G; PEETERS, BPH

    1991-01-01

    The effects of the rolling-circle mode of replication and the generation of single-stranded DNA (ss DNA) on plasmid deletion formation between short direct repeats in Bacillus subtilis were studied. Deletion units consisting of direct repeats (9, 18, or 27 bp) that do or do not flank inverted repeat

  19. Deletion of dopamine D1 and D3 receptors differentially affects spontaneous behaviour and cocaine-induced locomotor activity, reward and CREB phosphorylation.

    Science.gov (United States)

    Karasinska, Joanna M; George, Susan R; Cheng, Regina; O'Dowd, Brian F

    2005-10-01

    Co-localization of dopamine D1 and D3 receptors in striatal neurons suggests that these two receptors interact at a cellular level in mediating dopaminergic function including psychostimulant-induced behaviour. To study D1 and D3 receptor interactions in cocaine-mediated effects, cocaine-induced locomotion and reward in mice lacking either D1, D3 or both receptors were analysed. Spontaneous locomotor activity was increased in D1-/- and D1-/-D3-/- mice and D1-/-D3-/- mice did not exhibit habituation of spontaneous rearing activity. Cocaine (20 mg/kg) increased locomotor activity in wild-type and D3-/- mice, failed to stimulate activity in D1-/- mice and reduced activity in D1-/-D3-/- mice. In the conditioned place preference, all groups exhibited reward at 5, 10 and 20 mg/kg of cocaine. D1-/-D3-/- mice did not demonstrate preference at 2.5 mg/kg of cocaine although preference was observed in wild-type, D1-/- and D3-/- mice. The transcription factor cAMP-responsive element binding protein (CREB) is activated by phosphorylation in striatal regions following dopamine receptor activation. Striatal pCREB levels following acute cocaine were increased in wild-type and D3-/- mice and decreased in D1-/- and D1-/-D3-/- mice. After repeated administration of 2.5 mg/kg of cocaine, D1-/- mice had lower pCREB levels in caudate-putamen and nucleus accumbens. Our findings suggest that, although spontaneous and cocaine-induced horizontal activity depended mainly on the presence of the D1 receptor, there may be crosstalk between D1 and D3 receptors in rearing habituation and the perception of cocaine reward at low doses of the drug. Furthermore, alterations in pCREB levels were associated with changes in cocaine-induced locomotor activity but not reward. PMID:16197514

  20. Deletion of Nuclear Factor kappa B p50 Subunit Decreases Inflammatory Response and Mildly Protects Neurons from Transient Forebrain Ischemia-induced Damage.

    Science.gov (United States)

    Rolova, Taisia; Dhungana, Hiramani; Korhonen, Paula; Valonen, Piia; Kolosowska, Natalia; Konttinen, Henna; Kanninen, Katja; Tanila, Heikki; Malm, Tarja; Koistinaho, Jari

    2016-08-01

    Transient forebrain ischemia induces delayed death of the hippocampal pyramidal neurons, particularly in the CA2 and medial CA1 area. Early pharmacological inhibition of inflammatory response can ameliorate neuronal death, but it also inhibits processes leading to tissue regeneration. Therefore, research efforts are now directed to modulation of post-ischemic inflammation, with the aim to promote beneficial effects of inflammation and limit adverse effects. Transcription factor NF-κB plays a key role in the inflammation and cell survival/apoptosis pathways. In the brain, NF-κB is predominantly found in the form of a heterodimer of p65 (RelA) and p50 subunit, where p65 has a transactivation domain while p50 is chiefly involved in DNA binding. In this study, we subjected middle-aged Nfkb1 knockout mice (lacking p50 subunit) and wild-type controls of both sexs to 17 min of transient forebrain ischemia and assessed mouse performance in a panel of behavioral tests after two weeks of post-operative recovery. We found that ischemia failed to induce clear memory and motor deficits, but affected spontaneous locomotion in genotype- and sex-specific way. We also show that both the lack of the NF-κB p50 subunit and female sex independently protected CA2 hippocampal neurons from ischemia-induced cell death. Additionally, the NF-κB p50 subunit deficiency significantly reduced ischemia-induced microgliosis, astrogliosis, and neurogenesis. Lower levels of hippocampal microgliosis significantly correlated with faster spatial learning. We conclude that NF-κB regulates the outcome of transient forebrain ischemia in middle-aged subjects in a sex-specific way, having an impact not only on neuronal death but also specific inflammatory responses and neurogenesis. PMID:27493832

  1. Intestine-Specific Mttp Deletion Decreases Mortality and Prevents Sepsis-Induced Intestinal Injury in a Murine Model of Pseudomonas aeruginosa Pneumonia

    OpenAIRE

    Dominguez, Jessica A.; Xie, Yan; Dunne, W. Michael; Yoseph, Benyam P.; Burd, Eileen M.; Coopersmith, Craig M.; Davidson, Nicholas O

    2012-01-01

    Background The small intestine plays a crucial role in the pathophysiology of sepsis and has been referred to as the “motor” of the systemic inflammatory response. One proposed mechanism is that toxic gut-derived lipid factors, transported in mesenteric lymph, induce systemic injury and distant organ failure. However, the pathways involved are yet to be defined and the role of intestinal chylomicron assembly and secretion in transporting these lipid factors is unknown. Here we studied the out...

  2. Inducible cephalosporinase production in clinical isolates of Enterobacter cloacae is controlled by a regulatory gene that has been deleted from Escherichia coli.

    OpenAIRE

    Honoré, N; Nicolas, M H; Cole, S T

    1986-01-01

    Cephalosporin hyper-resistant Enterobacter cloacae strains are isolated with increasing frequency from hospital infections. Resistance is principally due to the chromosomal ampC gene encoding a cephalosporinase. In contrast to Escherichia coli which expresses ampC constitutively from a promoter located in the upstream frdD gene, E. cloacae displays inducible ampC expression. By cloning the ampC gene it was shown that a linked genetic locus, ampR, mediated the induction by beta-lactams. In the...

  3. Deletion of Pim kinases elevates the cellular levels of reactive oxygen species and sensitizes to K-Ras-induced cell killing.

    Science.gov (United States)

    Song, J H; An, N; Chatterjee, S; Kistner-Griffin, E; Mahajan, S; Mehrotra, S; Kraft, A S

    2015-07-01

    The Pim protein kinases contribute to transformation by enhancing the activity of oncogenic Myc and Ras, which drives significant metabolic changes during tumorigenesis. In this report, we demonstrate that mouse embryo fibroblasts (MEFs) lacking all three isoforms of Pim protein kinases, triple knockout (TKO), cannot tolerate the expression of activated K-Ras (K-Ras(G12V)) and undergo cell death. Transduction of K-Ras(G12V) into these cells markedly increased the level of cellular reactive oxygen species (ROS). The addition of N-acetyl cysteine attenuated ROS production and reversed the cytotoxic effects of K-Ras(G12V) in the TKO MEFs. The altered cellular redox state caused by the loss of Pim occurred as a result of lower levels of metabolic intermediates in the glycolytic and pentose phosphate pathways as well as abnormal mitochondrial oxidative phosphorylation. TKO MEFs exhibit reduced levels of superoxide dismutase (Sod), glutathione peroxidase 4 (Gpx4) and peroxiredoxin 3 (Prdx3) that render them susceptible to killing by K-Ras(G12V)-mediated ROS production. In contrast, the transduction of c-Myc into TKO cells can overcome the lack of Pim protein kinases by regulating cellular metabolism and Sod2. In the absence of the Pim kinases, c-Myc transduction permitted K-Ras(G12V)-induced cell growth by decreasing Ras-induced cellular ROS levels. These results demonstrate that the Pim protein kinases have an important role in regulating cellular redox, metabolism and K-Ras-stimulated cell growth. PMID:25241892

  4. ATLAS DQ2 DELETION SERVICE

    CERN Document Server

    Oleynik, D; The ATLAS collaboration; Garonne, V; Campana, S

    2012-01-01

    ATLAS DQ2 Deletion service is a sub system of the ATLAS Distributed Data Management (DDM) project DQ2. DDM DQ2 responsible for the replication, access and bookkeeping of ATLAS data across more than 130 distributed grid sites. It also enforces data management policies decided on by the collaboration and defined in the ATLAS computing model. Responsibility of ATLAS DQ2 Deletion service is serving deletion requests on the grid by interacting with grid middleware and the DQ2 catalogues. Furthermore, it also takes care of retry strategies, check-pointing transactions, load management and fault tolerance. In this talk special attention is paid to the technical details, which are used to achieve the high performance of service, accomplished without overloading either site storage, catalogues or other DQ2 components. Also specialty of database backend implementation will be described. Special section will be devote to the deletion monitoring service that allows operators a detailed view of the working system.

  5. ATLAS DQ2 Deletion Service

    CERN Document Server

    OLEYNIK, D; The ATLAS collaboration; GARONNE, V; CAMPANA, S

    2012-01-01

    The ATLAS Distributed Data Management project DQ2 is responsible for the replication, access and bookkeeping of ATLAS data across more than 100 distributed grid sites. It also enforces data management policies decided on by the collaboration and defined in the ATLAS computing model. The DQ2 deletion service is one of the most important DDM services. This distributed service interacts with 3rd party grid middleware and the DQ2 catalogs to serve data deletion requests on the grid. Furthermore, it also takes care of retry strategies, check-pointing transactions, load management and fault tolerance. In this paper special attention is paid to the technical details which are used to achieve the high performance of service (peaking at more than 4 millions files deleted per day), accomplished without overloading either site storage, catalogs or other DQ2 components. Special attention is also paid to the deletion monitoring service that allows operators a detailed view of the working system.

  6. Genetic deletion of the adenosine A(2A) receptor prevents nicotine-induced upregulation of α7, but not α4β2* nicotinic acetylcholine receptor binding in the brain.

    Science.gov (United States)

    Metaxas, Athanasios; Al-Hasani, Ream; Farshim, Pamela; Tubby, Kristina; Berwick, Amy; Ledent, Catherine; Hourani, Susanna; Kitchen, Ian; Bailey, Alexis

    2013-08-01

    Considerable evidence indicates that adenosine A(2A) receptors (A(2A)Rs) modulate cholinergic neurotransmission, nicotinic acetylcholine receptor (nAChR) function, and nicotine-induced behavioural effects. To explore the interaction between A(2A) and nAChRs, we examined if the complete genetic deletion of adenosine A(2A)Rs in mice induces compensatory alterations in the binding of different nAChR subtypes, and whether the long-term effects of nicotine on nAChR regulation are altered in the absence of the A(2A)R gene. Quantitative autoradiography was used to measure cytisine-sensitive [¹²⁵I]epibatidine and [¹²⁵I]α-bungarotoxin binding to α4β2* and α7 nAChRs, respectively, in brain sections of drug-naïve (n = 6) or nicotine treated (n = 5-7), wild-type and adenosine A(2A)R knockout mice. Saline or nicotine (7.8 mg/kg/day; free-base weight) were administered to male CD1 mice via subcutaneous osmotic minipumps for a period of 14 days. Blood plasma levels of nicotine and cotinine were measured at the end of treatment. There were no compensatory developmental alterations in nAChR subtype distribution or density in drug-naïve A(2A)R knockout mice. In nicotine treated wild-type mice, both α4β2* and α7 nAChR binding sites were increased compared with saline treated controls. The genetic ablation of adenosine A(2A)Rs prevented nicotine-induced upregulation of α7 nAChRs, without affecting α4β2* receptor upregulation. This selective effect was observed at plasma levels of nicotine that were within the range reported for smokers (10-50 ng ml⁻¹). Our data highlight the involvement of adenosine A(2A)Rs in the mechanisms of nicotine-induced α7 nAChR upregulation, and identify A(2A)Rs as novel pharmacological targets for modulating the long-term effects of nicotine on α7 receptors. PMID:23583933

  7. Deletion analysis of susy-sl promoter for the identification of optimal promoter sequence

    International Nuclear Information System (INIS)

    The promoter region of sucrose synthase (susy-Sl) was identified and isolated from tomato. The 5? deletion analysis was carried out for the identification of minimum optimal promoter. Transgenic lines of Arabidopsis thaliana were developed by floral dip method incorporating various promoter deletion cassettes controlling GUS reporter gene. GUS assay of transgenic tissues indicated that full length susy-Sl promoter and its deletion mutants were constitutively expressed in vegetative and floral tissues of A. thaliana. The expression was observed in roots, shoots and flowers of A. thaliana. Analysis of 5? deletion series of susy-Sl promoter showed that a minimum of 679 bp fragment of the promoter was sufficient to drive expression of GUS reporter gene in the major tissues of transgenic A. thaliana. (author)

  8. Influence of BP Ultimate on engine cleanliness

    OpenAIRE

    Mieghem, R.S.P. van

    2007-01-01

    During early 2005, BP introduced two new fuels in the Netherlands. These new products are called BP Ultimate 98 Unleaded and BP Ultimate Diesel. These fuels were formulated to offer several benefits compared to ordinary fuels, specifically in engine cleanliness. TNO was asked to evaluate the test results from BP, examine the stated claims and, if proven, to give a specific endorsement of calculated claims of the product(s). In order to understand the performed research and the arising conclus...

  9. Research On Coagulation Zone Prediction Induced By Cooled-tip Radiofrequency Ablation Base On The BP Neural Network%基于BP神经网络的冷极射频消融凝固灶预测研究

    Institute of Scientific and Technical Information of China (English)

    郑丹平; 朱名日; 刘文彬; 姚鑫; 潘凯

    2014-01-01

    射频消融过程非常复杂,它的疗效影响因素多且关系复杂。在冷极射频消融仪治疗肿瘤过程中,射频输出功率和循环水泵转速起着重要作用。为扩大消融范围,达到一次性灭活肿瘤细胞,在治疗前,需选择适当的治疗参数。将BP神经网络模型引入射频消融中,建立冷极射频消融凝固灶预测的模型,并对效果进行检验。结果表明:检验样本中消融凝固灶与实际值的线性相关系数为0.988。针对消融横径,其相对误差的平均值为0.01。该模型对射频消融参数设置起到一定的支持作用,具有一定的实际参考价值。%The process of radiofrequency ablation is very complicated, there are many factors to influence the ef-fect and the relation is complex. The power output by RF and circulating pump speed plays an important role in the process of treatment by cooled-tip RFA. To expand the scope of ablation, the appropriate parameters should be se-lected to achieve one-time inactivated tumor cells before treatment. The BP neural network is introduced in the radiofrequency ablation. A model of coagulation zone prediction induced by cooled-tip radiofrequency ablation is built. The results show that the test sample correlation coefficient of linear ablation lesion and actual value is 0.988. For ablation diameter, the average value of the relative error is 0.01.The model plays a supporting role on parameter setting of radiofrequency ablation, which has some practical value.

  10. Blocking rolling circle replication with a UV lesion creates a deletion hotspot.

    Science.gov (United States)

    Seigneur, M; Ehrlich, S D; Michel, B

    1997-11-01

    UV light irradiation increases genetic instability by causing mutations and deletions. The mechanism of UV-induced rearrangements was investigated making use of deletion-prone plasmids. Chimeric plasmids carrying pBR322 and M13 replication origins undergo deletions that join the M13 replication origin to a random nucleotide. A restriction fragment was UV irradiated, introduced into such a hybrid plasmid and deletions formed at the M13 origin were analysed. In most of the deletant molecules, the M13 replication nick site was linked to a nucleotide in the irradiated fragment, showing that UV lesions are deletion hotspots. These deletions were independent of the UvrABC excision repair proteins, suggesting that the deletogenic structure is the lesion itself and not a repair intermediate. They were not found in the absence of M13 replication, indicating that they result from the encounter of the M13 replication fork with the UV lesion. Furthermore, UV-induced deletions occurred independently of pBR322 replication. We conclude that, in contrast to pBR322 replication forks, M13 replication forks blocked by UV lesions are deletion prone. We propose that the deletion-prone properties of a UV-arrested polymerase depend on the associated helicase. PMID:9402026

  11. Application of genetic BP network to discriminating earthquakes and explosions

    Institute of Scientific and Technical Information of China (English)

    边银菊

    2002-01-01

    In this paper, we develop GA-BP algorithm by combining genetic algorithm (GA) with back propagation (BP) algorithm and establish genetic BP neural network. We also applied BP neural network based on BP algorithm and genetic BP neural network based on GA-BP algorithm to discriminate earthquakes and explosions. The obtained result shows that the discriminating performance of genetic BP network is slightly better than that of BP network.

  12. ATLAS DQ2 Deletion Service

    CERN Document Server

    OLEYNIK, D; The ATLAS collaboration; GARONNE, V; CAMPANA, S

    2012-01-01

    The ATLAS Distributed Data Management project DQ2 is responsible for the replication, access and bookkeeping of ATLAS data across more than 100 distributed grid sites. It also enforces data management policies decided on by the collaboration and defined in the ATLAS computing model. The DQ2 Deletion Service is one of the most important DDM services. This distributed service interacts with 3rd party grid middleware and the DQ2 catalogues to serve data deletion requests on the grid. Furthermore, it also takes care of retry strategies, check-pointing transactions, load management and fault tolerance. In this paper special attention is paid to the technical details which are used to achieve the high performance of service, accomplished without overloading either site storage, catalogues or other DQ2 components. Special attention is also paid to the deletion monitoring service that allows operators a detailed view of the working system.

  13. Association of a Chromosomal Rearrangement Event with Mouse Posterior Polymorphous Corneal Dystrophy and Alterations in Csrp2bp, Dzank1, and Ovol2 Gene Expression.

    Directory of Open Access Journals (Sweden)

    Anna L Shen

    Full Text Available We have previously described a mouse model of human posterior polymorphous corneal dystrophy (PPCD and localized the causative mutation to a 6.2 Mbp region of chromosome 2, termed Ppcd1. We now show that the gene rearrangement linked to mouse Ppcd1 is a 3.9 Mbp chromosomal inversion flanked by 81 Kbp and 542 bp deletions. This recombination event leads to deletion of Csrp2bp Exons 8 through 11, Dzank1 Exons 20 and 21, and the pseudogene Znf133. In addition, we identified translocation of novel downstream sequences to positions adjacent to Csrp2bp Exon 7 and Dzank1 Exon 20. Twelve novel fusion transcripts involving Csrp2bp or Dzank1 linked to downstream sequences have been identified. Eight are expressed at detectable levels in PPCD1 but not wildtype eyes. Upregulation of two Csrp2bp fusion transcripts, as well as upregulation of the adjacent gene, Ovol2, was observed. Absence of the PPCD1 phenotype in animals haploinsufficient for Csrp2bp or both Csrp2bp and Dzank1 rules out haploinsufficiency of these genes as a cause of mouse PPCD1. Complementation experiments confirm that PPCD1 embryonic lethality is due to disruption of Csrp2bp expression. The ocular expression pattern of Csrp2bp is consistent with a role for this protein in corneal development and pathogenesis of PPCD1.

  14. TopBP1 is required at mitosis to reduce transmission of DNA damage to G1 daughter cells

    DEFF Research Database (Denmark)

    Pedersen, Rune Troelsgaard; Kruse, Thomas; Nilsson, Jakob;

    2015-01-01

    mitotic entry. In early mitosis, TopBP1 marks sites of and promotes unscheduled DNA synthesis. Moreover, TopBP1 is required for focus formation of the structure-selective nuclease and scaffold protein SLX4 in mitosis. Persistent TopBP1 foci transition into 53BP1 nuclear bodies (NBs) in G1 and precise...... temporal depletion of TopBP1 just before mitotic entry induced formation of 53BP1 NBs in the next cell cycle, showing that TopBP1 acts to reduce transmission of DNA damage to G1 daughter cells. Based on these results, we propose that TopBP1 maintains genome integrity in mitosis by controlling chromatin...

  15. Abnormal auditory and language pathways in children with 16p11.2 deletion

    Directory of Open Access Journals (Sweden)

    Jeffrey I. Berman

    2015-01-01

    Full Text Available Copy number variations at chromosome 16p11.2 contribute to neurodevelopmental disorders, including autism spectrum disorder (ASD. This study seeks to improve our understanding of the biological basis of behavioral phenotypes common in ASD, in particular the prominent and prevalent disruption of spoken language seen in children with the 16p11.2 BP4–BP5 deletion. We examined the auditory and language white matter pathways with diffusion MRI in a cohort of 36 pediatric deletion carriers and 45 age-matched controls. Diffusion MR tractography of the auditory radiations and the arcuate fasciculus was performed to generate tract specific measures of white matter microstructure. In both tracts, deletion carriers exhibited significantly higher diffusivity than that of controls. Cross-sectional diffusion parameters in these tracts changed with age with no group difference in the rate of maturation. Within deletion carriers, the left-hemisphere arcuate fasciculus mean and radial diffusivities were significantly negatively correlated with clinical language ability, but not non-verbal cognitive ability. Diffusion metrics in the right-hemisphere arcuate fasciculus were not predictive of language ability. These results provide insight into the link between the 16p11.2 deletion, abnormal auditory and language pathway structures, and the specific behavioral deficits that may contribute to neurodevelopmental disorders such as ASD.

  16. Akt Switches TopBP1 Function from Checkpoint Activation to Transcriptional Regulation through Phosphoserine Binding-Mediated Oligomerization

    OpenAIRE

    Liu, Kang; Graves, Joshua D.; Scott, Jessica D.; Li, Rongbao; Lin, Weei-Chin

    2013-01-01

    Our previous study showed that Akt phosphorylates TopBP1 at the Ser-1159 residue and induces its oligomerization. Oligomerization is required for TopBP1 to bind and repress E2F1 activity. However, the mechanism through which phosphorylation of TopBP1 by Akt leads to its oligomerization remains to be determined. Here, we demonstrate that binding between the phosphorylated Ser-1159 (pS1159) residue and the 7th and 8th BRCT domains of TopBP1 mediates TopBP1 oligomerization. Mutations within the ...

  17. Phenotypic reversion of an IS1-mediated deletion mutation: a combined role for point mutations and deletions in transposon evolution.

    Science.gov (United States)

    Lida, S; Marcoli, R; Bickle, T A

    1982-01-01

    We have physically characterised a deletion mutant of the R plasmid R100 which has lost all of the antibiotic resistances, including chloramphenicol resistance (Cmr), coded by its IS1-flanked r-determinant. The deletion was mediated by one of the flanking IS1 elements and terminates within the carboxyl terminus of the Cmr gene. DNA sequence analysis showed that the mutated gene would produce a protein 20 amino acids longer than the wild-type due to fusion with an open reading frame in the IS element. Surprisingly for a deletion mutation, rare, spontaneous Cmr revertants could be recovered. Two of the four revertants studied had frame shifts due to the insertion of a single AT base pair at the same position; the revertants would code for a protein five amino acids shorter than the wild-type. The other two revertants had acquired duplications of the 34-bp inverted terminal repeat sequences of the IS1 element and would direct the synthesis of a protein six amino acids longer than the wild-type. The reverted Cmr markers were still capable of transposition. These observations suggest a role for point mutations and small DNA rearrangements in the formation of new gene organisations produced by mobile genetic elements. PMID:6329702

  18. BP petchems unaffected by refinery sales

    Energy Technology Data Exchange (ETDEWEB)

    Young, I.

    1996-01-17

    BP chemicals says its petrochemical activities at Lima, Ohio and Lavera, France are unlikely to be affected by the BP group`s decision to sell or close its refineries at those sites. BP purchases propylene for acrylonitrile production from its Lima and Toledo, OH refineries. {open_quotes}Until we know who the buyer [of the Lima refinery] is and the terms of the sale, it is difficult to estimate the impact,{close_quotes} BP says. The company intends to continue operating the Lima acrylo unit. BP says its chemical activities in France - including the Lavera-based Naphtachimie olefins joint venture with Elf Atochem - are excluded from any intentions for the Lavera refinery and that there is no direct impact on them. {open_quotes}Any decision on the [refinery] sale will be geared toward protecting the value of these chemical interests as well as the synergy benefits from the refinery and petrochemical complex,{close_quotes} BP says.

  19. Seven gene deletions in seven days

    DEFF Research Database (Denmark)

    Ingemann Jensen, Sheila; Lennen, Rebecca; Herrgard, Markus;

    2015-01-01

    enables growth at 37 °C, thereby facilitating removal of integrated antibiotic cassettes and deletion of additional genes in the same day. Phosphorothioated primers were demonstrated to enable simultaneous deletions during one round of electroporation. Utilizing these methods, we constructed strains in...... deletion of multiple genes in several E. coli variants. The method enables deletion of up to seven genes in as little as seven days....

  20. 76 FR 22680 - Procurement List; Deletions

    Science.gov (United States)

    2011-04-22

    ... INFORMATION: Deletions On 2/25/2011 (76 FR 10571), the Committee for Purchase From People Who Are Blind or... PEOPLE WHO ARE BLIND OR SEVERELY DISABLED Procurement List; Deletions AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Deletions from the Procurement List. SUMMARY:...

  1. AcEST: BP919972 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000131_D11 515 Adiantum capillus-veneris mRNA. clone: YMU001_000131_D11. BP919972 - Show ... n containing 21 O... 35 1.7 tr|A2BFG8|A2BFG8_MOUSE Ethanol ... induced 1 OS=Mus musculus GN=Etoh... 35 2.2 tr|B4M ...

  2. Hepatic Mttp deletion reverses gallstone susceptibility in L-Fabp knockout mice

    OpenAIRE

    Xie, Yan; Fung, Ho Yee Joyce; Newberry, Elizabeth P.; Kennedy, Susan,; Luo, Jianyang; Crooke, Rosanne M.; Graham, Mark J.; Davidson, Nicholas O.

    2014-01-01

    Previous studies demonstrated that L-Fabp KO mice are more susceptible to lithogenic diet (LD)-induced gallstones because of altered hepatic cholesterol metabolism and increased canalicular cholesterol secretion. Other studies demonstrated that liver-specific deletion of microsomal triglyceride transfer protein (Mttp-LKO) reduced LD-induced gallstone formation by increasing biliary phospholipid secretion. Here we show that mice with combined deletion (i.e., DKO mice) are protected from LD-ind...

  3. Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy.

    Science.gov (United States)

    Volmering, Elisa; Niehusmann, Pitt; Peeva, Viktoriya; Grote, Alexander; Zsurka, Gábor; Altmüller, Janine; Nürnberg, Peter; Becker, Albert J; Schoch, Susanne; Elger, Christian E; Kunz, Wolfram S

    2016-08-01

    Accumulation of mitochondrial DNA (mtDNA) deletions has been proposed to be responsible for the presence of respiratory-deficient neurons in several CNS diseases. Deletions are thought to originate from double-strand breaks due to attack of reactive oxygen species (ROS) of putative inflammatory origin. In epileptogenesis, emerging evidence points to chronic inflammation as an important feature. Here we aimed to analyze the potential association of inflammation and mtDNA deletions in the hippocampal tissue of patients with mesial temporal lobe epilepsy (mTLE) and hippocampal sclerosis (HS). Hippocampal and parahippocampal tissue samples from 74 patients with drug-refractory mTLE served for mtDNA analysis by multiplex PCR as well as long-range PCR, single-molecule PCR and ultra-deep sequencing of mtDNA in selected samples. Patients were sub-classified according to neuropathological findings. Semi-quantitative assessment of neuronal cell loss was performed in the hippocampal regions CA1-CA4. Inflammatory infiltrates were quantified by cell counts in the CA1, CA3 and CA4 regions from well preserved hippocampal samples (n = 33). Samples with HS showed a significantly increased frequency of a 7436-bp mtDNA deletion (p T transversions compared to mTLE patients with different histopathology. Interestingly, the number of T-lymphocytes in the hippocampal CA1, CA3 and CA4 regions was, similar to the 7436-bp mtDNA deletion, significantly increased in samples with HS compared to other subgroups. Our findings show a coincidence of HS, increased somatic G>T transversions, the presence of a specific mtDNA deletion, and increased inflammatory infiltrates. These results support the hypothesis that chronic inflammation leads to mitochondrial dysfunction by ROS-mediated mtDNA mutagenesis which promotes epileptogenesis and neuronal cell loss in patients with mTLE and HS. PMID:26993140

  4. EGb761对NMB诱导的小鼠妊娠子宫平滑肌细胞中NF-κB活性和 IL-6表达的影响%The effects of EGb761 on the activity of NF-κBp65 and expression of IL-6 induced by NMB in pregnant primary cultured smooth muscle cells

    Institute of Scientific and Technical Information of China (English)

    张卫社; 谢志萍; 吴梅婷; 费奎琳; 梁清华

    2012-01-01

    Aim To investigate the effects of Ginkgo biloba extract 761 (EGb761) on the activity of nuclear factor κB p65 (NF-κBp65) and expression of interleu-kin-6 (IL-6) induced by Neuromedin B(NMB) in primary cultured smooth muscle cells from the term. Methods The primary cultured smooth muscle cells with positive expression of NMB receptor (NMBR) from the term were prepared. The combination of NMBR and NF-κBp65 RNA interference (RNAi), real time PCR and Phosphorylation ELISA methods were used to study the effects of EGb761 on the activity of NF-κBp65 and expression of IL-6 induced by NMB in smooth muscle cells. Results The NF-κBp65 DNA binding activity was significantly lower in EGb761 group with high concentration (100 mg · L-1) than that in control group and low dose concentration group (P<0.01). However, there were not differencescompared low or middle concentration groups with control group. The pretreated with high concentration of EGb761 could significantly reduce NF-κBp65 activity and IL-6 expression induced by NMB in pregnant smooth muscle cells (P < 0. 01), and these changes were significantly correlated (r = 0. 892, P <0. 01). Besides, the inhibiting role of EGb761 could be blocked by NMBR and NF-κB RNAi, respectively. Moreover, the blocking efficiency of two genes knockdown showed no significant difference. Conclusion EGb761 can inhibit NF-κBp65 activity and expression of IL-6 via NMBR pathway in primary cultured smooth muscle cells from the term.%目的 探讨银杏叶提取物EGb761对神经调节素B(Neuromedin B,NMB)诱导的分娩期小鼠子宫平滑肌细胞中NF-κB活性和 IL-6表达的影响.方法 应用原代培养的、NMB受体(Neuromedin B receptor,NMBR)表达阳性的分娩期小鼠子宫平滑肌细胞,联合NMBR和核因子κB (Nuclear factor kappa B,NF-κB) p65的 RNA干扰技术、real-time PCR和磷酸化ELISA等方法,确定EGb761对NMB诱导的小鼠子宫平滑肌细胞中NF-κB和 IL-6表达的影响.结果 高浓度的 EGb761

  5. Loss of full length CtBP1 expression enhances the invasive potential of human melanoma

    International Nuclear Information System (INIS)

    The C-terminal binding protein 1 (CtBP1) is a known co-repressor of gene transcription. We recently revealed that CtBP1 expression is lost in melanoma cells and melanoma inhibitory activity (MIA) expression is subsequently increased. The present study was performed to evaluate a more general role of CtBP1 in human melanoma and identify further CtBP1-regulated target genes. Sequence analysis and expression profile of CtBP1 in melanoma cell lines were done by PCR. Boyden Chamber assays and co-immunoprecipitation were performed to investigate the functional role of CtBP1. Gene expression analysis and micro array data were used to define target genes. Interestingly, we detected an alternative splice product of CtBP1 with unknown function whose expression is induced at reduction of full length CtBP1. Overexpression of full length CtBP1 in melanoma cells had no effect on cell proliferation but did influence cell migration and invasiveness. To understand the effect of CtBP1 we identified putative LEF/TCF target genes found to be strongly expressed in melanoma using DNA microarray analysis. We focused on fourteen genes not previously associated with melanoma. Detailed analysis revealed that most of these were known to be involved in tumor metastasis. Eleven genes had expression profiles associated with melanoma cell invasiveness. In summary, this study revealed that reduction of CtBP1 expression is correlated with migratory, invasive potential of melanoma cells

  6. Identification and characterization of a novel calcyclin binding protein (CacyBP) gene from Apis cerana cerana.

    Science.gov (United States)

    Yu, Xiaoli; Lu, Wenjing; Sun, Rujiang; Guo, Xingqi; Xu, Baohua

    2012-08-01

    Calcyclin binding protein (CacyBP), a homolog of Sgt1, was shown to interact with some S100 proteins, Skp1, tubulin, actin and ERK1/2 kinases. Studies have also shown that CacyBP is a neuronal protein in mammals. Limited information is available regarding the properties and functions of CacyBP in insects. Here, we cloned and characterized a novel CacyBP gene, named AccCacyBP, from honeybee (Apis cerana cerana). Bioinformatic analysis indicated that AccCacyBP was highly conserved and closely related to the CacyBP of other insects. Promoter analysis revealed a number of putative tissue, development and stress-related transcription factor-binding sites. RT-qPCR demonstrated that AccCacyBP was expressed at all of the stages of development, especially in the brains of honeybees. Moreover, immunohistochemistry analysis showed the presence of AccCacyBP in the brain. The transcript levels of AccCacyBP in the brains of honeybees were developmentally induced and upregulated by exposure to oxidative stresses, including UV-light, acetamiprid and HgCl(2). This study demonstrates that the CacyBP gene in honeybees may be a neuronal protein involved in the developmental regulation and the stress-response of the brain of honeybees. PMID:22539186

  7. Electronic states of BP, BP +, BP -, B 2P 2, B2P2- and B2P2+

    Science.gov (United States)

    Linguerri, Roberto; Komiha, Najia; Oswald, Rainer; Mitrushchenkov, Alexander; Rosmus, Pavel

    2008-05-01

    Using augmented sextuple zeta basis sets and internally contracted multireference configuration interaction (MRCI) wavefunctions, potential energy, electric dipole and transition moments have been computed for the X 3Π, a 1Σ +, b 1Π and A 3Σ - states of BP, X 2Σ + and A 2Π states of BP - and X 4Σ - and A 4Π states of BP +. From these data spectroscopic constants, radiative transition probabilities and photoelectron spectra of BP - and BP have been evaluated. The non-vanishing spin-orbit coupling elements between the four low lying triplet and singlet states of the neutral BP have also been calculated from MRCI wavefunctions. The treatment of the corresponding perturbations in the manifold of dense rovibrational states in the three lowest states would require a precise knowledge of the electronic excitation energies. Our best singlet-triplet separations (X-a) are calculated to be 2412 cm -1 (MRCI) and 2482 cm -1 (restricted coupled cluster with perturbative triples (RCCSD(T))) with an estimated error bound of about ±200 cm -1. All three states have long radiative lifetimes with cascading among the rovibrational levels of different states. The ionization energy IE e of BP is calculated to be 9.22 eV (MRCI) and 9.48 eV (RCCSD(T)), the electron affinity EA e 2.51 eV (MRCI) and 2.74 eV (RCCSD(T)). The photoelectron spectra of BP and BP - have been obtained from the Franck-Condon factors of the MRCI potentials. For the UV spectroscopy the dipole allowed radiative transition probabilities are given for A 3Σ - ↔ X 3Π, b 1Π ↔ a 1Σ + of BP, A 2Π ↔ X 2Σ + of BP - and A 4Π ↔ X 4Σ - of BP +. The ionization energy IE e of B 2P 2 of 8.71 eV and the electron affinity EA e of 2.34 eV have been calculated by the RCCSD(T)/aVQZ approach. Also the harmonic vibrational wavenumbers for the electronic ground states of the ions B2P2+ and B2P2- are given.

  8. Dissecting the phenotypes of Dravet syndrome by gene deletion.

    Science.gov (United States)

    Rubinstein, Moran; Han, Sung; Tai, Chao; Westenbroek, Ruth E; Hunker, Avery; Scheuer, Todd; Catterall, William A

    2015-08-01

    Neurological and psychiatric syndromes often have multiple disease traits, yet it is unknown how such multi-faceted deficits arise from single mutations. Haploinsufficiency of the voltage-gated sodium channel Nav1.1 causes Dravet syndrome, an intractable childhood-onset epilepsy with hyperactivity, cognitive deficit, autistic-like behaviours, and premature death. Deletion of Nav1.1 channels selectively impairs excitability of GABAergic interneurons. We studied mice having selective deletion of Nav1.1 in parvalbumin- or somatostatin-expressing interneurons. In brain slices, these deletions cause increased threshold for action potential generation, impaired action potential firing in trains, and reduced amplification of postsynaptic potentials in those interneurons. Selective deletion of Nav1.1 in parvalbumin- or somatostatin-expressing interneurons increases susceptibility to thermally-induced seizures, which are strikingly prolonged when Nav1.1 is deleted in both interneuron types. Mice with global haploinsufficiency of Nav1.1 display autistic-like behaviours, hyperactivity and cognitive impairment. Haploinsufficiency of Nav1.1 in parvalbumin-expressing interneurons causes autistic-like behaviours, but not hyperactivity, whereas haploinsufficiency in somatostatin-expressing interneurons causes hyperactivity without autistic-like behaviours. Heterozygous deletion in both interneuron types is required to impair long-term spatial memory in context-dependent fear conditioning, without affecting short-term spatial learning or memory. Thus, the multi-faceted phenotypes of Dravet syndrome can be genetically dissected, revealing synergy in causing epilepsy, premature death and deficits in long-term spatial memory, but interneuron-specific effects on hyperactivity and autistic-like behaviours. These results show that multiple disease traits can arise from similar functional deficits in specific interneuron types. PMID:26017580

  9. Amino acid deprivation induces CREBZF/Zhangfei expression via an AARE-like element in the promoter.

    Science.gov (United States)

    Zhang, Yani; Jin, Yaping; Williams, Tegan A; Burtenshaw, Sally M; Martyn, Amanda C; Lu, Rui

    2010-01-15

    CREBZF (also called ZF or Zhangfei) is a basic region-leucine zipper transcription factor that has been implicated in the herpesvirus infection cycle and related cellular processes. Since ATF4 is known to play a key role in cellular responses to various ER stresses as well as amino acid deprivation, we sought to examine the potential involvement of CREBZF in the amino acid response (AAR). We found that the CREBZF protein was induced by amino acid deprivation in the canine MDCK cells. We subsequently cloned a canine CREBZF promoter region (-1767bp to +1bp) that responds to amino acid limitation. Using deletion mapping and site-directed mutagenesis, we identified a 9-bp sequence 5'-ATTCACTCA-3' in the promoter (-1227 to -1219), deletion of which resulted in a complete loss of inducibility by amino acid deprivation. This sequence is similar to the known amino acid response elements (AAREs) found in other AAR-inducible genes, such as CHOP (C/EBP homologous protein, also known as GADD153). These results suggest that CREBZF may be an amino acid stress sensor. Considering the AARE-like sequence found in CREBZF and other similarities between CREBZF and CHOP, we postulate that CREBZF and CHOP may be two sensors that regulate different yet related signaling pathways governing the AAR. PMID:20026304

  10. Integration of BpMADS4 on various linkage groups improves the utilization of the rapid cycle breeding system in apple.

    Science.gov (United States)

    Weigl, Kathleen; Wenzel, Stephanie; Flachowsky, Henryk; Peil, Andreas; Hanke, Magda-Viola

    2015-02-01

    Rapid cycle breeding in apple is a new approach for the rapid introgression of agronomically relevant traits (e.g. disease resistances) from wild apple species into domestic apple cultivars (Malus × domestica Borkh.). This technique drastically shortens the long-lasting juvenile phase of apple. The utilization of early-flowering apple lines overexpressing the BpMADS4 gene of the European silver birch (Betula pendula Roth.) in hybridization resulted in one breeding cycle per year. Aiming for the selection of non-transgenic null segregants at the end of the breeding process, the flower-inducing transgene and the gene of interest (e.g. resistance gene) that will be introgressed by hybridization need to be located on different chromosomes. To improve the flexibility of the existing approach in apple, this study was focused on the development and characterization of eleven additional BpMADS4 overexpressing lines of four different apple cultivars. In nine lines, the flowering gene was mapped to different linkage groups. The differences in introgressed T-DNA sequences and plant genome deletions post-transformation highlighted the unique molecular character of each line. However, transgenic lines demonstrated no significant differences in flower organ development and pollen functionality compared with non-transgenic plants. Hybridization studies using pollen from the fire blight-resistant wild species accession Malus fusca MAL0045 and the apple scab-resistant cultivar 'Regia' indicated that BpMADS4 introgression had no significant effect on the breeding value of each transgenic line. PMID:25370729

  11. Improving the MVA vaccine potential by deleting the viral gene coding for the IL-18 binding protein.

    Directory of Open Access Journals (Sweden)

    Juliana Falivene

    Full Text Available BACKGROUND: Modified Vaccinia Ankara (MVA is an attenuated strain of Vaccinia virus (VACV currently employed in many clinical trials against HIV/AIDS and other diseases. MVA still retains genes involved in host immune response evasion, enabling its optimization by removing some of them. The aim of this study was to evaluate cellular immune responses (CIR induced by an IL-18 binding protein gene (C12L deleted vector (MVAΔC12L. METHODOLOGY/PRINCIPAL FINDINGS: BALB/c and C57BL/6 mice were immunized with different doses of MVAΔC12L or MVA wild type (MVAwt, then CIR to VACV epitopes in immunogenic proteins were evaluated in spleen and draining lymph nodes at acute and memory phases (7 and 40 days post-immunization respectively. Compared with parental MVAwt, MVAΔC12L immunization induced a significant increase of two to three-fold in CD8(+ and CD4(+ T-cell responses to different VACV epitopes, with increased percentage of anti-VACV cytotoxic CD8(+ T-cells (CD107a/b(+ during the acute phase of the response. Importantly, the immunogenicity enhancement was also observed after MVAΔC12L inoculation with different viral doses and by distinct routes (systemic and mucosal. Potentiation of MVA's CIR was also observed during the memory phase, in correlation with a higher protection against an intranasal challenge with VACV WR. Of note, we could also show a significant increase in the CIR against HIV antigens such as Env, Gag, Pol and Nef from different subtypes expressed from two recombinants of MVAΔC12L during heterologous DNA prime/MVA boost vaccination regimens. CONCLUSIONS/SIGNIFICANCE: This study demonstrates the relevance of IL-18 bp contribution in the immune response evasion during MVA infection. Our findings clearly show that the deletion of the viral IL-18 bp gene is an effective approach to increase MVA vaccine efficacy, as immunogenicity improvements were observed against vector antigens and more importantly to HIV antigens.

  12. Complicated biallelic inactivation of Pten in radiation-induced mouse thymic lymphomas

    International Nuclear Information System (INIS)

    Inactivation of the phosphatase and tensin homolog gene (Pten) occurs via multiple tissue-dependent mechanisms including epigenetic silencing, point mutations, insertions, and deletions. Although frequent loss of heterozygosity around the Pten locus and plausible involvement of epigenetic silencing have been reported in radiation-induced thymic lymphomas, the proportion of lymphomas with inactivated Pten and the spectrum of causal aberrations have not been extensively characterized. Here, we assessed the mode of Pten inactivation by comprehensive analysis of the expression and alteration of Pten in 23 radiation-induced thymic lymphomas developed in B6C3F1 mice. We found no evidence for methylation-associated silencing of Pten; rather, complex structural abnormalities comprised of missense and nonsense mutations, 1- and 3-bp insertions, and focal deletions were identified in 8 of 23 lymphomas (35%). Sequencing of deletion breakpoints suggested that aberrant V(D)J recombination and microhomology-mediated rearrangement were responsible for the focal deletions. Seven of the 8 lymphomas had biallelic alterations, and 4 of them did not express Pten protein. These Pten aberrations coincided with downstream Akt phosphorylation. In conclusion, we demonstrate that Pten inactivation is frequently biallelic and is caused by a variety of structural abnormalities (rather than by epigenetic silencing) and is involved in radiation-induced lymphomagenesis.

  13. Effect of 5 '-deletion of Arabi dopsis profilin2 promoter on its vascular specific expression

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Based on the published sequence of profilin2promoter of Arabidopsis thaliana, a full-length promoter ments with length of 1380, 1153, 969 and 597 bp were then fused with gus (uidA) gene respectively. Constructed plant expression vectors were individually transferred into Kalan choe laciniata and transgenic plants regenerated. GUS his tochemical assay confirmed that the full-length promoter Pfnl.7 was vascular-specific. Deletion assays showed that profilin2 promoter could be divided into three parts. Dele tion of fragment 1 ( -1667--1380 bp) resulted in constitu tive expression, suggesting that element(s) responsible for vascular-specific expression might exist in this region. Frag ment 2 located at -1153 - -597 bp strongly inhibited gus gene expression. Fragment 3 ( -597 - -1 bp) is considered as a basic domain of profilin2.

  14. EXPRESSION AND DELETION ANALYSIS OF EcoRII ENDONUCLEASE AND METHYLASE GENE

    Institute of Scientific and Technical Information of China (English)

    刘金毅; 赵晓娟; 孟雁; 沈洁; 薛越强; 史顺娣; 蔡有余

    2001-01-01

    Objective. To clone complete EcoRII restriction endonuclease gene (ecoRllR) and methyltransferase gene(ecoRllM) in one ector and to analyze the coordinating expression of this whole R-M system.Methods. Unidirectional deletion subclones were constructed with ExolII. ecoRllR/M genes were preliminari-ly located in the cloned fragment according to the enzyme activities of subclones. Exact deletion sites were deter-mined by sequencing, and transcriptional start sites were determined by S1 mapping.Results. The DNA fragment which was cloned into pBluescript SK + contained intact ecoRIlR gene andecoRllM gene, anc two transcriptional start sites of ecoRllR gene were determined. 132bp to 458bp from 3' endof ecoRllR gene ar.e indispensable to enzyme activities and deletion of 202bp from 3' end of ecoRllM gene madeenzyme lose the capability in DNA protection to resist specific cut with EcoRII endonuclease (EcoRII. R). Dele-tion of the coding ar d flanking sequences of one gene did not affect the expression of the other gene, and the recombi-nants only containing ecoRllR gene appeared to be lethal to dcm+ host.Conclusion. scoRllM gene linking closely to ecoRIIR gene is very important for the existence of the R-M sys-tem in process of evolution, but the key to control EcoRlI R-M order may not exist in transcriptional level .``Liu Jmy,Corresponding author.

  15. Deletion 22q13.3 syndrome

    OpenAIRE

    Phelan Mary C

    2008-01-01

    Abstract The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic forms. Due to lack of clinical recognition and often insufficient laboratory testing, the syndr...

  16. Size unlimited markerless deletions by a transconjugative plasmid-system in Bacillus licheniformis.

    Science.gov (United States)

    Rachinger, Michael; Bauch, Melanie; Strittmatter, Axel; Bongaerts, Johannes; Evers, Stefan; Maurer, Karl-Heinz; Daniel, Rolf; Liebl, Wolfgang; Liesegang, Heiko; Ehrenreich, Armin

    2013-09-20

    Conjugative shuttle vectors of the pKVM series, based on an IncP transfer origin and the pMAD vector with a temperature sensitive replication were constructed to establish a markerless gene deletion protocol for Bacilli without natural competence such as the exoenzyme producer Bacillus licheniformis. The pKVM plasmids can be conjugated to strains of B. licheniformis and B. subtilis. For chromosomal gene deletion, regions flanking the target gene are fused and cloned in a pKVM vector prior to conjugative transfer from Escherichia coli to B. licheniformis. Appropriate markers on the vector backbone allow for the identification of the integration at the target locus and thereafter the vector excision, both events taking place via homologous recombination. The functionality of the deletion system was demonstrated with B. licheniformis by a markerless 939 bp in-frame deletion of the yqfD gene and the deletion of a 31 kbp genomic segment carrying a PBSX-like prophage. PMID:23916947

  17. Regulation of B cell differentiation by the ubiquitin-binding protein TAX1BP1

    Science.gov (United States)

    Matsushita, Nobuko; Suzuki, Midori; Ikebe, Emi; Nagashima, Shun; Inatome, Ryoko; Asano, Kenichi; Tanaka, Masato; Matsushita, Masayuki; Kondo, Eisaku; Iha, Hidekatsu; Yanagi, Shigeru

    2016-01-01

    Tax1-binding protein 1 (TAX1BP1) is a ubiquitin-binding protein that restricts nuclear factor-κB (NF-κB) activation and facilitates the termination of aberrant inflammation. However, its roles in B-cell activation and differentiation are poorly understood. To evaluate the function of TAX1BP1 in B cells, we established TAX1BP1-deficient DT40 B cells that are hyper-responsive to CD40-induced extracellular signal-regulated kinase (ERK) activation signaling, exhibit prolonged and exaggerated ERK phosphorylation and show enhanced B lymphocyte-induced maturation protein 1 (Blimp-1; a transcription factor inducing plasma cell differentiation) expression that is ERK-dependent. Furthermore, TAX1BP1-deficient cells exhibit significantly decreased surface IgM expression and increased IgM secretion. Moreover, TAX1BP1-deficient mice display reduced germinal center formation and antigen-specific antibody production. These findings show that TAX1BP1 restricts ERK activation and Blimp-1 expression and regulates germinal center formation. PMID:27515252

  18. Factor IX[sub Madrid 2]: A deletion/insertion in Facotr IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site

    Energy Technology Data Exchange (ETDEWEB)

    Solera, J. (Unidades de Genetica Molecular, Madrid (Spain)); Magallon, M.; Martin-Villar, J. (Hemofilia Hospital, Madrid (Spain)); Coloma, A. (Departamento deBioquimica de la Facultad de Medicina de la Universidad Autonoma, Madrid (Spain))

    1992-02-01

    DNA from a patient with severe hemophilia B was evaluated by RFLP analysis, producing results which suggested the existence of a partial deletion within the factor IX gene. The deletion was further localized and characterized by PCR amplification and sequencing. The altered allele has a 4,442-bp deletion which removes both the donor splice site located at the 5[prime] end of intron d and the two last coding nucleotides located at the 3[prime] end of exon IV in the normal factor IX gene; this fragment has been inserted in inverted orientation. Two homologous sequences have been discovered at the ends of the deleted DNA fragment.

  19. Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.

    Science.gov (United States)

    Cossée, Mireille; Demeer, Bénédicte; Blanchet, Patricia; Echenne, Bernard; Singh, Deepika; Hagens, Olivier; Antin, Manuela; Finck, Sonja; Vallee, Louis; Dollfus, Hélène; Hegde, Sridevi; Springell, Kelly; Thelma, B K; Woods, Geoffrey; Kalscheuer, Vera; Mandel, Jean-Louis

    2006-04-01

    Mutations in PQBP1 were recently identified in families with syndromic and non-syndromic X-linked mental retardation (XLMR). Clinical features frequently associated with MR were microcephaly and/or short stature. The predominant mutations detected so far affect a stretch of six AG dinucleotides in the polar-amino-acid-rich domain (PRD), causing frameshifts in the fourth coding exon. We searched for PQBP1 exon 4 frameshifts in 57 mentally retarded males in whom initial referral description indicated at least one of the following criteria: microcephaly, short stature, spastic paraplegia or family history compatible with XLMR, and in 772 mentally retarded males not selected for specific clinical features or family history. We identified a novel frameshift mutation (23 bp deletion) in two half-brothers with specific clinical features, and performed prenatal diagnosis in this family. We also found two different 21 bp in-frame deletions (c.334-354del(21 bp) and c.393-413del(21 bp)) in four unrelated probands from various ethnic origins, each deleting one of five copies of an imperfect seven amino-acid repeat. Although such deletions have not been detected in 1180 X chromosomes from European controls, the c. 334-354del(21 bp) was subsequently found in two of 477 Xs from Indian controls. We conclude that pathogenic frameshift mutations in PQBP1 are rare in mentally retarded patients lacking specific associated signs and that the 21 bp in-frame deletions may be non-pathogenic, or alternatively could act subtly on PQBP1 function. This touches upon a common dilemma in XLMR, that is, how to distinguish between mutations and variants that may be non-pathogenic or represent risk factors for cognitive impairment. PMID:16493439

  20. A novel deletion/insertion caused by a replication error in the β-globin gene locus control region.

    Science.gov (United States)

    Joly, Philippe; Lacan, Philippe; Garcia, Caroline; Meley, Roland; Pondarré, Corinne; Francina, Alain

    2011-01-01

    Deletions in the β-globin locus control region (β-LCR) lead to (εγδβ)(0)-thalassemia [(εγδβ)(0)-thal]. In patients suffering from these rare deletions, a normal hemoglobin (Hb), phenotype is found, contrasting with a hematological thalassemic phenotype. Multiplex-ligation probe amplification (MLPA) is an efficient tool to detect β-LCR deletions combined with long-range polymerase chain reaction (PCR) and DNA sequencing to pinpoint deletion breakpoints. We present here a novel 11,155 bp β-LCR deletion found in a French Caucasian patient which removes DNase I hypersensitive site 2 (HS2) to HS4 of the β-LCR. Interestingly, a 197 bp insertion of two inverted sequences issued from the HS2-HS3 inter-region is present and suggests a complex rearrangement during replication. Carriers of this type of thalassemia can be misdiagnosed as an α-thal trait. Consequently, a complete α- and β-globin gene cluster analysis is required to prevent a potentially damaging misdiagnosis in genetic counselling. PMID:21797698

  1. Becker muscular dystrophy in Indian patients: Analysis of dystrophin gene deletion patterns

    Directory of Open Access Journals (Sweden)

    Dastur Rashna

    2008-01-01

    Full Text Available Background: Becker muscular dystrophy (BMD is caused by mutations in the dystrophin gene with variable phenotypes. Becker muscular dystrophy patients have low levels of nearly full-length dystrophin and carry in-frame mutations, which allow partial functioning of the protein. Aim: To study the deletion patterns of BMD and to correlate the same with reading frame rule and different phenotypes. Setting: A tertiary care teaching hospital. Design: This is a prospective hospital-based study. Materials and Methods: Thirty-two exons spanning different "hot spot" regions using Multiplex PCR techniques were studied in 347 patients. Two hundred and twenty-two showed deletions in one or more of the 32 exons. Out of these, 46 diagnosed as BMD patients were analyzed. Results: Forty-six BMD patients showed deletions in both regions of the dystrophin gene. Out of these 89.1% (41/46 were in-frame deletions. Deletions starting with Exon 45 were found in 76.1% (35/46 of the cases. Mutations in the majority of cases i.e. 39/46 (84.8% were seen in 3′ downstream region (Exon 45-55, distal rod domain. Few, i.e. 5/46 (10.8% showed deletions in 5′ upstream region (Exons 3-20, N-terminus and proximal rod domain of the gene, while in 2/46 (4.4% large mutations (>40 bp spanning both regions (Exons 3-55 were detected. Conclusion: This significant gene deletion analysis has been carried out for BMD patients particularly from Western India using 32 exons.

  2. The first Dutch SDHB founder deletion in paraganglioma – pheochromocytoma patients

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    Devilee Peter

    2009-04-01

    Full Text Available Abstract Background Germline mutations of the tumor suppressor genes SDHB, SDHC and SDHD play a major role in hereditary paraganglioma and pheochromocytoma. These three genes encode subunits of succinate dehydrogenase (SDH, the mitochondrial tricarboxylic acid cycle enzyme and complex II component of the electron transport chain. The majority of variants of the SDH genes are missense and nonsense mutations. To date few large deletions of the SDH genes have been described. Methods We carried out gene deletion scanning using MLPA in 126 patients negative for point mutations in the SDH genes. We then proceeded to the molecular characterization of deletions, mapping breakpoints in each patient and used haplotype analysis to determine whether the deletions are due to a mutation hotspot or if a common haplotype indicated a single founder mutation. Results A novel deletion of exon 3 of the SDHB gene was identified in nine apparently unrelated Dutch patients. An identical 7905 bp deletion, c.201-4429_287-933del, was found in all patients, resulting in a frameshift and a predicted truncated protein, p.Cys68HisfsX21. Haplotype analysis demonstrated a common haplotype at the SDHB locus. Index patients presented with pheochromocytoma, extra-adrenal PGL and HN-PGL. A lack of family history was seen in seven of the nine cases. Conclusion The identical exon 3 deletions and common haplotype in nine patients indicates that this mutation is the first Dutch SDHB founder mutation. The predominantly non-familial presentation of these patients strongly suggests reduced penetrance. In this small series HN-PGL occurs as frequently as pheochromocytoma and extra-adrenal PGL.

  3. The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.

    Science.gov (United States)

    Lehtokari, Vilma-Lotta; Greenleaf, Rebecca S; DeChene, Elizabeth T; Kellinsalmi, Mutsumi; Pelin, Katarina; Laing, Nigel G; Beggs, Alan H; Wallgren-Pettersson, Carina

    2009-03-01

    In 2004, Anderson et al. reported a homozygous 2502 bp deletion including exon 55 of the nebulin gene in five Ashkenazi Jewish probands with nemaline myopathy. We determined the occurrence of this deletion in a world-wide series of 355 nemaline myopathy probands with no previously known mutation in other genes and found the mutation in 14 probands, two of whom represented families previously ascertained by Anderson et al. Two of the families were not of known Ashkenazi Jewish descent but they had the haplotype known to segregate with this mutation. In all but two of eight homozygous patients, the clinical picture was more severe than in typical nemaline myopathy. PMID:19232495

  4. The exon 55 deletion in the nebulin gene - one single founder mutation with world-wide occurrence

    OpenAIRE

    Lehtokari, Vilma-Lotta; Greenleaf, Rebecca S.; DeChene, Elizabeth T; Kellinsalmi, Mutsumi; Pelin, Katarina; Laing, Nigel G.; Beggs, Alan H.; Wallgren-Pettersson, Carina

    2009-01-01

    Anderson and co-workers (2004) reported a homozygous 2,502 bp deletion including exon 55 of the nebulin gene in five Ashkenazi Jewish probands with nemaline myopathy (NM) [1]. We determined the occurrence of this deletion in a world-wide series of 355 NM probands with no previously known mutation in other genes and found the mutation in 14 probands. Two of the families were not of known Ashkenazi Jewish descent but they had the haplotype known to segregate with this mutation. In all but two o...

  5. 1p36 deletion syndrome: an update

    Directory of Open Access Journals (Sweden)

    Jordan VK

    2015-08-01

    Full Text Available Valerie K Jordan,1 Hitisha P Zaveri,2 Daryl A Scott1,2 1Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA; 2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA Abstract: Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are the most common terminal deletions in humans. Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies. Although 1p36 deletion syndrome is considered clinically recognizable, there is significant phenotypic variation among affected individuals. This variation is due, at least in part, to the genetic heterogeneity seen in 1p36 deletions which include terminal and interstitial deletions of varying lengths located throughout the 30 Mb of DNA that comprise chromosome 1p36. Array-based copy number variant analysis can easily identify genomic regions of 1p36 that are deleted in an affected individual. However, predicting the phenotype of an individual based solely on the location and extent of their 1p36 deletion remains a challenge since most of the genes that contribute to 1p36-related phenotypes have yet to be identified. In addition, haploinsufficiency of more than one gene may contribute to some phenotypes. In this article, we review recent successes in the effort to map and identify the genes and genomic regions that contribute to specific 1p36-related phenotypes. In particular, we highlight evidence implicating MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B, CASZ1, PDPN, SPEN, ECE1, HSPG2, and LUZP1 in various 1p36 deletion phenotypes. Keywords: chromosome 1p36, chromosome deletion, 1p36 deletion syndrome, monosomy 1p36

  6. Equipment Design for Oxidation of 1BP/2BP Using NO_x

    Institute of Scientific and Technical Information of China (English)

    ZHOU; Xian-ming; CHANG; Shang-wen; LI; Gao-liang; LAN; Tian; LIU; Jin-ping; TANG; Hong-bin; HE; Hui

    2013-01-01

    NOx can Oxidize the reductants in 1BP and 2BP feed of Purex process,and can adjust the oxidation state of plutonium as Pu(Ⅳ)to meet the need of 2AF feed.Using NOx in Purex process can reduce the volumn of solid waste effectively,and attract more and more interest of researchers.In this work the oxidation of reductants in 1BP/2BP feed were investigated in glass column as the same-current mode,in

  7. Expression of the Transcription Factor E4BP4 in Human Basophils

    DEFF Research Database (Denmark)

    Jensen, Bettina Margrethe; Gohr, Maria; Poulsen, Lars Kærgaard

    2014-01-01

    by Alcian blue. RNA was extracted (0.005-0.02 µg RNA from 0.5 - 1 x 106 cells), and the corresponding cDNA analyzed by real-time PCR where E4BP4 expression was calculated as 2-(CT(E4BP4) - CT(β-actin)). E4BP4 protein expression was visualized in basophil lysates (107 cells/ml) by Western blot......Rationale The cytokine IL-3 plays an important role for human basophil development, function and survival. IL-3 is also reported to induce the expression of the transcription factor E4BP4, but it is not known whether E4BP4 is expressed in basophils and influences basophil responsiveness. The aim of...... this study was to determine whether human basophils express E4BP4 and if so, to compare the expression of E4BP4 with basophil histamine release. Methods Buffy coat blood (<6h) was analyzed for anti-IgE mediated histamine release. Basophils were purified by negative selection and purity was determined...

  8. Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3Al) allele produces ehlers-danlos syndrome type IV in the heterozygous offspring

    Energy Technology Data Exchange (ETDEWEB)

    McGookey Milewicz, D.; Witz, A.M.; Byers, P.H. (Univ of Washington, Seattle (United States)); Smith, A.C.M.; Manchester, D.K.; Waldstein, G. (Children' s Hospital, Denver, CO (United States))

    1993-07-01

    Ehlers-Danlos syndrome (EDS) type IV is a dominantly inherited disorder that results from mutation in the type III collagen gene (COL3A1). The authors studied the structure of the COL3A1 gene of an individual with EDS type IV and that of her phenotypically normal parents. The proband was heterozygous for a 2-kb deletion in COL3A1, while her father was mosaic for the same deletion in somatic and germ cells. In fibroblasts from the father, approximately two-fifths of the COL3A1 alleles carried the deletion, but only 10% of the COL3A1 alleles in white blood cells were of the mutant species. The deletion in the mutant allele extended from intron 7 into intron 11. There was a 12-bp direct repeat in intron 7 and intron 11, the latter about 60 bp 5' to the junction. At the breakpoint there was a duplication of 10 bp from intron 11 separated by an insertion of 4 bp contained within the duplicated sequence. The father was mosaic for the deletion so that the gene rearrangement occurred during his early embryonic development prior to lineage allocation. These findings suggest that at least some of the deletions seen in human genes may occur during replication, rather than as a consequence of meiotic crossing-over, and that they thus have a risk for recurrence when observed de novo. 71 refs., 4 figs., 2 tabs.

  9. 78 FR 56679 - Procurement List; Deletions

    Science.gov (United States)

    2013-09-13

    ... 8/2/2013 (78 FR 46927-46928), the Committee for Purchase From People Who Are Blind or Severely... PEOPLE WHO ARE BLIND OR SEVERELY DISABLED Procurement List; Deletions AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Deletions from the Procurement List. SUMMARY:...

  10. The chromosome 9q subtelomere deletion syndrome

    NARCIS (Netherlands)

    Stewart, D.R.; Kleefstra, T.

    2007-01-01

    The chromosome 9q subtelomere deletion syndrome (9qSTDS) is among the first and most common clinically recognizable syndromes to arise from widespread testing by fluorescent in situ hybridization (FISH) of subtelomere deletions. There are about 50 reported cases worldwide. Affected individuals invar

  11. 13Q DELETIONS IN LYMPHOID MALIGNANCIES

    NARCIS (Netherlands)

    HERMANSON, M; GRANDER, D; MERUP, M; WU, XS; HEYMAN, M; RASOOL, O; JULIUSSON, G; GAHRTON, G; DETLOFSSON, R; NIKIFOROVA, N; BUYS, C; SODERHALL, S; YANKOVSKY, N; ZABAROVSKY, E; EINHORN, S

    1995-01-01

    Previous studies have indicated that a candidate tumor suppressor gene resides telomeric of the RB1 gene at 13q14, a region that is commonly deleted in B-cell chronic lymphocytic leukemia (B-CLL). In this study, we have evaluated the frequency and minimal region of overlap for 13q deletions in malig

  12. Telithromycin resistance in Streptococcus pneumoniae is conferred by a deletion in the leader sequence of erm(B) that increases rRNA methylation

    DEFF Research Database (Denmark)

    Wolter, Nicole; Smith, Anthony M; Farrell, David J; Northwood, John Blackman; Douthwaite, Stephen; Klugman, Keith P

    2008-01-01

    A telithromycin-resistant clinical isolate of Streptococcus pneumoniae (strain P1501016) has been found to contain a version of erm(B) that is altered by a 136-bp deletion in the leader sequence. By allele replacement mutagenesis, a second strain of S. pneumoniae (PC13) with a wild-type erm(B) gene...

  13. CacyBP/SIP nuclear translocation regulates p27Kip1 stability in gastric cancer cells

    Science.gov (United States)

    Niu, Ying-Lin; Li, Ya-Jun; Wang, Jing-Bo; Lu, Yuan-Yuan; Liu, Zhen-Xiong; Feng, Shan-Shan; Hu, Jian-Guo; Zhai, Hui-Hong

    2016-01-01

    AIM: To investigate the mechanism of calcyclin binding protein/Siah-1 interacting protein (CacyBP/SIP) nuclear translocation in promoting the proliferation of gastric cancer (GC) cells. METHODS: The effect of CacyBP/SIP nuclear translocation on cell cycle was investigated by cell cycle analysis. Western blot analysis was used to assess the change in expression of cell cycle regulatory proteins and proteasome-mediated degradation of p27Kip1. Co-immunoprecipitation (co-IP) analysis was performed to examine the binding of CacyBP/SIP with Skp1. A CacyBP/SIP truncation mutant which lacked the Skp1 binding site was constructed and fused to a fluorescent protein. Subsequently, the effect on Skp1 binding with the fusion protein was examined by co-IP, while localization of fluorescent fusion protein observed by confocal laser microscopy, and change in p27Kip1 protein expression assessed by Western blot analysis. RESULTS: CacyBP/SIP nuclear translocation induced by gastrin promoted progression of GC cells from G1 phase. However, while CacyBP/SIP nuclear translocation was inhibited using siRNA to suppress CacyBP/SIP expression, cell cycle was clearly inhibited. CacyBP/SIP nuclear translocation significantly decreased the level of cell cycle inhibitor p27Kip1, increased Cyclin E protein expression whereas the levels of Skp1, Skp2, and CDK2 were not affected. Upon inhibition of CacyBP/SIP nuclear translocation, there were no changes in protein levels of p27Kip1 and Cyclin E, while p27Kip1 decrease could be prevented by the proteasome inhibitor MG132. Moreover, CacyBP/SIP was found to bind to Skp1 by immunoprecipitation, an event that was abolished by mutant CacyBP/SIP, which also failed to stimulate p27Kip1 degradation, even though the mutant could still translocate into the nucleus. CONCLUSION: CacyBP/SIP nuclear translocation contributes to the proliferation of GC cells, and CacyBP/SIP exerts this effect, at least in part, by stimulating ubiquitin-mediated degradation of p27

  14. DNA damage foci in mitosis are devoid of 53BP1.

    Science.gov (United States)

    Nelson, Glyn; Buhmann, Matthias; von Zglinicki, Thomas

    2009-10-15

    Nuclear DNA damage foci indicate ongoing DNA damage response, which is the major inducer of cell cycle arrest, cellular senescence and apoptosis. 53BP1 is one central mediator of the DNA damage response and a component of active DNA damage foci. Using an AcGFP-53BP1c fluorescent fusion protein that quantitatively reports DNA damage, we show that the recruitment of 53BP1 into gammaH2A.X-containing DNA damage foci was inhibited at G(2)/M. This suggests a possible mechanism for cells to continue through the G(2) checkpoint with gammaH2A.X-flagged double strand breaks via inhibition of 53BP1-mediated DNA damage signalling. PMID:19806024

  15. Lysis delay and burst shrinkage of coliphage T7 by deletion of terminator Tφ reversed by deletion of early genes.

    Science.gov (United States)

    Nguyen, Huong Minh; Kang, Changwon

    2014-02-01

    Bacteriophage T7 terminator Tϕ is a class I intrinsic terminator coding for an RNA hairpin structure immediately followed by oligo(U), which has been extensively studied in terms of its transcription termination mechanism, but little is known about its physiological or regulatory functions. In this study, using a T7 mutant phage, where a 31-bp segment of Tϕ was deleted from the genome, we discovered that deletion of Tϕ from T7 reduces the phage burst size but delays lysis timing, both of which are disadvantageous for the phage. The burst downsizing could directly result from Tϕ deletion-caused upregulation of gene 17.5, coding for holin, among other Tϕ downstream genes, because infection of gp17.5-overproducing Escherichia coli by wild-type T7 phage showed similar burst downsizing. However, the lysis delay was not associated with cellular levels of holin or lysozyme or with rates of phage adsorption. Instead, when allowed to evolve spontaneously in five independent adaptation experiments, the Tϕ-lacking mutant phage, after 27 or 29 passages, recovered both burst size and lysis time reproducibly by deleting early genes 0.5, 0.6, and 0.7 of class I, among other mutations. Deletion of genes 0.5 to 0.7 from the Tϕ-lacking mutant phage decreased expression of several Tϕ downstream genes to levels similar to that of the wild-type phage. Accordingly, phage T7 lysis timing is associated with cellular levels of Tϕ downstream gene products. This suggests the involvement of unknown factor(s) besides the known lysis proteins, lysozyme and holin, and that Tϕ plays a role of optimizing burst size and lysis time during T7 infection. IMPORTANCE Bacteriophages are bacterium-infecting viruses. After producing numerous progenies inside bacteria, phages lyse bacteria using their lysis protein(s) to get out and start a new infection cycle. Normally, lysis is tightly controlled to ensure phage progenies are maximally produced and released at an optimal time. Here, we have

  16. AcEST: BP917781 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_D04 511 Adiantum capillus-veneris mRNA. clone: YMU001_000105_D04. BP917781 - Show BP9177...is mRNA. clone: YMU001_000105_D04. Accession BP917781 Tissue type prothallium Developmental stage - Contig I... new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177... programs, Nucleic Acids Res. 25:3389-3402. Query= BP917781|Adiantum capillus-ven

  17. AcEST: BP921101 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000145_F04 489 Adiantum capillus-veneris mRNA. clone: YMU001_000145_F04. BP921101 - Show BP921101...is mRNA. clone: YMU001_000145_F04. Accession BP921101 Tissue type prothallium Developmental stage - Contig I...se search programs, Nucleic Acids Res. 25:3389-3402. Query= BP921101|Adiantum cap... protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP921101

  18. Dystrophin gene deletions in South Indian Duchenne muscular dystrophy patients.

    OpenAIRE

    Mallikarjuna Rao G; Hussain T.; Geetha Devi N; Jain S; Chandak G; Ananda Raj M

    2003-01-01

    66 unrelated patients from Southern India with Duchenne Muscular Dystrophy (DMD) were studied for intragenic deletion in 18 exons and Pm region of the DMD gene using multiplex PCR. Of these 41 (62.1%) showed intragenic deletions. 78% of the deletions were located at the distal hotspot region (44-55 exons) and 22% of the deletions were located at the proximal region (exon 2-19). Exon 50 is most frequently deleted. Deletions in isolated cases were significantly more compare...

  19. 2000 Johnston Site 1B-P

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Underwater Site 1B-P was established at Johnston Atoll by Dr. James Maragos, U.S. Fish & Wildlife Service, on June 29, 2000. With a start point (meter 0) at...

  20. 2000 Johnston Site 3B-P

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Underwater Site 3B-P was established at Johnston Atoll by Dr. James Maragos, U.S. Fish & Wildlife Service, on July 3, 2000. With a start point (meter 0) at...

  1. 2000 Johnston Site 2B-P

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Underwater Site 2B-P was established at Johnston Atoll by Dr. James Maragos, U.S. Fish & Wildlife Service, on June 30, 2000. With a start point (meter 0) at...

  2. A chloroplast DNA deletion located in RNA polymerase gene rpoC2 in CMS lines of sorghum.

    Science.gov (United States)

    Chen, Z; Muthukrishnan, S; Liang, G H; Schertz, K F; Hart, G E

    1993-01-01

    Fertile lines of sorghum (Sorghum bicolor) were shown to differ from cytoplasmic male sterile (CMS) lines by the presence of a 3.8 kb HindIII chloroplast DNA fragment in the former and a smaller (3.7 kb) fragment in the latter. DNA/DNA hybridization studies showed that these two fragments are homologous. Fertile plants from S. versicolor, S. almum, S. halepense, and Sorghastrum nutans (Yellow Indiangrass) also have the 3.8 kb fragment, and CMS lines studied containing A1, A2 and A3 cytoplasms have the 3.7 kb fragment. The size difference between the two fragments was localized to a 1.0 kb SacI-HindIII fragment by restriction mapping. A 165 bp deletion, which is flanked by a 51 bp tandem repeat, was identified in the CMS lines by sequencing the clones. Comparison of the two sequences with those from maize, rice, tobacco, spinach, pea, and liverwort revealed that the deleted sequence is located in the middle of the RNA polymerase beta" subunit encoded by the gene rpoC2. The amino acid sequence deleted in the CMS lines is in a monocot-specific region which contains two protein motifs that are characteristic of several transcriptional activation factors, namely, a leucine zipper motif and an acidic domain capable of forming an amphipathic alpha-helix. Further studies designed to determine whether or not the deletion is involved in CMS of sorghum are underway. PMID:8437572

  3. Genetics Home Reference: 18q deletion syndrome

    Science.gov (United States)

    ... to severe, but some affected individuals have normal intelligence and development. Seizures, hyperactivity, aggression, and autistic behaviors ... into two types : individuals with deletions near the end of the long arm of chromosome 18 are ...

  4. Tyrosine phosphorylation of 3BP2 is indispensable for the interaction with VAV3 in chicken DT40 cells

    Energy Technology Data Exchange (ETDEWEB)

    Chihara, Kazuyasu [Division of Genome Science and Microbiology, Department of Pathological Sciences, Faculty of Medical Sciences, Fukui 910-1193 (Japan); Organization for Life Science Advancement Programs, University of Fukui, Fukui 910-1193 (Japan); Kimura, Yukihiro [Division of Genome Science and Microbiology, Department of Pathological Sciences, Faculty of Medical Sciences, Fukui 910-1193 (Japan); Division of Otorhinolaryngology Head and Neck Surgery, Department of Sensory and Locomotor Medicine, Faculty of Medical Sciences, Fukui 910-1193 (Japan); Honjoh, Chisato [Division of Genome Science and Microbiology, Department of Pathological Sciences, Faculty of Medical Sciences, Fukui 910-1193 (Japan); Third Department of Internal Medicine, Faculty of Medical Sciences, Fukui 910-1193 (Japan); Yamauchi, Shota; Takeuchi, Kenji [Division of Genome Science and Microbiology, Department of Pathological Sciences, Faculty of Medical Sciences, Fukui 910-1193 (Japan); Organization for Life Science Advancement Programs, University of Fukui, Fukui 910-1193 (Japan); Sada, Kiyonao, E-mail: ksada@u-fukui.ac.jp [Division of Genome Science and Microbiology, Department of Pathological Sciences, Faculty of Medical Sciences, Fukui 910-1193 (Japan); Organization for Life Science Advancement Programs, University of Fukui, Fukui 910-1193 (Japan)

    2014-03-10

    Adaptor protein c-Abl SH3 domain-binding protein-2 (3BP2) is known to play regulatory roles in immunoreceptor-mediated signal transduction. We have previously demonstrated that Tyr{sup 174}, Tyr{sup 183} and Tyr{sup 446} in mouse 3BP2 are predominantly phosphorylated by Syk, and the phosphorylation of Tyr{sup 183} and the Src homology 2 (SH2) domain of mouse 3BP2 are critical for B cell receptor (BCR)-induced activation of nuclear factor of activated T cells (NFAT) in human B cells. In this report, we have shown that Syk, but not Abl family protein-tyrosine kinases, is critical for BCR-mediated tyrosine phosphorylation of 3BP2 in chicken DT40 cells. Mutational analysis showed that Tyr{sup 174}, Tyr{sup 183} and Tyr{sup 426} of chicken 3BP2 are the major phosphorylation sites by Syk and the SH2 domain of 3BP2 is critical for tyrosine phosphorylation. In addition, phosphorylation of Tyr{sup 426} is required for the inducible interaction with the SH2 domain of Vav3. Moreover, the expression of the mutant form of 3BP2 in which Tyr{sup 426} was substituted to Phe resulted in the reduction in BCR-mediated Rac1 activation, when compared with the case of wild-type. Altogether, these data suggest that 3BP2 is involved in the activation of Rac1 through the regulation of Vav3 by Syk-dependent phosphorylation of Tyr{sup 426} following BCR stimulation. - Highlights: • 3BP2 is phosphorylated by Syk, but not Abl family kinases in BCR signaling. • Tyr183 and Tyr426 in chicken 3BP2 are the major phosphorylation sites by Syk. • The SH2 domain of 3BP2 is critical for tyrosine phosphorylation of 3BP2. • Phosphorylation of Tyr426 in 3BP2 is required for the inducible binding with Vav3. • 3BP2 is involved in the regulation of BCR-mediated Rac1 activation.

  5. Tyrosine phosphorylation of 3BP2 is indispensable for the interaction with VAV3 in chicken DT40 cells

    International Nuclear Information System (INIS)

    Adaptor protein c-Abl SH3 domain-binding protein-2 (3BP2) is known to play regulatory roles in immunoreceptor-mediated signal transduction. We have previously demonstrated that Tyr174, Tyr183 and Tyr446 in mouse 3BP2 are predominantly phosphorylated by Syk, and the phosphorylation of Tyr183 and the Src homology 2 (SH2) domain of mouse 3BP2 are critical for B cell receptor (BCR)-induced activation of nuclear factor of activated T cells (NFAT) in human B cells. In this report, we have shown that Syk, but not Abl family protein-tyrosine kinases, is critical for BCR-mediated tyrosine phosphorylation of 3BP2 in chicken DT40 cells. Mutational analysis showed that Tyr174, Tyr183 and Tyr426 of chicken 3BP2 are the major phosphorylation sites by Syk and the SH2 domain of 3BP2 is critical for tyrosine phosphorylation. In addition, phosphorylation of Tyr426 is required for the inducible interaction with the SH2 domain of Vav3. Moreover, the expression of the mutant form of 3BP2 in which Tyr426 was substituted to Phe resulted in the reduction in BCR-mediated Rac1 activation, when compared with the case of wild-type. Altogether, these data suggest that 3BP2 is involved in the activation of Rac1 through the regulation of Vav3 by Syk-dependent phosphorylation of Tyr426 following BCR stimulation. - Highlights: • 3BP2 is phosphorylated by Syk, but not Abl family kinases in BCR signaling. • Tyr183 and Tyr426 in chicken 3BP2 are the major phosphorylation sites by Syk. • The SH2 domain of 3BP2 is critical for tyrosine phosphorylation of 3BP2. • Phosphorylation of Tyr426 in 3BP2 is required for the inducible binding with Vav3. • 3BP2 is involved in the regulation of BCR-mediated Rac1 activation

  6. Translation control during prolonged mTORC1 inhibition mediated by 4E-BP3

    Science.gov (United States)

    Tsukumo, Yoshinori; Alain, Tommy; Fonseca, Bruno D.; Nadon, Robert; Sonenberg, Nahum

    2016-01-01

    Targeting mTORC1 is a highly promising strategy in cancer therapy. Suppression of mTORC1 activity leads to rapid dephosphorylation of eIF4E-binding proteins (4E-BP1–3) and subsequent inhibition of mRNA translation. However, how the different 4E-BPs affect translation during prolonged use of mTOR inhibitors is not known. Here we show that the expression of 4E-BP3, but not that of 4E-BP1 or 4E-BP2, is transcriptionally induced during prolonged mTORC1 inhibition in vitro and in vivo. Mechanistically, our data reveal that 4E-BP3 expression is controlled by the transcription factor TFE3 through a cis-regulatory element in the EIF4EBP3 gene promoter. CRISPR/Cas9-mediated EIF4EBP3 gene disruption in human cancer cells mitigated the inhibition of translation and proliferation caused by prolonged treatment with mTOR inhibitors. Our findings show that 4E-BP3 is an important effector of mTORC1 and a robust predictive biomarker of therapeutic response to prolonged treatment with mTOR-targeting drugs in cancer. PMID:27319316

  7. Translation control during prolonged mTORC1 inhibition mediated by 4E-BP3.

    Science.gov (United States)

    Tsukumo, Yoshinori; Alain, Tommy; Fonseca, Bruno D; Nadon, Robert; Sonenberg, Nahum

    2016-01-01

    Targeting mTORC1 is a highly promising strategy in cancer therapy. Suppression of mTORC1 activity leads to rapid dephosphorylation of eIF4E-binding proteins (4E-BP1-3) and subsequent inhibition of mRNA translation. However, how the different 4E-BPs affect translation during prolonged use of mTOR inhibitors is not known. Here we show that the expression of 4E-BP3, but not that of 4E-BP1 or 4E-BP2, is transcriptionally induced during prolonged mTORC1 inhibition in vitro and in vivo. Mechanistically, our data reveal that 4E-BP3 expression is controlled by the transcription factor TFE3 through a cis-regulatory element in the EIF4EBP3 gene promoter. CRISPR/Cas9-mediated EIF4EBP3 gene disruption in human cancer cells mitigated the inhibition of translation and proliferation caused by prolonged treatment with mTOR inhibitors. Our findings show that 4E-BP3 is an important effector of mTORC1 and a robust predictive biomarker of therapeutic response to prolonged treatment with mTOR-targeting drugs in cancer. PMID:27319316

  8. CtBP1 associates metabolic syndrome and breast carcinogenesis targeting multiple miRNAs

    Science.gov (United States)

    De Luca, Paola; Dalton, Guillermo N.; Scalise, Georgina D.; Moiola, Cristian P.; Porretti, Juliana; Massillo, Cintia; Kordon, Edith; Gardner, Kevin; Zalazar, Florencia; Flumian, Carolina; Todaro, Laura; Vazquez, Elba S.; Meiss, Roberto; De Siervi, Adriana

    2016-01-01

    Metabolic syndrome (MeS) has been identified as a risk factor for breast cancer. C-terminal binding protein 1 (CtBP1) is a co-repressor of tumor suppressor genes that is activated by low NAD+/NADH ratio. High fat diet (HFD) increases intracellular NADH. We investigated the effect of CtBP1 hyperactivation by HFD intake on mouse breast carcinogenesis. We generated a MeS-like disease in female mice by chronically feeding animals with HFD. MeS increased postnatal mammary gland development and generated prominent duct patterns with markedly increased CtBP1 and Cyclin D1 expression. CtBP1 induced breast cancer cells proliferation. Serum from animals with MeS enriched the stem-like/progenitor cell population from breast cancer cells. CtBP1 increased breast tumor growth in MeS mice modulating multiple genes and miRNA expression implicated in cell proliferation, progenitor cells phenotype, epithelial to mesenchymal transition, mammary development and cell communication in the xenografts. These results define a novel function for CtBP1 in breast carcinogenesis. PMID:26933806

  9. ATM-dependent phosphorylation of 53BP1 in response to genomic stress in oxic and hypoxic cells

    International Nuclear Information System (INIS)

    The ATM kinase is activated by chromatin modification following exogenous and endogenous DSBs or cell stress, including acute anoxia. The p53 binding protein 1 (53BP1) contains multiple ATM-consensus phosphorylation sites in its N- and C-termini and may therefore be a distal read-out of ATM function. We have examined the cellular activation of these phosphorylation sites for the first time in situ following anoxic/hypoxic stress and IR-induced exogenous DSBs. We show that multiple residues of 53BP1 are phosphorylated and that these phosphoforms form discrete nuclear foci following IR or during DNA replication as exogenous or endogenous DNA double strand breaks (DSBs), respectively. Novel data pertaining to the phosphorylation of 53BP1Ser25in situ supports its dependency on the ATM kinase; but this occurs independently of p53 function. We show that 53BP1Ser25 is activated specifically in S-phase cells during anoxia in an ATM-dependent manner. Exogenous DSBs form discrete IR-induced foci whereas oxygen stress induced non-localized 53BP1Ser25 activation. Our in vitro data are supported by irradiated xenograft studies in vivo whereby 53BP1Ser25 phosphorylation does not occur in sub-regions positive for the hypoxia marker EF5. We propose a model whereby DSBs induce chromatin modification at sites of DNA damage which are tracked by the ATM substrates γ H2AX and 53BP1Ser25 in a mechanism distinct from p53-mediated cell cycle arrest. Together this work indicates 53BP1Ser25, and possibly other 53BP1 phosphoforms, as a bona fide DSB-biomarkers for surveying ongoing DNA-damage related signaling in oxic and hypoxic cells during clinical radiotherapy.

  10. Role of 53BP1 in the regulation of DNA double-strand break repair pathway choice.

    Science.gov (United States)

    Gupta, Arun; Hunt, Clayton R; Chakraborty, Sharmistha; Pandita, Raj K; Yordy, John; Ramnarain, Deepti B; Horikoshi, Nobuo; Pandita, Tej K

    2014-01-01

    The p53-binding protein 1 (53BP1) is a well-known DNA damage response (DDR) factor, which is recruited to nuclear structures at the site of DNA damage and forms readily visualized ionizing radiation (IR) induced foci. Depletion of 53BP1 results in cell cycle arrest in G2/M phase as well as genomic instability in human as well as mouse cells. Within the DNA damage response mechanism, 53BP1 is classified as an adaptor/mediator, required for processing of the DNA damage response signal and as a platform for recruitment of other repair factors. More recently, specific 53BP1 contributions to DSB repair pathway choice have been recognized and are being characterized. In this review, we have summarized recent advances in understanding the role of 53BP1 in regulating DNA DSBs repair pathway choice, variable diversity joining [V(D)J] recombination and class-switch recombination (CSR). PMID:24320053

  11. Roles of the RecJ and RecQ proteins in spontaneous formation of deletion mutations in the Escherichia coli K12 endogenous tonB gene.

    Science.gov (United States)

    Mashimo, Kazumi; Kawata, Masakado; Yamamoto, Kazuo

    2003-07-01

    The endogenous tonB gene of Escherichia coli was used as a target for spontaneous deletion mutations which were isolated from recJ(-) and recQ(-) cells. Large deletions, due to simultaneous mutations of the trp operon, were also isolated. The rates of tonB mutation were 2.77 x 10(-8), 4.13 x 10(-8) and 5.00 x 10(-8) for rec(+), recJ(-) and recQ(-) cells, respectively. We analyzed 94 and 99 tonB mutants from the recJ(-) and recQ(-) cells, respectively, by sequencing. We found that IS insertion dominated, followed by base substitutions, frameshifts and deletions in both recJ(-) and recQ(-) strains. We then analyzed 55 tonB-trp deletions, ranging in size from 5907 to 20,832 bp, from the recJ(-) strains and 47 tonB-trp deletions, ranging in size from 4,959 to 16,390 bp from the recQ(-) strains. About one-third of tonB-trp deletions from both the recJ(-) and the recQ(-) cells were found to have occurred between short sequence repeats at the deletion termini. About one-third of tonB-trp deletions from both mutants showed 2-4 bp repeats in the immediate vicinity of the endpoints, which appeared to indicate no clear association with deletion. The remaining one-third of tonB-trp deletions had no homology at the endpoint. These results were similar to those for the rec(+) cells. Hanada and colleagues demonstrated that structually similar rearrangements arising during lambda bio phage formation (illegitimate recombination) increased in the recQ(-) strain. To explain this discrepancy, we interpreted as distinctive the mechanism for rearrangement during transducing phage formation which is recQ-dependent and that for deletions formed in chromosomes which is recQ-independent. PMID:12840109

  12. Multivalent display of the antimicrobial peptides BP100 and BP143

    OpenAIRE

    Imma Güell; Rafael Ferre; Kasper K. Sørensen; Esther Badosa; Iteng Ng-Choi; Emilio Montesinos; Eduard Bardají; Lidia Feliu; Jensen, Knud J; Marta Planas

    2012-01-01

    Carbohydrates are considered as promising templates for the display of multiple copies of antimicrobial peptides. Herein, we describe the design and synthesis of chimeric structures containing two or four copies of the antimicrobial peptides KKLFKKILKYL-NH2 (BP100) and KKLfKKILKYL-NH2 (BP143) attached to the carbohydrate template cyclodithioerythritol (cDTE) or α-D-galactopyranoside (Galp). The synthesis involved the preparation of the corresponding peptide aldehyde followed by coupling ...

  13. Heme oxygenase-1 deletion affects stress erythropoiesis.

    Directory of Open Access Journals (Sweden)

    Yu-An Cao

    Full Text Available BACKGROUND: Homeostatic erythropoiesis leads to the formation of mature red blood cells under non-stress conditions, and the production of new erythrocytes occurs as the need arises. In response to environmental stimuli, such as bone marrow transplantation, myelosuppression, or anemia, erythroid progenitors proliferate rapidly in a process referred to as stress erythropoiesis. We have previously demonstrated that heme oxygenase-1 (HO-1 deficiency leads to disrupted stress hematopoiesis. Here, we describe the specific effects of HO-1 deficiency on stress erythropoiesis. METHODOLOGY/PRINCIPAL FINDINGS: We used a transplant model to induce stress conditions. In irradiated recipients that received hmox(+/- or hmox(+/+ bone marrow cells, we evaluated (i the erythrocyte parameters in the peripheral blood; (ii the staining intensity of CD71-, Ter119-, and CD49d-specific surface markers during erythroblast differentiation; (iii the patterns of histological iron staining; and (iv the number of Mac-1(+-cells expressing TNF-α. In the spleens of mice that received hmox(+/- cells, we show (i decreases in the proerythroblast, basophilic, and polychromatophilic erythroblast populations; (ii increases in the insoluble iron levels and decreases in the soluble iron levels; (iii increased numbers of Mac-1(+-cells expressing TNF-α; and (iv decreased levels of CD49d expression in the basophilic and polychromatophilic erythroblast populations. CONCLUSIONS/SIGNIFICANCE: As reflected by effects on secreted and cell surface proteins, HO-1 deletion likely affects stress erythropoiesis through the retention of erythroblasts in the erythroblastic islands of the spleen. Thus, HO-1 may serve as a therapeutic target for controlling erythropoiesis, and the dysregulation of HO-1 may be a predisposing condition for hematologic diseases.

  14. Characterization of the Tomato Prosystemin Promoter: Organ-specific Expression, Hormone Specificity and Methyl Jasmonate Responsiveness by Deletion Analysis in Transgenic Tobacco Plants(F)

    Institute of Scientific and Technical Information of China (English)

    Hamlet Avilés-Arnaut; John Paul Délano-Frier

    2012-01-01

    Tomato systemin is a bioactive peptide that regulates the systemic activation of wound-responsive genes.It is released from its 200 amino acid precursor called prosystemin.Initial tissue-localization and hormone-induced expression assays indicated that the tomato prosystemin gene (SIPS) accumulates mainly in floral tissues and in response to exogenous abscisic acid and methyl jasmonate (MeJA)treatments,respectively.Later,the promoter regions of the PS gene in tomato (Solanum lycopersicum L.cv.Castlemart),pepper (Capsicum annuum) and potato (Solanum tuberosum) were isolated and an in silico analysis of the SIPS promoter revealed an over-representation of stress- and MeJA-responsive motifs.A subsequent 5' deletion analysis of the SIPS promoter fused to theβ-glucuronidase reporter (GUS) gene showed that the -221 to +40 bp proximal SIPS promoter region was sufficient to direct the stigma,vascular bundle-specific and MeJA-responsive expression of GUS in transgenic tobacco plants.Important vascular-tissue-specific,light- and MeJA-responsive cis-elements were also present in this region.These findings provide relevant information regarding the transcriptional regulation mechanisms of the SIPS promoter operating in transgenic tobacco plants.They also suggest that its tissue-specificity and inducible nature could have wide applicability in plant biotechnology.

  15. CaBP1 regulates voltage-dependent inactivation and activation of Ca(V)1.2 (L-type) calcium channels.

    Science.gov (United States)

    Oz, Shimrit; Tsemakhovich, Vladimir; Christel, Carl J; Lee, Amy; Dascal, Nathan

    2011-04-22

    CaBP1 is a Ca(2+)-binding protein that regulates the gating of voltage-gated (Ca(V)) Ca(2+) channels. In the Ca(V)1.2 channel α(1)-subunit (α(1C)), CaBP1 interacts with cytosolic N- and C-terminal domains and blunts Ca(2+)-dependent inactivation. To clarify the role of the α(1C) N-terminal domain in CaBP1 regulation, we compared the effects of CaBP1 on two alternatively spliced variants of α(1C) containing a long or short N-terminal domain. In both isoforms, CaBP1 inhibited Ca(2+)-dependent inactivation but also caused a depolarizing shift in voltage-dependent activation and enhanced voltage-dependent inactivation (VDI). In binding assays, CaBP1 interacted with the distal third of the N-terminal domain in a Ca(2+)-independent manner. This segment is distinct from the previously identified calmodulin-binding site in the N terminus. However, deletion of a segment in the proximal N-terminal domain of both α(1C) isoforms, which spared the CaBP1-binding site, inhibited the effect of CaBP1 on VDI. This result suggests a modular organization of the α(1C) N-terminal domain, with separate determinants for CaBP1 binding and transduction of the effect on VDI. Our findings expand the diversity and mechanisms of Ca(V) channel regulation by CaBP1 and define a novel modulatory function for the initial segment of the N terminus of α(1C). PMID:21383011

  16. BP Oil Company's approach to risk management

    International Nuclear Information System (INIS)

    The oil and chemical industries face major challenges in deciding how to handle the numerous recommendations coming from various audits, reviews and studies conducted in the functional areas of personnel health and safety, loss prevention, and environmental protection. And, the number of recommendations continues to grow with time, as regulations and normal business requirements are met. BP Oil has developed a methodology for risk ranking the events leading to specific recommendations and then determining the cost-effectiveness of the recommendations in reducing the risk. The author completed successful pilot tests of this methodology at two of BP Oil's petroleum refineries, examining the recommendations from process hazards analyses and studies completed over the past few years. The methodology has since been implemented throughout their petroleum refining, distribution, transportation, and retail business streams

  17. BP refinery closure raises chemical feed issues

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1996-11-20

    BP chemicals has reaffirmed its plans to carry on chemicals production at Lima, OH, even though British Petroleum has decided to close the 160,000-bbl/day refinery there in two years. The closure will cut off some streams for chemicals production and marketing. {open_quotes}There will be some things to sort out,{close_quotes} the company says, {open_quotes}but we feel they`re manageable issues.{close_quotes} As with many refineries shut down in the past few years in the US, the site will continue to be operated as a terminal and blending facility. The key chemical plant is a 400-million lbs/year acrylonitrile unit, which uses 200 million lbs/year of propylene from the refinery. BP is the top acrylo producer in North America and its expanding its Green Lake, TX plant from 700 million lbs/year to more than 900 million lbs/year by adding a third reactor; the unit is to be onstream by the end of the year. BP says is will be able to find merchant propylene, if necessary, but will be working on {open_quotes}creative{close_quotes} ways of keeping the propylene splitter on-site operating, it says. BP also produces nitrogen, catalysts, and polymers at its site adjacent to the refinery--all of which will stay in operation. Merchant benzene production of 115 million gal/year and captive toluene production of 110 million gal/year will end with the refinery closing.

  18. Characterization of a novel radiation-inducible transcript, uscA, and analysis of its transcriptional regulation

    International Nuclear Information System (INIS)

    The transcriptional expression of the uscA promote (PuscA) only occurred under aerobic conditions and a dose of 2Gy maximally activated transcription of PuscA. However, various environmental stress including physical shocks (pH, temperature, osmotic shock), DNA damaging agents (UV and MMC) or oxidative stressagents (paraquat, menadione, and H2O2) didn't cause the transcriptional activationof PuscA. The transcription of uscA was initiated at 170 bp upstream of the cyoA start codon, and ended around the ampG stop codon. The size of uscA was determined through reverse transcription assay, approximately 250 bp. The deletion analysis of uscA promoter demonstrates that radiation inducibility of PuscA is mediated by sequences present between -20 and +111 relativeto +1 of PuscA and radiation causes PuscA activation thorough permitting the expression that is repressed under non-irradiated conditions

  19. The Value of a BP Determination Method Using a Novel Non-Invasive BP Device against the Invasive Catheter Measurement

    OpenAIRE

    Jinsong Xu; Yanqing Wu; Hai Su; Weitong Hu; Juxiang Li; Wenying Wang; Xin Liu; Xiaoshu Cheng

    2014-01-01

    OBJECTIVE: The aim of this study was to evaluate the accuracy of a new blood pressure (BP) measurement method (Pulse method). METHODS: This study enrolled 45 patients for selective percutaneous coronary intervention (PCI) via right radial artery. A BP device using either oscillometric (Microlife 3AC1-1) or Pulse method(RG-BP11)was used. At the beginning of each PCI, intra-radial BP was measured before Microlife BP or Pulse BP measurement as its own reference, respectively. At the end of PCI, ...

  20. Illegitimate recombination induced by benzo[a]pyrene diol epoxide in Escherichia coli

    International Nuclear Information System (INIS)

    Duplex DNA oligomer constructs (32 base pairs) were paired that contained a single benzo[a]pyrene (BP) adduct at a specific deoxyadenosine or deoxyguanosine site in either one or both strands. These constructs were inserted into M13 replicative form viral DNA, and the DNA from progeny virus generated by transfection of Escherichia coli was examined by sequence analysis at the site of oligomer insertion. With nonalkylated constructs, and with constructs containing only one BP adduct, no sequence alterations were found in progeny viral DNAs. With constructs containing two BP adducts, one in each strand and closely spaced, some progeny DNAs showed the original oligomer sequence, whereas others exhibited large deletions and illegitimate (non-homologous) recombination, both of which removed the damage construct. Increasing the distance between BP adducts in the construct reduced the frequency of recombinant events. These sequence alterations occurred in both recA+ and recA- host cells. The authors speculate that the closely spaced adducts in opposite construct strands cause a rare distortion in DNA structure, which activates the recombinant machinery, and that mutagenic and carcinogenic agents other than polycyclic aromatic hydrocarbons may cause similar DNA distortions, which induce illegitimate recombination

  1. Gene deletion analysis of a Chinese boy with Xp21 contiguous gene deletion syndrome

    Institute of Scientific and Technical Information of China (English)

    麻宏伟; 姜俊; 王岳平; 王志超; 陈丽英; 松尾雅文

    2004-01-01

    @@ Xp21 contiguous gene deletion syndrome, sometimes called complex glycerol kinase deficiency, is associated with variable size Xp21 deletions that usually include the glycerol kinase gene and span multiple Xp21 disease gene loci in the region. The order of the potentially affected loci are as follows:

  2. Waste Sampling Data for BP Spill/Deepwater Horizon

    Data.gov (United States)

    U.S. Environmental Protection Agency — The Deepwater Horizon oil spill (also referred to as the BP oil spill) began on 20 April 2010 in the Gulf of Mexico on the BP-operated Macondo Prospect. Following...

  3. Sediment Sampling Data for BP Spill/Deepwater Horizon

    Data.gov (United States)

    U.S. Environmental Protection Agency — The Deepwater Horizon oil spill (also referred to as the BP oil spill) began on 20 April 2010 in the Gulf of Mexico on the BP-operated Macondo Prospect. Following...

  4. 电离辐射致人外周血有核细胞mtDNA4977bp缺失水平分析%Analysis of mtDNA 4977bp Deletion Induced by Ionizing Radiation in Human Peripheral Blood Nucleated Cells Using Real-time PCR

    Institute of Scientific and Technical Information of China (English)

    范天黎; 王平; 刘玉龙; 韩林; 吕玉民

    2010-01-01

    采集6名正常人外周血,体外进行~(60)Co γ射线单次照射,剂量分别为0、1、2、3、4和5 Gy.照射后2小时采用实时定量PCR方法检测~(60)Co γ射线诱发的人外周血有核细胞mtDNA 4977bp缺失(△mtDNA~(4977))和mtDNA总拷贝数(mtDNA~(total)),探讨用△mtDNA4977为指标进行辐射事故生物剂量估算的可能性.结果表明,在0~5 Gy照射剂量范围内,6名健康人mtDNA样品中的mtDNA~(total)拷贝数、△mtDNA~(4977)拷贝数和△mtDNA~(4977)缺失率在照射后明显高于未照射(0 Gy)的mtDNA样品(p<0.05),但各照射剂量组间未见明显差异(p>0.05).提示电离辐射能够诱发人外周血mtDNA样品中4977bp缺失的累积和mtDNA总拷贝数的增加,但△mtDNA~(4977)水平与受照剂量间未见明显的剂量-效应关系.

  5. Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin.

    Science.gov (United States)

    Mumm, S; Zhang, X; Gottesman, G S; McAlister, W H; Whyte, M P

    2001-12-01

    Spondyloepiphyseal dysplasia tarda (SEDT), an X-linked recessive skeletal disorder, presents with disproportionate short stature and "barrel-chest" deformity in affected (hemizygous) adolescent boys. In four reported families to date, mutations in a gene designated SEDL (spondyloepiphyseal dysplasia late) cosegregate with SEDT. We diagnosed SEDT in a short-stature, kyphotic 15-year-old boy because of his characteristic vertebral malformations. Clinical manifestations of SEDT were evident in at least four previous generations. A novel 2-base pair (bp) deletion in exon 5 of SEDL was found in the propositus by polymerase chain reaction (PCR) amplification and sequencing of all four coding exons. The mutation ATdel241-242 cosegregated with the kindred's skeletal disease. The deletion is adjacent to a noncanonical splice site for exon 5 but does not alter splicing. Instead, it deletes 2 bp from the coding sequence, causing a frameshift. A maternal aunt and her three young sons were investigated subsequently. Radiographs showed subtle shaping abnormalities of her pelvis and knees, suggesting heterozygosity. X-rays of the spine and pelvis of her 8-year-old son revealed characteristic changes of SEDT, but her younger sons (aged 6 years and 3 years) showed no abnormalities. SEDL analysis confirmed that she and only her eldest boy had the 2-bp deletion. Molecular testing of SEDL enables carrier detection and definitive diagnosis before clinical or radiographic expression of SEDT. Although there is no specific treatment for SEDT, preexpression molecular testing of SEDL could be helpful if avoiding physical activities potentially injurious to the spine and the joints proves beneficial. PMID:11760838

  6. Rare gross deletion in T-cell immune regulator-1 gene in Iranian familywith infantile malignant osteopetrosis

    International Nuclear Information System (INIS)

    Infantile malignant osteopetrosis is an autosomal recessive disorder.Mutations in the T-cell immune regulator 1 (TCIG1) gene were found as thecause of arOP. We found the first Iranian patient with a rare gross deletionin this gene. The patient was a 5-year-old girl with macrocephaly, facialdysmorphism, blindness, mental retardation, hepatosplenomegaly, pancytopeniaand osteosclerotic changes in the skull and the limb. Molecular analysis wasperformed using reverse transcriptase-polymerase chain reaction for exons10-19 of the TCIRG1 gene followed by whole gene sequencing. She showed a 275bp unexpected amplified segment. Sequencing revealed a gross deletion inexons 10-15 transcript region of TCIRG1 that affected codon 389 to 518.Various types of mutations in the TCIRG1 gene in arOP have been reported,however, gross deletions are reported rarely. This gross deletion is thefirst mutation reported among Iranian patients in this gene. This deletion isalso the largest deletion of TCIRG1 gene reported to date. (author)

  7. Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.

    Science.gov (United States)

    Rodríguez-Pascau, Laura; Toma, Claudio; Macías-Vidal, Judit; Cozar, Mónica; Cormand, Bru; Lykopoulou, Lilia; Coll, Maria Josep; Grinberg, Daniel; Vilageliu, Lluïsa

    2012-12-01

    Niemann-Pick type C (NPC) disease is an autosomal recessive lysosomal disorder characterised by the accumulation of a complex pattern of lipids in the lysosomal-late endosomal system. More than 300 disease-causing mutations have been identified so far in the NPC1 and NPC2 genes, including indel, missense, nonsense and splicing mutations. Only one genomic deletion, of more than 23 kb, has been previously reported. We describe two larger structural variants, encompassing NPC1 and flanking genes, as a cause of the disease. QMPSF, SNP inheritance and CytoScan® HD Array were used to confirm and further characterise the presence of hemizygous deletions in two patients. One of the patients (NPC-57) bore a previously described missense mutation (p.T1066N) and an inherited deletion that included NPC1, C18orf8 and part of ANKRD29 gene. The second patient (NPC-G1) had a 1-bp deletion (c.852delT; p.F284Lfs*26) and a deletion encompassing the promoter region and exons 1-10 of NPC1 and the adjacent ANKRD29 and LAMA3. This study characterised two novel chromosomal microdeletions at 18q11-q12 that cause NPC disease and provide insight into missing NPC1 mutant alleles. PMID:23142039

  8. AcEST: BP917767 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_B11 76 Adiantum capillus-veneris mRNA. clone: YMU001_000105_B11. BP917767 - Show BP9177... mRNA. clone: YMU001_000105_B11. Accession BP917767 Tissue type prothallium Developmental stage - Contig ID

  9. AcEST: BP916367 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000086_H07 86 Adiantum capillus-veneris mRNA. clone: YMU001_000086_H07. BP916367 - Show BP916367... mRNA. clone: YMU001_000086_H07. Accession BP916367 Tissue type prothallium Developmental stage - Contig ID

  10. Dicty_cDB: FC-BP14 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available FC (Link to library) FC-BP14 (Link to dictyBase) - - - Contig-U15220-1 FC-BP14P (Li...nk to Original site) FC-BP14F 507 FC-BP14Z 675 FC-BP14P 1182 - - Show FC-BP14 Library FC (Link to library) Clone ID FC-BP1...nal site URL http://dictycdb.biol.tsukuba.ac.jp/CSM/FC/FC-BP/FC-BP14Q.Seq.d/ Repr...esentative seq. ID FC-BP14P (Link to Original site) Representative DNA sequence >FC-BP14 (FC-BP14Q) /CSM/FC/FC-BP/FC-BP1... CSM-cDNA Score E Sequences producing significant alignments: (bits) Value FC-BP14 (FC-BP14Q) /CSM/FC/FC-BP/FC-BP1

  11. 9q22 Deletion - First Familial Case

    Directory of Open Access Journals (Sweden)

    Yamamoto Toshiyuki

    2011-06-01

    Full Text Available Abstract Background Only 29 cases of constitutional 9q22 deletions have been published and all have been sporadic. Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400 due to haploinsufficiency of the PTCH1 gene (MIM *601309. Methods and Results We report two mentally retarded female siblings and their cognitively normal father, all carrying a similar 5.3 Mb microdeletion at 9q22.2q22.32, detected by array CGH (244 K. The deletion does not involve the PTCH1 gene, but instead 30 other gene,s including the ROR2 gene (MIM *602337 which causing both brachydactyly type 1 (MIM #113000 and Robinow syndrome (MIM #268310, and the immunologically active SYK gene (MIM *600085. The deletion in the father was de novo and FISH analysis of blood lymphocytes did not suggest mosaicism. All three patients share similar mild dysmorphic features with downslanting palpebral fissures, narrow, high bridged nose with small nares, long, deeply grooved philtrum, ears with broad helix and uplifted lobuli, and small toenails. All have significant dysarthria and suffer from continuous middle ear and upper respiratory infections. The father also has a funnel chest and unilateral hypoplastic kidney but the daughters have no malformations. Conclusions This is the first report of a familial constitutional 9q22 deletion and the first deletion studied by array-CGH which does not involve the PTCH1 gene. The phenotype and penetrance are variable and the deletion found in the cognitively normal normal father poses a challenge in genetic counseling.

  12. Intersections of certain deleted digits sets

    CERN Document Server

    Pedersen, Steen

    2011-01-01

    We consider some properties of the intersection of deleted digits Cantor sets with their translates. We investigate conditions on the set of digits such that, for any t between zero and the dimension of the deleted digits Cantor set itself, the set of translations such that the intersection has Hausdorff dimension equal to t is dense in the set F of translations such that the intersection is non-empty. We make some simple observations regarding properties of the set F, in particular, we characterize when F is an interval, in terms of conditions on the digit set.

  13. Deletion 22q13.3 syndrome

    Directory of Open Access Journals (Sweden)

    Phelan Mary C

    2008-05-01

    Full Text Available Abstract The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic forms. Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is under-diagnosed and its true incidence remains unknown. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autistic-like with decreased perception of pain and habitual chewing or mouthing. The loss of 22q13.3 can result from simple deletion, translocation, ring chromosome formation and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene. The diagnosis of deletion 22q13 syndrome should be considered in all cases of hypotonia of unknown etiology and in individuals with absent speech. Although the deletion can sometimes be detected by high resolution chromosome analysis, fluorescence in situ hybridization (FISH or array comparative genomic hybridization (CGH is recommended for confirmation. Differential diagnosis includes syndromes associated with hypotonia, developmental delay, speech delay and/or autistic-like affect (Prader-Willi, Angelman, Williams, Smith-Magenis, Fragile X, Sotos, FG, trichorhinophalangeal and velocardiofacial syndromes, autism spectrum disorders, cerebral palsy. Genetic counseling is recommended and parental laboratory studies should be considered to identify cryptic rearrangements and detect parental mosaicism. Prenatal diagnosis should be offered for future pregnancies in those families with inherited rearrangements

  14. Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

    OpenAIRE

    Marzuillo, Pierluigi; Grandone, Anna; Coppola, Ruggero; Cozzolino, Domenico; Festa, Adalgisa; Messa, Federica; Luongo, Caterina; del Giudice, Emanuele Miraglia; Perrone, Laura

    2013-01-01

    Background Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature. The known genetic causes are point mutations or deletions of the cAMP-response element binding protein-BP (CREBBP) (50-60% of the cases) and of the homologous gene E1A-binding protein (EP300) (5%). Case presentation We descr...

  15. Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype.

    Science.gov (United States)

    Schilter, Kala F; Reis, Linda M; Sorokina, Elena A; Semina, Elena V

    2015-11-01

    Genetic causes of ocular conditions remain largely unknown. To reveal the molecular basis for a congenital ocular phenotype associated with glaucoma we performed whole-exome sequencing (WES) and whole-genome copy number analyses of patient DNA. WES did not identify a causative variant. Copy number variation analysis identified a deletion of 10p13 in the patient and his unaffected father; the deletion breakpoint contained a single 37-bp sequence that is normally present in two distinct Alu repeats separated by ~181 kb. The deletion removed part of the upstream region of optineurin (OPTN) as well as the upstream sequence and two coding exons of coiled-coil domain containing 3 (CCDC3); analysis of the patient's second allele showed normal OPTN and CCDC3 sequences. Studies of zebrafish orthologs identified expression in the developing eye for both genes. OPTN is a known factor in dominant adult-onset glaucoma and Amyotrophic Lateral Sclerosis (ALS). The deletion eliminates 98 kb of the OPTN upstream sequence leaving only ~1 kb of the proximal promoter region. Comparison of transcriptional activation capability of the 3 kb normal and the rearranged del(10)(p13) OPTN promoter sequences demonstrated a statistically significant decrease for the deleted allele; sequence analysis of the entire deleted region identified multiple conserved elements with possible cis-regulatory activity. Additional screening of CCDC3 indicated that heterozygous loss-of-function alleles are unlikely to cause congenital ocular disease. In summary, we report the first regulatory region deletion involving OPTN, caused by Alu-mediated nonallelic homologous recombination and possibly contributing to the patient's ocular phenotype. In addition, our data indicate that Alu-mediated rearrangements of the OPTN upstream region may represent a new source of affected alleles in human conditions. Evaluation of the upstream OPTN sequences in additional ocular and ALS patients may help to determine the role

  16. Control region mutations and the 'common deletion' are frequent in the mitochondrial DNA of patients with esophageal squamous cell carcinoma

    Directory of Open Access Journals (Sweden)

    Tang Ze-Zong

    2004-07-01

    Full Text Available Abstract Background North central China has some of the highest rates of esophageal squamous cell carcinoma in the world with cumulative mortality surpassing 20%. Mitochondrial DNA (mtDNA accumulates more mutations than nuclear DNA and because of its high abundance has been proposed as a early detection device for subjects with cancer at various sites. We wished to examine the prevalence of mtDNA mutation and polymorphism in subjects from this high risk area of China. Methods We used DNA samples isolated from tumors, adjacent normal esophageal tissue, and blood from 21 esophageal squamous cell carcinoma cases and DNA isolated from blood from 23 healthy persons. We completely sequenced the control region (D-Loop from each of these samples and used a PCR assay to assess the presence of the 4977 bp common deletion. Results Direct DNA sequencing revealed that 7/21 (33%, 95% CI = 17–55% tumor samples had mutations in the control region, with clustering evident in the hyper-variable segment 1 (HSV1 and the homopolymeric stretch surrounding position 309. The number of mutations per subject ranged from 1 to 16 and there were a number of instances of heteroplasmy. We detected the 4977 bp 'common deletion' in 92% of the tumor and adjacent normal esophageal tissue samples examined, whereas no evidence of the common deletion was found in corresponding peripheral blood samples. Conclusions Control region mutations were insufficiently common to warrant attempts to develop mtDNA mutation screening as a clinical test for ESCC. The common deletion was highly prevalent in the esophageal tissue of cancer cases but absent from peripheral blood. The potential utility of the common deletion in an early detection system will be pursued in further studies.

  17. Some analogies between quantum cloning and quantum deleting

    International Nuclear Information System (INIS)

    We further verify the impossibility of deleting an arbitrary unknown quantum state, and also show it is impossible to delete two nonorthogonal quantum states as a consequence of unitarity of quantum mechanics. A quantum approximate (deterministic) deleting machine and a probabilistic (exact) deleting machine are constructed. The estimation for the global fidelity characterizing the efficiency of the quantum approximate deleting is given. We then demonstrate that unknown nonorthogonal states chosen from a set with their multiple copies can evolve into a linear superposition of multiple deletions and failure branches by a unitary process if and only if the states are linearly independent. It is notable that the proof for necessity is somewhat different from Pati's [Phys. Rev. Lett. 83, 2849 (1999)]. Another deleting machine for the input states that are unnecessarily linearly independent is also presented. The bounds on the success probabilities of these deleting machines are derived. So we expound some preliminary analogies between quantum cloning and deleting

  18. AcEST: BP920166 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_G12 149 Adiantum capillus-veneris mRNA. clone: YMU001_000133_G12. BP920166 - Show BP92016...is mRNA. clone: YMU001_000133_G12. Accession BP920166 Tissue type prothallium Developmental stage - Contig I...w generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP92016...protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920166|Adiantum capillus-veneris

  19. AcEST: BP920168 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_H02 390 Adiantum capillus-veneris mRNA. clone: YMU001_000133_H02. BP920168 - Show BP92016...is mRNA. clone: YMU001_000133_H02. Accession BP920168 Tissue type prothallium Developmental stage - Contig I...n database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920168|Adiantum capillus-veneris mRNA,...c Acids Res. 25:3389-3402. Query= BP920168|Adiantum capillus-veneris mRNA, clone: YMU001_000133_H02. (390 le

  20. AcEST: BP920164 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_G09 447 Adiantum capillus-veneris mRNA. clone: YMU001_000133_G09. BP920164 - Show BP92016...is mRNA. clone: YMU001_000133_G09. Accession BP920164 Tissue type prothallium Developmental stage - Contig I...ST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920164|A...se search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920164|Adiantum cap

  1. AcEST: BP920169 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_H03 505 Adiantum capillus-veneris mRNA. clone: YMU001_000133_H03. BP920169 - Show BP92016...is mRNA. clone: YMU001_000133_H03. Accession BP920169 Tissue type prothallium Developmental stage - Contig I...eration of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP92016...eneration of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920169|Adiantum cap

  2. AcEST: BP920167 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_H01 152 Adiantum capillus-veneris mRNA. clone: YMU001_000133_H01. BP920167 - Show BP92016...is mRNA. clone: YMU001_000133_H01. Accession BP920167 Tissue type prothallium Developmental stage - Contig I...ids Res. 25:3389-3402. Query= BP920167|Adiantum capillus-veneris mRNA, clone: YMU...LAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920167

  3. AcEST: BP920165 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_G11 301 Adiantum capillus-veneris mRNA. clone: YMU001_000133_G11. BP920165 - Show BP92016...is mRNA. clone: YMU001_000133_G11. Accession BP920165 Tissue type prothallium Developmental stage - Contig I...LAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920165...and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP92016

  4. AcEST: BP920161 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_G06 542 Adiantum capillus-veneris mRNA. clone: YMU001_000133_G06. BP920161 - Show BP92016...is mRNA. clone: YMU001_000133_G06. Accession BP920161 Tissue type prothallium Developmental stage - Contig I...LAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9201...ped BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP92016

  5. AcEST: BP920163 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_G08 372 Adiantum capillus-veneris mRNA. clone: YMU001_000133_G08. BP92016...3 CL2472Contig1 Show BP920163 Clone id YMU001_000133_G08 Library YMU01 Length 372 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000133_G08. Accession BP920163 Tissue type prothallium Developmental stag...eneration of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920163|Adiantum cap... search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920163|Adiantum capillus-veneris mRNA, clone: YM

  6. AcEST: BP912707 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000022_A02 298 Adiantum capillus-veneris mRNA. clone: YMU001_000022_A02. BP912707 - Show BP912707...is mRNA. clone: YMU001_000022_A02. Accession BP912707 Tissue type prothallium Developmental stage - Contig I... of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP912707|Adiantum capillus-ven...rams, Nucleic Acids Res. 25:3389-3402. Query= BP912707|Adiantum capillus-veneris mRNA, clone: YMU001_000022_

  7. AcEST: BP917711 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_E02 534 Adiantum capillus-veneris mRNA. clone: YMU001_000104_E02. BP917711 - Show BP9177...is mRNA. clone: YMU001_000104_E02. Accession BP917711 Tissue type prothallium Developmental stage - Contig I...s. 25:3389-3402. Query= BP917711|Adiantum capillus-veneris mRNA, clone: YMU001_000104_E02. (534 letters) Dat...n of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917711|Adiantum capillus-ve

  8. AcEST: BP917703 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_D05 340 Adiantum capillus-veneris mRNA. clone: YMU001_000104_D05. BP9177...03 CL1948Contig1 Show BP917703 Clone id YMU001_000104_D05 Library YMU01 Length 340 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000104_D05. Accession BP917703 Tissue type prothallium Developmental stag...arch programs, Nucleic Acids Res. 25:3389-3402. Query= BP917703|Adiantum capillus-veneris mRNA, clone: YMU00...ic Acids Res. 25:3389-3402. Query= BP917703|Adiantum capillus-veneris mRNA, clone

  9. AcEST: BP917787 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_D11 582 Adiantum capillus-veneris mRNA. clone: YMU001_000105_D11. BP917787 - Show BP9177...is mRNA. clone: YMU001_000105_D11. Accession BP917787 Tissue type prothallium Developmental stage - Contig I...n database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917787|Adiantum capillus-veneris mRNA,...apped BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177

  10. AcEST: BP917732 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_G02 305 Adiantum capillus-veneris mRNA. clone: YMU001_000104_G02. BP917732 - Show BP9177...is mRNA. clone: YMU001_000104_G02. Accession BP917732 Tissue type prothallium Developmental stage - Contig I...in database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917732|Adiantum capillus-veneris mRNA...ds Res. 25:3389-3402. Query= BP917732|Adiantum capillus-veneris mRNA, clone: YMU001_000104_G02. (305 letters

  11. AcEST: BP917756 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_A08 493 Adiantum capillus-veneris mRNA. clone: YMU001_000105_A08. BP917756 - Show BP9177...is mRNA. clone: YMU001_000105_A08. Accession BP917756 Tissue type prothallium Developmental stage - Contig I...in database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917756|Adi...ograms, Nucleic Acids Res. 25:3389-3402. Query= BP917756|Adiantum capillus-veneris mRNA, clone: YMU001_00010

  12. AcEST: BP917783 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_D07 525 Adiantum capillus-veneris mRNA. clone: YMU001_000105_D07. BP917783 - Show BP9177...is mRNA. clone: YMU001_000105_D07. Accession BP917783 Tissue type prothallium Developmental stage - Contig I...ids Res. 25:3389-3402. Query= BP917783|Adiantum capillus-veneris mRNA, clone: YMU001_000105_D07. (525 letter...pped BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177

  13. AcEST: BP917763 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_B06 159 Adiantum capillus-veneris mRNA. clone: YMU001_000105_B06. BP917763 - Show BP9177...is mRNA. clone: YMU001_000105_B06. Accession BP917763 Tissue type prothallium Developmental stage - Contig I...leic Acids Res. 25:3389-3402. Query= BP917763|Adiantum capillus-veneris mRNA, clo...d PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177

  14. AcEST: BP917796 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_E10 461 Adiantum capillus-veneris mRNA. clone: YMU001_000105_E10. BP9177...96 CL2065Contig1 Show BP917796 Clone id YMU001_000105_E10 Library YMU01 Length 461 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000105_E10. Accession BP917796 Tissue type prothallium Developmental stag...rch programs, Nucleic Acids Res. 25:3389-3402. Query= BP917796|Adiantum capillus-...ids Res. 25:3389-3402. Query= BP917796|Adiantum capillus-veneris mRNA, clone: YMU

  15. AcEST: BP911772 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000009_A06 326 Adiantum capillus-veneris mRNA. clone: YMU001_000009_A06. BP911772 - Show BP91177...is mRNA. clone: YMU001_000009_A06. Accession BP911772 Tissue type prothallium Developmental stage - Contig I...-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91177...ration of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91177

  16. AcEST: BP917735 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_G07 461 Adiantum capillus-veneris mRNA. clone: YMU001_000104_G07. BP917735 - Show BP9177...is mRNA. clone: YMU001_000104_G07. Accession BP917735 Tissue type prothallium Developmental stage - Contig I...eic Acids Res. 25:3389-3402. Query= BP917735|Adiantum capillus-veneris mRNA, clon...eneration of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917735|Adiantum cap

  17. AcEST: BP911771 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000009_A05 478 Adiantum capillus-veneris mRNA. clone: YMU001_000009_A05. BP911771 - Show BP91177...is mRNA. clone: YMU001_000009_A05. Accession BP911771 Tissue type prothallium Developmental stage - Contig I...ic Acids Res. 25:3389-3402. Query= BP911771|Adiantum capillus-veneris mRNA, clone... protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP911771|Adiantum capillus-veneri

  18. AcEST: BP917727 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_F09 528 Adiantum capillus-veneris mRNA. clone: YMU001_000104_F09. BP917727 - Show BP9177...is mRNA. clone: YMU001_000104_F09. Accession BP917727 Tissue type prothallium Developmental stage - Contig I...Res. 25:3389-3402. Query= BP917727|Adiantum capillus-veneris mRNA, clone: YMU001_000104_F09. (528 letters) D...tion of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177

  19. AcEST: BP917741 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_H02 445 Adiantum capillus-veneris mRNA. clone: YMU001_000104_H02. BP917741 - Show BP9177...is mRNA. clone: YMU001_000104_H02. Accession BP917741 Tissue type prothallium Developmental stage - Contig I... Gapped BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177...eration of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177

  20. AcEST: BP917752 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_A04 422 Adiantum capillus-veneris mRNA. clone: YMU001_000105_A04. BP917752 - Show BP9177...is mRNA. clone: YMU001_000105_A04. Accession BP917752 Tissue type prothallium Developmental stage - Contig I...7), Gapped BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177...rch programs, Nucleic Acids Res. 25:3389-3402. Query= BP917752|Adiantum capillus-...ncharacterized protein OS=Vitis vinifera GN=VITISV_008296 PE=4 SV=1 Length = 1027 Score = 72.8 bits (177

  1. AcEST: BP917740 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_G12 396 Adiantum capillus-veneris mRNA. clone: YMU001_000104_G12. BP917740 - Show BP9177...is mRNA. clone: YMU001_000104_G12. Accession BP917740 Tissue type prothallium Developmental stage - Contig I...tein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917740|Adiantum capillus-veneris mR...w generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917740|Adiantum ...: 4 DLLKAYVTEVDQRDQWKNHSPLVEYVYNYSTHTSTRKTLFKVTEERLKIRLIVKTLG--K 177 D+L+A V +D +

  2. AcEST: BP917700 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_D02 544 Adiantum capillus-veneris mRNA. clone: YMU001_000104_D02. BP9177...00 CL272Contig1 Show BP917700 Clone id YMU001_000104_D02 Library YMU01 Length 544 Definition Adiantum cap...illus-veneris mRNA. clone: YMU001_000104_D02. Accession BP917700 Tissue type prothallium Developmental stage... of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917700|Adiantum capillus-ven...f protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917700|Adiantum capillus-vener

  3. AcEST: BP917712 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_E03 514 Adiantum capillus-veneris mRNA. clone: YMU001_000104_E03. BP917712 - Show BP9177...is mRNA. clone: YMU001_000104_E03. Accession BP917712 Tissue type prothallium Developmental stage - Contig I...n database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917712|Adia...atabase search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917712|Adiantu...073 PE=4 SV=1 Length = 146 Score = 34.7 bits (78), Expect = 2.5 Identities = 22/91 (24%), Positives = 38/91

  4. AcEST: BP917747 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_H10 483 Adiantum capillus-veneris mRNA. clone: YMU001_000104_H10. BP917747 - Show BP9177...is mRNA. clone: YMU001_000104_H10. Accession BP917747 Tissue type prothallium Developmental stage - Contig I...on of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177...s. 25:3389-3402. Query= BP917747|Adiantum capillus-veneris mRNA, clone: YMU001_000104_H10. (483 letters) Dat

  5. AcEST: BP917743 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_H04 524 Adiantum capillus-veneris mRNA. clone: YMU001_000104_H04. BP917743 - Show BP9177...is mRNA. clone: YMU001_000104_H04. Accession BP917743 Tissue type prothallium Developmental stage - Contig I...e search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917743|Adiantum capi...tabase search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917743|Adiantum capillus-veneris mRNA, clo

  6. AcEST: BP917775 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_C08 544 Adiantum capillus-veneris mRNA. clone: YMU001_000105_C08. BP917775 - Show BP9177...is mRNA. clone: YMU001_000105_C08. Accession BP917775 Tissue type prothallium Developmental stage - Contig I...w generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177...ration of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917775|Adiantum capill

  7. AcEST: BP917780 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_D03 505 Adiantum capillus-veneris mRNA. clone: YMU001_000105_D03. BP917780 - Show BP9177...is mRNA. clone: YMU001_000105_D03. Accession BP917780 Tissue type prothallium Developmental stage - Contig I...eneration of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177...ein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917780|Ad...) Frame = +1 Query: 229 TLGN*FDLFGPPIRRLPF-WIVLWSILGLA*GGAC 330 TLG D+F P ++LP W+ LWS LG GG C Sbjct: 177

  8. AcEST: BP911775 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000009_A09 285 Adiantum capillus-veneris mRNA. clone: YMU001_000009_A09. BP91177...5 CL2064Contig1 Show BP911775 Clone id YMU001_000009_A09 Library YMU01 Length 285 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000009_A09. Accession BP911775 Tissue type prothallium Developmental stag...LAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP911775...tion of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP911775|Adiantum capillus

  9. AcEST: BP917799 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_F02 443 Adiantum capillus-veneris mRNA. clone: YMU001_000105_F02. BP917799 - Show BP9177...is mRNA. clone: YMU001_000105_F02. Accession BP917799 Tissue type prothallium Developmental stage - Contig I...BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91779...tion of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917799|Adiantum capillus

  10. AcEST: BP917718 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_E11 470 Adiantum capillus-veneris mRNA. clone: YMU001_000104_E11. BP917718 - Show BP9177...is mRNA. clone: YMU001_000104_E11. Accession BP917718 Tissue type prothallium Developmental stage - Contig I...earch programs, Nucleic Acids Res. 25:3389-3402. Query= BP917718|Adiantum capillus-veneris mRNA, clone: YMU0...es. 25:3389-3402. Query= BP917718|Adiantum capillus-veneris mRNA, clone: YMU001_000104_E11. (470 letters) Da

  11. AcEST: BP917785 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_D09 516 Adiantum capillus-veneris mRNA. clone: YMU001_000105_D09. BP917785 - Show BP9177...is mRNA. clone: YMU001_000105_D09. Accession BP917785 Tissue type prothallium Developmental stage - Contig I...: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177...n database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917785|Adiantum capillus-veneris mRNA,

  12. AcEST: BP917736 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_G08 378 Adiantum capillus-veneris mRNA. clone: YMU001_000104_G08. BP917736 - Show BP9177...is mRNA. clone: YMU001_000104_G08. Accession BP917736 Tissue type prothallium Developmental stage - Contig I...protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917736|Adiantum capillus-veneris... programs, Nucleic Acids Res. 25:3389-3402. Query= BP917736|Adiantum capillus-veneris mRNA, clone: YMU001_00

  13. AcEST: BP917708 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_D11 459 Adiantum capillus-veneris mRNA. clone: YMU001_000104_D11. BP9177...08 CL668Contig1 Show BP917708 Clone id YMU001_000104_D11 Library YMU01 Length 459 Definition Adiantum cap...illus-veneris mRNA. clone: YMU001_000104_D11. Accession BP917708 Tissue type prothallium Developmental stage...rograms, Nucleic Acids Res. 25:3389-3402. Query= BP917708|Adiantum capillus-vener...cids Res. 25:3389-3402. Query= BP917708|Adiantum capillus-veneris mRNA, clone: YMU001_000104_D11. (459 lette

  14. AcEST: BP916177 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000084_C01 435 Adiantum capillus-veneris mRNA. clone: YMU001_000084_C01. BP916177 - Show BP916177...is mRNA. clone: YMU001_000084_C01. Accession BP916177 Tissue type prothallium Developmental stage - Contig I...AST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP916177...d PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP916177

  15. AcEST: BP917716 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_E09 452 Adiantum capillus-veneris mRNA. clone: YMU001_000104_E09. BP9177...16 CL2904Contig1 Show BP917716 Clone id YMU001_000104_E09 Library YMU01 Length 452 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000104_E09. Accession BP917716 Tissue type prothallium Developmental stag...database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917716|Adiant...T and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177

  16. AcEST: BP917744 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_H05 493 Adiantum capillus-veneris mRNA. clone: YMU001_000104_H05. BP9177...44 CL73Contig1 Show BP917744 Clone id YMU001_000104_H05 Library YMU01 Length 493 Definition Adiantum capi...llus-veneris mRNA. clone: YMU001_000104_H05. Accession BP917744 Tissue type prothallium Developmental stage ... search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917744|Adiantum capil...s Res. 25:3389-3402. Query= BP917744|Adiantum capillus-veneris mRNA, clone: YMU001_000104_H05. (493 letters)

  17. AcEST: BP917771 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_C03 433 Adiantum capillus-veneris mRNA. clone: YMU001_000105_C03. BP917771 - Show BP9177...is mRNA. clone: YMU001_000105_C03. Accession BP917771 Tissue type prothallium Developmental stage - Contig I...LAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177...of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177

  18. AcEST: BP921773 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000154_A04 367 Adiantum capillus-veneris mRNA. clone: YMU001_000154_A04. BP921773 - Show BP92177...is mRNA. clone: YMU001_000154_A04. Accession BP921773 Tissue type prothallium Developmental stage - Contig I... of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP921773|Adiantum capillus-ven...ograms, Nucleic Acids Res. 25:3389-3402. Query= BP921773|Adiantum capillus-veneris mRNA, clone: YMU001_00015

  19. AcEST: BP921177 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000146_F04 542 Adiantum capillus-veneris mRNA. clone: YMU001_000146_F04. BP921177 - Show BP921177...is mRNA. clone: YMU001_000146_F04. Accession BP921177 Tissue type prothallium Developmental stage - Contig I..., Nucleic Acids Res. 25:3389-3402. Query= BP921177|Adiantum capillus-veneris mRNA, clone: YMU001_000146_F04....T: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP921177|Ad

  20. AcEST: BP921778 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000154_A09 262 Adiantum capillus-veneris mRNA. clone: YMU001_000154_A09. BP921778 - Show BP92177...is mRNA. clone: YMU001_000154_A09. Accession BP921778 Tissue type prothallium Developmental stage - Contig I...BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP92177...s, Nucleic Acids Res. 25:3389-3402. Query= BP921778|Adiantum capillus-veneris mRNA, clone: YMU001_000154_A09

  1. AcEST: BP917751 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_A03 466 Adiantum capillus-veneris mRNA. clone: YMU001_000105_A03. BP9177...51 CL2236Contig1 Show BP917751 Clone id YMU001_000105_A03 Library YMU01 Length 466 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000105_A03. Accession BP917751 Tissue type prothallium Developmental stag...tabase search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917751|Adiantum..., Nucleic Acids Res. 25:3389-3402. Query= BP917751|Adiantum capillus-veneris mRNA, clone: YMU001_000105_A03.

  2. AcEST: BP917768 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_B12 509 Adiantum capillus-veneris mRNA. clone: YMU001_000105_B12. BP917768 - Show BP9177...is mRNA. clone: YMU001_000105_B12. Accession BP917768 Tissue type prothallium Developmental stage - Contig I...T: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177...Res. 25:3389-3402. Query= BP917768|Adiantum capillus-veneris mRNA, clone: YMU001_000105_B12. (509 letters) D

  3. AcEST: BP917792 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_E06 308 Adiantum capillus-veneris mRNA. clone: YMU001_000105_E06. BP917792 - Show BP9177...is mRNA. clone: YMU001_000105_E06. Accession BP917792 Tissue type prothallium Developmental stage - Contig I...ic Acids Res. 25:3389-3402. Query= BP917792|Adiantum capillus-veneris mRNA, clone: YMU001_000105_E06. (308 l...Gapped BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177

  4. AcEST: BP913000 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000025_C05 322 Adiantum capillus-veneris mRNA. clone: YMU001_000025_C05. BP913000... CL1177Contig1 Show BP913000 Clone id YMU001_000025_C05 Library YMU01 Length 322 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000025_C05. Accession BP913000 Tissue type prothallium Developmental stag.... 25:3389-3402. Query= BP913000|Adiantum capillus-veneris mRNA, clone: YMU001_000025_C05. (322 letters) Data...ration of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP913000|Adiantum capill

  5. AcEST: BP921010 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000144_E04 526 Adiantum capillus-veneris mRNA. clone: YMU001_000144_E04. BP921010 - Show BP92101...is mRNA. clone: YMU001_000144_E04. Accession BP921010 Tissue type prothallium Developmental stage - Contig I...in database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP921010|Adiantum capillus-veneris mRNA...programs, Nucleic Acids Res. 25:3389-3402. Query= BP921010|Adiantum capillus-veneris mRNA, clone: YMU001_000

  6. AcEST: BP921016 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000144_E10 528 Adiantum capillus-veneris mRNA. clone: YMU001_000144_E10. BP92101...6 CL35Contig1 Show BP921016 Clone id YMU001_000144_E10 Library YMU01 Length 528 Definition Adiantum capi...llus-veneris mRNA. clone: YMU001_000144_E10. Accession BP921016 Tissue type prothallium Developmental stage ... Res. 25:3389-3402. Query= BP921016|Adiantum capillus-veneris mRNA, clone: YMU001... a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP921016|Adia

  7. AcEST: BP919713 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000128_C09 384 Adiantum capillus-veneris mRNA. clone: YMU001_000128_C09. BP919713 - Show BP91971...is mRNA. clone: YMU001_000128_C09. Accession BP919713 Tissue type prothallium Developmental stage - Contig I...database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP919713|Adiantum capillus-veneris mRNA, c...rams, Nucleic Acids Res. 25:3389-3402. Query= BP919713|Adiantum capillus-veneris

  8. AcEST: BP911971 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000011_E04 469 Adiantum capillus-veneris mRNA. clone: YMU001_000011_E04. BP911971... CL204Contig1 Show BP911971 Clone id YMU001_000011_E04 Library YMU01 Length 469 Definition Adiantum cap...illus-veneris mRNA. clone: YMU001_000011_E04. Accession BP911971 Tissue type prothallium Developmental stage..., Nucleic Acids Res. 25:3389-3402. Query= BP911971|Adiantum capillus-veneris mRNA...n database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP911971|Adiantum capillus-veneris mRNA,

  9. AcEST: BP919715 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000128_C11 494 Adiantum capillus-veneris mRNA. clone: YMU001_000128_C11. BP91971...5 CL3828Contig1 Show BP919715 Clone id YMU001_000128_C11 Library YMU01 Length 494 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000128_C11. Accession BP919715 Tissue type prothallium Developmental stag...ion of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91971... a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP919715|Adia

  10. AcEST: BP919717 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000128_D01 387 Adiantum capillus-veneris mRNA. clone: YMU001_000128_D01. BP919717 - Show BP91971...is mRNA. clone: YMU001_000128_D01. Accession BP919717 Tissue type prothallium Developmental stage - Contig I...ration of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP919717|Adiantum capill... programs, Nucleic Acids Res. 25:3389-3402. Query= BP919717|Adiantum capillus-veneris mRNA, clone: YMU001_00

  11. AcEST: BP919711 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000128_C07 523 Adiantum capillus-veneris mRNA. clone: YMU001_000128_C07. BP919711 - Show BP91971...is mRNA. clone: YMU001_000128_C07. Accession BP919711 Tissue type prothallium Developmental stage - Contig I...eic Acids Res. 25:3389-3402. Query= BP919711|Adiantum capillus-veneris mRNA, clone: YMU001_000128_C07. (523 ... of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP919711|Adiantum capillus-ven

  12. AcEST: BP918818 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000117_G09 538 Adiantum capillus-veneris mRNA. clone: YMU001_000117_G09. BP918818 - Show BP918818...is mRNA. clone: YMU001_000117_G09. Accession BP918818 Tissue type prothallium Developmental stage - Contig I...s. 25:3389-3402. Query= BP918818|Adiantum capillus-veneris mRNA, clone: YMU001_000117_G09. (525 letters) Dat...abase search programs, Nucleic Acids Res. 25:3389-3402. Query= BP918818|Adiantum capillus-veneris mRNA, clon

  13. AcEST: BP912219 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000016_E07 496 Adiantum capillus-veneris mRNA. clone: YMU001_000016_E07. BP912219 - Show BP912219...is mRNA. clone: YMU001_000016_E07. Accession BP912219 Tissue type prothallium Developmental stage - Contig I...tion of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP912219...e search programs, Nucleic Acids Res. 25:3389-3402. Query= BP912219|Adiantum capillus-veneris mRNA, clone: Y

  14. AcEST: BP919775 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000129_A08 507 Adiantum capillus-veneris mRNA. clone: YMU001_000129_A08. BP919775 - Show BP919775...is mRNA. clone: YMU001_000129_A08. Accession BP919775 Tissue type prothallium Developmental stage - Contig I...h programs, Nucleic Acids Res. 25:3389-3402. Query= BP919775|Adiantum capillus-ve... database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP919775|Adiantum capillus-veneris mRNA,

  15. AcEST: BP916775 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000091_D11 369 Adiantum capillus-veneris mRNA. clone: YMU001_000091_D11. BP916775 - Show BP916775...is mRNA. clone: YMU001_000091_D11. Accession BP916775 Tissue type prothallium Developmental stage - Contig I...rams, Nucleic Acids Res. 25:3389-3402. Query= BP916775|Adiantum capillus-veneris mRNA, clone: YMU001_000091_...programs, Nucleic Acids Res. 25:3389-3402. Query= BP916775|Adiantum capillus-veneris mRNA, clone: YMU001_000

  16. AcEST: BP917753 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_A05 482 Adiantum capillus-veneris mRNA. clone: YMU001_000105_A05. BP91775...3 CL2810Contig1 Show BP917753 Clone id YMU001_000105_A05 Library YMU01 Length 482 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000105_A05. Accession BP917753 Tissue type prothallium Developmental stag... new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917753|Adiant...arch programs, Nucleic Acids Res. 25:3389-3402. Query= BP917753|Adiantum capillus

  17. AcEST: BP914775 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000062_G03 488 Adiantum capillus-veneris mRNA. clone: YMU001_000062_G03. BP914775... CL4173Contig1 Show BP914775 Clone id YMU001_000062_G03 Library YMU01 Length 488 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000062_G03. Accession BP914775 Tissue type prothallium Developmental stag...new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP914775...leic Acids Res. 25:3389-3402. Query= BP914775|Adiantum capillus-veneris mRNA, clo

  18. AcEST: BP920775 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000141_D06 589 Adiantum capillus-veneris mRNA. clone: YMU001_000141_D06. BP920775 - Show BP920775...is mRNA. clone: YMU001_000141_D06. Accession BP920775 Tissue type prothallium Developmental stage - Contig I...in database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920775|Adi...ms, Nucleic Acids Res. 25:3389-3402. Query= BP920775|Adiantum capillus-veneris mRNA, clone: YMU001_000141_D0

  19. AcEST: BP917750 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_A02 462 Adiantum capillus-veneris mRNA. clone: YMU001_000105_A02. BP91775...0 CL3417Contig1 Show BP917750 Clone id YMU001_000105_A02 Library YMU01 Length 462 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000105_A02. Accession BP917750 Tissue type prothallium Developmental stag...atabase search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917750|Adiantu...base search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917750|Adiantum capillus-veneris mRNA, clone

  20. AcEST: BP915775 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000076_F10 565 Adiantum capillus-veneris mRNA. clone: YMU001_000076_F10. BP915775 - Show BP915775...is mRNA. clone: YMU001_000076_F10. Accession BP915775 Tissue type prothallium Developmental stage - Contig I...n database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP915775|Adiantum capillus-veneris mRNA,...e search programs, Nucleic Acids Res. 25:3389-3402. Query= BP915775|Adiantum capi

  1. AcEST: BP913775 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000035_B05 311 Adiantum capillus-veneris mRNA. clone: YMU001_000035_B05. BP913775 - Show BP913775...is mRNA. clone: YMU001_000035_B05. Accession BP913775 Tissue type prothallium Developmental stage - Contig I...tion of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP913775|Adiantum capillus...d PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP913775

  2. AcEST: BP917758 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_A12 315 Adiantum capillus-veneris mRNA. clone: YMU001_000105_A12. BP91775...8 CL2869Contig1 Show BP917758 Clone id YMU001_000105_A12 Library YMU01 Length 315 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000105_A12. Accession BP917758 Tissue type prothallium Developmental stag... Gapped BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91775...rograms, Nucleic Acids Res. 25:3389-3402. Query= BP917758|Adiantum capillus-vener

  3. AcEST: BP919367 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000124_C07 523 Adiantum capillus-veneris mRNA. clone: YMU001_000124_C07. BP919367... CL601Contig1 Show BP919367 Clone id YMU001_000124_C07 Library YMU01 Length 523 Definition Adiantum cap...illus-veneris mRNA. clone: YMU001_000124_C07. Accession BP919367 Tissue type prothallium Developmental stage...es. 25:3389-3402. Query= BP919367|Adiantum capillus-veneris mRNA, clone: YMU001_000124_C07. (523 letters) Da...ase search programs, Nucleic Acids Res. 25:3389-3402. Query= BP919367|Adiantum ca

  4. AcEST: BP914367 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000058_B03 578 Adiantum capillus-veneris mRNA. clone: YMU001_000058_B03. BP914367 - Show BP914367...is mRNA. clone: YMU001_000058_B03. Accession BP914367 Tissue type prothallium Developmental stage - Contig I...w generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP914367|Adiantum ...AST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP914367|

  5. AcEST: BP913671 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000033_A02 620 Adiantum capillus-veneris mRNA. clone: YMU001_000033_A02. BP913671 - Show BP91367...is mRNA. clone: YMU001_000033_A02. Accession BP913671 Tissue type prothallium Developmental stage - Contig I... Nucleic Acids Res. 25:3389-3402. Query= BP913671|Adiantum capillus-veneris mRNA, clone: YMU001_000033_A02. ...database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP913671|Adiantum capillus-veneris mRNA, c

  6. AcEST: BP913676 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000033_A07 497 Adiantum capillus-veneris mRNA. clone: YMU001_000033_A07. BP913676 - Show BP91367...is mRNA. clone: YMU001_000033_A07. Accession BP913676 Tissue type prothallium Developmental stage - Contig I... programs, Nucleic Acids Res. 25:3389-3402. Query= BP913676|Adiantum capillus-ven...ase search programs, Nucleic Acids Res. 25:3389-3402. Query= BP913676|Adiantum capillus-veneris mRNA, clone:

  7. AcEST: BP917367 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000100_A02 384 Adiantum capillus-veneris mRNA. clone: YMU001_000100_A02. BP917367 - Show BP917367...is mRNA. clone: YMU001_000100_A02. Accession BP917367 Tissue type prothallium Developmental stage - Contig I...ration of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917367|Adiantum capill...tein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917367|Adiantum capillus-veneris mR

  8. AcEST: BP913367 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000029_E01 457 Adiantum capillus-veneris mRNA. clone: YMU001_000029_E01. BP913367 - Show BP913367...is mRNA. clone: YMU001_000029_E01. Accession BP913367 Tissue type prothallium Developmental stage - Contig I...leic Acids Res. 25:3389-3402. Query= BP913367|Adiantum capillus-veneris mRNA, clo...AST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP913367

  9. AcEST: BP913675 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000033_A06 440 Adiantum capillus-veneris mRNA. clone: YMU001_000033_A06. BP913675 - Show BP91367...is mRNA. clone: YMU001_000033_A06. Accession BP913675 Tissue type prothallium Developmental stage - Contig I... Nucleic Acids Res. 25:3389-3402. Query= BP913675|Adiantum capillus-veneris mRNA,...ST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91367

  10. AcEST: BP913677 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000033_A08 517 Adiantum capillus-veneris mRNA. clone: YMU001_000033_A08. BP913677 - Show BP91367...is mRNA. clone: YMU001_000033_A08. Accession BP913677 Tissue type prothallium Developmental stage - Contig I...n of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91367...new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91367

  11. AcEST: BP913679 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000033_A11 505 Adiantum capillus-veneris mRNA. clone: YMU001_000033_A11. BP91367...9 CL11Contig1 Show BP913679 Clone id YMU001_000033_A11 Library YMU01 Length 505 Definition Adiantum capi...llus-veneris mRNA. clone: YMU001_000033_A11. Accession BP913679 Tissue type prothallium Developmental stage ...on of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91367...eneration of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP913679|Adiantum cap

  12. AcEST: BP920367 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000136_C07 537 Adiantum capillus-veneris mRNA. clone: YMU001_000136_C07. BP920367 - Show BP920367...is mRNA. clone: YMU001_000136_C07. Accession BP920367 Tissue type prothallium Developmental stage - Contig I...BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920367...grams, Nucleic Acids Res. 25:3389-3402. Query= BP920367|Adiantum capillus-veneris mRNA, clone: YMU001_000136

  13. AcEST: BP913674 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000033_A05 472 Adiantum capillus-veneris mRNA. clone: YMU001_000033_A05. BP913674 - Show BP91367...is mRNA. clone: YMU001_000033_A05. Accession BP913674 Tissue type prothallium Developmental stage - Contig I...cleic Acids Res. 25:3389-3402. Query= BP913674|Adiantum capillus-veneris mRNA, cl...rams, Nucleic Acids Res. 25:3389-3402. Query= BP913674|Adiantum capillus-veneris mRNA, clone: YMU001_000033_

  14. AcEST: BP913672 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000033_A03 488 Adiantum capillus-veneris mRNA. clone: YMU001_000033_A03. BP913672 - Show BP91367...is mRNA. clone: YMU001_000033_A03. Accession BP913672 Tissue type prothallium Developmental stage - Contig I...se search programs, Nucleic Acids Res. 25:3389-3402. Query= BP913672|Adiantum cap...ion of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP913672|Adiantum capillus-

  15. AcEST: BP913678 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000033_A10 511 Adiantum capillus-veneris mRNA. clone: YMU001_000033_A10. BP913678 - Show BP91367...is mRNA. clone: YMU001_000033_A10. Accession BP913678 Tissue type prothallium Developmental stage - Contig I...ic Acids Res. 25:3389-3402. Query= BP913678|Adiantum capillus-veneris mRNA, clone: YMU001_000033_A10. (511 l...s Res. 25:3389-3402. Query= BP913678|Adiantum capillus-veneris mRNA, clone: YMU001_000033_A10. (511 letters)

  16. AcEST: BP918367 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000112_F09 563 Adiantum capillus-veneris mRNA. clone: YMU001_000112_F09. BP918367 - Show BP918367...is mRNA. clone: YMU001_000112_F09. Accession BP918367 Tissue type prothallium Developmental stage - Contig I...ucleic Acids Res. 25:3389-3402. Query= BP918367|Adiantum capillus-veneris mRNA, clone: YMU001_000112_F09. (5...protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP918367|Adiantum capillus-veneris

  17. AcEST: BP912343 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000018_A05 305 Adiantum capillus-veneris mRNA. clone: YMU001_000018_A05. BP912343 - Show BP91234...is mRNA. clone: YMU001_000018_A05. Accession BP912343 Tissue type prothallium Developmental stage - Contig I... and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91234...ration of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP912343|Adiantum capill

  18. AcEST: BP912346 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000018_A08 453 Adiantum capillus-veneris mRNA. clone: YMU001_000018_A08. BP912346 - Show BP91234...is mRNA. clone: YMU001_000018_A08. Accession BP912346 Tissue type prothallium Developmental stage - Contig I...ic Acids Res. 25:3389-3402. Query= BP912346|Adiantum capillus-veneris mRNA, clone...nd PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91234

  19. AcEST: BP921234 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000147_C09 556 Adiantum capillus-veneris mRNA. clone: YMU001_000147_C09. BP921234... CL2723Contig1 Show BP921234 Clone id YMU001_000147_C09 Library YMU01 Length 556 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000147_C09. Accession BP921234 Tissue type prothallium Developmental stag... database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP921234|Adiantum capillus-veneris mRNA, ...tein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP921234|A

  20. AcEST: BP912344 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000018_A06 486 Adiantum capillus-veneris mRNA. clone: YMU001_000018_A06. BP91234...4 CL599Contig1 Show BP912344 Clone id YMU001_000018_A06 Library YMU01 Length 486 Definition Adiantum cap...illus-veneris mRNA. clone: YMU001_000018_A06. Accession BP912344 Tissue type prothallium Developmental stage... search programs, Nucleic Acids Res. 25:3389-3402. Query= BP912344|Adiantum capil...leic Acids Res. 25:3389-3402. Query= BP912344|Adiantum capillus-veneris mRNA, clone: YMU001_000018_A06. (468

  1. AcEST: BP912340 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000018_A02 465 Adiantum capillus-veneris mRNA. clone: YMU001_000018_A02. BP91234...0 CL1330Contig1 Show BP912340 Clone id YMU001_000018_A02 Library YMU01 Length 465 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000018_A02. Accession BP912340 Tissue type prothallium Developmental stag...Nucleic Acids Res. 25:3389-3402. Query= BP912340|Adiantum capillus-veneris mRNA, ...new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91234

  2. AcEST: BP912349 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000018_A11 539 Adiantum capillus-veneris mRNA. clone: YMU001_000018_A11. BP912349 - Show BP91234...is mRNA. clone: YMU001_000018_A11. Accession BP912349 Tissue type prothallium Developmental stage - Contig I... a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91234...ucleic Acids Res. 25:3389-3402. Query= BP912349|Adiantum capillus-veneris mRNA, clone: YMU001_000018_A11. (5

  3. AcEST: BP912342 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000018_A04 553 Adiantum capillus-veneris mRNA. clone: YMU001_000018_A04. BP91234...2 CL2124Contig1 Show BP912342 Clone id YMU001_000018_A04 Library YMU01 Length 553 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000018_A04. Accession BP912342 Tissue type prothallium Developmental stag...ase search programs, Nucleic Acids Res. 25:3389-3402. Query= BP912342|Adiantum capillus-veneris mRNA, clone:...ion of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP912342|Adiantum capillus-

  4. AcEST: BP920120 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_C05 434 Adiantum capillus-veneris mRNA. clone: YMU001_000133_C05. BP920120 - Show BP92012...is mRNA. clone: YMU001_000133_C05. Accession BP920120 Tissue type prothallium Developmental stage - Contig I...T: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920120|Ad...otein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920120|

  5. AcEST: BP920124 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_C09 380 Adiantum capillus-veneris mRNA. clone: YMU001_000133_C09. BP920124 - Show BP92012...is mRNA. clone: YMU001_000133_C09. Accession BP920124 Tissue type prothallium Developmental stage - Contig I...rotein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920124|Adiantum capillus-veneris ...ic Acids Res. 25:3389-3402. Query= BP920124|Adiantum capillus-veneris mRNA, clone: YMU001_000133_C09. (380 l

  6. AcEST: BP920127 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_D02 541 Adiantum capillus-veneris mRNA. clone: YMU001_000133_D02. BP92012...7 CL3843Contig1 Show BP920127 Clone id YMU001_000133_D02 Library YMU01 Length 541 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000133_D02. Accession BP920127 Tissue type prothallium Developmental stag...n of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920127|Adiantum capillus-ve... database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920127|Adian

  7. AcEST: BP920125 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_C12 422 Adiantum capillus-veneris mRNA. clone: YMU001_000133_C12. BP920125 - Show BP92012...is mRNA. clone: YMU001_000133_C12. Accession BP920125 Tissue type prothallium Developmental stage - Contig I...nd PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP92012...and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP92012

  8. AcEST: BP920121 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_C06 542 Adiantum capillus-veneris mRNA. clone: YMU001_000133_C06. BP920121 - Show BP92012...is mRNA. clone: YMU001_000133_C06. Accession BP920121 Tissue type prothallium Developmental stage - Contig I...ds Res. 25:3389-3402. Query= BP920121|Adiantum capillus-veneris mRNA, clone: YMU001_000133_C06. (542 letters...Res. 25:3389-3402. Query= BP920121|Adiantum capillus-veneris mRNA, clone: YMU001_000133_C06. (542 letters) D

  9. AcEST: BP912012 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000012_A06 542 Adiantum capillus-veneris mRNA. clone: YMU001_000012_A06. BP912012... CL2421Contig1 Show BP912012 Clone id YMU001_000012_A06 Library YMU01 Length 542 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000012_A06. Accession BP912012 Tissue type prothallium Developmental stag...rams, Nucleic Acids Res. 25:3389-3402. Query= BP912012|Adiantum capillus-veneris ...d BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP912012

  10. AcEST: BP920129 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_D04 550 Adiantum capillus-veneris mRNA. clone: YMU001_000133_D04. BP92012...9 CL1276Contig1 Show BP920129 Clone id YMU001_000133_D04 Library YMU01 Length 550 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000133_D04. Accession BP920129 Tissue type prothallium Developmental stag...n of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920129|Adiantum capillus-ve...f protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920129|Adiantum capillus-vener

  11. A recurrent deletion in the antithrombin gene, AT106-108(-6 bp), identified by DNA heteroduplex detection

    Energy Technology Data Exchange (ETDEWEB)

    Olds, R.J.; Thein, S.L. (John Radcliffe Hospital, Oxford (United Kingdom)); Lane, D.A. (Charing Cross and Westminster Medical School, London (United Kingdom)); Beresford, C.H.; Hughes, P.M. (Univ. of Otago Medical School, Dunedin (New Zealand)); Abildgaard, U. (Aker Hospital, Oslo (Norway))

    1993-04-01

    Antithrombin is the major physiological inhibitor of the activated serine proteinases of the coagulation system. Hereditary deficiency of the inhibitor is transmitted in an autosomal dominant pattern and is associated with a risk of venous thromboembotic disease in affected individuals. In the classical form of deficiency, type Ia, plasma antithrombin is reduced to approximately half normal in both functional and immunological assays. The authors report here the identification of a recurrent mutation as the basis for type Ia deficiency in two independent kindreds, one from New Zealand and the other from Norway, and demonstrate the utility of DNA heteroduplex detection as a method for screening for the presence of mutations. Standard functional and immunological assays for plasma antithrombin showed levels of approximately half normal in several members of both kindreds, consistent with the classification as type Ia deficiency. The plasma of the proband from the Norwegian kindred was examined by crossed immunoelectrophoresis, in the presence or absence of heparin in the first dimension, and an abnormal component that may have represented a variant form of the inhibitor was not identified. In both families affected members have had episodes of venous thrombosis, although some carriers of the abnormal allele, as confirmed in the current study, so far have not had clinical thrombotic disease. 7 refs., 2 figs.

  12. The 9-bp deletion at position 8272 in region V of mitochondrial DNA is associated with renal cell carcinoma outcome.

    Science.gov (United States)

    Bai, Yaling; Guo, Zhanjun; Xu, Jinsheng; Zhang, Junxia; Cui, Liwen; Zhang, Huiran; Zhang, Shenglei

    2016-05-01

    Mitochondrial DNA (mtDNA) is considered a mutation hotspot in various types of tumors, and mitochondrial DNA microsatellite instability (mtMSI) is associated with various cancers. We had previously identified cancer risk-associated MSIs in the D-loop region of mtDNA in renal cell carcinoma (RCC) patients. In the present study, we further investigated the association of MSIs in the non-D-loop region of mtDNA with cancer risk and outcome of RCC. Six microsatellite loci (5892, 8272, 8280, 8281, 8289, 9777) in the non-D-loop of mtDNA were assessed. The CCCCCTCTA at position 8272 was associated with cancer outcome in an overall multivariate analysis (relative risk, 1.599; 95%CI, 1.365-1.872; p < 0.001). mtMSI at position 8272 can therefore be used as an independent prognostic marker for RCC patients. PMID:25329286

  13. Integration-free T cell-derived human induced pluripotent stem cells (iPSCs) from a patient with lymphedema-distichiasis syndrome (LDS) carrying an insertion-deletion complex mutation in the FOXC2 gene.

    Science.gov (United States)

    Itoh, Munenari; Kawagoe, Shiho; Okano, Hirotaka James; Nakagawa, Hidemi

    2016-05-01

    Expanded human T cells from a Japanese male with lymphedema-distichiasis syndrome (LDS) were used to generate integration-free induced pluripotent stem cells (iPSCs) by exogenous expression of four reprogramming factors, OCT3/4, SOX2, cMYC, KLF4, using Sendai virus vector (SeVdp). The authenticity of established iPSC line, LDS-iPSC8, was confirmed by the expression of stem cell markers and the differentiation capability into three germ layers. LDS-iPSC8 may be a useful cell resource for the establishment of in vitro LDS modeling and the study for vascular and lymph vessel development. PMID:27346194

  14. Deletion of GPIHBP1 causing severe chylomicronemia.

    Science.gov (United States)

    Rios, Jonathan J; Shastry, Savitha; Jasso, Juan; Hauser, Natalie; Garg, Abhimanyu; Bensadoun, André; Cohen, Jonathan C; Hobbs, Helen H

    2012-05-01

    Lipoprotein lipase (LPL) is a hydrolase that cleaves circulating triglycerides to release fatty acids to the surrounding tissues. The enzyme is synthesized in parenchymal cells and is transported to its site of action on the capillary endothelium by glycophosphatidylinositol (GPI)-anchored high-density lipoprotein-binding protein 1 (GPIHBP1). Inactivating mutations in LPL; in its cofactor, apolipoprotein (Apo) C2; or in GPIHBP1 cause severe hypertriglyceridemia. Here we describe an individual with complete deficiency of GPIHBP1. The proband was an Asian Indian boy who had severe chylomicronemia at 2 months of age. Array-based copy-number analysis of his genomic DNA revealed homozygosity for a 17.5-kb deletion that included GPIHBP1. A 44-year-old aunt with a history of hypertriglyceridemia and pancreatitis was also homozygous for the deletion. A bolus of intravenously administered heparin caused a rapid increase in circulating LPL and decreased plasma triglyceride levels in control individuals but not in two GPIHBP1-deficient patients. Thus, short-term treatment with heparin failed to attenuate the hypertriglyceridemia in patients with GPIHBP1 deficiency. The increasing resolution of copy number microarrays and their widespread adoption for routine cytogenetic analysis is likely to reveal a greater role for submicroscopic deletions in Mendelian conditions. We describe the first neonate with complete GPIHBP1 deficiency due to homozygosity for a deletion of GPIHBP1. PMID:22008945

  15. Sequence analysis of 17 NRXN1 deletions

    DEFF Research Database (Denmark)

    Hoeffding, Louise Kristine Enggaard; Hansen, Thomas; Ingason, Andrés;

    2014-01-01

    molecular mechanisms governing such genomic rearrangements may increase our understanding of disease pathology and evolutionary processes. Here we analyse 17 carriers of non-recurrent deletions in the NRXN1 gene, which have been associated with neurodevelopmental disorders, e.g. schizophrenia, autism and...

  16. Familial deletion 18p syndrome: case report

    Directory of Open Access Journals (Sweden)

    Lemyre Emmanuelle

    2006-07-01

    Full Text Available Abstract Background Deletion 18p is a frequent deletion syndrome characterized by dysmorphic features, growth deficiencies, and mental retardation with a poorer verbal performance. Until now, five families have been described with limited clinical description. We report transmission of deletion 18p from a mother to her two daughters and review the previous cases. Case presentation The proband is 12 years old and has short stature, dysmorphic features and moderate mental retardation. Her sister is 9 years old and also has short stature and similar dysmorphic features. Her cognitive performance is within the borderline to mild mental retardation range. The mother also presents short stature. Psychological evaluation showed moderate mental retardation. Chromosome analysis from the sisters and their mother revealed the same chromosomal deletion: 46, XX, del(18(p11.2. Previous familial cases were consistent regarding the transmission of mental retardation. Our family differs in this regard with variable cognitive impairment and does not display poorer verbal than non-verbal abilities. An exclusive maternal transmission is observed throughout those families. Women with del(18p are fertile and seem to have a normal miscarriage rate. Conclusion Genetic counseling for these patients should take into account a greater range of cognitive outcome than previously reported.

  17. Union-Find with Constant Time Deletions

    DEFF Research Database (Denmark)

    Alstrup, Stephen; Thorup, Mikkel; Gørtz, Inge Li;

    2014-01-01

    operations performed, and α_M/N_(n) is a functional inverse of Ackermann’s function. They left open the question whether delete operations can be implemented more efficiently than find operations, for example, in o(log n) worst-case time. We resolve this open problem by presenting a relatively simple...

  18. Deletion analysis of two tandemly arranged virulence genes in myxoma virus, M11L and myxoma growth factor.

    OpenAIRE

    Opgenorth, A; Graham, K.; N. Nation; Strayer, D; McFadden, G

    1992-01-01

    Myxoma virus (MYX) is a leporipoxvirus of rabbits that induces a lethal syndrome characterized by disseminated tumorlike lesions, generalized immunosuppression, and secondary gram-negative bacterial infection. A MYX deletion mutant (vMYX-GF- delta M11L) was constructed to remove the entire myxoma growth factor (MGF) coding sequence and that for the C-terminal five amino acids of the partially overlapping upstream gene, M11L. Unexpectedly, this deletion completely abrogates the capacity of MYX...

  19. Mining for single nucleotide polymorphisms and insertions / deletions in expressed sequence tag libraries of oil palm.

    Science.gov (United States)

    Riju, Aykkal; Chandrasekar, Arumugam; Arunachalam, Vadivel

    2007-01-01

    The oil palm is a tropical oil bearing tree. Recently EST-derived SNPs and SSRs are a free by-product of the currently expanding EST (Expressed Sequence Tag) data bases. The development of high-throughput methods for the detection of SNPs (Single Nucleotide Polymorphism) and small indels (insertion / deletion) has led to a revolution in their use as molecular markers. Available (5452) Oil palm EST sequences were mined from dbEST of NCBI. CAP3 program was used to assemble EST sequences into contigs. Candidate SNPs and Indel polymorphisms were detected using the perl script auto_snip version 1.0 which has used 576 ESTs for detecting SNPs and Indel sites. We found 1180 SNP sites and 137 indel polymorphisms with frequency 1.36 SNPs / 100 bp. Among the six tissues from which the EST libraries had been generated, mesocarp had high frequency of 2.91 SNPs and indels per 100 bp whereas the zygotic embryos had lowest frequency of 0.15 per 100 bp. We also used the Shannon index to analyze the proportion of ten possible types of SNP/indels. ESTs from tissues of normal apex showed highest values of Shannon index (0.60) whereas abnormal apex had least value (0.02). The present report deals the use of Shannon index for comparing SNP/ indel frequencies mined from ESTlibraries and also confirm that the frequency of SNP occurrence in oil palm to use them as markers for genetic studies. PMID:21670789

  20. Insertion and deletion processes in recent human history.

    Directory of Open Access Journals (Sweden)

    Per Sjödin

    Full Text Available BACKGROUND: Although insertions and deletions (indels account for a sizable portion of genetic changes within and among species, they have received little attention because they are difficult to type, are alignment dependent and their underlying mutational process is poorly understood. A fundamental question in this respect is whether insertions and deletions are governed by similar or different processes and, if so, what these differences are. METHODOLOGY/PRINCIPAL FINDINGS: We use published resequencing data from Seattle SNPs and NIEHS human polymorphism databases to construct a genomewide data set of short polymorphic insertions and deletions in the human genome (n = 6228. We contrast these patterns of polymorphism with insertions and deletions fixed in the same regions since the divergence of human and chimpanzee (n = 10,546. The macaque genome is used to resolve all indels into insertions and deletions. We find that the ratio of deletions to insertions is greater within humans than between human and chimpanzee. Deletions segregate at lower frequency in humans, providing evidence for deletions being under stronger purifying selection than insertions. The insertion and deletion rates correlate with several genomic features and we find evidence that both insertions and deletions are associated with point mutations. Finally, we find no evidence for a direct effect of the local recombination rate on the insertion and deletion rate. CONCLUSIONS/SIGNIFICANCE: Our data strongly suggest that deletions are more deleterious than insertions but that insertions and deletions are otherwise generally governed by the same genomic factors.

  1. Commensal microbiota contributes to chronic endocarditis in TAX1BP1 deficient mice.

    Directory of Open Access Journals (Sweden)

    Satoko Nakano

    Full Text Available Tax1-binding protein 1 (Tax1bp1 negatively regulates NF-κB by editing the ubiquitylation of target molecules by its catalytic partner A20. Genetically engineered TAX1BP1-deficient (KO mice develop age-dependent inflammatory constitutions in multiple organs manifested as valvulitis or dermatitis and succumb to premature death. Laser capture dissection and gene expression microarray analysis on the mitral valves of TAX1BP1-KO mice (8 and 16 week old revealed 588 gene transcription alterations from the wild type. SAA3 (serum amyloid A3, CHI3L1, HP, IL1B and SPP1/OPN were induced 1,180-, 361-, 187-, 122- and 101-fold respectively. WIF1 (Wnt inhibitory factor 1 exhibited 11-fold reduction. Intense Saa3 staining and significant I-κBα reduction were reconfirmed and massive infiltration of inflammatory lymphocytes and edema formation were seen in the area. Antibiotics-induced 'germ free' status or the additional MyD88 deficiency significantly ameliorated TAX1BP1-KO mice's inflammatory lesions. These pathological conditions, as we named 'pseudo-infective endocarditis' were boosted by the commensal microbiota who are usually harmless by their nature. This experimental outcome raises a novel mechanistic linkage between endothelial inflammation caused by the ubiquitin remodeling immune regulators and fatal cardiac dysfunction.

  2. Hybrid detectors improved time-lapse confocal microscopy of PML and 53BP1 nuclear body colocalization in DNA lesions.

    Science.gov (United States)

    Foltánková, Veronika; Matula, Pavel; Sorokin, Dmitry; Kozubek, Stanislav; Bártová, Eva

    2013-04-01

    We used hybrid detectors (HyDs) to monitor the trajectories and interactions of promyelocytic leukemia (GFP-PML) nuclear bodies (NBs) and mCherry-53BP1-positive DNA lesions. 53BP1 protein accumulates in NBs that occur spontaneously in the genome or in γ-irradiation-induced foci. When we induced local DNA damage by ultraviolet irradiation, we also observed accumulation of 53BP1 proteins into discrete bodies, instead of the expected dispersed pattern. In comparison with photomultiplier tubes, which are used for standard analysis by confocal laser scanning microscopy, HyDs significantly eliminated photobleaching of GFP and mCherry fluorochromes during image acquisition. The low laser intensities used for HyD-based confocal analysis enabled us to observe NBs for the longer time periods, necessary for studies of the trajectories and interactions of PML and 53BP1 NBs. To further characterize protein interactions, we used resonance scanning and a novel bioinformatics approach to register and analyze the movements of individual PML and 53BP1 NBs. The combination of improved HyD-based confocal microscopy with a tailored bioinformatics approach enabled us to reveal damage-specific properties of PML and 53BP1 NBs. PMID:23410959

  3. Double gene deletion reveals the lack of cooperation between PPARα and PPARβ in skeletal muscle

    International Nuclear Information System (INIS)

    The peroxisome proliferator-activated receptors (PPARs) are involved in the regulation of most of the pathways linked to lipid metabolism. PPARα and PPARβ isotypes are known to regulate muscle fatty acid oxidation and a reciprocal compensation of their function has been proposed. Herein, we investigated muscle contractile and metabolic phenotypes in PPARα-/-, PPARβ-/-, and double PPARα-/- β-/- mice. Heart and soleus muscle analyses show that the deletion of PPARα induces a decrease of the HAD activity (β-oxidation) while soleus contractile phenotype remains unchanged. A PPARβ deletion alone has no effect. However, these mild phenotypes are not due to a reciprocal compensation of PPARβ and PPARα functions since double gene deletion PPARα-PPARβ mostly reproduces the null PPARα-mediated reduced β-oxidation, in addition to a shift from fast to slow fibers. In conclusion, PPARβ is not required for maintaining skeletal muscle metabolic activity and does not compensate the lack of PPARα in PPARα null mice

  4. Induction of autoimmune disease by deletion of CTLA-4 in mice in adulthood.

    Science.gov (United States)

    Klocke, Katrin; Sakaguchi, Shimon; Holmdahl, Rikard; Wing, Kajsa

    2016-04-26

    Cytotoxic T lymphocyte antigen-4 (CTLA-4) is essential for immunological (self-) tolerance, but due to the early fatality of CTLA-4 KO mice, its specific function in central and peripheral tolerance and in different systemic diseases remains to be determined. Here, we further examined the role of CTLA-4 by abrogating CTLA-4 expression in adult mice and compared the resulting autoimmunity that follows with that produced by congenital CTLA-4 deficiency. We found that conditional deletion of CTLA-4 in adult mice resulted in spontaneous lymphoproliferation, hypergammaglobulinemia, and histologically evident pneumonitis, gastritis, insulitis, and sialadenitis, accompanied by organ-specific autoantibodies. However, in contrast to congenital deficiency, this was not fatal. CTLA-4 deletion induced preferential expansion of CD4(+)Foxp3(+) Treg cells. However, T cells from CTLA-4-deficient inducible KO mice were able to adoptively transfer the diseases into T cell-deficient mice. Notably, cell transfer of thymocytes de novo produced myocarditis, otherwise not observed in donor mice depleted in adulthood. Moreover, CTLA-4 deletion in adult mice had opposing impacts on induced autoimmune models. Thus, although CTLA-4-deficient mice had more severe collagen-induced arthritis (CIA), they were protected against peptide-induced experimental autoimmune encephalomyelitis (EAE); however, onset of protein-induced EAE was only delayed. Collectively, this indicates that CTLA-4 deficiency affects both central and peripheral tolerance and Treg cell-mediated suppression. PMID:27071130

  5. Deletions and candidate genes in Williams syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Perez Jurado, L.A.; Peoples, R.; Francke, U. [Stanford Univ. CA (United States)] [and others

    1994-09-01

    Hemizygosity at the elastin locus (ELN) on chromosome 7q11.23 has recently been reported in several familial and sporadic cases of the developmental disorder, Williams syndrome (WS). Because the deletion is greater than the span of the ELN gene, a contiguous gene deletion syndrome has been suggested as the probable molecular basis for this condition. Thus far, neither the size of the deletion(s), nor other genes within it are known. We have analyzed samples from 27 sporadic WS patients by genotyping two multiallelic ELN intragenic polymorphisms, detectable by PCR amplification, and by Southern blotting for ELN gene dosage. Twenty four patients were hemizygous at the ELN locus while 3 showed no deletion or detectable rearrangement. Genotype studies on parental DNA were informative in 12 of the deletions. All 12 were due to de novo events, 8 in the maternal and 4 in the paternal chromosome. In an attempt to identify genes involved in WS we are also using a candidate gene approach. Delayed clearance of an exogenous calcium load with normal or slightly increased calcitonin levels in serum has been documented in WS patients suggesting a defective calcitonin action or calcium sensing function. The calcitonin receptor (CTR) gene is, therefore, a good candidate since CTR has a dual role as a hormonal receptor for calcitonin and an extracellular calcium sensor. We have mapped the CTR gene to chromosome 7q21.1 by PCR-SSCA of somatic cell hybrids and FISH analysis. Using two color FISH with probes for ELN and CTR, both loci are located on 7q at a distance of {approximately}10 Mb, CTR being telomeric. Our CTR probe does not detect any genomic abnormality by FISH or Southern blot in the patients` samples analyzed. We have identified a diallelic polymorphism in the CTR cDNA and are currently testing the hypothesis of an impaired CTR expression as responsible for some of the clinical features of WS by analysing the CTR transcripts by RT-PCR.

  6. Probabilistic deletion of copies of linearly independent quantum states

    International Nuclear Information System (INIS)

    We show that each of two copies of the nonorthogonal states randomly selected from a certain set S can be probabilistically deleted by a general unitary-reduction operation if and only if the states are linearly independent. We derive a tight bound on the best possible deleting efficiencies. These results for 2→1 probabilistic deleting are also generalized into the case of N→M deleting (N,M positive integers and N>M)

  7. Vaccination of rhesus macaques with a vif-deleted simian immunodeficiency virus proviral DNA vaccine

    International Nuclear Information System (INIS)

    Studies in non-human primates, with simian immunodeficiency virus (SIV) and simian/human immunodeficiency virus (SHIV) have demonstrated that live-attenuated viral vaccines are highly effective; however these vaccine viruses maintain a low level of pathogenicity. Lentivirus attenuation associated with deletion of the viral vif gene carries a significantly reduced risk for pathogenicity, while retaining the potential for virus replication of low magnitude in the host. This report describes a vif-deleted simian immunodeficiency virus (SIV)mac239 provirus that was tested as an attenuated proviral DNA vaccine by inoculation of female rhesus macaques. SIV-specific interferon-γ enzyme-linked immunospot responses of low magnitude were observed after immunization with plasmid containing the vif-deleted SIV provirus. However, vaccinated animals displayed strong sustained virus-specific T cell proliferative responses and increasing antiviral antibody titers. These immune responses suggested either persistent vaccine plasmid expression or low level replication of vif-deleted SIV in the host. Immunized and unvaccinated macaques received a single high dose vaginal challenge with pathogenic SIVmac251. A transient suppression of challenge virus load and a greater median survival time was observed for vaccinated animals. However, virus loads for vaccinated and unvaccinated macaques were comparable by twenty weeks after challenge and overall survival curves for the two groups were not significantly different. Thus, a vif-deleted SIVmac239 proviral DNA vaccine is immunogenic and capable of inducing a transient suppression of pathogenic challenge virus, despite severe attenuation of the vaccine virus

  8. Innate BALB/c enteric epithelial responses to Trichinella spiralis: inducible expression of a novel goblet cell lectin, intelectin-2, and its natural deletion in C57BL/10 mice.

    Science.gov (United States)

    Pemberton, Alan D; Knight, Pamela A; Gamble, John; Colledge, William H; Lee, Jin-Kyu; Pierce, Michael; Miller, Hugh R P

    2004-08-01

    Infection of mice with the nematode parasite Trichinella spiralis induces changes in the proteome of the jejunal epithelium, including substantial up-regulation of a novel variant of interlectin. In this study we sequence this novel lectin, termed intelectin-2, and compare expression levels during T. spiralis infection of resistant (BALB/c) with susceptible (C57BL/10) mouse strains. Intelectin-2 was cloned and sequenced from BALB/c mRNA extracted on day 14 of infection, and was found to have 91% amino acid identity with intelectin (within our study termed intelectin-1). Intelectin-2 transcripts were up-regulated early (day 3) during infection with T. spiralis in BALB/c mice, suggesting an innate response, and levels remained high through to day 14 (time of parasite rejection). Immunohistochemistry of jejunal sections with a rabbit polyclonal Ab to Xenopus laevis 35-kDa cortical granule lectin (XL35; 68% identity with intelectin-2) followed a similar pattern, with intense labeling of goblet and Paneth cells at day 14. However, intelectin-2 transcripts and protein were absent, and immunohistochemistry negative when C57BL/10 mice were infected with T. spiralis. Genomic PCR and Southern blotting confirmed that the intelectin-2 gene is absent from the C57BL/10 genome. The presence of intelectin-2 in resistant BALB/c mice, its absence from the susceptible C57BL/10 strain and the kinetics of its up-regulation during T. spiralis infection suggest that this novel lectin may serve a protective role in the innate immune response to parasite infection. PMID:15265922

  9. 42 CFR 401.118 - Deletion of identifying details.

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 2 2010-10-01 2010-10-01 false Deletion of identifying details. 401.118 Section... Deletion of identifying details. When CMS publishes or otherwise makes available an opinion or order... identifying details will be deleted....

  10. Interstitial deletion of the short arm of chromosome 4.

    OpenAIRE

    Ray, M; Evans, J.; Rockman-Greenberg, C; Wickstrom, D

    1984-01-01

    A 17 year old girl investigated for mental retardation and minor anomalies was found to have an interstitial deletion of 4p. Her clinical and cytogenetic findings are compared with previous reported case of interstitial 4p deletion and with terminal 4p--deletions (Wolf-Hirschhorn syndrome).

  11. Mitochondrial common deletion, a potential biomarker for cancer occurrence, is selected against in cancer background: a meta-analysis of 38 studies.

    Science.gov (United States)

    Nie, Hezhongrong; Shu, Hongying; Vartak, Rasika; Milstein, Amanda Claire; Mo, Yalin; Hu, Xiaoqin; Fang, Hezhi; Shen, Lijun; Ding, Zhinan; Lu, Jianxin; Bai, Yidong

    2013-01-01

    Mitochondrial dysfunction has been long proposed to play a major role in tumorigenesis. Mitochondrial DNA (mtDNA) mutations, especially the mtDNA 4,977 bp deletion has been found in patients of various types of cancer. In order to comprehend the mtDNA 4,977 bp deletion status in various cancer types, we performed a meta-analysis composed of 33 publications, in which a total of 1613 cancer cases, 1516 adjacent normals and 638 healthy controls were included. When all studies were pooled, we found that cancerous tissue carried a lower mtDNA 4,977 bp deletion frequency than adjacent non-cancerous tissue (OR = 0.43, 95% CI = 0.20-0.92, P = 0.03 for heterogeneity test, I(2) = 91.5%) among various types of cancer. In the stratified analysis by cancer type the deletion frequency was even lower in tumor tissue than in adjacent normal tissue of breast cancer (OR = 0.19, 95% CI = 0.06-0.61, P = 0.005 for heterogeneity test, I(2)= 82.7%). Interestingly, this observation became more significant in the stratified studies with larger sample sizes (OR = 0.70, 95% CI = 0.58-0.86, P = 0.0005 for heterogeneity test, I(2) = 95.1%). Furthermore, when compared with the normal tissue from the matched healthy controls, increased deletion frequencies were observed in both adjacent non-cancerous tissue (OR = 3.02, 95% CI = 2.13-4.28, Ptime being selected against in various types of carcinoma tissues. Larger and better-designed studies are still warranted to confirm these findings. PMID:23861839

  12. Rac1 deletion causes thymic atrophy.

    Directory of Open Access Journals (Sweden)

    Lukas Hunziker

    Full Text Available The thymic stroma supports T lymphocyte development and consists of an epithelium maintained by thymic epithelial progenitors. The molecular pathways that govern epithelial homeostasis are poorly understood. Here we demonstrate that deletion of Rac1 in Keratin 5/Keratin 14 expressing embryonic and adult thymic epithelial cells leads to loss of the thymic epithelial compartment. Rac1 deletion led to an increase in c-Myc expression and a generalized increase in apoptosis associated with a decrease in thymic epithelial proliferation. Our results suggest Rac1 maintains the epithelial population, and equilibrium between Rac1 and c-Myc may control proliferation, apoptosis and maturation of the thymic epithelial compartment. Understanding thymic epithelial maintenance is a step toward the dual goals of in vitro thymic epithelial cell culture and T cell differentiation, and the clinical repair of thymic damage from graft-versus-host-disease, chemotherapy or irradiation.

  13. Orbital deletion procedure and its applications

    Institute of Scientific and Technical Information of China (English)

    莫亦荣; 林梦海; 吴玮; 张乾二

    1999-01-01

    The orbital deletion procedure is introduced, which is suited to quantitatively investigating the electronic delocalization effiect in earboeations and boranes. While the routine, ab initio molecular orbital methods can generate wavefunetions for real systems where all electrons are delocalized, the present orbital deletion procedure can generate wavefunctions for hypothetical reference molecules where electronic delocalization effect is deactivated. The latter wavefunetion normlly corresponds In the most stable resonance structure in terms of the resonance theory. By comparing and analyzing the delocalized and the localized wavefunetions, one can obtain a quantitative and instinct pieture to show how electronic deloealizalion inside a molecule affects the molecular structure, energy as well as other physical properties. Two examples are detailedly discussed. The first is related to the hypercoujugation of alkyl groups in carbocations and a comparison of the order of stability of carbocations is made, T

  14. An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.

    Science.gov (United States)

    Schnur, R E; Trask, B J; van den Engh, G; Punnett, H H; Kistenmacher, M; Tomeo, M A; Naids, R E; Nussbaum, R L

    1989-11-01

    Ocular albinism of the Nettleship-Falls type (OA1) and X-linked ichthyosis (XI) due to steroid sulfatase (STS) deficiency are cosegregating in three cytogenetically normal half-brothers. The mother has patchy fundal hypopigmentation consistent with random X inactivation in an OA1 carrier. Additional phenotypic abnormalities that have been observed in other STS "deletion syndromes" are not present in this family. STS is entirely deleted on Southern blot in the affected males, but the loci MIC2X, DXS31, DXS143, DXS85, DXS43, DXS9, and DXS41 are not deleted. At least part of DXS278 is retained. Flow cytometric analysis of cultured lymphoblasts from one of the XI/OA1 males and his mother detected a deletion of about 3.5 million bp or about 2% of the X chromosome. Southern blot and RFLP analysis in the XI/OA1 family support the order tel-[STS-OA1-DXS278]-DXS9-DXS41-cen. An unrelated patient with the karyotype 46,X,t(X;Y) (p22;q11) retains the DXS143 locus on the derivative X chromosome but loses DXS278, suggesting that DXS278 is the more distal locus and is close to an XI/OA1 deletion boundary. If a contiguous gene deletion is responsible for the observed XI/OA1 phenotype, it localizes OA1 to the Xp22.3 region. PMID:2573275

  15. Role of direct repeat and stem-loop motifs in mtDNA deletions: cause or coincidence?

    Directory of Open Access Journals (Sweden)

    Lakshmi Narayanan Lakshmanan

    Full Text Available Deletion mutations within mitochondrial DNA (mtDNA have been implicated in degenerative and aging related conditions, such as sarcopenia and neuro-degeneration. While the precise molecular mechanism of deletion formation in mtDNA is still not completely understood, genome motifs such as direct repeat (DR and stem-loop (SL have been observed in the neighborhood of deletion breakpoints and thus have been postulated to take part in mutagenesis. In this study, we have analyzed the mitochondrial genomes from four different mammals: human, rhesus monkey, mouse and rat, and compared them to randomly generated sequences to further elucidate the role of direct repeat and stem-loop motifs in aging associated mtDNA deletions. Our analysis revealed that in the four species, DR and SL structures are abundant and that their distributions in mtDNA are not statistically different from randomized sequences. However, the average distance between the reported age associated mtDNA breakpoints and their respective nearest DR motifs is significantly shorter than what is expected of random chance in human (p10 bp tend to decrease with increasing lifespan among the four mammals studied here, further suggesting an evolutionary selection against stable mtDNA misalignments associated with long DRs in long-living animals. In contrast to the results on DR, the probability of finding SL motifs near a deletion breakpoint does not differ from random in any of the four mtDNA sequences considered. Taken together, the findings in this study give support for the importance of stable mtDNA misalignments, aided by long DRs, as a major mechanism of deletion formation in long-living, but not in short-living mammals.

  16. Deletion Diagnostics for Alternating Logistic Regressions

    OpenAIRE

    Preisser, John S; By, Kunthel; Perin, Jamie; Qaqish, Bahjat F.

    2012-01-01

    Deletion diagnostics are introduced for the regression analysis of clustered binary outcomes estimated with alternating logistic regressions, an implementation of generalized estimating equations (GEE) that estimates regression coefficients in a marginal mean model and in a model for the intracluster association given by the log odds ratio. The diagnostics are developed within an estimating equations framework that recasts the estimating functions for association parameters based upon conditi...

  17. AcEST: BP921774 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000154_A05 442 Adiantum capillus-veneris mRNA. clone: YMU001_000154_A05. BP921774 - Show BP92177...is mRNA. clone: YMU001_000154_A05. Accession BP921774 Tissue type prothallium Developmental stage - Contig I...97), Gapped BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25...: 414 TDILNAQTVSLSNDTIAIKDKADEKIIFLFEASTGKPLGDGKLLSHKNEISEVALDQKGL 473 Query: 177 IADRMLIFIDSNNDLYIACIVK----...bjct: 414 TDILNAQTVSLSNDTIAIKDKADEKIIFLFEASTGKPLGDGKLLSHKNEISEIALDQKGL 473 Query: 177 IADRMLIFIDSNNDLYIACIVK

  18. Identification and characterization of a novel corticotropin-releasing hormone-binding protein (CRH-BP) gene from Chinese honeybee (Apis cerana cerana).

    Science.gov (United States)

    Liu, Li; Yu, Xiaoli; Meng, Fei; Guo, Xingqi; Xu, Baohua

    2011-11-01

    Corticotropin-releasing hormone-binding protein (CRH-BP) is an essential secreted glycoprotein for coordinating the neuroendocrine responses to stress by binding either CRHs or its related peptides. A novel CRH-BP gene AccCRH-BP from Apis cerana cerana was identified and characterized. Its genomic DNA was consisted of seven exons and six introns, and shared high similarity with the homologous members from other insects and vertebrates. Homologous and phylogenetic analysis indicated that AccCRH-BP was highly conserved, suggesting the maintenance of conservative structure might be necessary for its biological function. Real-time quantitative PCR revealed that AccCRH-BP was highly expressed in pupa and adult, especially in the head of pupa. However, there was no expression in larval stage. Furthermore, the transcripts of AccCRH-BP in the brain of honeybees were induced by exposure to environmental stresses including UV-light, heat, and cold. The expression level of AccCRH-BP in workers or queens was significantly higher than that of drones. Additionally, analysis of 5'-flanking region of AccCRH-BP revealed a number of putative development and stress transcription factor-binding sites. These data suggest that AccCRH-BP may play important roles in the regulation of honeybee development, and in the central nervous system of the brain to regulate the neuroendocrine stress responses. PMID:22006535

  19. Secure Deletion of Data from SSD

    Directory of Open Access Journals (Sweden)

    Akli Fundo

    2014-08-01

    Full Text Available The deletion of data from storage is an important component on data security. The deletion of entire disc or special files is well-known on hard drives, but this is quite different on SSDs, because they have a different architecture inside, and the main problem is if they serve the same methods like hard drives for data deletion or erasing. The built-in operations are used to do this on SSDs. The purpose of this review is to analyses some methods which are proposed to erase data form SSDs and their results too, to see which of them offers the best choice. In general we will see that the techniques of erasing data from entire disc from hard drives can be used also on SSDs, but there’s a problem with bugs. On the other hand, we cannot use the same techniques of erasing a file from hard drives and SSDs. To make this possible, there are required changes in FTL layer, which is responsible for mapping between logic addresses and physical addresses.

  20. Partial deletion of the LAMA3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse.

    Science.gov (United States)

    Graves, K T; Henney, P J; Ennis, R B

    2009-02-01

    Laminin 5 is a heterotrimeric basement membrane protein integral to the structure and function of the dermal-epidermal junction. It consists of three glycoprotein subunits: the alpha3, beta3 and gamma2 chains, which are encoded by the LAMA3, LAMB3 and LAMC2 genes respectively. A mutation in any of these genes results in the condition known as hereditary junctional epidermolysis bullosa (JEB). A 6589-bp deletion spanning exons 24-27 was found in the LAMA3 gene in American Saddlebred foals born with the skin-blistering condition epitheliogenesis imperfecta. The deletion confirms that this autosomal recessive condition in the American Saddlebred Horse can indeed be classified as JEB and corresponds to Herlitz JEB in humans. A diagnostic test was developed and nine of 175 randomly selected American Saddlebred foals from the 2007 foal crop were found to be carriers of the mutation (frequency of 0.026). PMID:19016681

  1. AcEST: BP917704 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_D07 615 Adiantum capillus-veneris mRNA. clone: YMU001_000104_D07. BP9177...04 CL3815Contig1 Show BP917704 Clone id YMU001_000104_D07 Library YMU01 Length 615 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000104_D07. Accession BP917704 Tissue type prothallium Developmental stag... 25:3389-3402. Query= BP917704|Adiantum capillus-veneris mRNA, clone: YMU001_000104_D07. (568 letters) Datab...C---SICKGYLIDATTITECLHTFCKSCIVRHFY--YSNRCPKCNIVV 177 Query: 374 GGS-PLEKLRADRQLDEVCAKI 312 + PL +R DRQL ++ K

  2. AcEST: BP917755 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_A07 465 Adiantum capillus-veneris mRNA. clone: YMU001_000105_A07. BP9177...55 CL1516Contig1 Show BP917755 Clone id YMU001_000105_A07 Library YMU01 Length 465 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000105_A07. Accession BP917755 Tissue type prothallium Developmental stag...n database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917755|Adia...K+ L+ + +R+ +EC+ ++A LI +D R G + T Sbjct: 129 IEGEGSQKKKLRLISSLF---LRASPIECR--------YLARLILEDMRIGMNVPTILDA 177

  3. AcEST: BP914177 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000042_H06 551 Adiantum capillus-veneris mRNA. clone: YMU001_000042_H06. BP914177... CL2231Contig1 Show BP914177 Clone id YMU001_000042_H06 Library YMU01 Length 551 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000042_H06. Accession BP914177 Tissue type prothallium Developmental stag...LAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP914177...+H AAA GH + + LL R E+D +PLH AA NGH Q E L+ Sbjct: 531 EGYNSIHYAAAYGHRQCLELLLERTNTGFEESDGGALKSPLHLAAYNGHHQALEVLLQSL 590 Query: 177

  4. AcEST: BP917707 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_D10 539 Adiantum capillus-veneris mRNA. clone: YMU001_000104_D10. BP9177...07 CL598Contig1 Show BP917707 Clone id YMU001_000104_D10 Library YMU01 Length 539 Definition Adiantum cap...illus-veneris mRNA. clone: YMU001_000104_D10. Accession BP917707 Tissue type prothallium Developmental stage...ion of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917707|Adiantum capillus-...AEEFILNMPIKPDDVIWKALL 450 Query: 332 GACRLHCHVELAEYAFEQIMKFQPQWAAPYVLMSNMYADKLQNFAELAELHI 177 GACR+ +VE+ + +

  5. AcEST: BP917714 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_E06 519 Adiantum capillus-veneris mRNA. clone: YMU001_000104_E06. BP9177...14 CL2848Contig1 Show BP917714 Clone id YMU001_000104_E06 Library YMU01 Length 519 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000104_E06. Accession BP917714 Tissue type prothallium Developmental stag...s, Nucleic Acids Res. 25:3389-3402. Query= BP917714|Adiantum capillus-veneris mRNA, clone: YMU001_000104_E06...+ Q+ P Sbjct: 79 ELTLRAWIHTEDNKRRTLQRNDIAMAITKFDQFDFLIDIVPRDELKPPKRQEDVRQSVTP 138 Query: 177

  6. AcEST: BP917791 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_E05 415 Adiantum capillus-veneris mRNA. clone: YMU001_000105_E05. BP9177...91 CL2548Contig1 Show BP917791 Clone id YMU001_000105_E05 Library YMU01 Length 415 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000105_E05. Accession BP917791 Tissue type prothallium Developmental stag...a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917791|Adian....9 Identities = 12/22 (54%), Positives = 17/22 (77%) Frame = -3 Query: 242 QPKEILACFLAGCLPPTSGSFS 177 Q KEI+

  7. AcEST: BP921777 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000154_A08 476 Adiantum capillus-veneris mRNA. clone: YMU001_000154_A08. BP921777 - Show BP92177...is mRNA. clone: YMU001_000154_A08. Accession BP921777 Tissue type prothallium Developmental stage - Contig I...n database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP921777|Adia...= +1 Query: 37 HYPDQHPKWAHTPTSHLDTKTTHQMEERRHRPKCQHACHRQHNQNHPKVNNSSRQSSTSP 216 H P QHP H P + + H H H H+ +HP V ++ + P Sbjct: 177... +P HP +H+ + +H TT Q ++++ H H H QH+ + Sbjct: 720 HSHPQHPHSHPHQSHSHSHAHSQPTTTVQPQQQQQHSLSTVVHPHNATPSHHHHHQHSHS 779 Query: 172 HP 177

  8. AcEST: BP918101 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000109_F02 520 Adiantum capillus-veneris mRNA. clone: YMU001_000109_F02. BP918101 - Show BP918101...is mRNA. clone: YMU001_000109_F02. Accession BP918101 Tissue type prothallium Developmental stage - Contig I...ation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP918101...(329), Expect = 2e-30 Identities = 65/161 (40%), Positives = 101/161 (62%), Gaps = 3/161 (1%) Frame = -3 Que...s = 64/161 (39%), Positives = 101/161 (62%), Gaps = 3/161 (1%) Frame = -3 Query:

  9. AcEST: BP918187 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000110_E08 530 Adiantum capillus-veneris mRNA. clone: YMU001_000110_E08. BP91818...7 CL1163Contig1 Show BP918187 Clone id YMU001_000110_E08 Library YMU01 Length 530 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000110_E08. Accession BP918187 Tissue type prothallium Developmental stag...a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91818...jct: 486 DSRTQIVENLLRGTRHEITDHNLEKIRRLTDGY 518 Score = 27.3 bits (59), Expect(2) = 5e-34 Identities = 10/21

  10. AcEST: BP911818 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000009_E07 537 Adiantum capillus-veneris mRNA. clone: YMU001_000009_E07. BP911818... CL3769Contig1 Show BP911818 Clone id YMU001_000009_E07 Library YMU01 Length 537 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000009_E07. Accession BP911818 Tissue type prothallium Developmental stag... generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP911818|Adiantum c...MQ1|PP376_ARATH Pentatricopeptide repeat-containing protei... 47 6e-05 sp|Q9SFV9|PP218_ARATH Pentatricopepti

  11. AcEST: BP918188 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000110_E09 493 Adiantum capillus-veneris mRNA. clone: YMU001_000110_E09. BP91818...8 CL1036Contig1 Show BP918188 Clone id YMU001_000110_E09 Library YMU01 Length 493 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000110_E09. Accession BP918188 Tissue type prothallium Developmental stag...-BLAST: a new generation of protein database search programs, Nucleic Acids Res. ...25:3389-3402. Query= BP918188|Adiantum capillus-veneris mRNA, clone: YMU001_000110_E09. (493 letters) Databa

  12. AcEST: BP918118 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000109_G07 522 Adiantum capillus-veneris mRNA. clone: YMU001_000109_G07. BP918118... CL74Contig1 Show BP918118 Clone id YMU001_000109_G07 Library YMU01 Length 522 Definition Adiantum capi...llus-veneris mRNA. clone: YMU001_000109_G07. Accession BP918118 Tissue type prothallium Developmental stage ... Res. 25:3389-3402. Query= BP918118|Adiantum capillus-veneris mRNA, clone: YMU001_000109_G07. (522 letters) ...P-RRSGAVLSWNARFQ 470 Query: 170 VALGTARGLAYLHEECPKPILHFDVKPQNILLDGNLDAKLADFGLAKLVAR 18

  13. AcEST: BP918182 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000110_E03 505 Adiantum capillus-veneris mRNA. clone: YMU001_000110_E03. BP918182 - Show BP91818...is mRNA. clone: YMU001_000110_E03. Accession BP918182 Tissue type prothallium Developmental stage - Contig I...AST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP918... protei... 140 4e-33 sp|Q9SX45|PPR75_ARATH Pentatricopeptide repeat-containing protei... 139 6e-33 sp|P93011|PP18...RPTDARRVFDEMDVRDSVSYNT 278 Query: 314 IIXXXXXXXXXXXALQLFHEMQKKCVKPDEVTYITVLNACSH 18

  14. AcEST: BP918418 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000113_C06 558 Adiantum capillus-veneris mRNA. clone: YMU001_000113_C06. BP918418... CL2832Contig1 Show BP918418 Clone id YMU001_000113_C06 Library YMU01 Length 558 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000113_C06. Accession BP918418 Tissue type prothallium Developmental stag...ase search programs, Nucleic Acids Res. 25:3389-3402. Query= BP918418|Adiantum capillus-veneris mRNA, clone:...2 Length = 1243 Score = 30.4 bits (67), Expect = 6.1 Identities = 18/58 (31%), Po

  15. AcEST: BP918318 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000112_B03 534 Adiantum capillus-veneris mRNA. clone: YMU001_000112_B03. BP918318 - Show BP918318...is mRNA. clone: YMU001_000112_B03. Accession BP918318 Tissue type prothallium Developmental stage - Contig I...leic Acids Res. 25:3389-3402. Query= BP918318|Adiantum capillus-veneris mRNA, clone: YMU001_000112_B03. (534... protein 2 OS=Neosartorya fischeri (strain ATCC 1020 / DSM 3700 / NRRL 181) GN=dc... + N++K + D S ++ Sbjct: 138 QLVFHK-------GKILVLLPGPPQELEPMLNNAL----NEIKPQPDLSTLSMLFFSIPE 186 Query: 459 LFLD

  16. AcEST: BP918189 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000110_E11 450 Adiantum capillus-veneris mRNA. clone: YMU001_000110_E11. BP91818...9 CL495Contig1 Show BP918189 Clone id YMU001_000110_E11 Library YMU01 Length 450 Definition Adiantum cap...illus-veneris mRNA. clone: YMU001_000110_E11. Accession BP918189 Tissue type prothallium Developmental stage...cleic Acids Res. 25:3389-3402. Query= BP918189|Adiantum capillus-veneris mRNA, cl...QQPMEQSRKEKIKSILRLLRGVIP 186 YG+ T + C ++++ NN + Q S + ++K+K ++ +LR ++P Sbjct: 158 YGNTTAESCCSSYGYNNNNNNNSRK

  17. AcEST: BP921818 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000154_E07 485 Adiantum capillus-veneris mRNA. clone: YMU001_000154_E07. BP921818 - Show BP921818...is mRNA. clone: YMU001_000154_E07. Accession BP921818 Tissue type prothallium Developmental stage - Contig I... programs, Nucleic Acids Res. 25:3389-3402. Query= BP921818|Adiantum capillus-ven...IM domain-containing protein A OS=Dictyostelium discoideum GN=limA PE=2 SV=1 Length = 1183 Score = 31.2 bits...CLLTICENRWLEWHHYYEFSFSIQNVRTSPLEL*LLSAQ 218 E + PIL +L I +N W+H+ + F + +V T + L LLS Q Sbjct: 58 ETYRYTPILAIL

  18. AcEST: BP918186 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000110_E07 514 Adiantum capillus-veneris mRNA. clone: YMU001_000110_E07. BP918186 - Show BP91818...is mRNA. clone: YMU001_000110_E07. Accession BP918186 Tissue type prothallium Developmental stage - Contig I... generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91818...s (75), Expect = 0.60 Identities = 21/69 (30%), Positives = 31/69 (44%) Frame = +2 Query: 185 TAEEGEPASVVLGL.../59 (33%), Positives = 31/59 (52%) Frame = -2 Query: 363 SKTSS*PSKAPCQIQFPSMPSGSFIFTAASPSSHFARGLPFVNLQSSPSTTDAGSPSSA 18

  19. PetroChina and BP Launch Retail Venture in Guangdong

    Institute of Scientific and Technical Information of China (English)

    2004-01-01

    @@ PetroChina and BP launched a gas station business joint venture in South China's Guangdong Province on November 18, marking a further move in BP's foray into China's booming oil fuel retail market. The joint venture will operate a retail network of 500 petrol stations in the province. Called "PetroChina-BP Petroleum Co Ltd" and registered in Jiangmen City of Guangdong Province, the venture is set up as a result of a memorandum of understanding reached with BP's acquisition of 20 percent of the listed shares from PetroChina's global initial public offering as the sole strategic investor in 2000.

  20. AcEST: BP917754 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_A06 425 Adiantum capillus-veneris mRNA. clone: YMU001_000105_A06. BP91775...4 CL28Contig1 Show BP917754 Clone id YMU001_000105_A06 Library YMU01 Length 425 Definition Adiantum capi...llus-veneris mRNA. clone: YMU001_000105_A06. Accession BP917754 Tissue type prothallium Developmental stage ...T and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91775...H R H + S SERR + Sbjct: 1722 ARRSHRSPSERSHHSPSERSHHSPSERRHHSPSERSHCSPSERSHCSPSERRHR 1775 >sp|Q9JIG7|CCD22_MO

  1. AcEST: BP913673 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000033_A04 543 Adiantum capillus-veneris mRNA. clone: YMU001_000033_A04. BP91367...3 CL2745Contig1 Show BP913673 Clone id YMU001_000033_A04 Library YMU01 Length 543 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000033_A04. Accession BP913673 Tissue type prothallium Developmental stag...s, Nucleic Acids Res. 25:3389-3402. Query= BP913673|Adiantum capillus-veneris mRNA, clone: YMU001_000033_A04... +VKL +++KL + A F+ + I F + + D ++ W+ + ++ FW Sbjct: 367 QRQIVKLNMYKKLLYIIYASFLSVLAGSIVSSFIYVGMNTIDMIEKNWRSRF

  2. AcEST: BP920648 [AcEST

    Lifescience Database Archive (English)

    Full Text Available on of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920648|Adiantu...rotein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920648|Adiantum capillus-veneris ...YMU001_000139_G01 166 Adiantum capillus-veneris mRNA. clone: YMU001_000139_G01. BP920648 CL768Conti...g1 Show BP920648 Clone id YMU001_000139_G01 Library YMU01 Length 166 Definition Adiantum cap...on sp|Q5G872|SCUB2_DANRE Signal peptide, CUB and EGF-like domain-cont

  3. The -(α)(5.2) Deletion Detected in a Uruguayan Family: First Case Report in the Americas.

    Science.gov (United States)

    Soler, Ana María; Schelotto, Magdalena; de Oliveira Mota, Natalia; Dorta Ferreira, Roberta; Sonati, Maria de Fatima; da Luz, Julio Abayubá

    2016-08-01

    In Uruguay, α-thalassemia (α-thal) mutations were introduced predominantly by Mediterranean European immigrant populations and by slave trade of African populations. A patient with anemia with hypochromia and microcytosis, refractory to iron treatment and with normal hemoglobin (Hb) electrophoresis was analyzed for α-thal mutations by multiplex gap-polymerase chain reaction (gap-PCR), automated sequencing and multiplex ligation-dependent probe amplification (MLPA) analyses. Agarose gel electrophoresis of the multiplex gap-PCR showed a band of unexpected size (approximately 700 bp) in the samples from the proband and mother. Automated sequencing of the amplified fragment showed the presence of the -(α)(5.2) deletion (NG_000006.1: g.32867_38062del5196) [an α-thal-1 deletion of 5196 nucleotides (nts)]. The MLPA analysis of the proband's sample also showed the presence of the -(α)(5.2) deletion in heterozygous state. We report here the presence of the -(α)(5.2) deletion, for the first time in the Americas, in a Uruguayan family with Italian ancestry, detected with a previously described multiplex gap-PCR. PMID:27492768

  4. Deletion mutation as a means of isolating avirulence genes in flax rust.

    Science.gov (United States)

    Timmis, J N; Whisson, D L; Binns, A M; Mayo, M J; Mayo, G M

    1990-05-01

    The interaction between flax rust,Melampsora lini, and its host, flax,Linum usitatissimum, has been extensively studied, and certain genetic features make the system an appropriate choice to utilize in isolating genes conferring avirulence in rust. A mutant that was selected for virulence on Lx plants was isolated, after treatment with gamma rays, from a strain that is genotypicallyA-L5,A-L6,A-L7,A-Lx/A-L5,A-L6,a-L7,a-Lx. These four specificities are tightly linked. Breeding tests showed that this mutant was genotypicallyA-L5,A-L6,a-L7,a-Lx/a-L5,a-L6,a-L7,a-Lx and, when made homozygous for the mutant chromosome, was virulent onL5,L6,L7, andLx. This result excludes somatic recombination as a source of the mutation and indicates deletion as a likely cause. A 250 bp genomic sequence from a strain of rust homozygous for these four linked avirulence genes (A-L5,A-L6,A-L7,A-Lx) was isolated, using a method that allows the differential cloning of the specific DNA sequences located within a deletion in the mutant genome. This clone hybridized to two EcoRI bands in genomic DNA from the strain homozygous for the four linked avirulence genes and from the strain homozygousA-L5 andA-L6 and heterozygousA-L7 andA-Lx, but showed no homology to DNA from the strain carrying the putative chromosomal deletion. The correlation between the genetically characterized deletion mutation and the isolation of a sequence from within a region of chromosome missing from this strain of rust suggests that this 250 bp tract may be part of, or closely linked to, the defined set of avirulence genes. PMID:24226362

  5. Correlation between the Insertion/Deletion Mutations of Prion Protein Gene and BSE Susceptibility and Milk Performance in Dairy Cows

    Institute of Scientific and Technical Information of China (English)

    Shen-rong Hu; Yong-tao Huai; Chuan-ying Pan; Chu-zhao Lei; Hong Chen; Xian-yong Lan

    2013-01-01

    Objective To investigate the 23 bp and 12 bp insertion/deletion (indel) mutations within the bovine prion protein (PRNP) gene in Chinese dairy cows, and to detect the associations of two indel mutations with BSE susceptibility and milk performance. Methods Based on bovine PRNP gene sequence, two pairs of primers for testing the 23 bp and 12 bp indel mutations were designed. The PCR ampliifcation and agarose electrophoresis were carried out to distinguish the different genotypes within the mutations. Moreover, based on previous data from other cattle breeds and present genotypic and allelic frequencies of two indels mutations in this study, the corrections between the two indel mutations and BSE susceptibility were tested, as well as the relationships between the mutations and milk performance traits were analyzed in this study based on the statistical analyses. Results In the analyzed Chinese Holstein population, the frequencies of two“del”alleles in 23 bp and 12 bp indel muations were more frequent. The frequency of haplotype of 23del-12del was higher than those of 23del-12ins and 23ins-12del. From the estimated r2 and D’ values, two indel polymorphisms were linked strongly in the Holstein population (D’=57.5%, r2=0.257). Compared with the BSE-affected cattle populations from the reported data, the signiifcant differences of genotypic and allelic frequencies were found among present Holstein and some BSE-affected populations (P0.05). Conclusions These observations revealed that the inlfuence of two indel mutations within the bovine PRNP gene on BSE depended on the breed and they did not affect the milk production traits, which layed the foundation for future selection of resistant animals, and for improving health conditions for dairy breeding against BSE in China.

  6. Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication.

    Science.gov (United States)

    Jenkins, Julian; Chow, Vivian; Blaskey, Lisa; Kuschner, Emily; Qasmieh, Saba; Gaetz, Leah; Edgar, J Christopher; Mukherjee, Pratik; Buckner, Randall; Nagarajan, Srikantan S; Chung, Wendy K; Spiro, John E; Sherr, Elliott H; Berman, Jeffrey I; Roberts, Timothy P L

    2016-05-01

    Individuals with the 16p11.2 BP4-BP5 copy number variant (CNV) exhibit a range of behavioral phenotypes that may include mild impairment in cognition and clinical diagnoses of autism spectrum disorder (ASD). To better understand auditory processing impairments in populations with this chromosomal variation, auditory evoked responses were examined in children with the 16p11.2 deletion, 16p11.2 duplication, and age-matched controls. Stimuli consisted of sinusoidal binaural tones presented passively while children underwent recording with magnetoencephalography (MEG). The primary indicator of auditory processing impairment was the latency of the ∼100-ms "M100" auditory response detected by MEG, with the 16p11.2 deletion population exhibiting profoundly delayed M100 latencies relative to controls. This delay remained even after controlling for potential confounds such as age and cognitive ability. No significant difference in M100 latency was observed between 16p11.2 duplication carriers and controls. Additionally, children meeting diagnostic criteria for ASD (16p11.2 deletion carriers) exhibited nonsignificant latency delays when compared with the corresponding CNV carriers not meeting criteria for ASD. Present results indicate that 16p11.2 deletion is associated with auditory processing delays analogous to (but substantially more pronounced than) those previously reported in "idiopathic" ASD. PMID:25678630

  7. Evaluation of fungal- and photo-degradation as potential treatments for the removal of sunscreens BP3 and BP1

    Energy Technology Data Exchange (ETDEWEB)

    Gago-Ferrero, Pablo, E-mail: pablo.gago@idaea.csic.es [Departament de Quimica Ambiental, IDAEA-CSIC, C/ Jordi Girona 18-26, 08034 Barcelona (Spain); Badia-Fabregat, Marina, E-mail: marina.badia@uab.cat [Departament d' Enginyeria Quimica, Escola d' Enginyeria, Universitat Autonoma de Barcelona, 08193 Bellaterra, Barcelona (Spain); Olivares, Alba, E-mail: esalba.olivares@idaea.csic.es [Departament de Quimica Ambiental, IDAEA-CSIC, C/ Jordi Girona 18-26, 08034 Barcelona (Spain); Pina, Benjamin, E-mail: benjami.pina@idaea.csic.es [Departament de Quimica Ambiental, IDAEA-CSIC, C/ Jordi Girona 18-26, 08034 Barcelona (Spain); Blanquez, Paqui, E-mail: paqui.blanquez@uab.cat [Departament d' Enginyeria Quimica, Escola d' Enginyeria, Universitat Autonoma de Barcelona, 08193 Bellaterra, Barcelona (Spain); Vicent, Teresa, E-mail: teresa.vicent@uab.cat [Departament d' Enginyeria Quimica, Escola d' Enginyeria, Universitat Autonoma de Barcelona, 08193 Bellaterra, Barcelona (Spain); Caminal, Gloria, E-mail: gloria.caminal@uab.cat [Unitat de Biocatalisi Aplicada associada al IQAC (CSIC-UAB). Escola d' Enginyeria, Universitat Autonoma de Barcelona, 08193 Bellaterra, Barcelona (Spain); Diaz-Cruz, M. Silvia, E-mail: silvia.diaz@idaea.csic.es [Departament de Quimica Ambiental, IDAEA-CSIC, C/ Jordi Girona 18-26, 08034 Barcelona (Spain); and others

    2012-06-15

    Photodecomposition might be regarded as one of the most important abiotic factors affecting the fate of UV absorbing compounds in the environment and photocatalysis has been suggested as an effective method to degrade organic pollutants. However, UV filters transformation appears to be a complex process, barely addressed to date. The white rot fungus Trametes versicolor is considered as a promising alternative to conventional aerobic bacterial degradation, as it is able to metabolise a wide range of xenobiotics. This study focused on both degradation processes of two widely used UV filters, benzophenone-3 (BP3) and benzophenone-1 (BP1). Fungal treatment resulted in the degradation of more than 99% for both sunscreens in less than 24 h, whereas photodegradation was very inefficient, especially for BP3, which remained unaltered upon 24 h of simulated sunlight irradiation. Analysis of metabolic compounds generated showed BP1 as a minor by-product of BP3 degradation by T. versicolor while the main intermediate metabolites were glycoconjugate derivatives. BP1 and BP3 showed a weak, but significant estrogenic activity (EC50 values of 0.058 mg/L and 12.5 mg/L, respectively) when tested by recombinant yeast assay (RYA), being BP1 200-folds more estrogenic than BP3. Estrogenic activity was eliminated during T. versicolor degradation of both compounds, showing that none of the resulting metabolites possessed significant estrogenic activity at the concentrations produced. These results demonstrate the suitability of this method to degrade both sunscreen agents and to eliminate estrogenic activity. - Highlights: Black-Right-Pointing-Pointer Fungus T. versicolor is able to degrade totally BP3 and BP1 in few hours in a fluidised bed bioreactor. Black-Right-Pointing-Pointer BP3 is not degraded under simulated sunlight. Black-Right-Pointing-Pointer Glycoconjugates have been identified as the main intermediate metabolites. Black-Right-Pointing-Pointer Decrease in endocrine activity

  8. Propionate induces the bovine cytosolic phosphoenolpyruvate carboxykinase promoter activity.

    Science.gov (United States)

    Zhang, Qian; Koser, Stephanie L; Donkin, Shawn S

    2016-08-01

    Cytosolic phosphoenolpyruvate carboxykinase (PCK1) is a critical enzyme within the metabolic networks for gluconeogenesis, hepatic energy metabolism, and tricarboxylic acid cycle function, and is controlled by several transcription factors including hepatic nuclear factor 4α (HNF4α). The primary objective of the present study was to determine whether propionate regulates bovine PCK1 transcription. The second objective was to determine the action of cyclic AMP (cAMP), glucocorticoids, and insulin, hormonal cues known to modulate glucose metabolism, on bovine PCK1 transcriptional activity. The proximal promoter of the bovine PCK1 gene was ligated to a Firefly luciferase reporter and transfected into H4IIE hepatoma cells. Cells were exposed to treatments for 23 h and luciferase activity was determined in cell lysates. Activity of the PCK1 promoter was linearly induced by propionate, and maximally increased 7-fold with 2.5 mM propionate, which was not muted by 100 nM insulin. Activity of the PCK1 promoter was increased 1-fold by either 1.0 mM cAMP or 5.0µM dexamethasone, and 2.2-fold by their combination. Induction by cAMP and dexamethasone was repressed 50% by 100 nM insulin. Propionate, cAMP, and dexamethasone acted synergistically to induce the PCK1 promoter activity. Propionate-responsive regions, identified by 5' deletion analysis, were located between -1,238 and -409 bp and between -85 and +221 bp. Deletions of the core sequences of the 2 putative HNF4α sites decreased the responsiveness to propionate by approximately 40%. These data indicate that propionate regulates its own metabolism through transcriptional stimulation of the bovine PCK1 gene. This induction is mediated, in part, by the 2 putative HNF4α binding sites in the bovine PCK1 promoter. PMID:27289145

  9. 35 ka BP climate simulations in East Asia and probing the mechanisms of climate changes

    Institute of Scientific and Technical Information of China (English)

    YU Ge; ZHENG Yiqun; KE Xiankun

    2005-01-01

    Paleoclimate modeling has become an important tool to detect the future climate of the global warming that is difficult to be validated. The paleoclimate modeling has to be evaluated by regionally geological data in order to determine if it is able to reproduce a reality of climate states. Geological evidence shows that there was a warm-wet interstadial at 35000±3000 a BP in China, which provides an important climate period to be historical analogue for the future climate changes induced by greenhouse gas emissions. Integrated geological records of later phase of the MSI3 from China also provide basements for evaluation of 35 ka BP climate modeling. This paper reports the paleoclimate experiments applied by various forces, and validates the outputs by geological data, consequently improving the boundary conditions in the experiments and making the paleoclimates more approach the reality. The simulations show an increased temperature in the mid-low latitudes and an extended rain-belt northwards in East Asia, while a decreased temperature in high latitudes and a strong exchange of the N-S atmospheric circulation. As there is only ca. 10-15 ka from 35 ka BP to the LGM (21 ka BP) during which climate rapidly changed from a warm-wet interstadial to a typical ice age, this simulation provides scientific basis to recognize the criteria of global warming and trends of natural climate development.

  10. Localization of the equine IgG-binding domain in the fibrinogen-binding protein (FgBP) of Streptococcus equi subsp. equi.

    Science.gov (United States)

    Meehan, Mary; Lewis, Melanie J; Byrne, Caroline; O'Hare, David; Woof, Jenny M; Owen, Peter

    2009-08-01

    Fibrinogen-binding protein (FgBP, also termed SeM) is a cell-wall-associated anti-phagocytic M-like protein of the equine pathogen Streptococcus equi subsp. equi, and binds fibrinogen (Fg) and IgG. FgBP binds Fg avidly through residues located at the extreme N terminus of the molecule, whereas the IgG-binding site is more centrally located between the A and B repeats. FgBP binds equine IgG4 and IgG7 subclasses through interaction with the CH2-CH3 interdomain region of IgG-Fc, and possesses overlapping Fc-binding sites with protein A and protein G. In this study, FgBP truncates containing defined internal deletions were used to identify a stretch of 14 aa (residues 335-348) critical for IgG binding. Protein chimeras consisting of the non-IgG-binding alpha-helical coiled-coil M5 protein fused to FgBP sequences were used to identify a minimal equine IgG-binding domain consisting of residues 329-360. Competition ELISA tests suggested that IgG does not compromise Fg binding and vice versa. PMID:19423628

  11. EST Table: BP117714 [KAIKOcDNA[Archive

    Lifescience Database Archive (English)

    Full Text Available BP117714 ce--0824 11/12/09 n.h 10/09/28 58 %/195 aa ref|XP_001987762.1| GH22093 [Drosophila grim ... gi|91079384|ref|XP_971392.1| PREDICTED: similar to jitterbug ... CG30092-PD [Tribolium castaneum] BP117714 ce-- ...

  12. EST Table: BP116696 [KAIKOcDNA[Archive

    Lifescience Database Archive (English)

    Full Text Available f|XP_971592.1| PREDICTED: similar to pre-mRNA-splicing factor prp1 [Tribolium castaneum] BP116696 brS- ... ...BP116696 brS-0450 11/12/09 GO hit GO:0005622(intracellular)|GO:0006396(RNA processi

  13. EST Table: BP128000 [KAIKOcDNA[Archive

    Lifescience Database Archive (English)

    Full Text Available a gi|91085759|ref|XP_974103.1| PREDICTED: similar to smap1 [Tribolium castaneum] BP128000 tesV ... ...BP128000 tesV0058 11/12/09 GO hit GO:0008060(ARF GTPase activator activity)|GO:0008

  14. EST Table: BP124713 [KAIKOcDNA[Archive

    Lifescience Database Archive (English)

    Full Text Available mel|GB10445-PA 10/09/10 60 %/125 aa gi|91088399|ref|XP_972896.1| PREDICTED: similar to Rapgap1 CG34374-PF [Tribolium castaneum] BP124713 fbS2 ... ...BP124713 fbS20190 11/12/09 GO hit GO:0005096(GTPase activator activity)|GO:0005622(

  15. BP Cooperates with Chinese Partners for Clean Energy Research

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    @@ China's Academy of Sciences (CAS) and Tsinghua University held a seminar on clean energy at the Tsinghua-BP Clean Energy Research and Educational Center on November 12 to review the results achieved in the past year to implement the 10-year CAS-BP cooperative research project titled "Clean Energy for Future."

  16. BP Announces Withdrawal from West-to-East Gas Project

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    @@ On August 31, 2001, BP announced that BP would not participate in the bidding launched by PetroChina for the West-to-East gas transmission project,China's landmark project for West Development that is valued billions of US dollars.

  17. EST Table: BP120373 [KAIKOcDNA[Archive

    Lifescience Database Archive (English)

    Full Text Available BP120373 ceN-2172 10/09/28 76 %/104 aa ref|XP_972469.2| PREDICTED: similar to sticks.../09/10 low homology 10/09/10 76 %/104 aa gi|189235128|ref|XP_972469.2| PREDICTED: similar to sticks and stones CG33141-PA [Tribolium castaneum] BP122133 ceN- ...

  18. AcEST: BP914154 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000042_E08 499 Adiantum capillus-veneris mRNA. clone: YMU001_000042_E08. BP914154 CL3257C ... ession BP914154 Tissue type prothallium Developmental s tage - Contig ID CL3257Contig1 Sequence CTGAAAAGTC ... DCYLRLGAMARDKGNFYEASDWFKE 556 Query: 295 ALRLEENNVDALS FRGNVELKADDWLKAKETFKAV-QQLTDGKDAYSLLALGN 450 AL++ + ...

  19. AcEST: BP915162 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000067_C04 522 Adiantum capillus-veneris mRNA. clone: YMU001_000067_C04. BP915162 - Show ... ession BP915162 Tissue type prothallium Developmental s tage - Contig ID - Sequence CAGACCAAAACCAGACTGAGCT ... Methanococcus thermoli... 65 3e-10 sp|Q9HN70|THSA_HALS A Thermosome subunit alpha OS=Halobacterium s... 65 ...

  20. AcEST: BP914755 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000062_E07 515 Adiantum capillus-veneris mRNA. clone: YMU001_000062_E07. BP914755 CL3257C ... ession BP914755 Tissue type prothallium Developmental s tage - Contig ID CL3257Contig1 Sequence GCCGCATACA ... DCYLRLGAMARDKGNFYEASDWFKE 556 Query: 281 ALRLEENNVDALS FRGNVELKADDWLKAKETFKAV-QQLTDGKDAYSLLALGNWNYYAAG 105 ...

  1. AcEST: BP919234 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000122_G03 570 Adiantum capillus-veneris mRNA. clone: YMU001_000122_G03. BP919234 - Show ... ession BP919234 Tissue type prothallium Developmental s tage - Contig ID - Sequence GCCTTCCTAAACTATCGTGTTT ... Query: 515 PSYRSQNFCLLQTRYYSHKVGYDLLLIY*ISSRSPLYVSIALS WS 381 PSY+S NF LQ + HK YD + Y I + L ++ALS ... S Sbjct: ...

  2. AcEST: BP913901 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000037_F04 523 Adiantum capillus-veneris mRNA. clone: YMU001_000037_F04. BP913901 - Show ... ession BP913901 Tissue type prothallium Developmental s tage - Contig ID - Sequence TTTTTTTTTTTTTTTTTTTAAA ... DTFGAFRSSTKEKSSLSEGRLPG--RRP 438 Query: 313 TQNANPVALS HSMAFQESS 257 ANP ALS ... S F ESS Sbjct: 439 ELQANPAALS ...

  3. Accord Ignition Diagnosis Based on Improved GA-BP

    Directory of Open Access Journals (Sweden)

    Tie Wang

    2013-09-01

    Full Text Available BP neural network as a kind of intelligent method is widely used in fault diagnosis, due to the single BP neural network’s error is big, GA algorithm is often used in optimizing BP neural network, but the standard GA algorithm’s searching efficiency is low and it is easy to fall into local convergence. According to the characters of Accord car ignition diagnosis and BP neural network, this article puts forward an improved scheme of the standard GA algorithm optimizing BP net, calculate and analyze different simulation results gotten by MATLAB program. Through calculation: the single BP neural network’s convergence step number is 101, the final mean square error is 0.000997167; the convergence step number that standard GA algorithm optimizes the BP neural net is 83, the final mean square error is 0.000142126; the convergence step number that GA algorithm improved optimizes the BP neural net is 73, the final mean square error is 0.000137508. By the comparison, the improved GA algorithm has a better search efficiency and it’s computation can avoid falling into a local convergence.

  4. Delivering aminopyridine ligands into cancer cells through conjugation to the cell-penetrating peptide BP16

    OpenAIRE

    Soler Vives, Marta; González-Bártulos, Marta; Figueras, Eduard; Massaguer i Vall-llovera, Anna; Feliu Soley, Lídia; Planas i Grabuleda, Marta; Ribas Salamaña, Xavi; Costas Salgueiro, Miquel

    2016-01-01

    Peptide conjugates incorporating the red-ox active ligands Me2PyTACN or (S,S')-BPBP at the N- or the C-terminus of the cell-penetrating peptide BP16 were synthesized (PyTACN-BP16 (BP341), BP16-PyTACN (BP342), BPBP-BP16 (BP343), and BP16-BPBP (BP344)). Metal binding peptides bearing at the N-terminus the ligand, an additional Lys and a β-Ala were also prepared (PyTACN-βAK-BP16 (BP345) and BPBP-βAK-BP16 (BP346)). Moreover, taking into account the clathrin-dependent endocytic mechanism of BP16, ...

  5. AcEST: BP920162 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_G07 416 Adiantum capillus-veneris mRNA. clone: YMU001_000133_G07. BP92016...2 CL2758Contig1 Show BP920162 Clone id YMU001_000133_G07 Library YMU01 Length 416 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000133_G07. Accession BP920162 Tissue type prothallium Developmental stag...s Res. 25:3389-3402. Query= BP920162|Adiantum capillus-veneris mRNA, clone: YMU00... 25:3389-3402. Query= BP920162|Adiantum capillus-veneris mRNA, clone: YMU001_000133_G07. (416 letters) Datab

  6. AcEST: BP917720 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_F01 351 Adiantum capillus-veneris mRNA. clone: YMU001_000104_F01. BP9177...20 CL1160Contig1 Show BP917720 Clone id YMU001_000104_F01 Library YMU01 Length 351 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000104_F01. Accession BP917720 Tissue type prothallium Developmental stag...c Acids Res. 25:3389-3402. Query= BP917720|Adiantum capillus-veneris mRNA, clone: YMU001_000104_F01. (351 le...eic Acids Res. 25:3389-3402. Query= BP917720|Adiantum capillus-veneris mRNA, clone: YMU001_000104_F01. (351

  7. AcEST: BP918177 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000110_D10 560 Adiantum capillus-veneris mRNA. clone: YMU001_000110_D10. BP918177 - Show BP918177...is mRNA. clone: YMU001_000110_D10. Accession BP918177 Tissue type prothallium Developmental stage - Contig I...rograms, Nucleic Acids Res. 25:3389-3402. Query= BP918177|Adiantum capillus-veneris mRNA, clone: YMU001_0001...o sapiens GN=... 31 4.7 sp|P17765|POLG_BYMV Genome polyprotein OS=Bean yellow mosaic vir... 31 4.7 sp|Q06248...base search programs, Nucleic Acids Res. 25:3389-3402. Query= BP918177|Adiantum capillus-veneris mRNA, clone

  8. AcEST: BP911776 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000009_A10 541 Adiantum capillus-veneris mRNA. clone: YMU001_000009_A10. BP91177...6 CL3433Contig1 Show BP911776 Clone id YMU001_000009_A10 Library YMU01 Length 541 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000009_A10. Accession BP911776 Tissue type prothallium Developmental stag...se search programs, Nucleic Acids Res. 25:3389-3402. Query= BP911776|Adiantum capillus-veneris mRNA, clone: ...d PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91177

  9. AcEST: BP917724 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_F05 279 Adiantum capillus-veneris mRNA. clone: YMU001_000104_F05. BP9177...24 CL1287Contig1 Show BP917724 Clone id YMU001_000104_F05 Library YMU01 Length 279 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000104_F05. Accession BP917724 Tissue type prothallium Developmental stag...a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917724|Adian...7), Gapped BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177

  10. AcEST: BP917738 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_G10 219 Adiantum capillus-veneris mRNA. clone: YMU001_000104_G10. BP9177...38 CL2559Contig1 Show BP917738 Clone id YMU001_000104_G10 Library YMU01 Length 219 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000104_G10. Accession BP917738 Tissue type prothallium Developmental stag...s Res. 25:3389-3402. Query= BP917738|Adiantum capillus-veneris mRNA, clone: YMU001_000104_G10. (219 letters)... Res. 25:3389-3402. Query= BP917738|Adiantum capillus-veneris mRNA, clone: YMU001

  11. AcEST: BP917723 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_F04 557 Adiantum capillus-veneris mRNA. clone: YMU001_000104_F04. BP9177...23 CL1134Contig1 Show BP917723 Clone id YMU001_000104_F04 Library YMU01 Length 557 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000104_F04. Accession BP917723 Tissue type prothallium Developmental stag...ograms, Nucleic Acids Res. 25:3389-3402. Query= BP917723|Adiantum capillus-veneris mRNA, clone: YMU001_00010...s. 25:3389-3402. Query= BP917723|Adiantum capillus-veneris mRNA, clone: YMU001_000104_F04. (557 letters) Dat

  12. AcEST: BP917761 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_B04 422 Adiantum capillus-veneris mRNA. clone: YMU001_000105_B04. BP9177...61 CL1598Contig1 Show BP917761 Clone id YMU001_000105_B04 Library YMU01 Length 422 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000105_B04. Accession BP917761 Tissue type prothallium Developmental stag...d BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177...f protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917761|Adiantum capillus-vener

  13. AcEST: BP917772 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_C04 317 Adiantum capillus-veneris mRNA. clone: YMU001_000105_C04. BP9177...72 CL2826Contig1 Show BP917772 Clone id YMU001_000105_C04 Library YMU01 Length 317 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000105_C04. Accession BP917772 Tissue type prothallium Developmental stag... Acids Res. 25:3389-3402. Query= BP917772|Adiantum capillus-veneris mRNA, clone: YMU001_000105_C04. (317 let...I-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177

  14. AcEST: BP917731 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_G01 113 Adiantum capillus-veneris mRNA. clone: YMU001_000104_G01. BP9177...31 CL2673Contig1 Show BP917731 Clone id YMU001_000104_G01 Library YMU01 Length 113 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000104_G01. Accession BP917731 Tissue type prothallium Developmental stag...Gapped BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177...ration of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917731|Adiantum capill

  15. AcEST: BP917719 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_E12 452 Adiantum capillus-veneris mRNA. clone: YMU001_000104_E12. BP9177...19 CL1406Contig1 Show BP917719 Clone id YMU001_000104_E12 Library YMU01 Length 452 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000104_E12. Accession BP917719 Tissue type prothallium Developmental stag... Res. 25:3389-3402. Query= BP917719|Adiantum capillus-veneris mRNA, clone: YMU001...ids Res. 25:3389-3402. Query= BP917719|Adiantum capillus-veneris mRNA, clone: YMU001_000104_E12. (452 letter

  16. AcEST: BP917728 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000104_F10 247 Adiantum capillus-veneris mRNA. clone: YMU001_000104_F10. BP9177...28 CL1210Contig1 Show BP917728 Clone id YMU001_000104_F10 Library YMU01 Length 247 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000104_F10. Accession BP917728 Tissue type prothallium Developmental stag...rch programs, Nucleic Acids Res. 25:3389-3402. Query= BP917728|Adiantum capillus-veneris mRNA, clone: YMU001...abase search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917728|Adiantum capillus-veneris mRNA, clon

  17. AcEST: BP917776 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_C10 521 Adiantum capillus-veneris mRNA. clone: YMU001_000105_C10. BP9177...76 CL4063Contig1 Show BP917776 Clone id YMU001_000105_C10 Library YMU01 Length 521 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000105_C10. Accession BP917776 Tissue type prothallium Developmental stag... Acids Res. 25:3389-3402. Query= BP917776|Adiantum capillus-veneris mRNA, clone: YMU001_000105_C10. (521 let...BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP9177

  18. AcEST: BP921014 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000144_E08 348 Adiantum capillus-veneris mRNA. clone: YMU001_000144_E08. BP921014 - Show BP92101...is mRNA. clone: YMU001_000144_E08. Accession BP921014 Tissue type prothallium Developmental stage - Contig I... Acids Res. 25:3389-3402. Query= BP921014|Adiantum capillus-veneris mRNA, clone: YMU001_000144_E08. (348 let... and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP92101... polyspora (strain ATCC 22028 / DSM 70294) GN=Kpol_1019p24 PE=4 SV=1 Length = 228 Score = 33.9 bits (76), Ex

  19. AcEST: BP916101 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000083_B05 435 Adiantum capillus-veneris mRNA. clone: YMU001_000083_B05. BP916101 - Show BP916101 Clone id YMU001_000083_B05 Library YMU01 Length 435 Definition Adiantum capillus-veneris mRNA. clone: YMU001_000083_B05. Accession BP916101 ...ST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP916101...ed BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP916101...gment) OS=Physcomit... 99 6e-28 tr|A9U1X0|A9U1X0_PHYPA Predicted protein (Fragment) OS=Physcomit... 101 1e-2...LMKKHGTRIIIYNLW 355 Score = 52.0 bits (123), Expect(2) = 4e-30 Identities = 21/33 (63%), Positives = 30/33 (

  20. AcEST: BP921012 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000144_E06 231 Adiantum capillus-veneris mRNA. clone: YMU001_000144_E06. BP92101...2 CL3383Contig1 Show BP921012 Clone id YMU001_000144_E06 Library YMU01 Length 231 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000144_E06. Accession BP921012 Tissue type prothallium Developmental stag.... 25:3389-3402. Query= BP921012|Adiantum capillus-veneris mRNA, clone: YMU001_000144_E06. (231 letters) Data...ds Res. 25:3389-3402. Query= BP921012|Adiantum capillus-veneris mRNA, clone: YMU0

  1. AcEST: BP921018 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000144_E12 314 Adiantum capillus-veneris mRNA. clone: YMU001_000144_E12. BP92101...8 CL1324Contig1 Show BP921018 Clone id YMU001_000144_E12 Library YMU01 Length 314 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000144_E12. Accession BP921018 Tissue type prothallium Developmental stag...ST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP92101...d BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP92101

  2. AcEST: BP913399 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000029_G10 521 Adiantum capillus-veneris mRNA. clone: YMU001_000029_G10. BP913399... CL1902Contig1 Show BP913399 Clone id YMU001_000029_G10 Library YMU01 Length 521 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000029_G10. Accession BP913399 Tissue type prothallium Developmental stag... Acids Res. 25:3389-3402. Query= BP913399|Adiantum capillus-veneris mRNA, clone: YMU001_000029_G10. (521 let...abase search programs, Nucleic Acids Res. 25:3389-3402. Query= BP913399|Adiantum capillus-veneris mRNA, clon

  3. AcEST: BP919716 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000128_C12 533 Adiantum capillus-veneris mRNA. clone: YMU001_000128_C12. BP91971...6 CL2852Contig1 Show BP919716 Clone id YMU001_000128_C12 Library YMU01 Length 533 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000128_C12. Accession BP919716 Tissue type prothallium Developmental stag...eic Acids Res. 25:3389-3402. Query= BP919716|Adiantum capillus-veneris mRNA, clon...and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91971

  4. AcEST: BP919712 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000128_C08 508 Adiantum capillus-veneris mRNA. clone: YMU001_000128_C08. BP91971...2 CL3958Contig1 Show BP919712 Clone id YMU001_000128_C08 Library YMU01 Length 508 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000128_C08. Accession BP919712 Tissue type prothallium Developmental stag...ds Res. 25:3389-3402. Query= BP919712|Adiantum capillus-veneris mRNA, clone: YMU001_000128_C08. (508 letters... a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91971

  5. AcEST: BP919710 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000128_C06 540 Adiantum capillus-veneris mRNA. clone: YMU001_000128_C06. BP91971...0 CL1009Contig1 Show BP919710 Clone id YMU001_000128_C06 Library YMU01 Length 540 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000128_C06. Accession BP919710 Tissue type prothallium Developmental stag...ase search programs, Nucleic Acids Res. 25:3389-3402. Query= BP919710|Adiantum capillus-veneris mRNA, clone:...f protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP919710|Adiantum capillus-vener

  6. AcEST: BP919718 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000128_D02 319 Adiantum capillus-veneris mRNA. clone: YMU001_000128_D02. BP91971...8 CL199Contig1 Show BP919718 Clone id YMU001_000128_D02 Library YMU01 Length 319 Definition Adiantum cap...illus-veneris mRNA. clone: YMU001_000128_D02. Accession BP919718 Tissue type prothallium Developmental stage...Gapped BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91971...rograms, Nucleic Acids Res. 25:3389-3402. Query= BP919718|Adiantum capillus-veneris mRNA, clone: YMU001_0001

  7. AcEST: BP919714 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000128_C10 352 Adiantum capillus-veneris mRNA. clone: YMU001_000128_C10. BP91971...4 CL3562Contig1 Show BP919714 Clone id YMU001_000128_C10 Library YMU01 Length 352 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000128_C10. Accession BP919714 Tissue type prothallium Developmental stag...Acids Res. 25:3389-3402. Query= BP919714|Adiantum capillus-veneris mRNA, clone: YMU001_000128_C10. (352 lett...d BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91971

  8. AcEST: BP919719 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000128_D03 530 Adiantum capillus-veneris mRNA. clone: YMU001_000128_D03. BP91971...9 CL2560Contig1 Show BP919719 Clone id YMU001_000128_D03 Library YMU01 Length 530 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000128_D03. Accession BP919719 Tissue type prothallium Developmental stag... database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP919719|Adiantum capillus-veneris mRNA, ... Nucleic Acids Res. 25:3389-3402. Query= BP919719|Adiantum capillus-veneris mRNA, clone: YMU001_000128_D03.

  9. Black Phosphorus (BP) Nanodots for Potential Biomedical Applications.

    Science.gov (United States)

    Lee, Hyun Uk; Park, So Young; Lee, Soon Chang; Choi, Saehae; Seo, Soonjoo; Kim, Hyeran; Won, Jonghan; Choi, Kyuseok; Kang, Kyoung Suk; Park, Hyun Gyu; Kim, Hee-Sik; An, Ha Rim; Jeong, Kwang-Hun; Lee, Young-Chul; Lee, Jouhahn

    2016-01-13

    Recently, the appeal of 2D black phosphorus (BP) has been rising due to its unique optical and electronic properties with a tunable band gap (≈0.3-1.5 eV). While numerous research efforts have recently been devoted to nano- and optoelectronic applications of BP, no attention has been paid to promising medical applications. In this article, the preparation of BP-nanodots of a few nm to water or air is observed. As for the BP-nanodot crystals' stability (ionization and persistence of fluorescent intensity) in aqueous solution, after 10 d, ≈80% at 1.5 mg mL(-1) are degraded (i.e., ionized) in phosphate buffered saline. They showed no or little cytotoxic cell-viability effects in vitro involving blue- and green-fluorescence cell imaging. Thus, BP-nanodots can be considered a promising agent for drug delivery or cellular tracking systems. PMID:26584654

  10. AcEST: BP917757 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_A10 478 Adiantum capillus-veneris mRNA. clone: YMU001_000105_A10. BP91775...7 CL588Contig1 Show BP917757 Clone id YMU001_000105_A10 Library YMU01 Length 478 Definition Adiantum cap...illus-veneris mRNA. clone: YMU001_000105_A10. Accession BP917757 Tissue type prothallium Developmental stage...c Acids Res. 25:3389-3402. Query= BP917757|Adiantum capillus-veneris mRNA, clone:...ograms, Nucleic Acids Res. 25:3389-3402. Query= BP917757|Adiantum capillus-veneris mRNA, clone: YMU001_00010

  11. AcEST: BP921775 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000154_A06 512 Adiantum capillus-veneris mRNA. clone: YMU001_000154_A06. BP921775... CL4074Contig1 Show BP921775 Clone id YMU001_000154_A06 Library YMU01 Length 512 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000154_A06. Accession BP921775 Tissue type prothallium Developmental stag.... 25:3389-3402. Query= BP921775|Adiantum capillus-veneris mRNA, clone: YMU001_000154_A06. (512 letters) Data...ms, Nucleic Acids Res. 25:3389-3402. Query= BP921775|Adiantum capillus-veneris mRNA, clone: YMU001_000154_A0

  12. AcEST: BP917759 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000105_B01 501 Adiantum capillus-veneris mRNA. clone: YMU001_000105_B01. BP91775...9 CL1351Contig1 Show BP917759 Clone id YMU001_000105_B01 Library YMU01 Length 501 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000105_B01. Accession BP917759 Tissue type prothallium Developmental stag...ST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91775...a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP917759|Adian

  13. AcEST: BP918775 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000117_D01 560 Adiantum capillus-veneris mRNA. clone: YMU001_000117_D01. BP918775... CL2449Contig1 Show BP918775 Clone id YMU001_000117_D01 Library YMU01 Length 560 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000117_D01. Accession BP918775 Tissue type prothallium Developmental stag...atabase search programs, Nucleic Acids Res. 25:3389-3402. Query= BP918775|Adiantum capillus-veneris mRNA, cl...Gapped BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP918775

  14. AcEST: BP921367 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000149_A05 567 Adiantum capillus-veneris mRNA. clone: YMU001_000149_A05. BP921367... CL2099Contig1 Show BP921367 Clone id YMU001_000149_A05 Library YMU01 Length 567 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000149_A05. Accession BP921367 Tissue type prothallium Developmental stag...e search programs, Nucleic Acids Res. 25:3389-3402. Query= BP921367|Adiantum capillus-veneris mRNA, clone: Y...ch programs, Nucleic Acids Res. 25:3389-3402. Query= BP921367|Adiantum capillus-veneris mRNA, clone: YMU001_

  15. AcEST: BP912367 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000018_C06 544 Adiantum capillus-veneris mRNA. clone: YMU001_000018_C06. BP912367 - Show BP912367...is mRNA. clone: YMU001_000018_C06. Accession BP912367 Tissue type prothallium Developmental stage - Contig I... Nucleic Acids Res. 25:3389-3402. Query= BP912367|Adiantum capillus-veneris mRNA, clone: YMU001_000018_C06. ... LQSLQQQVPLCEKLPRKHSAHPAKP*CSHMAPAAES 263 ++SL Q PL LP +H HP+ P HM P E+ Sbjct: 332 IRSLFQPQPLQPLLPVQHPHHPSPPQGMHMPPQLET 367...s. 25:3389-3402. Query= BP912367|Adiantum capillus-veneris mRNA, clone: YMU001_000018_C06. (531 letters) Dat

  16. AcEST: BP915367 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000070_F10 478 Adiantum capillus-veneris mRNA. clone: YMU001_000070_F10. BP915367... CL2241Contig1 Show BP915367 Clone id YMU001_000070_F10 Library YMU01 Length 478 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000070_F10. Accession BP915367 Tissue type prothallium Developmental stag...ucleic Acids Res. 25:3389-3402. Query= BP915367|Adiantum capillus-veneris mRNA, clone: YMU001_000070_F10. (4...apped BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP915367

  17. AcEST: BP912347 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000018_A09 547 Adiantum capillus-veneris mRNA. clone: YMU001_000018_A09. BP91234...7 CL3073Contig1 Show BP912347 Clone id YMU001_000018_A09 Library YMU01 Length 547 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000018_A09. Accession BP912347 Tissue type prothallium Developmental stag... of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP912347|Adiantum capillus-ven...apped BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91234

  18. AcEST: BP912341 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000018_A03 404 Adiantum capillus-veneris mRNA. clone: YMU001_000018_A03. BP91234...1 CL1767Contig1 Show BP912341 Clone id YMU001_000018_A03 Library YMU01 Length 404 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000018_A03. Accession BP912341 Tissue type prothallium Developmental stag...7), Gapped BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP91234...c Acids Res. 25:3389-3402. Query= BP912341|Adiantum capillus-veneris mRNA, clone: YMU001_000018_A03. (404 le

  19. AcEST: BP912348 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000018_A10 600 Adiantum capillus-veneris mRNA. clone: YMU001_000018_A10. BP91234...8 CL2991Contig1 Show BP912348 Clone id YMU001_000018_A10 Library YMU01 Length 600 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000018_A10. Accession BP912348 Tissue type prothallium Developmental stag...s Res. 25:3389-3402. Query= BP912348|Adiantum capillus-veneris mRNA, clone: YMU001_000018_A10. (600 letters)...ein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP912348|Adiantum capillus-veneris mRN

  20. AcEST: BP920128 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_D03 530 Adiantum capillus-veneris mRNA. clone: YMU001_000133_D03. BP92012...8 CL890Contig1 Show BP920128 Clone id YMU001_000133_D03 Library YMU01 Length 530 Definition Adiantum cap...illus-veneris mRNA. clone: YMU001_000133_D03. Accession BP920128 Tissue type prothallium Developmental stage...ds Res. 25:3389-3402. Query= BP920128|Adiantum capillus-veneris mRNA, clone: YMU001_000133_D03. (530 letters... search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920128|Adiantum capillus-veneris mRNA, clone: YM

  1. AcEST: BP920126 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_D01 482 Adiantum capillus-veneris mRNA. clone: YMU001_000133_D01. BP92012...6 CL113Contig1 Show BP920126 Clone id YMU001_000133_D01 Library YMU01 Length 482 Definition Adiantum cap...illus-veneris mRNA. clone: YMU001_000133_D01. Accession BP920126 Tissue type prothallium Developmental stage...neration of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP92012...ms, Nucleic Acids Res. 25:3389-3402. Query= BP920126|Adiantum capillus-veneris mRNA, clone: YMU001_000133_D0

  2. AcEST: BP920122 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000133_C07 537 Adiantum capillus-veneris mRNA. clone: YMU001_000133_C07. BP92012...2 CL2470Contig1 Show BP920122 Clone id YMU001_000133_C07 Library YMU01 Length 537 Definition Adiantum ca...pillus-veneris mRNA. clone: YMU001_000133_C07. Accession BP920122 Tissue type prothallium Developmental stag...programs, Nucleic Acids Res. 25:3389-3402. Query= BP920122|Adiantum capillus-veneris mRNA, clone: YMU001_000...grams, Nucleic Acids Res. 25:3389-3402. Query= BP920122|Adiantum capillus-veneris mRNA, clone: YMU001_000133

  3. Obtaining a Planar Graph by Vertex Deletion

    OpenAIRE

    Marx, Dániel; Schlotter, Ildikó

    2008-01-01

    In the k-Apex problem the task is to find at most k vertices whose deletion makes the given graph planar. The graphs for which there exists a solution form a minor closed class of graphs, hence by the deep results of Robertson and Seymour, there is an O(n^3) time algorithm for every fixed value of k. However, the proof is extremely complicated and the constants hidden by the big-O notation are huge. Here we give a much simpler algorithm for this problem with quadratic running time, by iterati...

  4. Mitochondrial common deletion, a potential biomarker for cancer occurrence, is selected against in cancer background: a meta-analysis of 38 studies.

    Directory of Open Access Journals (Sweden)

    Hezhongrong Nie

    Full Text Available Mitochondrial dysfunction has been long proposed to play a major role in tumorigenesis. Mitochondrial DNA (mtDNA mutations, especially the mtDNA 4,977 bp deletion has been found in patients of various types of cancer. In order to comprehend the mtDNA 4,977 bp deletion status in various cancer types, we performed a meta-analysis composed of 33 publications, in which a total of 1613 cancer cases, 1516 adjacent normals and 638 healthy controls were included. When all studies were pooled, we found that cancerous tissue carried a lower mtDNA 4,977 bp deletion frequency than adjacent non-cancerous tissue (OR = 0.43, 95% CI = 0.20-0.92, P = 0.03 for heterogeneity test, I(2 = 91.5% among various types of cancer. In the stratified analysis by cancer type the deletion frequency was even lower in tumor tissue than in adjacent normal tissue of breast cancer (OR = 0.19, 95% CI = 0.06-0.61, P = 0.005 for heterogeneity test, I(2= 82.7%. Interestingly, this observation became more significant in the stratified studies with larger sample sizes (OR = 0.70, 95% CI = 0.58-0.86, P = 0.0005 for heterogeneity test, I(2 = 95.1%. Furthermore, when compared with the normal tissue from the matched healthy controls, increased deletion frequencies were observed in both adjacent non-cancerous tissue (OR = 3.02, 95% CI = 2.13-4.28, P<0.00001 for heterogeneity test, I(2= 53.7%, and cancerous tissue (OR = 1.36, 95% CI = 1.04-1.77, P = 0.02 for heterogeneity test, I(2= 83.5%. This meta-analysis suggests that the mtDNA 4,977 bp deletion is often found in cancerous tissue and thus has the potential to be a biomarker for cancer occurrence in the tissue, but at the same time being selected against in various types of carcinoma tissues. Larger and better-designed studies are still warranted to confirm these findings.

  5. Secure Deletion on Log-structured File Systems

    CERN Document Server

    Reardon, Joel; Capkun, Srdjan; Basin, David

    2011-01-01

    We address the problem of secure data deletion on log-structured file systems. We focus on the YAFFS file system, widely used on Android smartphones. We show that these systems provide no temporal guarantees on data deletion and that deleted data still persists for nearly 44 hours with average phone use and indefinitely if the phone is not used after the deletion. Furthermore, we show that file overwriting and encryption, methods commonly used for secure deletion on block-structured file systems, do not ensure data deletion in log-structured file systems. We propose three mechanisms for secure deletion on log-structured file systems. Purging is a user-level mechanism that guarantees secure deletion at the cost of negligible device wear. Ballooning is a user-level mechanism that runs continuously and gives probabilistic improvements to secure deletion. Zero overwriting is a kernel-level mechanism that guarantees immediate secure deletion without device wear. We implement these mechanisms on Nexus One smartphon...

  6. Bcl3-dependent stabilization of CtBP1 is crucial for the inhibition of apoptosis and tumor progression in breast cancer

    International Nuclear Information System (INIS)

    Research highlights: → CtBP1 as a new binding partner of Bcl3. → Bcl3 stabilizes CtBP1 by inhibiting ubiquitination of CtBP1. → Bcl3 antagonizes CtBP1-mediated apoptotic responses. → Positive correlation between increased Bcl3 and CtBP1 protein levels in breast cancer tissues. -- Abstract: B-cell lymphoma 3 (Bcl3) is a proto-oncogene upregulated in a wide range of cancers, including breast cancer. Although Bcl3 is known to promote cell proliferation and inhibit apoptosis, the molecular mechanisms underlying the proto-oncogenic function of Bcl3 have not been completely elucidated. To gain insight into the oncogenic role of Bcl3, we applied a proteomic approach, which led to the identification of C-terminal binding protein 1 (CtBP1) as a binding partner of Bcl3. A PXDLS/R motif embedded in Bcl3 was found to mediate the interaction between Bcl3 and CtBP1, which caused the stabilization of CtBP1 by blocking proteasome-dependent degradation. Apoptotic stimuli-induced degradation of CtBP1 was significantly abolished by the upregulation of Bcl3, leading to the sustained repression of pro-apoptotic gene expression and subsequent inhibition of apoptosis. Intriguingly, a strong positive correlation between the protein levels of Bcl3 and CtBP1 was detected in breast cancer patient samples. Our study reveals a novel combinatorial role for Bcl3 and CtBP1, providing an explanation for the acquisition of resistance to apoptosis in cancer cells, which is a major requirement for cancer development.

  7. The value of a BP determination method using a novel non-invasive BP device against the invasive catheter measurement.

    Directory of Open Access Journals (Sweden)

    Jinsong Xu

    Full Text Available OBJECTIVE: The aim of this study was to evaluate the accuracy of a new blood pressure (BP measurement method (Pulse method. METHODS: This study enrolled 45 patients for selective percutaneous coronary intervention (PCI via right radial artery. A BP device using either oscillometric (Microlife 3AC1-1 or Pulse method(RG-BP11was used. At the beginning of each PCI, intra-radial BP was measured before Microlife BP or Pulse BP measurement as its own reference, respectively. At the end of PCI, BP was measured again with the measurement order of Microlife BP and Pulse BP reversed. The differences between intra-radial and Microlife (BPi-M or Pulse BP (BPi-P on SBP, DBP and mean artery pressure (MAP were calculated. Meanwhile, in 48 patients the intra-brachial BP and intra-radial artery BP were measured to calculate the brachial -radial BP difference (BPr-b. RESULTS: The intra-radial SBP references used prior to both the Microlife and Pulse SBP that were similar (145.1±27.7 vs 145.8±24.2 mmHg, but the Microlife SBP was significantly lower than the Pulse SBP (127.7±20.5 vs 130.3±22.7 mmHg, P<0.05, thus the SBPi-M was higher than SBPi-P (18.1±11.8 vs 14.8±12.8 mmHg, P<0.05. As the mean SBPr-b was 12.4 mmHg, the Pulse SBP was closer to expected intra-brachial SBP by about 3.3 mmHg than was Microlife SBP to expected intra-brachial SBP. Meanwhile, Bland-Altman plots showed that the 95% limits of agreement for intra-radial SBP by Pulse SBP were narrower than those by Microlife SBP (12.0∼17.5 vs 15.5∼20.6 mmHg. However, the 95% limits of agreement for Pulse DBP and MAP were similar to those for Microlife DBP and MAP. CONCLUSION: Against the invasive BP measurement, the pulse method may provide more accurate SBP and comparable DBP and MAP as compared with the oscillometric method.

  8. Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

    DEFF Research Database (Denmark)

    Bisgaard, A-M; Kirchhoff, M; Nielsen, J E; Kibaek, M; Lund, A; Schwartz, M; Christensen, E

    2008-01-01

    A deletion on one chromosome and a mutant allele on the other may cause an autosomal recessive disease. We report on two patients with mental retardation, dysmorphic features and low catalytic activity of arylsulfatase A. One patient had a pathogenic mutation in the arylsulfatase A gene (ARSA) and...

  9. Deletion of ultraconserved elements yields viable mice

    Energy Technology Data Exchange (ETDEWEB)

    Ahituv, Nadav; Zhu, Yiwen; Visel, Axel; Holt, Amy; Afzal, Veena; Pennacchio, Len A.; Rubin, Edward M.

    2007-07-15

    Ultraconserved elements have been suggested to retainextended perfect sequence identity between the human, mouse, and ratgenomes due to essential functional properties. To investigate thenecessities of these elements in vivo, we removed four non-codingultraconserved elements (ranging in length from 222 to 731 base pairs)from the mouse genome. To maximize the likelihood of observing aphenotype, we chose to delete elements that function as enhancers in amouse transgenic assay and that are near genes that exhibit markedphenotypes both when completely inactivated in the mouse as well as whentheir expression is altered due to other genomic modifications.Remarkably, all four resulting lines of mice lacking these ultraconservedelements were viable and fertile, and failed to reveal any criticalabnormalities when assayed for a variety of phenotypes including growth,longevity, pathology and metabolism. In addition more targeted screens,informed by the abnormalities observed in mice where genes in proximityto the investigated elements had been altered, also failed to revealnotable abnormalities. These results, while not inclusive of all thepossible phenotypic impact of the deleted sequences, indicate thatextreme sequence constraint does not necessarily reflect crucialfunctions required for viability.

  10. Rare human diseases: 9p deletion syndrome

    Directory of Open Access Journals (Sweden)

    Galagan V.O.

    2014-09-01

    Full Text Available Objective of the study was to review the anamnesis, pheno - and genotype in patients with rare chromosome disorders such as 9p deletion syndrome. Genetic methods of investigation (clinical and genealogical, cytogenetic, FISH- method, paraclinical and instrumental methods of examination were used. Karyotyping was performed by the G-method of differential staining of chromosomes. Only three cases of pathology were diagnosed in the Medical Genetics Center over the last 10 years. By anamnesis data nobody in the probands’ families had bad habits, was exposed to occupational hazards, took part in the elimination of the Chernobyl accident or lived in contaminated areas. Clinical signs of diseases have not been identified in probands’ parents. All probands had trigonocephaly, bilateral epicanthal folds, ocular hypertelorism, downslanting palpebral fissures, long philtrum, flat face and nasal bridge, low set ears with malformed auricles. Two patients of three ones had exophthalmos, contracture of the second and third fingers, abnormal external genitalia. In all three cases there was monosomy of chromosome 9 of critical segment p 24. Normal karyotypes were seen in all parents, so there were three cases of new mutations of 9p deletion syndrome. Retardation of physical, psycho-spech, mental development in proband with or without congenital anomalies requires medical genetic counseling in a specialized institution. Cases of reproductive loss in anamnesis require cytogenetic investigation of fetal membranes and amniotic fluid.

  11. Leptin Induces Hypertension and Endothelial Dysfunction via Aldosterone-Dependent Mechanisms in Obese Female Mice.

    Science.gov (United States)

    Huby, Anne-Cécile; Otvos, Laszlo; Belin de Chantemèle, Eric J

    2016-05-01

    Obesity is a major risk factor for cardiovascular disease in males and females. Whether obesity triggers cardiovascular disease via similar mechanisms in both the sexes is, however, unknown. In males, the adipokine leptin highly contributes to obesity-related cardiovascular disease by increasing sympathetic activity. Females secrete 3× to 4× more leptin than males, but do not exhibit high sympathetic tone with obesity. Nevertheless, females show inappropriately high aldosterone levels that positively correlate with adiposity and blood pressure (BP). We hypothesized that leptin induces hypertension and endothelial dysfunction via aldosterone-dependent mechanisms in females. Leptin control of the cardiovascular function was analyzed in female mice sensitized to leptin via the deletion of protein tyrosine phosphatase 1b (knockout) and in agouti yellow obese hyperleptinemic mice (Ay). Hypersensitivity to leptin (wild-type, 115±2; protein tyrosine phosphatase 1b knockout, 124±2 mm Hg;Pantagonism restored BP and endothelial function in protein tyrosine phosphatase 1b knockout and Ay mice. Hypersensitivity to leptin and obesity reduced BP response to ganglionic blockade in both strains and plasma catecholamine levels in protein tyrosine phosphatase 1b knockout mice. Hypersensitivity to leptin and obesity significantly increased plasma aldosterone levels and adrenal CYP11B2 expression. Chronic leptin receptor antagonism reduced aldosterone levels. Furthermore, chronic leptin and mineralocorticoid receptor blockade reduced BP and improved endothelial function in both leptin-sensitized and obese hyperleptinemic female mice. Together, these data demonstrate that leptin induces hypertension and endothelial dysfunction via aldosterone-dependent mechanisms in female mice and suggest that obesity leads to cardiovascular disease via sex-specific mechanisms. PMID:26953321

  12. Mitotic protein kinase CDK1 phosphorylation of mRNA translation regulator 4E-BP1 Ser83 may contribute to cell transformation

    Energy Technology Data Exchange (ETDEWEB)

    Velasquez, Celestino; Cheng, Erdong; Shuda, Masahiro; Lee-Oesterreich, Paula J.; Pogge von Strandmann, Lisa; Gritsenko, Marina A.; Jacobs, Jon M.; Moore, Patrick S.; Chang, Yuan

    2016-07-26

    mTOR-directed 4E-BP1 phosphorylation promotes cap-dependent translation and tumorigen-esis. During mitosis, CDK1 substitutes for mTOR and fully phosphorylates 4E-BP1 at canoni-cal as well a non-canonical S83 site resulting in a mitosis-specific hyperphosphorylated δ isoform. Colocalization studies with a phospho-S83 specific antibody indicate that 4E-BP1 S83 phosphorylation accumulates at centrosomes during prophase, peaks at metaphase, and decreases through telophase. While S83 phosphorylation of 4E-BP1 does not affect in vitro cap-dependent translation, nor eIF4G/4E-BP1 cap-binding, expression of an alanine substitution mutant 4E-BP1.S83A partially reverses rodent cell transformation induced by Merkel cell polyomavirus (MCV) small T (sT) antigen viral oncoprotein. In contrast to inhibitory mTOR 4E-BP1 phosphorylation, these findings suggest that mitotic CDK1-directed phosphorylation of δ-4E-BP1 may yield a gain-of-function, distinct from translation regulation, that may be important in tumorigenesis and mitotic centrosome function.

  13. The risk evaluation of mine coal-dust explosion based on BP neural network

    Institute of Scientific and Technical Information of China (English)

    CHEN Lian-jun; CHENG Wei-min

    2007-01-01

    Introduced the theory of three types of hazardous sources, and it recognized and analysed such three types of hazardous sources as the factor of inherent hazardous source, factor of inducing hazardous source and factor of men, which affect the safety and reliability of coal-dust explosion risk system and then builds up the risk factor indices of coal-dust explosion according to analysis of conditions inducing the coal-dust explosion. It fixes the risk degree of coal-dust explosion risk system by analyzing loss probability and loss scope of risk system and by means of the probabilistic hazard evaluation method and risk matrix method, etc.. According to the feature of strong capability of nonlinear approximation of BP neural network, the paper designed the structure of BP neural network for the risk evaluation of the mine coal-dust explosion with BP neural network. And the weight of the network was finally determined by training the given samples so that the risk degree of samples to be measured could be exactly evaluated and the risk of mine coal-dust explosion could be alarmed in good time.

  14. Deletion of the App-Runx1 region in mice models human partial monosomy 21

    Directory of Open Access Journals (Sweden)

    Thomas Arbogast

    2015-06-01

    Full Text Available Partial monosomy 21 (PM21 is a rare chromosomal abnormality that is characterized by the loss of a variable segment along human chromosome 21 (Hsa21. The clinical phenotypes of this loss are heterogeneous and range from mild alterations to lethal consequences, depending on the affected region of Hsa21. The most common features include intellectual disabilities, craniofacial dysmorphology, short stature, and muscular and cardiac defects. As a complement to human genetic approaches, our team has developed new monosomic mouse models that carry deletions on Hsa21 syntenic regions in order to identify the dosage-sensitive genes that are responsible for the symptoms. We focus here on the Ms5Yah mouse model, in which a 7.7-Mb region has been deleted from the App to Runx1 genes. Ms5Yah mice display high postnatal lethality, with a few surviving individuals showing growth retardation, motor coordination deficits, and spatial learning and memory impairments. Further studies confirmed a gene dosage effect in the Ms5Yah hippocampus, and pinpointed disruptions of pathways related to cell adhesion (involving App, Cntnap5b, Lgals3bp, Mag, Mcam, Npnt, Pcdhb2, Pcdhb3, Pcdhb4, Pcdhb6, Pcdhb7, Pcdhb8, Pcdhb16 and Vwf. Our PM21 mouse model is the first to display morphological abnormalities and behavioural phenotypes similar to those found in affected humans, and it therefore demonstrates the major contribution that the App-Runx1 region has in the pathophysiology of PM21.

  15. Quantitative detection of common deletion of mitochondrial DNA in hepatocellular carcinoma and hepatocellular nodular hyperplasia

    Institute of Scientific and Technical Information of China (English)

    Jian-Yong Shao; Hong-Yi Gao; Yu-Hong Li; Yu Zhang; You-Yong Lu; Yi-Xin Zeng

    2004-01-01

    AIM: To study the deletion of mitochondiral DNA in hepatocellular carcinoma and hepatocellular nodular hyperplasia and its significance in the development of cancer.METHODS: Deleted mtDNA (CD-mtDNA) and wild type mtDNA (WT-mtDNA) were quantitatively analyzed by using real-time PCR in 27 hepatocellular carcinomas (HCC)and corresponding noncancerous liver tissues and 27hepatocellular nodular hyperplasiae (HNH).RESULTS: A novel CD (4 981 bp) was detected in 85%(23/27) and 83%(22/27) of HCC and HNH tumor tissues,respectively, which were significantly higher than that in paired noncancerous liver tissues (57%, 15/27) (P<0.05).The CD/WT-mtDNA ratio in HCC tumors was 0.00092(median, interquartile range, 0.0001202-0.00105), which was significantly higher than that in paired noncancerous liver tissues (median, 0.000, quartile range, 0-0) (P=0.002,Mann-Whitney Test), and was 25 of times of that in HNH tissues (median, 0.0000374, quartile range, 0-0.0004225)(P=0.002, Mann-Whitney test).CONCLUSION: CD-mtDNA mutation plays an important role in the development and progression of HCC.

  16. Type 1 hyperlipoproteinemia in a child with large homozygous deletion encompassing GPIHBP1.

    Science.gov (United States)

    Patni, Nivedita; Brothers, Julie; Xing, Chao; Garg, Abhimanyu

    2016-01-01

    Type I hyperlipoproteinemia (T1HLP) usually presents with extreme hypertriglyceridemia, recurrent episodes of acute pancreatitis, lipemia retinalis, and cutaneous eruptive xanthomas. We report a unique 10-year-old male of Indian origin who presented in neonatal period with transient obstructive jaundice and xanthomas in the pancreas and kidneys. Serum triglycerides stabilized with extremely low-fat diet although he subsequently developed pancreatic atrophy. Extreme hypertriglyceridemia failed to respond to treatment with fenofibrate, fish oil, and orlistat. Whole-exome sequencing of the parents and patient was performed. Copy number variation analysis revealed a large deletion in chromosome 8 containing the entire GPIHBP1, which was confirmed by Sanger sequencing to be 54,623 bp deletion. Review of the literature revealed a slightly higher maximum triglyceride levels in those with homozygous null vs missense mutations suggesting severe disease in those with nonfunctional vs dysfunctional GPIHBP1 protein. Visceral xanthomas and pancreatic atrophy can be part of the spectrum of clinical features in patients with T1HLP. We highlight the need to perform copy number variations analysis of whole-exome sequencing data for finding disease-causing variants. There is also an urgent need to develop novel targeted therapies for patients with T1HLP. PMID:27578137

  17. Mapping of the spontaneous deletion in the Ap3d1 gene of mocha mice: fast and reliable genotyping

    Directory of Open Access Journals (Sweden)

    Delenclos Marion

    2008-11-01

    Full Text Available Abstract Background The mocha mouse carries a spontaneous deletion in the Ap3d1 gene, encoding the delta 1 subunit of the adaptor related protein complex 3, (Ap3d1, and subsequently lack the expression of functional AP-3. This leads to a deficiency in vesicle transport and storage, which affects neurotransmitter vesicle turnover and release in the central nervous system. Since the genomic sequence of the Ap3d1 gene of mocha mouse is not known, precise mapping of the deletion as well as reliable genotyping protocols are lacking. Findings We sequenced the Ap3d1 gene (HGNC GeneID: 8943 around the deletion site in the mocha mouse and revealed a 10639 bp deletion covering exon 2 to 6. Subsequently, new PCR primers were designed yielding a reliable genotyping protocol of both newborn and adult tissue. To examine the genotypes further, hippocampal neurons were cultured from mocha and control mice. Patch-clamp recordings showed that mocha neurons had a higher input resistance, and that autaptic EPSC in mocha cultures depressed faster and stronger as compared with control cultures. Conclusion Our study reports the sequence of the deleted part of the Ap3d1 gene in mocha mice, as well as a reliable PCR-based genotyping protocol. We cultured hippocampal neurons from control and mocha mice, and found a difference in input resistance of the neurons, and in the synaptic short-term plasticity of glutamatergic autapses showing a larger synaptic depression than controls. The described procedures may be useful for the future utilization of the mocha mouse as a model of defective vesicle biogenesis. Importantly, as genotyping by eye color is complicated in newborn mice, the designed protocol is so fast and reliable that newborn mice could rapidly be genotyped and hippocampal neurons dissociated and cultured, which is normally best done at P0-P2.

  18. Possible enhancement of BP180 autoantibody production by herpes zoster.

    Science.gov (United States)

    Kamiya, Koji; Aoyama, Yumi; Suzuki, Takahiro; Niwa, Haruo; Horio, Ai; Nishio, Eiichi; Tokura, Yoshiki

    2016-02-01

    Bullous pemphigoid (BP) is an autoimmune blistering disease caused by autoantibodies against type XVII collagen/BP180 (BP180). Although the mechanisms of autoantibody production remain to be elucidated, herpes virus infections have been identified as a possible triggering factor for pemphigus. We report a case of herpes zoster (HZ) having anti-BP180 serum antibodies. The patient developed sudden-onset, tense blisters and edematous erythema on the right anterior chest, shoulder and upper back. Histopathology showed remarkable degeneration of keratinocytes, acantholysis and blister formation with ballooning cells, indicating herpes virus infection. A polymerase chain reaction analysis of varicella zoster virus (VZV) was positive in crusts and effusions from the skin lesions, confirming the definitive diagnosis of HZ. Notably, we found that the patient had anti-BP180 serum antibodies in association with the occurrence of HZ. After successful treatment with valacyclovir hydrochloride for 7 days, the serum levels of anti-BP180 antibodies decreased in accordance with the improvement of skin lesions. These findings suggest that the production of anti-BP180 antibodies could be triggered by the reactivation of VZV. PMID:26212492

  19. Protective effect of myostatin gene deletion on aging-related muscle metabolic decline

    OpenAIRE

    Chabi, Beatrice; Pauly, Marion; Carillon, Julie; Carnac, Gilles; Favier, François; Fouret, Gilles; Bonafos, Béatrice; Vanterpool, Frankie; Vernus, Barbara,; Coudray, Charles; Feillet Coudray, Christine; Bonnieu, Anne; Lacan, Dominique

    2016-01-01

    While myostatin gene deletion is a promising therapy to fight muscle loss during aging, this approach induces also skeletal muscle metabolic changes such as mitochondrial deficits, redox alteration and increased fatigability. In the present study, we evaluated the effects of aging on these features in aged wild-type (WT) and mstn knockout (KO) mice. Moreover, to determine whether an enriched-antioxidant diet may be useful to prevent agerelated disorders, we orally administered to the...

  20. Double deletion of melanocortin 4 receptors and SAPAP3 corrects compulsive behavior and obesity in mice

    OpenAIRE

    Xu, Pin; Grueter, Brad A.; Britt, Jeremiah K; McDaniel, Latisha; Huntington, Paula J.; Hodge, Rachel; Tran, Stephanie; Mason, Brittany L.; Lee, Charlotte; Vong, Linh; Lowell, Bradford B.; Malenka, Robert C.; Lutter, Michael; Pieper, Andrew A.

    2013-01-01

    Compulsive behavior is a debilitating clinical feature of many forms of neuropsychiatric disease, including Tourette syndrome, obsessive-compulsive spectrum disorders, eating disorders, and autism. Although several studies link striatal dysfunction to compulsivity, the pathophysiology remains poorly understood. Here, we show that both constitutive and induced genetic deletion of the gene encoding the melanocortin 4 receptor (MC4R), as well as pharmacologic inhibition of MC4R signaling, normal...

  1. Are there ethnic differences in deletions in the dystrophin gene?

    Energy Technology Data Exchange (ETDEWEB)

    Banerjee, M.; Verma, I.C. [All India Inst. of Medical Sciences, New Delhi (India)

    1997-01-20

    We studied 160 cases of Duchenne muscular dystrophy (DMD) drawn from all parts of India, using multiplex PCR of 27 exons. Of these, 103 (64.4%) showed intragenic deletions. Most (69.7%) of the deletions involved exons 45-51. The phenotype of cases with deletion of single exons did not differ significantly from those with deletion of multiple exons. The distribution of deletions in studies from different countries was variable, but this was accounted for either by the small number of cases studied, or by fewer exons analyzed. It is concluded that there is likely to be no ethnic difference with respect to deletions in the DMD gene. 38 refs., 2 figs., 3 tabs.

  2. Harpinxoo and Its Functional Domains Activate Pathogen-inducible Plant Promoters in Arabidopsis

    Institute of Scientific and Technical Information of China (English)

    PENGJian-Ling; BAOZhi-Long; LIPing; CHENGuang-Yong; WANGJin-Sheng; DONGHan-Song

    2004-01-01

    Harpins are bacterial proteins that can enhance plant growth and defense against pathogens and insects. To elaborate whether harpins perform the diverse functions in coordination with the activation of specific promoters that contain particular elements, we cloned pathogen-inducible plant promoters PPP1, PPP2, and PPP3 from tobacco and investigated their responses to harpinxoo or its truncated fragments DEG, DIR, and DPR (domains for enhancing plant growth, insect resistance and pathogen resistance). PPP1 contains an internal repeat composed of two tandem 111bp fragments; 111bp in the repeat was deleted in PPP2. PPP3 contains a bacteria-inducible element; PPP1 and PPP2 additionally contain TAC-1 and Eli boxes inducible correspondingly by salicylic acid (SA) and elicitors. Function of cloned PPPs was confirmed based on their activation in transgenic Arabidopsis plants by Ralstonia solanacearum (Ralston) or SA. Harpinxoo, DEG, DIR, or DPR activated PPP1 and PPP2 but not PPP3, consistent with the presence of Eli boxes in promoters. PPP1 was ca. 3-fold more active than PPP2, suggesting that the internal repeat affects levels of the promoter activation.

  3. A deletion map of the WAGR region on chromosome 11.

    OpenAIRE

    Gessler, M; Thomas, G H; Couillin, P; Junien, C; McGillivray, B C; Hayden, M; Jaschek, G.; Bruns, G. A.

    1989-01-01

    The WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) region has been assigned to chromosome 11p13 on the basis of overlapping constitutional deletions found in affected individuals. We have utilized 31 DNA probes which map to the WAGR deletion region, together with six reference loci and 13 WAGR-related deletions, to subdivide this area into 16 intervals. Specific intervals have been correlated with phenotypic features, leading to the identification of individual ...

  4. RNA-Editing with Combined Insertion and Deletion Preserves Regularity

    OpenAIRE

    Vink, E.P.; Zantema, H.; Bosnacki, D.

    2013-01-01

    We consider two elementary forms of string rewriting called guided insertion/deletion and guided rewriting. The original strings are modified depending on the match with a given set of auxiliary strings, called guides. Guided insertion/deletion considers matching of a string and a guide with respect to a specific correspondence of strings. Guided rewriting considers matching of a string and a guide with respect to an equivalence relation on the alphabet. Guided insertion/deletion is inspired ...

  5. Analysis of partial AZFc deletions in Malaysian infertile male subjects.

    Science.gov (United States)

    Almeamar, Hussein Ali; Ramachandran, Vasudevan; Ismail, Patimah; Nadkarni, Prashan; Fawzi, Nora

    2013-04-01

    Complete deletions in the AZF (a, b, and c) sub-regions of the Y-chromosome have been shown to contribute to unexplained male infertility. However, the role of partial AZFc deletions in male infertility remains to be verified. Three types of partial AZFc deletions have been identified. They are gr/gr, b1/b3, and b2/b3 deletions. A recent meta-analysis showed that ethnic and geographical factors might contribute to the association of partial AZFc deletions with male infertility. This study analyzed the association of partial AZFc deletions in Malaysian infertile males. Fifty two oligozoospermic infertile males and 63 fertile controls were recruited to this study. Screening for partial AZFc deletions was done using the two sequence-tagged sites approach (SY1291 and SY1191) which were analyzed using both the conventional PCR gel-electrophoresis and the high resolution melt, HRM method. Gr/gr deletions were found in 11.53% of the cases and 9.52% of the controls (p = 0.725). A B2/b3 deletion was found in one of the cases (p = 0.269). No B1/b3 deletions were identified in this study. The results of HRM analysis were consistent with those obtained using the conventional PCR gel-electrophoresis method. The HRM analysis was highly repeatable (95% limit of agreement was -0.0879 to 0.0871 for SY1191 melting temperature readings). In conclusion, our study showed that partial AZFc deletions were not associated with male infertility in Malaysian subjects. HRM analysis was a reliable, repeatable, fast, cost-effective, and semi-automated method which can be used for screening of partial AZFc deletions. PMID:23231020

  6. Deletions of the elastin gene in Williams Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Greenberg, F.; Nickerson, E.; McCaskill, C. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-09-01

    To investigate deletions in the elastin gene in patients with Williams Syndrome (WS), we screened 37 patients and their parents for deletions in the elastin gene by both fluorescence in situ hybridization (FISH) using cosmid cELN272 containing the 5{prime} end of the elastin gene and by polymerase chain reaction (PCR) using a primer pair which amplifies intron 17 in the elastin gene, producing a polymorphic amplification product. Thirty-two patients have been investigated by both the FISH and PCR techniques, one patient was studied only by PCR, and 4 patients were studied only by FISH. Overall, 34 of 37 patients (92%) were deleted for the elastin gene. Using the PCR marker, 14 patients were informative and 12 were shown to be deleted [maternal (n=5) and paternal (n=7)]. Using cosmid cELN272, 33 of 36 patients demonstrated a deletion of chromosome 7q11.23. In one family, both the mother and daughter were deleted due to an apparently de novo deletion arising in the mother. Three patients were not deleted using the elastin cosmid; 2 of these patients have classic WS. Another non-deleted patient has the typical facial features and hypercalcemia but normal intelligence. These three patients will be important in delineating the critical region(s) responsible for the facial features, hypercalcemia, mental retardation and supravalvular aortic stenosis (SVAS). There was not an absolute correlation between deletions in elastin and SVAS, although these individuals may be at risk for other cardiovascular complications such as hypertention. Since the majority of WS patients are deleted for a portion of the elastin gene, most likely this marker will be an important diagnostic tool, although more patients will need to be studied. Those patients who are not deleted but clinically have WS will be missed using only this one marker. Expansion of the critical region to other loci and identification of additional markers will be essential for identifying all patients with WS.

  7. The Functional Role of TopBP1 in DNA Maintenance at Mitosis

    DEFF Research Database (Denmark)

    Pedersen, Rune Troelsgaard

    When cells traverse mitosis, genome integrity of the emerging daughter cells is dependent on replication of the entire genome during the preceding S-phase and accurate chromosome segregation in mitosis. Replication stress may cause cells to enter mitosis with underreplicated loci, consisting of...... can lead to anaphase bridges that impair accurate chromosome segregation. The recent decade featured many advances in our understanding of how cells cope with underreplicated loci in mitosis. A major advance was the description of ultra-fine anaphase bridges (UFBs), a class of anaphase bridges that......-phase. We established Saccharomyces cerevisiae as a model organism to study anaphase bridges, and we identified Dpb11/TopBP1 as a novel UFB-associated protein in yeast and avian DT40 cells, respectively. TopBP1 localized to confined areas on replication-stress induced UFBs. Upon onset of mitosis we...

  8. AcEST: BP913614 [AcEST

    Lifescience Database Archive (English)

    Full Text Available YMU001_000032_C03 511 Adiantum capillus-veneris mRNA. clone: YMU001_000032_C03. BP9...13614 - Show BP913614 Clone id YMU001_000032_C03 Library YMU01 Length 511 Definition Adiantum capillus-vener... programs, Nucleic Acids Res. 25:3389-3402. Query= BP913614|Adiantum capillus-veneris mRNA, clone: YMU001_00.....................................................done Score E Sequences producing significant alignment...S=Moorella thermoa... 69 1e-11 sp|Q8TZ24|AROE_METKA Shikimate dehydrogenase OS=Methanopyrus kan... 67 3e-11

  9. AcEST: BP919878 [AcEST

    Lifescience Database Archive (English)

    Full Text Available |P12927|NTP2_VACCW Nucleoside triphosphatase II OS=Vaccinia virus (strain Western Reserve) Align length 54 S... II OS=Vaccinia virus (strain Western Reserve) GN=NPH2 PE=1 SV=2 Length = 676 Sco...ation of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP919878|Adiantum capillus-vener...YMU001_000130_C01 531 Adiantum capillus-veneris mRNA. clone: YMU001_000130_C01. BP9...19878 - Show BP919878 Clone id YMU001_000130_C01 Library YMU01 Length 531 Definition Adiantum capillus-veneris mRNA. clone

  10. AcEST: BP915098 [AcEST

    Lifescience Database Archive (English)

    Full Text Available programs, Nucleic Acids Res. 25:3389-3402. Query= BP915098|Adiantum capillus-veneris mRNA, clone...... 52 1e-05 tr|Q43625|Q43625_PEA Putative ORF; conserved in 5' leaders of pl... ... ORF; conserved in 5' leaders of plant SAMdC OS=Pisum sativum PE=4 SV=1 Length = 54 Score =...YMU001_000066_E02 480 Adiantum capillus-veneris mRNA. clone: YMU001_000066_E02. BP9...15098 - Show BP915098 Clone id YMU001_000066_E02 Library YMU01 Length 480 Definition Adiantum capillus-veneris mRNA. clone

  11. AcEST: BP914124 [AcEST

    Lifescience Database Archive (English)

    Full Text Available jandro A. Schaffer, Jinghui Zhang, Zheng Zhang, Webb Miller, and David J. Lipman (1997), Gapped BL...2008] Reference: Altschul, Stephen F., Thomas L. Madden, Alejandro A. Schaffer, Jinghui Zhang, Zheng Zhang, Webb Mille...ery= BP914124|Adiantum capillus-veneris mRNA, clone: YMU001_000042_B06. (320 letters) Database: uniprot_spro...tion of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP914124|Adiantum capillus...YMU001_000042_B06 320 Adiantum capillus-veneris mRNA. clone: YMU001_000042_B06. BP9

  12. AcEST: BP919971 [AcEST

    Lifescience Database Archive (English)

    Full Text Available ce: Altschul, Stephen F., Thomas L. Madden, Alejandro A. Schaffer, Jinghui Zhang, Zheng Zhang, Webb Mille...affer, Jinghui Zhang, Zheng Zhang, Webb Miller, and David J. Lipman (1997), Gappe...in database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP919971|Adiantum capillus-veneris mRNA.... Query= BP919971|Adiantum capillus-veneris mRNA, clone: YMU001_000131_D09. (312 letters) Database: uniprot_...YMU001_000131_D09 312 Adiantum capillus-veneris mRNA. clone: YMU001_000131_D09. BP9

  13. AcEST: BP912179 [AcEST

    Lifescience Database Archive (English)

    Full Text Available jandro A. Schaffer, Jinghui Zhang, Zheng Zhang, Webb Miller, and David J. Lipman (1997), Gapped...nghui Zhang, Zheng Zhang, Webb Miller, and David J. Lipman (1997), Gapped BLAST and PSI-BLAST: a new generat...ic Acids Res. 25:3389-3402. Query= BP912179|Adiantum capillus-veneris mRNA, clone: YMU001_000016_A11. (549 le...ion of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP912179|Adiantum capill...YMU001_000016_A11 549 Adiantum capillus-veneris mRNA. clone: YMU001_000016_A11. BP9

  14. AcEST: BP915724 [AcEST

    Lifescience Database Archive (English)

    Full Text Available andro A. Schaffer, Jinghui Zhang, Zheng Zhang, Webb Miller, and David J. Lipman (1997), Gapped BLAST and PSI...02-2008] Reference: Altschul, Stephen F., Thomas L. Madden, Alejandro A. Schaffer, Jinghui Zhang, Zheng Zhang, Webb Mille...25:3389-3402. Query= BP915724|Adiantum capillus-veneris mRNA, clone: YMU001_000076_A12. (520 letters) Databa...YMU001_000076_A12 520 Adiantum capillus-veneris mRNA. clone: YMU001_000076_A12. BP9...15724 - Show BP915724 Clone id YMU001_000076_A12 Library YMU01 Length 520 Definition Adiantum capillus-vener

  15. AcEST: BP920355 [AcEST

    Lifescience Database Archive (English)

    Full Text Available sphosulfate reductase OS=Serratia proteamaculans (strain 568) GN=cysH PE=3 SV=1 L...20355 - Show BP920355 Clone id YMU001_000136_B07 Library YMU01 Length 298 Definition Adiantum capillus-vener...on of protein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920355|Adiantum capillus-vener...1 AWQEARYGKLWE---QGVEGIERYNDLN-KVEPMNRALE 145 >sp|Q8JGS1|STIL_DANRE SCL-interrupting locus protein homolog OS=Danio rerio GN=sti...otein database search programs, Nucleic Acids Res. 25:3389-3402. Query= BP920355|Adiantum capillus-vener

  16. Modelling and Analysis of Dynamic Reconfiguration in BP-Calculus

    DEFF Research Database (Denmark)

    Abouzaid, Faisal; Mullins, John; Mazzara, Manuel;

    2012-01-01

    The BP-calculus is a formalism based on the π-calculus and encoded in WS-BPEL. The BP-calculus is intended to specificaly model and verify Service Oriented Applications. One important feature of SOA is the ability to compose services that may dynamically evolve along runtime. Dynamic...... reconfiguration of services increases their availability, but puts accordingly, heavy demands for validation, verification, and evaluation. In this paper we formally model and analyze dynamic reconfigurations and their requirements in BP-calculus and show how reconfigurable components can be modeled using...

  17. AcEST: BP917190 [AcEST

    Lifescience Database Archive (English)

    Full Text Available lignments: (bits) Value sp|Q9JHC9|ELF2_MOUSE ETS-related transcription factor Elf-2 OS=M... 30 4.2 sp...YMU001_000097_D09 473 Adiantum capillus-veneris mRNA. clone: YMU001_000097_D09. BP9...17190 - Show BP917190 Clone id YMU001_000097_D09 Library YMU01 Length 473 Definition Adiantum capillus-veneris...|Q9JHC9|ELF2_MOUSE ETS-related transcription factor Elf-2 O...eic Acids Res. 25:3389-3402. Query= BP917190|Adiantum capillus-veneris mRNA, clon

  18. Mutational Mechanisms of Williams-Beuren Syndrome Deletions

    OpenAIRE

    Bayés, Mònica; Magano, Luis F.; Rivera, Núria; Flores, Raquel; A. Pérez Jurado, Luis

    2003-01-01

    Williams-Beuren syndrome (WBS) is a segmental aneusomy syndrome that results from a heterozygous deletion of contiguous genes at 7q11.23. Three large region-specific low-copy repeat elements (LCRs), composed of different blocks (A, B, and C), flank the WBS deletion interval and are thought to predispose to misalignment and unequal crossing-over, causing the deletions. In this study, we have determined the exact deletion size and LCR copy number in 74 patients with WBS, as well as precisely de...

  19. How to write, delete, and drive skyrmions

    International Nuclear Information System (INIS)

    Skyrmions were originally proposed by British physicist Tony Skyrme in the 1960s as topological solitons to account for the stability of baryons in particle physics. Realization of skyrmions as vortex-like swirling spin textures was discovered in ferromagnets with chiral crystal symmetry, in which ferromagnetic-exchange interactions favoring parallel spin alignment and Dzyaloshinskii-Moriya interactions favoring rotational spin alignment strongly compete. Subsequent studies have revealed that skyrmions possess numerous advantageous properties for application to information carriers in high-density and low-energy-consuming magnetic memories and logic devices. These properties are: (1) topologically protected stability, (2) small nanometric size, (3) rather high transition temperatures, and (4) ultralow fields or electric currents to drive their motion. This article first introduces fundamental properties of skyrmions and skyrmionic materials and then presents recent attempts and ideas on writing, deleting, and driving skyrmions towards establishing their functions in memory devices. (author)

  20. Network Traffic Prediction based on Particle Swarm BP Neural Network

    Directory of Open Access Journals (Sweden)

    Yan Zhu

    2013-11-01

    Full Text Available The traditional BP neural network algorithm has some bugs such that it is easy to fall into local minimum and the slow convergence speed. Particle swarm optimization is an evolutionary computation technology based on swarm intelligence which can not guarantee global convergence. Artificial Bee Colony algorithm is a global optimum algorithm with many advantages such as simple, convenient and strong robust. In this paper, a new BP neural network based on Artificial Bee Colony algorithm and particle swarm optimization algorithm is proposed to optimize the weight and threshold value of BP neural network. After network traffic prediction experiment, we can conclude that optimized BP network traffic prediction based on PSO-ABC has high prediction accuracy and has stable prediction performance.