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1

Analysis of the transcript encoding the latent Epstein-Barr virus nuclear antigen I: a potentially polycistronic message generated by long-range splicing of several exons.  

UK PubMed Central (United Kingdom)

The Epstein-Barr virus nuclear antigen (EBNA I) present in latently infected cells is encoded in a 2-kilobase exon contained in the BamHI K viral genomic fragment. This exon is, however, found within...Full Text Available

1985-12-01

2

The human gastrin/cholecystokinin type B receptor gene: alternative splice donor site in exon 4 generates two variant mRNAs.  

UK PubMed Central (United Kingdom)

Gastrin and its carboxyl-terminal homolog cholecystokinin (CCK) exert a variety of biological actions in the brain and gastrointestinal tract that are mediated in part through one or more G protein-coupled...Full Text Available

1993-10-01

3

Cloning of the cDNA and gene for a human D sub 2 dopamine receptor  

Energy Technology Data Exchange (ETDEWEB)

A clone encoding a human D{sub 2} dopamine receptor was isolated from a pituitary cDNA library and sequenced. The deduced protein sequence is 96% identical with that of the cloned rat receptor with one major difference: the human receptor contains an additional 29 amino acids in its putative third cytoplasmic loop. Southern blotting demonstrated the presence of only one human D{sub 2} receptor gene. Two overlapping phage containing the gene were isolated and characterized. DNA sequence analysis of these clones showed that the coding sequence is interrupted by six introns and that the additional amino acids present in the human pituitary receptor are encoded by a single exon of 87 base pairs. The involvement of this sequence in alternative splicing and its biological significance are discussed.

1989-12-01

4

The behavior of bonded doubler splices for composite sandwich panels  

Science.gov (United States)

The results of an investigation into the behavior of adhesively bonded doubler splices of two composite material sandwich panels are presented. The splices are studied from three approaches: analytical; numerical (finite elements); and experimental. Several parameters that characterize the splice are developed to determine their influence upon joint strength. These parameters are: doubler overlap length; core stiffness; laminate bending stiffness; the size of the gap between the spliced sandwich panels; and room and elevated temperatures. Similarities and contrasts between these splices and the physically similar single and double lap joints are discussed. The results of this investigation suggest several possible approaches to improving the strength of the sandwich splices.

1980-07-01

5

TassDB2 - A comprehensive database of subtle alternative splicing events  

UK PubMed Central (United Kingdom)

BackgroundSubtle alternative splicing events involving tandem splice sites separated by a short (2-12 nucleotides) distance are frequent and evolutionarily widespread in eukaryotes,...Full Text Available

6

A novel Na+ channel splice form contributes to the regulation of an androgen-dependent social signal  

UK PubMed Central (United Kingdom)

Na+ channels are often spliced but little is known about the functional consequences of splicing. We have been studying the regulation of Na+ current inactivation in an...Full Text Available

2008-09-10

7

Sequence features involved in the mechanism of 3' splice junction wobbling  

UK PubMed Central (United Kingdom)

BackgroundAlternative splicing is an important mechanism mediating the diversified functions of genes in multicellular organisms, and such event occurs in around 40-60% of human...Full Text Available

9

Synaptic Signaling and Aberrant RNA Splicing in Autism Spectrum Disorders  

UK PubMed Central (United Kingdom)

Interactions between presynaptic and postsynaptic cellular adhesion molecules (CAMs) drive synapse maturation during development. These trans-synaptic interactions are regulated by alternative splicing...Full Text Available

10

In vitro dimerization of human immunodeficiency virus type 1 (HIV-1) spliced RNAs  

UK PubMed Central (United Kingdom)

The human immunodeficiency virus type 1 (HIV-1) packages its genomic RNA as a dimer of homologous RNA molecules that has to be selected among a multitude of cellular and viral RNAs. Interestingly, spliced...Full Text Available

2007-12-01

11

Defective hepatitis B virus particles are generated by packaging and reverse transcription of spliced viral RNAs in vivo.  

UK PubMed Central (United Kingdom)

Generation of replicative defective viruses is frequently observed during viral infections. We now report that encapsidation and reverse transcription of spliced viral RNA is an additional mechanism...Full Text Available

1991-10-01

12

Conserved Alternative Splicing and Expression Patterns of Arthropod N-Cadherin  

UK PubMed Central (United Kingdom)

Metazoan development requires complex mechanisms to generate cells with diverse function. Alternative splicing of pre-mRNA not only expands proteomic diversity but also provides a means to regulate...Full Text Available

2009-04-01

14

DESIGN, MANUFACTURE, DEVELOPMENT, TEST, AND EVALUATION OF BORON ...  

Science.gov (United States)

the shear-beam design and the larger scale component test specimen. The subcompo - nents designed were: a. Web splice specimen. ...

15

The ovalbumin gene family: complete sequence and structure of the Y gene.  

UK PubMed Central (United Kingdom)

The "ovalbumin Y" gene, one of three which constitute the ovalbumin gene family in chicken has been completely sequenced. The exact location of exons can be derived from the comparison with the ovalbumin...Full Text Available

1982-07-24

16

Polymorphisms in the p53 gene in thyroid tumours and blood samples of children from areas in Belarus  

International Nuclear Information System (INIS)

We present changes in the p53 gene in a group of 70 thyroid tumours and 40 blood samples obtained from children from Belarus. Three thyroid tumours show a polymorphism in exon 6 (codon 213) and 5 tumours show a polymorphism in intron 6, 37 bp upstream to the 5'-end of exon 7. Only one patient has a mutation in exon 7 (codon 258) resulting in an amino acid substitution in the protein p53. The distribution of polymorphisms in the 40 blood samples was as follows: three patients had a polymorphism in exon 6 and two persons had a polymorphism in intron 6. One polymorphism in intron 6 was also found in the group of 30 healthy children from Belarus. The fact that the differences in the sequence in p53 found in the tumours was also seen in the blood of these patients demonstrates that they are polymorphisms not induced by radiation exposure. It is difficult to conclude, if the polymorphisms found by us could be ...

17

Mechanism of Dephosphorylation of the SR Protein ASF/SF2 by Protein Phosphatase 1  

British Library Electronic Table of Contents (United Kingdom)

SR proteins are essential splicing factors whose function is controlled by multi-site phosphorylation of a C-terminal domain rich in arginine-serine repeats (RS domain). The protein kinase SRPK1 has been shown to polyphosphorylate the N-terminal portion of the RS domain (RS1) of the SR protein ASF/SF2, a modification that promotes nuclear entry of this splicing factor and engagement in splicing function. Later, dephosphorylation is required for maturation of the spliceosome and other RNA processing steps. While phosphates are attached to RS1 in a sequential manner by SRPK1, little is known about how they are removed. To investigate factors that control dephosphorylation, we monitored region-specific mapping of phosphorylation sites in ASF/SF2 as a function of the protein phosphatase PP1. W...

2010-01-01

18

The Vasoactive Potential of Kisspeptin-10 in the Peripheral Vasculature  

UK PubMed Central (United Kingdom)

Splice products of the Kiss1 protein (kisspeptins) have been shown to be involved in a diverse range of functions, including puberty, metastasis and vasoconstriction in large human arteries. Circulating...Full Text Available

19

Splice assembly tool and method of splicing  

Energy Technology Data Exchange (ETDEWEB)

A splice assembly tool for assembling component parts of an electrical conductor while producing a splice connection between electrical cables therewith, comprises a first structural member adaptable for supporting force applying means thereon, said force applying means enabling a rotary force applied manually thereto to be converted to a longitudinal force for subsequent application against a first component part of said electrical connection, a second structural member adaptable for engaging a second component part in a manner to assist said first structural member in assembling the component parts relative to one another and transmission means for conveying said longitudinal force between said first and said second structural members, said first and said second structural members being coupled to one another by said transmission means, wherein at least one of said component parts comprises a tubular elastomeric sleeve and said force applying ...

1980-01-01

20

Improving the Arabidopsis genome annotation using maximal transcript alignment assemblies  

UK PubMed Central (United Kingdom)

The spliced alignment of expressed sequence data to genomic sequence has proven a key tool in the comprehensive annotation of genes in eukaryotic genomes. A novel algorithm was developed to assemble...Full Text Available

2003-10-01

 
 
 
 
21

Characterization, phylogeny, alternative splicing and expression of Sox30 gene  

UK PubMed Central (United Kingdom)

BackgroundMembers of the Sox gene family isolated from both vertebrates and invertebrates have been proved to participate in a wide variety of developmental processes, including...Full Text Available

22

A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features  

UK PubMed Central (United Kingdom)

PurposeTo detail the highly variable ocular phenotypes of a French family affected with an autosomal dominantly inherited vitreoretinopathy and to identify the disease gene.MethodsSixteen...Full Text Available

23

The mouse formin (Fmn) gene: Genomic structure, novel exons, and genetic mapping  

Energy Technology Data Exchange (ETDEWEB)

Mutations in the mouse formin (Fmn) gene, formerly known as the limb deformity (ld) gene, give rise to recessively inherited limb deformities and renal malformations or aplasia. The Fmn gene encodes many differentially processed transcripts that are expressed in both adult and embryonic tissues. To study the genomic organization of the Fmn locus, we have used Fmn probes to isolate and characterize genomic clones spanning 500 kb. Our analysis of these clones shows that the Fmn gene is composed of at least 24 exons and spans 400 kb. We have identified two novel exons that are expressed in the developing embryonic limb bud as well as adult tissues such as brain and kidney. We have also used a microsatellite polymorphism from within the Fmn gene to map it genetically to a 2.2-cM interval between D2Mit58 and D2Mit103. 36 refs., 6 figs., 1 tab.

1997-02-01

24

Presence of the CYP2B6 516G> T polymorphism, increased plasma Efavirenz concentrations and early neuropsychiatric side effects in South African HIV-infected patients  

UK PubMed Central (United Kingdom)

BackgroundThe 516G > T polymorphism in exon 4 of the CYP2B6 gene has been associated with increased plasma Efavirenz (EFV) concentrations. EFV concentrations...Full Text Available

25

Methylation similarities of two CpG sites within exon 5 of human H19 between normal tissues and testicular germ cell tumours of adolescents and adults, without correlation with allelic and total level of expression.  

UK PubMed Central (United Kingdom)

Testicular germ cell tumours (TGCTs) of adolescents and adults morphologically mimic different stages of embryogenesis. Established cell lines of these cancers are used as informative models to study...Full Text Available

1997-01-01

26

Genetic Variation among Major Human Geographic Groups Supports a Peculiar Evolutionary Trend in PAX9  

UK PubMed Central (United Kingdom)

A total of 172 persons from nine South Amerindian, three African and one Eskimo populations were studied in relation to the Paired box gene 9 (PAX9) exon 3 (138 base...Full Text Available

27

Discordant expression and variable numbers of neighboring GGA- and GAA-rich triplet repeats in the 3' untranslated regions of two groups of messenger RNAs encoded by the rat polymeric immunoglobulin receptor gene.  

UK PubMed Central (United Kingdom)

An unusual S1-nuclease sensitive microsatellite (STMS) has been found in the single copy, rat polymeric immunoglobulin receptor gene (PIGR) terminal exon. In Fisher rats, elements within or beyond the...Full Text Available

1995-04-11

28

Differential expression of human Fas mRNA species upon peripheral blood mononuclear cell activation.  

UK PubMed Central (United Kingdom)

Human Fas/Apo-1 is a cell-surface protein that mediates apoptosis upon ligation with Fas ligand. The gene lies on the long arm of chromosome 10, consists of nine exons, and spans more than 26 kb of...Full Text Available

1995-09-15

29

The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding.  

UK PubMed Central (United Kingdom)

We have isolated and sequenced cDNA clones encoding the human U1-70K snRNP protein, and have mapped this locus (U1AP1) to human chromosome 19. The gene produces two size classes of RNA, a major 1.7-kb...Full Text Available

1987-12-23

30

Selective Expression in Carotid Body Type I Cells of a Single Splice Variant of the Large Conductance Calcium- and Voltage-activated Potassium Channel Confers Regulation by AMP-activated Protein Kinase*  

UK PubMed Central (United Kingdom)

Inhibition of large conductance calcium-activated potassium (BKCa) channels mediates, in part, oxygen sensing by carotid body type I cells. However, BKCa channels remain active...Full Text Available

2011-04-08

31

Identification of a Drosophila G protein alpha subunit (dGq alpha-3) expressed in chemosensory cells and central neurons.  

UK PubMed Central (United Kingdom)

We have identified another Drosophila GTP-binding protein (G protein) alpha subunit, dGq alpha-3. Transcripts encoding dGq alpha-3 are derived from alternative splicing of the dGq alpha locus previously...Full Text Available

1995-12-05

32

Expression of alternatively spliced human T-lymphotropic virus type I pX mRNA in infected cell lines and in primary uncultured cells from patients with adult T-cell leukemia/lymphoma and healthy carriers.  

UK PubMed Central (United Kingdom)

Although human T-cell lymphotropic virus type I (HTLV-I) is the etiologic agent of adult T-cell leukemia/lymphoma (ATL), the role of viral gene expression in the progression to and maintenance of the...Full Text Available

1992-04-01

33

Evaluation of 230 kV HPFF pipe-type cable with wrinkled and creased insulating tapes  

Energy Technology Data Exchange (ETDEWEB)

Severe collapse wrinkles and circumferential creases were discovered in the cellulose paper insulating tapes of a newly installed IIPFF pipe-type cable during splicing and terminating. An evaluation program was developed to assess the electrical and mechanical integrity of the cable having wrinkled and creased insulating tapes. The test results indicated that the cable would perform satisfactorily in service.

1995-01-01

34

Alternative mRNA Splicing Produces a Novel Biologically Active Short Isoform of PGC-1?*  

UK PubMed Central (United Kingdom)

The transcriptional co-activator PGC-1α regulates functional plasticity in adipose tissue by linking sympathetic input to the transcriptional program of adaptive thermogenesis. We report here...Full Text Available

2009-11-20

35

A Targeted Bypass Screen Identifies Ynl187p, Prp42p, Snu71p, and Cbp80p for Stable U1 snRNP/Pre-mRNA Interaction?  

UK PubMed Central (United Kingdom)

To understand how DEXD/H-box proteins recognize and interact with their cellular substrates, we have been studying Prp28p, a DEXD/H-box splicing factor required for switching the U1 snRNP with the U6...Full Text Available

2009-07-01

36

Molecular cloning of the human homeobox gene goosecoid (GSC) and mapping of the gene to human chromosome 14q32. 1  

Energy Technology Data Exchange (ETDEWEB)

Goosecoid is a homeobox gene first isolated from a Xenopus dorsal lip cDNA library. Homologous genes have been isolated from mouse, zebrafish, and chick. In all species examined, the gene is expressed and plays an important role during the process of gastrulation in early embryonic development. The authors report here the cloning of the human goosecoid (GSC) from a genomic library and the sequence of its encoded protein. The genomic organization and protein sequence of the human gene are highly conserved with respect to those of its Xenopus and mouse counterparts: all three genes consist of three exons, with conserved exon-intron boundaries. The sequence of the homeo-domain is 100% conserved in most vertebrates. Using somatic cell hybrid and chromosomal in situ hybridization, the gene was mapped to chromosome 14q32.1. 30 refs., 3 figs., 2 tabs.

1994-05-15

37

Genomic cloning and chromosomal localization of HRY, the human homolog to the Drosophila segmentation gene, hairy  

Energy Technology Data Exchange (ETDEWEB)

The Drosophila hairy gene encodes a basic helix- loop-helix protein that functions in at least two steps during Drosophila development: (1) during embryogenesis, when it partakes in the establishment of segments, and (2) during the larval stage, when it functions negatively in determining the pattern of sensory bristles on the adult fly. In the rat, a structurally homologous gene (RHL) behaves as an immediate-early gene in its response to growth factors and can, like that in Drosophila, suppress neuronal differentiation events. Here, the authors report the genomic cloning of the human hairy gene homolog (HRY). The coding region of the gene is contained within four exons. The predicted amino acid sequence reveals only four amino acid differences between the human and rat genes. Analysis of the DNA sequence 5[prime] to the coding region reveals a putatitve untranslated exon. To increase the value of the HRY gene as a genetic marker and to assess ...

1994-03-01

38

Genetic organization of Bungarus multicinctus protease inhibitor-like proteins.  

Science.gov (United States)

The structural organization of the genes encoding Bungarus multicinctus protease inhibitor-like proteins (PILPs), PILP-1, PILP-2 and PILP-3, are reported in this study. Unlike PILP-2 and PILP-3, recombinant PILP-1 exhibited inhibitory activity on trypsin. PILP genes and B chain genes shared identical organization with three exons interrupted by two introns in similar positions. On the contrary, intron 1 of these genes had a similar size, a notable variation with the size of intron 2 was observed. It was found that two regions at the second intron of B1 chain and B2 chain genes were absent in that of PILP genes. Noticeably, intronic insertion in the second intron of B chain genes appeared in the promoter region of PILP-1 gene, but not in that of PILP-2 and PILP-3 genes. Comparative analyses of PILP genes and B chain genes showed that the protein-coding regions of the exons are more diverse than introns, except for in the signal peptide domain. ...

2008-03-27

39

A single amino acid substitution results in a retinoblastoma protein defective in phosphorylation and oncoprotein binding  

International Nuclear Information System (INIS)

The authors have previously identified a small-cell lung cancer cell line (NCI-H209) that expresses an aberrant, underphosphorylated form of the retinoblastoma protein RB1. Molecular analysis of RB1 mRNA from this cell line revealed a single point mutation within exon 21 that resulted in a nonconservative amino acid substitution (cysteine to phenylalanine) at codon 706. Stable expression of this mutant RB1 cDNA in a human cell line lacking endogenous RB1 demonstrated that this amino acid change was sufficient to inhibit phosphorylation. In addition, this cysteine-to-phenylalanine substitution also resulted in loss of RB1 binding to the simian virus 40 large tumor and adenovirus E1A transforming proteins. These results confirm the importance of exon 21 coding sequences and suggest that the cysteine residue at codon 706 may play a role in achieving a specific protein conformation essential for protein-protein interactions.

40

A catalase from the freshwater mussel Cristaria plicata with cloning, identification and protein characterization  

British Library Electronic Table of Contents (United Kingdom)

Catalase is an important antioxidant protein which can protect organisms against various oxidative stresses by eliminating hydrogen peroxide. The catalase cDNA of Cristaria plicata@?cpCAT@? was cloned from the haemocytes using degenerate primers by the method of 3' and 5' rapid amplification of cDNA ends PCR. The gene is 4863 bp long and has a total of two introns and three exons. The precise size and location of the introns and exons have been determined. In addition the full-length cDNA of cpCAT contained 2618 bp, The cDNA contained a 5' untranslated region (UTR) of 136 nucleotides, the 3' UTR of 979 bp with a canonical polyadenylation signal sequence AATAAA and a polyA tail, and an open reading frame (ORF) of 1503 bp, encoding 501 amino acid residues with 56.86 kDa predicted molecular w...

2011-01-01

 
 
 
 
41

Exons, Introns and Talking Genes: The Sience Behind the Human Genome Project  

Energy Technology Data Exchange (ETDEWEB)

This book presents in simple terms the basis of molecular genetics and how it is used to obtain an understanding of the human genome. The author's central focus is the transistion of genetics from statistics to experimental manipulations, and he offers analogies that help readers visualize the genome, thereby avoiding conventional scientific presentations. He illustrates how genetics is used in scientific laboratories, in courtrooms, and in hospitals. Little is presented about the complex social and ethical issues raised by the Human Genome project.

1993-01-01

42

Occurrence of mutations in the epidermal growth factor receptor gene in X-ray-induced rat lung tumors  

International Nuclear Information System (INIS)

Epidermal growth factor receptor (EGFR) gene alterations have been found in human lung cancers. However, there is no information on the factors inducing EGFR mutations. In rodents, K-ras mutations are frequently found in many lung carcinogenesis models, but hitherto, Egfr mutations have not been reported. Their presence was therefore investigated in representative lung carcinogenesis models with 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK), N-nitrosobis(2-hydroxypropyl)amine (BHP), 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline (MelQx) and ethyl carbamate (urethane), as well as X-ray irradiation. With the chemical carcinogenesis models, no mutations were detected in Egfr, which is in clear contrast to the high rates observed in either codon 12 or 61 of K-ras (21/23 of the lung tumors induced with NNK, 4/5 with MelQx, 1/4 with urethane and 7/18 with BHP). However, in the X-ray-induced lung tumors, Egfr mutations with amino acid substitution were observed in ...

2008-02-01

43

PILC cable technology and accessories  

Energy Technology Data Exchange (ETDEWEB)

Studies were conducted to examine the pressure on fluid-filled cables of electric power transmission networks in the event of an oil leak. Transition splices between paper-insulated oil-impregnated cable systems (PILC) and solid dielectric cable is difficult to perform. A proper PILC is composed of a means to contain oil within the cable structure and to keep moisture out. A failure of the cable joint could occur if an oil leak dries out the paper. Since oil pressure in most PILC cables is high, strong mechanical means must be devised to contain the oil within the cable. Resin systems, heat shrink systems and wiped lead sleeves to reseal the PILC cable over the splice, are among the methods used to stop an oil leak. A system has been designed using an EPDM tube contained under mechanical pressure; it has proven to be effective over a wide range of pressure conditions. Test results utilizing this system were presented. 1 ref., 1 tab., 4 figs.

1996-08-01

44

Detection of Second-Layer Corrosion in Aging Aircraft Fuselage  

International Nuclear Information System (INIS)

A Digital X-ray imaging system using Compton backscattering has been developed to obtain a cross-sectional profile and mass loss of corroded lap-splices of aging aircraft from density variation. A slit-type camera was designed to focus on a small scattering volume inside the material, from which the backscattered photons are collected by a collimated scintillator detector for interpretation of material characteristics. The cross section of the lap-joint is scanned by moving the scattering volume through the thickness direction of the specimen. The mass loss of each layer has been estimated from a Compton backscatter A-scan to obtain the thickness of each layer including the aluminum sheet, the corrosion layer and the sealant. Quantitative information such as location and width of planar corrosion in the lap splices of fuselages is obtained by deconvolution using a nonlinear least-square error minimization method(BFGS method): A simple ...

2006-12-01

45

Sequence analysis of the ATM gene in 20 patients with RTOG grade 3 or 4 acute and/or late tissue radiation side effects  

International Nuclear Information System (INIS)

Purpose: Patients with ataxia-telangiectasia (A-T) show greatly increased radiation sensitivity and cancer predisposition. Family studies imply that the otherwise clinically silent heterozygotes of this autosomal recessive disease run a 3.5 to 3.8 higher risk of developing cancer. In vitro studies suggest moderately increased cellular radiation sensitivity of A-T carriers. They may also show elevated clinical radiosensitivity. We retrospectively examined patients who presented with severe adverse reactions during or after standard radiation treatment for mutations in the gene responsible for A-T, ATM, considering a potential means of future identification of radiosensitive individuals prospectively to adjust dosage schedules. Material and Methods: We selected 20 cancer patients (breast, 11; rectum, 2; ENT, 2; bladder, 1; prostate, 1; anus, 1; astrocytoma, 1; Hodgkins lymphoma, 1) with Grade 3 to 4 (RTOG) acute and/or late tissue radiation side effects by reaction severity. DNA from the ...

1999-07-15

46

The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein  

British Library Electronic Table of Contents (United Kingdom)

DFNA5 was first identified as a gene causing autosomal dominant hearing loss (HL). Different mutations have been found, all exerting a highly specific gain-of-function effect, in which skipping of exon 8 causes the HL. Later reports revealed the involvement of the gene in different types of cancer. Epigenetic silencing of DFNA5 in a large percentage of gastric, colorectal and breast tumors and p53-dependent transcriptional activity have been reported, concluding that DFNA5 acts as a tumor suppressor gene in different frequent types of cancer. Despite these data, the molecular function of DFNA5 has not been investigated properly. Previous transfection studies with mutant DFNA5 in yeast and in mammalian cells showed a toxic effect of the mutant protein, which was not seen after transfection ...

2011-01-01

47

Mannose-binding lectin codon 54 gene polymorphism in relation to risk of nosocomial invasive fungal infection in preterm neonates in the neonatal intensive care unit  

British Library Electronic Table of Contents (United Kingdom)

Objective. Preterm neonates are susceptible to infection due to a combination of sub-optimal immunity and increased exposure to invasive organisms. Invasive fungal infections are associated with significant morbidity and mortality among preterm infants cared for in the neonatal intensive care unit (NICU). Mannose-binding lectin (MBL) is a component of the innate immune system, which may be especially important in the neonatal setting. The objective of this study was to investigate the presence of any association between MBL gene polymorphism and nosocomial invasive fungal infection in preterm neonates. Methods. Codon 54 (B allele) polymorphism in exon 1 of the MBL gene was investigated in 31 patients diagnosed as nosocomial invasive fungal infection and 30 control preterm neonates. Results...

2011-01-01

48

Isolation and characterization of an ornithine aminotransferase-related sequence (OATL3) mapping to 10q26  

Energy Technology Data Exchange (ETDEWEB)

The authors used a near full-length human ornithine [delta]-aminotransferase cDNA, huOAT6, as a probe under low stringency hybridization conditions to identify a new autosomal ornithine [delta]-aminotransferase-related sequence (OATL3). Cloning and characterization of this sequence reveal it to be a partial nonprocessed pseudogene corresponding to exon 3 and flanking intronic sequences of the ornithine [delta]-aminotransferase structural gene. Using somatic cell hybrids and fluorescence in situ hybridization, they mapped OATL3 to 10q26, adjacent to the ornithine [delta]-aminotransferase structural gene locus. 13 refs., 3 figs.

1993-08-01

49

Involvement of the Tpl-2/cot oncogene in MMTV tumorigenesis.  

Science.gov (United States)

We report for the first time a relationship between the Tpl-2/cot oncogene and Mouse Mammary Tumor Virus (MMTV) associated transformation of mammary gland cells. A sub-genomic library generated from a primary mammary gland tumor yielded a novel MMTV integration site which disrupted the Tpl-2/cot proto-oncogene between exons 7 and 8. Comparison of a cell line derived from normal mammary gland (comma-D) and a cell line established from an MMTV induced mammary tumor (GR) demonstrated similar rearrangements within Tpl-2/cot for the GR cells but not in the comma-D cells. These rearrangements in the cell line were accompanied by an increase in the level of Tpl-2/cot specific mRNA. This data suggests that Tpl-2/cot expression may be important in epithelial cell transformation or tumor progression. PMID:8934549

1996-11-01

50

Human and rat mast cell high-affinity immunoglobulin E receptors: Characterization of putative. alpha. -chain gene products  

Energy Technology Data Exchange (ETDEWEB)

The authors have cloned and determined the entire nucleotide sequence of cDNAs corresponding to the putative {alpha} subunits of the human and rat mast cell high-affinity IgE receptors. Both human and rat cDNAs encode an NH{sub 2}-terminal signal peptide, two immunoglobulin-like extracellular domains (encoded by discrete exons), a hydrophobic transmembrane region, and a positively charged cytoplasmic tail. The human and rat {alpha} subunits share an overall homology with one another and the immunoglobulin gene family, suggesting that they arose from a common ancestral gene and continue to share structural homology with their ligands. In addition, the rat gene is transcribed into at least three distinct forms, each of which yields a somewhat different coding sequence.

1988-03-01

51

[Molecular analysis of cytoplasmic male sterility]. Progress report, June 1, 1989--June 15, 1991  

Energy Technology Data Exchange (ETDEWEB)

We have determined the actual RNA sequence of four mitochondrial genes: pcf, nad3, rps12, and coxII. Because plant mitochondrial proteins cannot be predicted from DNA sequences, the actual primary structures of the encoded proteins were unknown. We have gained information concerning the process of RNA editing. Editing can occur before splicing. Our data is consistent with the hypothesis that RNA editing is not simultaneous with transcription. Unlike other systems, the process of editing in plant does not exhibit a discernable direction. As a result of our RNA editing studies, we have produced a number of clones of the proper coding regions tube used for incorporating these mitochondrial genes into the nucleus. 6 refs., 4 figs.

1991-12-31

52

Tissue-specific expression of Fgfr2b and Fgfr2c isoforms, Fgf10 and Fgf9 in the developing chick mandible  

British Library Electronic Table of Contents (United Kingdom)

SummaryExperimental evidence has demonstrated the importance of FGF signalling in morphogenesis of the mandibular processes. FGFs transmit their signals through four tyrosine kinase transmembrane receptors (FGFRs). Alternative splicing in FGFRs including FGFR2 generates different isoforms that exhibit different ligand-specificities, exclusive tissue distributions and specific biological functions. Despite extensive information regarding the isoform-specific patterns of expression Fgfr2c and Fgfr2b during morphogenesis of many organs, a comparative analysis of these specific isoforms in the chick mandible has not been reported. To better understand the function of FGFR2 in mandibular morphogenesis, we have analysed the expression Fgfr2b, Fgfr2c and their putative ligands Fgf10 and Fgf9, in ...

2006-01-01

53

Selective changes of retroelement expression in human prostate cancer  

British Library Electronic Table of Contents (United Kingdom)

Retroelements constitute a large part of the human genome. These sequences are mostly silenced in normal cells, but genome-wide DNA hypomethylation in cancers might lead to their re-expression. Whether this re-expression really occurs in human cancers is largely unkown. We therefore investigated expression and DNA methylation of several classes of retroelements in human prostate cancer tissues and cell lines by quantitative reverse transcription-polymerase chain reaction and pyrosequencing, respectively. The most striking finding was strong and generalized increased expression of the HERV-K_22q11.23 provirus in cancers, including de novo expression of a spliced accessory Np9 transcript in some tumors. In parallel, DNA methylation in the long terminal repeat (LTR) decreased. Conversely, HER...

2011-01-01

54

Levels of mesenchymal FGFR2 signaling modulate smooth muscle progenitor cell commitment in the lung  

British Library Electronic Table of Contents (United Kingdom)

Fibroblast growth factor (FGF) signaling has been shown to regulate lung epithelial development but its influence on mesenchymal differentiation has been poorly investigated. To study the role of mesenchymal FGF signaling in the differentiation of the mesenchyme and its impact on epithelial morphogenesis, we took advantage of Fgfr2c+/? mice, which due to a splicing switch express Fgfr2b in mesenchymal tissues and manifest Apert syndrome-like phenotypes. Using a set of in vivo and in vitro studies, we show that an autocrine FGF10?FGFR2b signaling loop is established in the mutant lung mesenchyme, which has several consequences. It prevents the entry of the smooth muscle progenitors into the smooth muscle cell (SMC) lineage and results in reduced fibronectin and elastin deposition. Levels of...

2006-01-01

55

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA  

Energy Technology Data Exchange (ETDEWEB)

The Lesch-Nyhan (LN) syndrome is a severe X chromosome-linked disease that results from a deficiency of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT). The mutations leading to the disease are heterogeneous and frequently arise as de novo events. The authors have identified nucleotide alterations in 15 independently arising HPRT-deficiency cases by direct DNA sequencing of in vitro amplified HPRT cDNA. They also demonstrate that the direct DNA sequence analysis can be automated, further simplifying the detection of new mutations at this locus. The mutations include DNA base substitutions, small DNA deletions, a single DNA base insertion, and errors in RNA splicing. The application of these procedures allows DNA diagnosis and carrier identification by the direct detection of the mutant alleles within individual families affected by LN.

1989-03-01

56

GFAP in health and disease  

British Library Electronic Table of Contents (United Kingdom)

Glial fibrillary acidic protein (GFAP) is the main intermediate filament protein in mature astrocytes, but also an important component of the cytoskeleton in astrocytes during development. Major recent developments in astrocyte biology and the discovery of novel intermediate filament functions enticed the interest in the function of GFAP. The discovery of various GFAP splice variants gave an additional boost to explore this protein in more detail.The structural role of GFAP in astrocytes has been widely accepted for a long time, but over the years, GFAP has been shown to be involved in astrocyte functions, which are important during regeneration, synaptic plasticity and reactive gliosis. Moreover, different subpopulations of astrocytes have been identified, which are likely to have distinc...

2011-01-01

57

Three novel mutations responsible for Cockayne syndrome group A  

International Nuclear Information System (INIS)

Cockayne syndrome (CS) is a rare autosomal recessive disease, which shows diverse clinical symptoms such as photosensitivity, severe mental retardation and developmental defects. CS cells are hypersensitive to killing by ultraviolet (UV)-irradiation and defective in transcription-coupled repair. Two genetic complementation groups in CS (CS-A and CS-B) have been identified. We analyzed mutations of the CSA gene in 5 CS-A patients and identified 3 types of mutations. Four unrelated CS-A patients (CS2OS, CS2AW, Nps2 and CS2SE) had a deletion including exon 4, suggesting that there is a founder effect on the CSA mutation in Japanese CS-A patients. Patient CS2SE was a compound heterozygote for this deletion and an amino acid substitution at the 106th glutamine to proline (Q106P) in the WD-40 repeat motif of the CSA protein, which resulted in a defective nucleotide excision repair. Patient Mps1 had a large deletion in the upstream region including ...

2003-02-01

58

Molecular cloning, genomic organization, and expression of a testicular isoform of hormone-sensitive lipase  

Energy Technology Data Exchange (ETDEWEB)

By catalyzing the rate-limiting step in adipose tissue lipolysis, hormone-sensitive lipase (HSL) is an important regulator of energy homeostasis. The role and importance of HSL in tissues other than adipose are poorly understood. We report here the cloning and expression of a testicular isoform, designated HSL{sub tes}. Due to an addition of amino acids at the NH{sub 2}-termini, rat and human HSL{sub tes} consist of 1068 and 1076 amino acids, respectively, compared to the 768 and 775 amino acids, respectively, of the adipocyte isoform (HSL{sub adi}). A novel exon of 1.2 kb, encoding the human testis-specific amino acids, was isolated and mapped to the HSL gene, 16 kb upstream of the exons encoding HSL{sub adi}. The transcribed mRNA of 3.9 kb was specifically expressed in testis. No significant similarity with other known proteins was found for the testis-specific sequence. The amino acid composition differs from the HSL{sub adi} sequence, with ...

1996-08-01

59

Mapping of the human cone transducin {alpha} subunit (GNAT2) gene to 1p13 and mutation analysis in patients with Stargardt`s disease  

Energy Technology Data Exchange (ETDEWEB)

Transducin {alpha} subunits are members of a large family of G-proteins and play an important role in phototransduction in rod and cone photoreceptors. We report the localization of the human cone {alpha} transducin (GNAT2) gene using fluorescence in situ hybridization (FISH) on chromosome 1 in band p13. The recent assignment of a gene for Stargardt`s disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. Stargardt`s disease is characterized by degeneration in late childhood or early adulthood of the macula of the retina, a region rich in cones. We screened patients with Stargardt`s disease, with or without peripheral cone involvement as monitored by the full-field ERG, for mutations in this gene. We investigated 66 unrelated patients including 22 with peripheral cone dysfunction for mutations in the coding region of the GNAT2 gene using polymerase chain reaction-single strand conformation ...

1994-09-01

60

Heavy chain of Acanthamoeba myosine IB is a fusion of myosin-like and non-myosin-like sequences  

Energy Technology Data Exchange (ETDEWEB)

Acanthamoeba castellanii myosins IA and IB demonstrate the catalytic properties of a myosin and can support analogues of contractile and motile activity in vitro, but their single, low molecular weight heavy chains, roughly globular shapes, and inabilities to self-assemble into filaments make them structurally atypical myosins. The authors present the complete amino acid sequence of the 128-kDa myosin IB heavy chain, which they deduced from the nucleotide sequence of the gene and which reveals that the polypeptide is a fusion of myosin-like and non-myosin-like sequences. Specifically, the amino-terminal approx. 76 kDa of amino acid sequence is highly similar to the globular head sequences of conventional myosins. By contrast, the remaining approx. 51 kDa of sequence shows no similarity to any portion of conventional myosin sequences, contains regions that are rich in glycine, proline, and alanine residues, and lacks the distinctive sequence characteristics of an ..cap alpha..-helical, ...

1987-10-01

 
 
 
 
61

Heavy chain of Acanthamoeba myosine IB is a fusion of myosin-like and non-myosin-like sequences  

International Nuclear Information System (INIS)

Acanthamoeba castellanii myosins IA and IB demonstrate the catalytic properties of a myosin and can support analogues of contractile and motile activity in vitro, but their single, low molecular weight heavy chains, roughly globular shapes, and inabilities to self-assemble into filaments make them structurally atypical myosins. The authors present the complete amino acid sequence of the 128-kDa myosin IB heavy chain, which they deduced from the nucleotide sequence of the gene and which reveals that the polypeptide is a fusion of myosin-like and non-myosin-like sequences. Specifically, the amino-terminal #approx# 76 kDa of amino acid sequence is highly similar to the globular head sequences of conventional myosins. By contrast, the remaining #approx# 51 kDa of sequence shows no similarity to any portion of conventional myosin sequences, contains regions that are rich in glycine, proline, and alanine residues, and lacks the distinctive sequence characteristics of an #alpha#-helical, ...

62

Genetic heterogeneity in type 1 Gaucher disease: Multiple genotypes in Ashkenazic and non-Ashkenazic individuals  

International Nuclear Information System (INIS)

Nucleotide sequence analysis of a genomic clone from an Ashkenazic Jewish patient with type 1 Gaucher disease revealed a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change results in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. Allele-specific hybridization with oligonucleotide probes demonstrated that this mutation was found exclusively in type 1 phenotype. None of the 6 type 2 patients, 11 type 3 patients, or 12 normal controls had this allele. In contrast, 15 of 24 type 1 patients had one allele with this mutation, and 3 others were homozygous for the mutation. Furthermore, some of the Ashkenazic Jewish type 1 patients had only one allele with this mutation, suggesting that even in this population there is allelic ...

63

Assignment of the human aggrecan gene (AGC1) to 15q26 using fluorescence in situ hybridization analysis  

Energy Technology Data Exchange (ETDEWEB)

The large aggregating proteoglycan aggrecan is a major structural component of the extracellular matrix of articular cartilage. Recent cDNA cloning of the human aggrecan gene (AGC1) reveals a core protein of at least 2316 amino acids characterized by several distinct structural domains. Two globular domains, termed G1 and G2, are present at the amino terminus of the molecule and a third, termed G3, is present at the carboxy terminus. The G1 domain is homologous in structure to the cartilage link protein and accounts for the aggregating potential of aggrecan through its ability to interact with hyaluronic acid. The aggrecan gene is known to consist of 15 exons, with each exon encoding a distinct functional region of the mature protein. However, while the link protein gene is known to reside on chromosome 5 in the human, the location of the aggrecan gene is currently undetermined in any species. The probe (pAGG2) for the aggrecan gene was mapped ...

1993-05-01

64

Physical mapping of human chromosome 16. Annual progress report  

Energy Technology Data Exchange (ETDEWEB)

We aim to isolate cDNAs mapping to human chromosome 16 and localise such cDNAs on the high resolution physical map. In collaboration with LANL, PCR primers will be synthesised from cDNA sequences mapped to chromosome 16 and used as ESTs in the generation of mega-YAC contigs for this chromosome. Probing of high density cosmid grids will enable integration of the ESTs into cosmid contigs and location of the cosmid contigs on the YAC contig. A hn-cDNA library has been constructed from the hybrid CY18 which contains chromosome 16 as the only human chromosome. A modified screening protocol has been successfully developed and 15 hn-cDNA clones have been sequenced and localised on the hybrid map. Sequence analysis of four of these revealed that they were known cDNAs, which are now mapped to chromosome 16. Development of techniques to allow the isolation of longer cDNAs from the identified exons is in progress. This will depend on PCR amplification of cDNAs from a total ...

1993-08-01

65

Molecular cloning, genomic organization, and chromosomal localization of the human pancreatitis-associated protein (PAP) gene  

Energy Technology Data Exchange (ETDEWEB)

Pancreatitis-associated protein (PAP) is a secretory pancreatic protein present in small amounts in normal pancreas and overexpressed during the acute phase of pancreatitis. In this paper, the authors describe the cloning, characterization, and chromosomal mapping of the human PAP gene. The gene spans 2748 bp and contains six exons interrupted by five introns. The gene has a typical promoter containing the sequences TATAAA and CCAAT 28 and 52 bp upstream of the cap site, respectively. They found striking similarities in genomic organization as well as in the promoter sequences between the human and rat PAP genes. The human PAP gene was mapped to chromosome 2p12 using rodent-human hybrid cells and in situ chromosomal hybridization. This localization coincides with that of the reg/lithostathine gene, which encodes a pancreatic secretory protein structurally related to PAP, suggesting that both genes derived from the same ancestral gene by duplication. 35 refs., 4 ...

1994-01-01

66

Human tissue factor pathway inhibitor (TFPI) gene: Complete genomic structure and localization on the genetic map of chromosome 2q  

Energy Technology Data Exchange (ETDEWEB)

Tissue factor pathway inhibitor (TFPI), a protease inhibitor that circulates in association with plasma lipoproteins (VLDL, LDL and HDL), helps to regulate the extrinsic blood coagulation cascade. The authors have cloned a 125-kb genomic region containing the entire human TFPI gene on six overlapping cosmids and prepared a restriction map of this contig to clarify gene structure. More than half (45 kb) of the 85-kb gene is occupied with 5[prime] noncoding elements: coding begins at exon 3. A HindIII RFLP identified with one cosmid was genotyped in the CEPH panel of 559 reference families. Linkage analysis using markers on human chromosome 2 located the TFPI gene on 2q, 36 cM proximal to D2S43(pYNZ15) and 13 cM distal to the crystalline [gamma]-polypeptide locus CRYGP1(p5G1). 31 refs., 3 figs., 3 tabs.

1993-08-01

67

Hepatic aflatoxin B1-DNA adducts and TP53 mutations in patients with hepatocellular carcinoma despite low exposure to aflatoxin B1 in southern Japan  

British Library Electronic Table of Contents (United Kingdom)

Abstract Background & aims: Hepatitis B or C virus infection is considered to be the main cause of hepatocellular carcinoma (HCC) in Japan. Aflatoxin B1 (AFB1) is a carcinogen associated with HCC in regions with high exposure. Mutations in codon 249, exon 7 are a hallmark of AFB1 exposure. Therefore, to clarify the role of AFB1 in hepatocarcinogenesis, we examined AFB1-DNA in liver tissue and sequenced TP53 in Japanese patients with HCC. Methods: Hepatocyte AFB1-DNA adducts were determined immunohistochemically and direct sequencing of TP53 was done to determine mutations in 188 of 279 patients who underwent hepatic resection for HCC. We assessed hepatitis C virus antibodies (HCV Ab) and HBSAg expression; patients without either were defined as having non-B non-C hepatocellular carcinoma (...

2011-01-01

68

Characterization of a novel missense mutation on murine Pax3 through ENU mutagenesis.  

Science.gov (United States)

N-ethyl-N-nitrosourea (ENU) mutagenesis has led to the elucidation of several regulator genes for melanocyte and skin development. Here we characterized a mutant from ENU mutagenesis with similar phenotype as that of Splotch mutant, including exencephaly, spina bifida and abnormal limbs in homozygotes as well as white belly spotting and occasionally loop-tail in heterozygotes. This novel mutant was named as Sp(xG). Through genome-wide linkage analysis in backcross progenies with microsatellite markers, the Sp(xG) was confined to a region between D1MIT415 and D1MIT7 on chromosome 1, where notable Pax3 gene was located. Direct sequencing revealed that Sp(xG) carried a nucleotide A894G missense transition in exon 6 of Pax3 gene that resulted in Asn to Asp substitution at amino acid 269 within the highly-conserved homeodomain (HD) DNA recognition module, which was the first point mutation found in this domain in mice. This N269D mutation impaired the transactivation ...

2011-07-19

69

A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (A{sup y}) mutation  

Energy Technology Data Exchange (ETDEWEB)

Lethal yellow (A{sup y}) is a mutation at the mouse agouti locus in chromosome 2 that causes a number of dominant pleiotropic effects, including a completely yellow coat color, obesity, an insulin-resistant type II diabetic condition, and an increased propensity to develop a variety of spontaneous and induced tumors. Additionally, homozygosity for A{sup y} results in preimplantation lethality, which terminates development by the blastocyst stage. The A{sup y} mutation is the result of a 170-kb deletion that removes all but the promoter and noncoding first exon of another gene called Raly, which lies in the same transcriptional orientation as agouti and maps 280 kb proximal to the 3{prime} end of the agouti gene. The authors present a model for the structure of the A{sub y} allele that can explain the dominant pleiotropic effects associated with this mutation, as well as the recessive lethality, which is unrelated to the agouti gene.

1994-03-29

70

An ELISA-based high throughput protein truncation test for inherited breast cancer  

Science.gov (United States)

IntroductionBreast cancer is the most diagnosed and second leading cause of cancer deaths in the U.S. female population. An estimated 5 to 10 percent of all breast cancers are inherited, caused by mutations in the breast cancer susceptibility genes (BRCA1/2). As many as 90% of all mutations are nonsense mutations, causing a truncated polypeptide product. A popular and low cost method of mutation detection has been the protein truncation test (PTT), where target regions of BRCA1/2 are PCR amplified, transcribed/translated in a cell-free protein synthesis system and analyzed for truncated polypeptides by sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) and autoradiography. We previously reported a novel High Throughput Solid-Phase PTT (HTS-PTT) based on an enzyme-linked immunosorbent assay (ELISA) format that eliminates the need for radioactivity, SDS-PAGE and subjective interpretation of the results. Here, we report the next generation HTS-PTT using ...

2010-10-04

71

Repair of failed 138kV pipe type cable line  

Energy Technology Data Exchange (ETDEWEB)

On February 9, 1995 ComEd experienced a pipe type cable failure on 138kV line 13717. Line 1737 is a bulk power transmission cable circuit connecting The Fisk and Crawford generating stations located within city limits. The line is approximately 4.5 miles long and was originally installed in 1975. This line is forced cooled, has 2,500 KCMIL copper conductors with 505 mils of paper insulation in an 8 inch pritec coated steel pipe. The splices are constructed with Voltalit castings. The failure occurred approximately 3,500 feet from Crawford Station. It was easy to locate the failure since the cable joint casing was breached resulting in the loss of approximately 2,600--2,700 gallons of dielectric fluid. Upon field examination B Phase was determined to have failed. The failure occurred 12 inches inside the casing in an area where it was impossible to install a long connector or add an additional short length of cable to create a piece out. The cause of the failure is ...

1996-11-01

72

Non-Destructive Testing of Bus-Bar Joints Powering LHC Superconducting Magnets, by Using Gamma Sources  

CERN Document Server

The main LHC superconducting magnets (dipoles and quadrupoles) use Rutherford type cables, stabilized electrically and thermally with copper profiles. The portions of cables are connected to each other by a soft soldering technique (Sn96Ag4) with an overlapping length corresponding to one pitch of the superconducting strands. The splice constitutes a "composite" structure with the interchanging layers of Sn96Ag4 and NbTi superconductor, located inside a Cu cage. In order to ensure a high level of reliability (failure probability not exceeding 10-8) for some 10000 connections in the LHC, a non-destructive technique to check the quantity of solder in the joint is foreseen. The technique is based on a gamma ray source (241Am) and the detection is position-sensitive in the transmission mode. Scintillating detectors of gamma rays are used and their accumulated length corresponds to the length of the radioactive source (120 mm). The method can be used in-situ, the ...

2004-01-01

73

Laboratory development of +- 600 kVdc pipe type cable systems  

Energy Technology Data Exchange (ETDEWEB)

In 1976, the US Department of Energy and New York State - ERDA granted a contract for the development of a +-600 kV dc underground transmission cable system looking to inevitable future requirements in the US for economic, high-capacity, long-distance underground transmission linking remote generating stations to metropolitan load centers. This project was comprehensive and dealt with three separate system components, i.e., cable, splice, and terminals. In each instance, for each component, development required an intensive R and D effort, focused on the following categories: insulating materials, model testing, design of full-scale prototype, manufacturer of prototype, and laboratory development testing. Insulating papers and oils were selected, and model studies performed, for both self-contained type and pipe type oil-filled cables. However, only the pipe cable design was finally designated for full-size cable manufacture and EHV laboratory testing. Each of the ...

1982-07-01

74

Heat shock factor binds to heat shock elements upstream of heat shock protein 70a and Samui genes to confer transcriptional activity in Bombyx mori diapause eggs exposed to 5^oC  

British Library Electronic Table of Contents (United Kingdom)

To understand the molecular mechanisms of how 5^oC-incubation activates mRNA expression of Hsp70a and Samui genes in Bombyx mori diapause eggs, we first searched the 5'-upstream regions of the Hsp70a and Samui genes for heat shock elements (HSEs) and found two regions [Hsp70aHSE-1 (-95 to -58) and -2 (-145 to -121), and SamuiHSE-1 (-84 to -55) and -2 (-304 to -290)] corresponding to HSEs (repeats of nGAAn and/or nTTCn). We cloned four cDNAs encoding heat shock factor (HSF)-a2 (627 amino acids), -b (685 aa), -c (682 aa) and -d (705 aa), which were produced by alternative splicing. When we exposed diapause eggs to 5^oC beginning at 2 day post-oviposition to break diapause, HSFd mRNA only increased after chilling for 6-8 days, a pattern very similar to those of Hsp70a and Samui mRNAs. To exam...

2011-01-01

75

Free and forced convective cooling of pipe-type electric cables. Volume 2: electrohycrodynamic pumping. Final report  

Energy Technology Data Exchange (ETDEWEB)

A multi-faceted research program has been performed to investigate in detail several aspects of free and forced convective cooling of underground electric cable systems. There were two main areas of investigation. The first one, reported in Volume 1, dealt with the fluid dynamic and thermal aspects of various components of the cable system. In particular, friction factors for laminar flow in the cable pipes with various configurations were determined using a finite element technique; the temperature distributions and heat transfer in splices were examined using a combined analytical numerical technique; the pressure drop and heat transfer characteristics of cable pipes in the transitional and turbulent flow regime were determined experimentally in a model study; and full-scale model experimental work was carried out to determine the fluid dynamic and thermal characteristics of entrance and exit chambers for the cooling oil. The second major area of activity, ...

1981-05-01

76

Free and forced convective cooling of pipe-type electric cables. Volume 1: forced cooling of cables. Final report  

Energy Technology Data Exchange (ETDEWEB)

A multi-faceted research program has been performed to investigate in detail several aspects of free and forced convective cooling of underground electric cable systems. There were two main areas of investigation. The first one reported in this volume dealt with the fluid dynamic and thermal aspects of various components of the cable system. In particular, friction factors for laminar flow in the cable pipes with various configurations were determined using a finite element technique; the temperature distributions and heat transfer in splices were examined using a combined analytical numerical technique; the pressure drop and heat transfer characteristics of cable pipes in the transitional and turbulent flow regime were determined experimentally in a model study; and full-scale model experimental work was carried out to determine the fluid dynamic and thermal characteristics of entrance and exit chambers for the cooling oil. The second major area of activity, ...

1981-05-01

77

Dynamic Rating and Underground Monitoring System (DRUMS)  

Energy Technology Data Exchange (ETDEWEB)

Drums is an acronym for Dynamic Rating and Underground Monitoring System, with specific application to high-pressure pipe-type cable systems which are the predominant means of underground electric power transmission in the United States. The primary objective of this EPRI-sponsored feasibility study was to establish the technical feasibility of seven DRUMS functions and two novel DRUMS communication schemes. The seven DRUMS functions which monitor the system's vital and measurable parameters in real time and perform system diagnostics in the event of component deterioration, malfunction or failure are: Real Time Current Monitoring and Rating; Leak Detection and Location; Fault Location; Pothead Monitoring; Oil Monitoring; Pipe Protection; and Splice Monitoring. The two DRUMS communication schemes are internal to the pipe cable system. Mechanical Communication will use pressure pulses to transmit data along the system, while the Electrical Communication ...

1991-07-01

78

Detection of Second-Layer Corrosion in Aging Aircraft  

International Nuclear Information System (INIS)

The Compton backscatter technique has been applied to lap-joint in aircraft structure in order to determine mass loss due to exfoliative corrosion of the aluminum alloy sheet skin. The mass loss of each layer has been estimated from Compton backscatter A-scan including the aluminum sheet, the corrosion layer, and the sealant. A Compton backscattering imaging system has been also developed to obtain a cross-sectional profile of corroded lap-splices of aging aircraft using a specially designed slit-type camera. The camera is to focus on a small scattering volume inside the material from which the backscattered photons are collected by a collimated scintillator detector for interpretation of material characteristics. The cross section of the layered structure is scanned by moving the scattering volume through the thickness direction of the specimen. The theoretical model of the Compton scattering based on Boltzmann transport theory is presented for quantitative ...

2009-12-01

79

The retinoic acid receptor beta (Rarb) region of Mmu14 is associated with prion disease incubation time in mouse.  

Science.gov (United States)

In neurodegenerative conditions such as Alzheimer's and prion disease it has been shown that host genetic background can have a significant effect on susceptibility. Indeed, human genome-wide association studies (GWAS) have implicated several candidate genes. Understanding such genetic susceptibility is relevant to risks of developing variant CJD (vCJD) in populations exposed to bovine spongiform encephalopathy (BSE) and understanding mechanisms of neurodegeneration. In mice, aspects of prion disease susceptibility can be modelled by examining the incubation period following experimental inoculation. Quantitative trait linkage studies have already identified multiple candidate genes; however, it is also possible to take an individual candidate gene approach. Rarb and Stmn2 were selected as candidates based on the known association with vCJD. Because of the increasing overlap described between prion and Alzheimer's diseases we also chose Clu, Picalm and Cr1, which were identified as ...

2010-12-06

80

Survey and analysis of simple sequence repeats in the Laccaria bicolor genome, with development of microsatellite markers  

Energy Technology Data Exchange (ETDEWEB)

It is becoming clear that simple sequence repeats (SSRs) play a significant role in fungal genome organization, and they are a large source of genetic markers for population genetics and meiotic maps. We identified SSRs in the Laccaria bicolor genome by in silico survey and analyzed their distribution in the different genomic regions. We also compared the abundance and distribution of SSRs in L. bicolor with those of the following fungal genomes: Phanerochaete chrysosporium, Coprinopsis cinerea, Ustilago maydis, Cryptococcus neoformans, Aspergillus nidulans, Magnaporthe grisea, Neurospora crassa and Saccharomyces cerevisiae. Using the MISA computer program, we detected 277,062 SSRs in the L. bicolor genome representing 8% of the assembled genomic sequence. Among the analyzed basidiomycetes, L. bicolor exhibited the highest SSR density although no correlation between relative abundance and the genome sizes was observed. In most genomes the short motifs (mono- to trinucleotides) were ...

2011-01-01

 
 
 
 
81

Use of polymer conductors for welding thermoplastic materials  

International Nuclear Information System (INIS)

Although some polymer conductors of electricity (ex. Polyanilines) are materials known for more than 100 years, only recently have the interesting chemical, electrical and optic properties of their insulating and conducting forms been recognized. Advances made in the chemistry of polymer conductors have also led to improvements in processing them. This work studies a practical application of these materials: the use of polymer conductors for the remote welding of insulating thermoplastic polymers, using energy from microwaves for the local heating of the union. Many thermoplastics (for ex. Polyethylene) do not absorb, or absorb very little, energy from microwaves. Different conductor materials (conductor polymers, carbon nanotubes), however, heavily absorb energy from microwaves with the resulting heating. In this way the welding zone can be heated without affecting the rest of the piece. Conductor polymers (polyanilines) were synthesized chemically and they were characterized by ...

2004-11-01

82

Molecular evolution and characterization of fungal indoleamine 2,3-dioxygenases.  

Science.gov (United States)

Indoleamine 2,3-dioxygenase (IDO) and tryptophan 2,3-dioxygenase (TDO) are tryptophan-degrading enzymes. Mammalian IDO expression is induced by cytokines and has antimicrobial and immunomodulatory effects. A major role of mammalian TDO is to supply nicotinamide adenine dinucleotide (NAD(+)). In fungi, the IDO homologue is thought to be expressed constitutively and supply NAD(+), as TDO is absent from their genomes. Here, we reveal the distribution of IDO genes among fungal species and characterize their enzymatic activity. The yeast, Saccharomyces cerevisiae has only one IDO gene, whereas the koji-mold, Aspergillus oryzae has two genes, IDO? and IDO?. The A. oryzae IDO? showed more similar enzymatic properties to those of S. cerevisiae IDO than IDO?, suggesting that the A. oryzae IDO? is a functional homologue of the S. cerevisiae IDO. From the IDO? gene, two isoforms, IDO? and IDO?(+) could be generated by alternative splicing. The latter contained a 17 amino ...

2010-12-18

83

Expression and function of fibroblast growth factor (FGF) 9 in hepatic stellate cells and its role in toxic liver injury  

International Nuclear Information System (INIS)

Hepatic injury and regeneration of the liver are associated with activation of hepatic stellate cells (HSC). Fibroblast growth factors (FGFs) and their receptors are important regulators of repair in various tissues. HSC express FGFR3IIIc as well as FGFGR4 and different spliced FGFR1IIIc and FGFR2IIIc isoforms which differ in the presence or absence of the acid box and of the first Ig-like domain. Expression of FGF9, known to be capable to activate the HSC FGFR2/3-isoforms, was increased in HSC in liver slice cultures after exposition to carbon tetrachloride, as an acute liver injury model. FGF9 significantly stimulated 3-H thymidine incorporation of hepatocytes, but failed to induce DNA synthesis in HSC despite the fact that FGF9 induced a sustained activation of extracellular signal-related kinases (ERK) 1/2. FGF9 induced an increased phosphorylation of Tyr436 of the fibroblast growth factor receptor substrate (FRS) 2, while phosphorylation of Tyr196 which is ...

2007-09-21

84

An ultraviolet-inducible adenosine-adenosine cross-link reflects the catalytic structure of the Tetrahymena ribozyme  

Energy Technology Data Exchange (ETDEWEB)

When a shortened enzymatic version of the Tetrahymena self-splicing intervening sequence (IVS) RNA is placed under catalytic conditions and irradiated at 254 nm, a covalent cross-link forms with high efficiency. The position of the cross-link was mapped by using three independent methods: RNase H digestion, primer extension with reverse transcriptase, and partial hydrolysis of end-labeled RNA. The cross-link is chemically unusual in that it joins two adenosines, A57 and A95. Formation of this cross-link depends upon the identity and concentration of divalent cations present and upon heat-cool renaturation of the IVS in a manner that parallels conditions required for optimal catalytic activity. Furthermore, cross-linking requires the presence of sequences within the core structure, which is conserved among group I intervening sequences and necessary for catalytic activity. Together these correlations suggest that a common folded structure permits cross-linking and ...

1990-06-12

85

Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene  

DEFF Research Database (Denmark)

Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an X-linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date, 20 distinct mutations have been reported, but little phenotypic data are available on patients with molecularly confirmed AAS. In the present study, we report on our experience of screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS. We identified nine novel mutations in 11 patients (detection rate of 18.33%), including three missense mutations (p.R402Q; p.S558W; p.K748E), four truncating mutations (p.Y530X; p.R656X; c.806delC; c.1620delC), one in-frame deletion (c.2020_2022delGAG) and the first reported splice site mutation (c.1935+3A>C). A recurrent mutation (p.R656X) was detected in three independent families. ...

2010-01-01