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A presenilin dimer at the core of the gamma-secretase enzyme: insights from parallel analysis of Notch 1 and APP proteolysis.

Notch receptors and the amyloid precursor protein are type I membrane proteins that are proteolytically cleaved within their transmembrane domains by a presenilin (PS)-dependent gamma-secretase activity. In both proteins, two peptide bonds are hydrolyzed: one near the inner leaflet and the other in the middle of the transmembrane domain. Under saturating conditions the substrates compete with each other for proteolysis, but not for binding to PS. At least some Alzheimer's disease-causing PS mutations reside in proteins possessing low catalytic activity. We demonstrate (i) that differentially tagged PS molecules coimmunoprecipitate, and (ii) that PS N-terminal fragment dimers exist by using a photoaffinity probe based on a transition state analog gamma-secretase inhibitor. We propose that gamma-secretase contains a PS dimer in its catalytic core, that binding of substrate is at a site separate from the active site, and that substrate is cleaved at the interface of two PS molecules.

Amyloid Precursor Protein Secretases↗

Cell-autonomous role of Notch, an epidermal growth factor homologue, in sensory organ differentiation in Drosophila.

The gene Notch (N) codes for a transmembrane protein with an extracellular domain that has homologies to epidermal growth factors and an intracellular domain that could be involved in signal transduction. N null alleles cause the transformation of most epidermal cells into neuroblasts in central and peripheral nervous systems. Alleles of the same gene, called Abruptex (Ax), that map to the extracellular domain of N protein cause the absence of adult sensory organs. Both types of alleles show cell autonomy in mosaic analysis carried out in the last stages of the formation of adult sensory organs. The phenotypes are different: cells lacking N gene products differentiate as sensory organ mother cells early and as its neural sublineage later, whereas in the homozygous Ax condition epidermal cells do not enter the sensory organ mother cell pathway. The results indicate that N gene products act internally in the cell, probably as receptors of intercellular signals both in sensory organ mother cell singularization and in fate specification of its daughter cells. Ax mutations behave as an excess of N+ function in this signal transduction process. N proteins modified by these mutations act as constitutively activated.

Animals↗

Pro-tumor necrosis factor-alpha processing activity is tightly controlled by a component that does not affect notch processing.

The extracellular domain of a heterogeneous group of transmembrane proteins can be proteolytically released from the cell surface, a process known as protein ectodomain shedding. Despite the biomedical importance of several substrates of the shedding system, such as the beta-amyloid precursor protein (betaAPP), little is known about the regulation of protein ectodomain shedding, and the only protease known to be involved is the metalloprotease disintegrin, tumor necrosis factor-alpha converting enzyme (TACE). Here, we show that previously described pro-transforming growth factor-alpha shedding-defective cell mutants (M2 cells), known to be defective in ectodomain shedding of several molecules, that include betaAPP, fail to shed the ectodomain of pro-TNF-alpha. The target of the mutation is a component required for TACE activity, since transfection of TACE into M2 cells has no effect on the shedding of pro-TNF-alpha and somatic cell fusions between M2 cells and TACE null cells recover the ability to shed pro-TNF-alpha, pro-transforming growth factor-alpha, and betaAPP. Furthermore, we show that TACE is also necessary for the shedding of betaAPP since TACE null cells show defective betaAPP shedding. Biochemical evidence shows that the component that controls TACE is different from protein kinase C, the only known activator of protein ectodomain shedding, and that this component does not affect biosynthesis or processing of TACE or other metalloprotease disintegrins. The component mutated in M2 cells is likely to control only a subset of metalloprotease disintegrins involved in regulated ectodomain shedding, since Notch processing, a process known to be dependent on the activity of another metalloprotease disintegrin, Kuzbanian, is normal in M2 cells.

ADAM Proteins↗

Activation of the rat renin promoter by HOXD10.PBX1b.PREP1, Ets-1, and the intracellular domain of notch.

Renin gene expression is subject to complex developmental and tissue-specific regulation. A comparison of the promoter sequences of the human, rat, and mouse renin genes has revealed a highly conserved sequence homologous to the DNA recognition sequence for CBF1 (CSL/RBP-Jkappa/Su(H)/LAG1/RBPSUH). Electrophoretic mobility shift assays document that As4.1 cell nuclear protein complex binding to the putative rat renin CBF1-binding site (-175 to -168 bp) contains CBF1. Transient transfection analyses in COS-7 cells further document that a CBF1-VP16 fusion protein and the intracellular domain of Notch1 robustly activate a promoter containing multiple copies of the rat renin CBF1-binding site. An Ets-binding site (-143 to -138 bp) has also been identified in the rat renin promoter by sequence comparisons and electrophoretic mobility shift assays. Transcription factor Ets-1 is capable of activating the rat renin promoter through the Ets-binding site. Mutation of the CBF-binding site significantly increases transcriptional activity of the rat renin promoter in Calu-6 and COS-7 cells but not in As4.1 cells, whereas mutation of the Ets-binding site reduces promoter activity of the rat renin gene in all three cell lines. Finally, we show that the intracellular domain of Notch1, Ets-1, and HOXD10.PBX1b.PREP1 activate the rat renin promoter cooperatively in COS-7 cells. These results strongly suggest that the renin gene is a downstream target of the Notch signaling pathway.

Animals↗

The divergent DSL ligand Dll3 does not activate Notch signaling but cell autonomously attenuates signaling induced by other DSL ligands.

Mutations in the DSL (Delta, Serrate, Lag2) Notch (N) ligand Delta-like (Dll) 3 cause skeletal abnormalities in spondylocostal dysostosis, which is consistent with a critical role for N signaling during somitogenesis. Understanding how Dll3 functions is complicated by reports that DSL ligands both activate and inhibit N signaling. In contrast to other DSL ligands, we show that Dll3 does not activate N signaling in multiple assays. Consistent with these findings, Dll3 does not bind to cells expressing any of the four N receptors, and N1 does not bind Dll3-expressing cells. However, in a cell-autonomous manner, Dll3 suppressed N signaling, as was found for other DSL ligands. Therefore, Dll3 functions not as an activator as previously reported but rather as a dedicated inhibitor of N signaling. As an N antagonist, Dll3 promoted Xenopus laevis neurogenesis and inhibited glial differentiation of mouse neural progenitors. Finally, together with the modulator lunatic fringe, Dll3 altered N signaling levels that were induced by other DSL ligands.

Animals↗

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

Alagille syndrome (AGS) is caused by mutations in the gene for the Notch signaling pathway ligand Jagged1 (JAG1), which are found in 94% of patients. To identify the cause of disease in patients without JAG1 mutations, we screened 11 JAG1 mutation-negative probands with AGS for alterations in the gene for the Notch2 receptor (NOTCH2). We found NOTCH2 mutations segregating in two families and identified five affected individuals. Renal manifestations, a minor feature in AGS, were present in all the affected individuals. This demonstrates that AGS is a heterogeneous disorder and implicates NOTCH2 mutations in human disease.

Alagille Syndrome↗

A tripartite interaction among alleles of Notch, Delta, and Enhancer of split during imaginal development of Drosophila melanogaster.

A dramatic example of a phenotypic interaction that involves neurogenic loci during Drosophila imaginal development is the synergistic impact of split (spl), a recessive allele of the Notch locus, and E(spl)D, a dominant gain-of-function allele of the Enhancer of split locus, on morphogenesis of the compound eye. Screens for mutations that relieve the enhancing effect of E(spl)D on spl have yielded three classes of mutations: intragenic revertants of the E(spl)D allele, extragenic suppressors that are allelic to the neurogenic gene Delta (Dl) and unlinked extragenic modifiers. Analysis of the suppression of the spl-E(spl)D interaction by various Dl alleles indicates that this modification is sensitive to the dosage of the Dl locus. This tripartite interaction illustrates the combinatorial action of N, Dl and E(spl) during imaginal development.

Alleles↗

Caspase-mediated cleavage is not required for the activity of presenilins in amyloidogenesis and NOTCH signaling.

The Alzheimer's disease (AD) associated presenilin (PS) proteins are proteolytically processed. One of the processing pathways involves cleavage by caspases. Pharmacological inhibition of caspases is currently being discussed as a treatment for a variety of neurodegenerative diseases, including AD. We therefore inhibited caspase mediated processing of PS-1 and PS-2 in cells transfected with wt and mutant PS by mutagenizing the substrate recognition site or by using specific peptide aldehydes known to block caspases. We found that the inhibition of caspase mediated processing of PS proteins does not decrease its amyloidogenic activity. PS cDNA constructs with mutations in the caspase cleavage site are biologically active in Caenorhabditis elegans such as the wt human PS proteins, demonstrating that caspase-mediated cleavage is not required for the physiological PS function in NOTCH signaling.

Alzheimer Disease↗

Serous retinal pigment epithelial detachment with a notch. A sign of occult choroidal neovascularization.

One or more signs of occult neovascularization usually accompany large serous detachments of the retinal pigment epithelium occurring in patients older than 50 years of age. Evidence is presented that a flattened or notched border of these detachments is a frequently encountered and an important biomicroscopic and fluorescein angiographic sign of hidden choroidal neovascular complex, most of which lies outside the area of the serous detachment of the pigment epithelium. A clinical trial is required to determine the reliability of the various signs of occult neovascularization and the effectiveness of laser photocoagulation in these patients.

Aged↗

Morphometry of the supra sciatic notch intrailiac implant anchor passage.

STUDY DESIGN: Anatomic study of human ilia. OBJECTIVE: To determine the anatomic dimensions influencing intrailiac anchor placement and design. SUMMARY OF BACKGROUND DATA: The development of the Galveston intrailiac implant anchor markedly improved results of spinal instrumentation to the pelvis. Better quantification of the passage dimensions is needed for the design of anatomically specific implants. METHODS: The length and outer diameter of two intrailiac anchor passages were determined from randomly selected, disease-free pairs of ilia from 129 white skeletons belonging to the Hamann-Todd Osteological Collection (Cleveland, OH, Museum of Natural History). RESULTS: Path B, an anchor passage running from the posterior superior iliac spine to the anterior inferior iliac spine, was significantly longer than path A, proceeding from the posterior superior iliac spine to the superior rim of the acetabulum, in adult and teenage males and females. For example, in adult females path B measured 141.2 +/- 7.5 mm versus 124.9 +/- 7.1 mm, P = or < 0.0001. The absolute minimum path A length available for an intrailiac post or screw anchor, following the required posterior superior iliac spine removal, was 80 mm in adults and male teenagers and 70 mm in female teenagers. For path B the hip joint was not at risk, and a safe anchor passage of at least 90 mm in teenagers and 110 mm in adults was available. The minimum thickness of the paths occurred directly above the sciatic notch. It was significantly larger in path A than path B, 20.2 +/- 2.4 mm versus 14.4 +/- 3.2 mm, P < 0.0001. CONCLUSION: Of the two supra sciatic intrailiac paths studied, the path passing from the posterior superior iliac spine toward the anterior inferior iliac spine provided a longer and potentially safer anchor site. These studies suggest techniques for accessing longer anchor paths and the need for larger diameter anchors in order to achieve optimum intra iliac anchor stiffness and strength.

Adolescent↗

Effective treatment of fracture-dislocations of the olecranon requires a stable trochlear notch.

Our goal with this study was to better define and characterize fracture-dislocations of the olecranon and to provide additional data regarding complications and elbow function after operative treatment. Twenty-six patients with fracture-dislocations of the elbow were reviewed retrospectively. Ten had anterior and 16 had posterior fracture-dislocations. Five of 10 patients with anterior injuries and all of the patients with posterior injuries had an associated fracture of the coronoid process of the ulna. One of 10 patients with anterior and 13 of 16 patients with posterior injuries had fracture of the radial head. Only one patient had a true dislocation of the ulnohumeral joint. In the other 25 patients the articular surfaces remained apposed. All 26 patients were treated operatively and followed up for at least 3 years (average, 6 years). The results were good or excellent in 21 of 26 patients according to the system of Broberg and Morrey. The five unsatisfactory results were related to inadequate fixation of the coronoid with subsequent arthrosis (three patients), proximal radioulnar synostosis (three patients), and a subsequent fracture of the distal humerus (one patient). Fracture-dislocations of the olecranon occur in anterior and posterior patterns with specific injury characteristics and pitfalls. The key to effective treatment is stable restoration of the trochlear notch.

Adult↗

The dependence of the auditory evoked N1m decrement on the bandwidth of preceding notch-filtered noise.

The auditory evoked response is known to be changed by a preceding sound. In this study we investigated by means of magnetoencephalography how a preceding notch-filtered noise (NFN) with different bandwidths influences the human auditory evoked response elicited by the following test stimulus. We prepared white noise (WN) and four NFNs which were derived from WN by suppressing frequency regions around 1 kHz with 1/8-, 1/4-, 1/2- and 1-octave bandwidths. Stimulation for 3 s with this set of noises resulted in differences in responsiveness to a 1-kHz test tone presented 500 ms after the offset of the noises. The N1m response to the 1-kHz test tone stimulus was at a minimum when the preceding NFN had 1/4-octave stop-band frequencies as compared with 1/8-, 1/2- and 1-octave NFN and WN. This N1m decrement is explained by the imbalanced neural activities caused by habituation and lateral inhibition in the auditory system. The results contribute to understanding of the inhibitory system in the human auditory cortex.

Acoustic Stimulation↗

Low dose acetylsalicylic acid in prevention of pregnancy-induced hypertension and intrauterine growth retardation in women with bilateral uterine artery notches.

OBJECTIVE: To evaluate the efficacy of low-dose acetylsalicylic acid in the prevention of pregnancy-induced hypertension and intrauterine growth retardation in high-risk pregnancies as determined by transvaginal Doppler ultrasound study of the uterine arteries at 12 to 14 weeks of gestation. DESIGN: Randomised, double blind and placebo-controlled trial. SETTING: The Department of Obstetrics and Gynaecology, Tampere University Hospital, Finland. POPULATION: One hundred and twenty pregnant women considered to be at high risk of pre-eclampsia or intrauterine growth retardation were screened by transvaginal Doppler ultrasound at 12 to 14 weeks of gestation. METHODS: Ninety pregnant women with bilateral notches in the uterine arteries were randomised to receive acetylsalicyclic acid 0.5mg/kg/day (n = 45) or placebo (n = 45) from 12 to 14 weeks of gestation. MAIN OUTCOME MEASURES: Hypertensive disorders of pregnancy and intrauterine growth retardation. RESULTS: Forty-three women on acetylsalicyclic acid and 43 on placebo were successfully followed up. The use of acetylsalicyclic acid was associated with a statistically significant reduction in the incidence of pregnancy-induced hypertension (11.6% vs 37.2%, RR = 0.31, 95% CI 0.13-0.78) and pre-eclampsia (4.7% vs 23.3%, RR = 0.2, 95% Cl 0.05-0.86). The incidence of hypertension before 37 weeks of pregnancy was also significantly reduced (2.3% vs 20.9%, RR = 0.22, 95% CI 0.05-0.97). The reduction in the incidence of intrauterine growth retardation (2.3% vs 7%) was not statistically significant. Acetylsalicyclic acid was not associated with excess risk of maternal or fetal bleeding. CONCLUSION: In women rated in Doppler velocimetry waveform analysis to be at high risk of pre-eclampsia, low-dose acetylsalicyclic acid reduces the incidence of pregnancy-induced hypertension and especially proteinuric pre-eclampsia.

Adult↗

Mapping spatio-temporal activation of Notch signaling during neurogenesis and gliogenesis in the developing mouse brain.

Notch1 plays various important roles including the maintenance of the stem cell state as well as the promotion of glial fates in mammalian CNS development. However, because of the very low amount of the activated form of Notch1 present in vivo, its precise activation pattern has remained unknown. In this study, we mapped the active state of this signaling pathway in situ in the developing mouse brain using a specific antibody that recognizes the processed form of the intracellular domain of Notch1 cleaved by presenilin/gamma-secretase activity. By using this antibody, active state of Notch1 came to be detectable with a higher sensitivity than using conventional antibody against Notch1. We found that activated Notch1 was mainly detected in the nuclei of a subpopulation of radial glial cells, the majority of proliferating precursor cells in the ventricular zone (VZ). However, Notch1 activation was not detected in neuronal precursor cells positive for neuronal basic helix-loop-helix proteins or in differentiating neurons in the embryonic forebrain. Interestingly, we found that Notch1 was transiently activated in the astrocytic lineage during perinatal CNS development. Taken together, the present method has enabled us to determine the timing, gradients, and boundaries of the activation of Notch signaling.

Animals↗

Notch in contrast sensitivity function of optical origin: diffraction effects of acrylic filters.

A series of retinal image degrading filters was evaluated by measuring the contrast sensitivity function of four human subjects through the filters (residual CSF). The acrylic filters, with regularly spaced cross-hatches, produced progressively more reduction in the residual CSF as the density of the cross hatching increased. For some of the filters there was a selective loss of a narrow band of spatial frequencies as a result of diffraction effects. This experiment serves to further emphasize the need to rule out optical causes of such notches in the CSF before making a diagnosis of neurological dysfunction.

Acrylic Resins↗

Dynamic fatigue resistance of implant-abutment junction in an internally notched morse-taper oral implant: influence of abutment design.

PURPOSE: To compare dynamic fatigue resistance of one- and two-piece abutments connected to internally notched morse-taper oral implants. MATERIAL AND METHODS: Sixteen synOcta ITI implants were tightened into two metal models. SynOcta abutments for cement-retained restorations and solid abutments were divided into two equal groups and were torque-tightened into the implants. Each implant received a cement-retained crown. Cyclic dynamic axial and lateral peak loads of 75+/-5 N were applied on the implants for a duty of 500,000 cycles at 0.5 Hz, and at an angle of 20 degrees. Prior to the experiments and at each 100,000 cycles of loading, periotest values (PTVs) were measured. Removal torque values (RTVs) of the abutments were also measured with a custom-made torque device at the termination of the experiment. RESULTS: All abutments and implants were clinically immobile and without any signs of mechanical failure. The final PTVs for both abutments were similar and the difference between groups was insignificant (P>0.05). The RTVs of solid abutments were significantly higher than synOcta abutments (P<0.05). CONCLUSION: Predictable long-term clinical results can be achieved with solid abutments and synOcta abutments for cement-retained restorations. Solid abutments possess higher removal torque resistance than synOcta abutments when connected to synOcta ITI implants.

Cementation↗