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排序方式: 共有117条查询结果,搜索用时 633 毫秒
1.
Joan E. Kuster Mary H. Guarnieri Jeffrey G. Ault Lorraine Flaherty Pamela J. Swiatek 《Mammalian genome》1997,8(9):673-681
The laminin-5 molecule functions in the attachment of various epithelia to basement membranes. Mutations in the laminin-5-coding
genes have been associated with Herlitz junctional epidermolysis bullosa (HJEB), a severe and often lethal blistering disease
of humans. Here we report the characterization of a spontaneous mouse mutant with an autosomal recessive blistering disease.
These mice exhibit sub-epithelial blisters of the skin and mucosal surfaces and abnormal hemidesmosomes lacking sub-basal
dense plates. By linkage analysis the genetic defect was localized to a 2-cM region on distal Chromosome (Chr) 1 where a laminin-5
subunit gene, LamB3, was previously localized. LamB3 mRNA and laminin-5 protein were undetectable by Northern blot analysis and immunohistochemical methods, respectively. DNA
sequence analysis indicated that the LamB3 genetic defect resulted from disruption of the coding sequence by insertion of an intracisternal-A particle (IAP) at an exon/intron
junction. These findings suggest a role for laminin-5 in hemidesmosome formation and indicate that the LamB3
IAP
mutant is a useful mouse model for HJEB.
Received: 27 March 1997 / Accepted: 14 May 1997 相似文献
2.
Generation of long-term human cytolytic cell lines with persistent natural killer activity 总被引:1,自引:0,他引:1
A M Krensky K A Ault C S Reiss J L Strominger S J Burakoff 《Journal of immunology (Baltimore, Md. : 1950)》1982,129(4):1748-1751
Human cell lines maintained by in vitro stimulation with the HLA-A, B-negative, DR-positive, Epstein Barr virus-transformed, lymphoblastoid cell line Daudi in the presence of conditioned medium demonstrated significant NK activity for over 6 wk in continuous culture. These cells lyse K562 and a broad panel of lymphoblastoid cell lines but do not lyse normal peripheral blood lymphocytes or pokeweed mitogen blasts. They possess the sheep red blood cell receptor but lack other T cell markers (Lyt-3+, OKT3-). Natural killer activity correlated with the presence of a Mac 1-positive subpopulation of cells present in these long-term lines. 相似文献
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L A Holmberg T A Springer K A Ault 《Journal of immunology (Baltimore, Md. : 1950)》1981,127(5):1792-1799
Exudates induced by i.p. injection of five listeria monocytogenes (LM) constituted a rich source of CBA/J murine natural killer (NK) cells. Maximum expression of NK activity was seen from day 2 through day 6 after initial exposure to LM. When nylon wool nonadherent peritoneal exudate cells were examined by a single-cell cytotoxicity assay, the number of cells binding to YAC-1 target cells increased after infection as did their individual lytic capacity. A monoclonal rat anti-murine macrophage antibody (M1/70), previously shown by our group to recognize human NK cells, can also be used as a marker for murine NK cells. Utilizing M1/70 and the fluorescence-activated cell sorter, selection of M1/70-labeled mononuclear cells led to the enrichment of both NK and antibody-dependent cellular cytotoxicity. These M1/70-positive cells had a distinctive morphology and contained granules on Wright-Giemsa staining. They were not phagocytic, did not contain nonspecific esterase, and lacked surface I-Ak, IgM determinants, complement receptors, and high levels of Thy 1.2. 相似文献
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8.
The yeast histidine protein kinase, Sln1p, mediates phosphotransfer to two response regulators, Ssk1p and Skn7p. 总被引:1,自引:0,他引:1
S Li A Ault C L Malone D Raitt S Dean L H Johnston R J Deschenes J S Fassler 《The EMBO journal》1998,17(23):6952-6962
The Saccharomyces cerevisiae Sln1 protein is a ''two-component'' regulator involved in osmotolerance. Two-component regulators are a family of signal-transduction molecules with histidine kinase activity common in prokaryotes and recently identified in eukaryotes. Phosphorylation of Sln1p inhibits the HOG1 MAP kinase osmosensing pathway via a phosphorelay mechanism including Ypd1p and the response regulator, Ssk1p. SLN1 also activates an MCM1-dependent reporter gene, P-lacZ, but this function is independent of Ssk1p. We present genetic and biochemical evidence that Skn7p is the response regulator for this alternative Sln1p signaling pathway. Thus, the yeast Sln1 phosphorelay is actually more complex than appreciated previously; the Sln1 kinase and Ypd1 phosphorelay intermediate regulate the activity of two distinct response regulators, Ssk1p and Skn7p. The established role of Skn7p in oxidative stress is independent of the conserved receiver domain aspartate, D427. In contrast, we show that Sln1p activation of Skn7p requires phosphorylation of D427. The expression of TRX2, previously shown to exhibit Skn7p-dependent oxidative-stress activation, is also regulated by the SLN1 phosphorelay functions of Skn7p. The identification of genes responsive to both classes of Skn7p function suggests a central role for Skn7p and the SLN1-SKN7 pathway in integrating and coordinating cellular response to various types of environmental stress. 相似文献
9.
Ponnada Suresh Kumar KK Pulicherla Mrinmoy Ghosh Anmol Kumar KRS Sambasiva Rao 《Bioinformation》2011,6(8):311-314
Enzymes from psychrophiles catalyze the reactions at low temperatures with higher specific activity. Among all the psychrophilic enzymes produced, cold active
β-galactosidase from marine psychrophiles revalorizes a new arena in numerous areas at industrial level. The hydrolysis of lactose in to glucose and galactose by
cold active β-galactosidase offers a new promising approach in removal of lactose from milk to overcome the problem of lactose intolerance. Herein we propose, a
3D structure of cold active β-galactosidase enzyme sourced from Pseudoalteromonas haloplanktis by using Modeler 9v8 and best model was developed having
88% of favourable region in ramachandran plot. Modelling was followed by docking studies with the help of Auto dock 4.0 against the three substrates lactose,
ONPG and PNPG. In addition, comparative docking studies were also performed for the 3D model of psychrophilic β-galactosidase with mesophilic and
thermophilic enzymes. Docking studies revealed that binding affinity of enzyme towards the three different substrates is more for psychrophilic enzyme when
compared with mesophilic and thermophilic enzymes. It indicates that the enzyme has high specific activity at low temperature when compared with mesophilic
and thermophilic enzymes. 相似文献
10.
Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span
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Hickey AJ Chotkowski HL Singh N Ault JG Korey CA MacDonald ME Glaser RL 《Genetics》2006,172(4):2379-2390
Human neuronal ceroid lipofuscinoses (NCLs) are a group of genetic neurodegenerative diseases characterized by progressive death of neurons in the central nervous system (CNS) and accumulation of abnormal lysosomal storage material. Infantile NCL (INCL), the most severe form of NCL, is caused by mutations in the Ppt1 gene, which encodes the lysosomal enzyme palmitoyl-protein thioesterase 1 (Ppt1). We generated mutations in the Ppt1 ortholog of Drosophila melanogaster to characterize phenotypes caused by Ppt1 deficiency in flies. Ppt1-deficient flies accumulate abnormal autofluorescent storage material predominantly in the adult CNS and have a life span 30% shorter than wild type, phenotypes that generally recapitulate disease-associated phenotypes common to all forms of NCL. In contrast, some phenotypes of Ppt1-deficient flies differed from those observed in human INCL. Storage material in flies appeared as highly laminar spherical deposits in cells of the brain and as curvilinear profiles in cells of the thoracic ganglion. This contrasts with the granular deposits characteristic of human INCL. In addition, the reduced life span of Ppt1-deficient flies is not caused by progressive death of CNS neurons. No changes in brain morphology or increases in apoptotic cell death of CNS neurons were detected in Ppt1-deficient flies, even at advanced ages. Thus, Ppt1-deficient flies accumulate abnormal storage material and have a shortened life span without evidence of concomitant neurodegeneration. 相似文献