Hereditary retinoblastoma: can balanced insertion entirely explain the differences of expressivity among families?

Summary Although the retinoblastoma gene has been isolated and sequenced, the difference in penetrance and expressivity among families has not yet been fully explained. Balanced chromosomal insertion involving the 13q14 regions has been shown to account for some families with several unaffected carriers. Since there could be cases with karyotypically undetectable insertions, we tested whether this mechanism was general enough to explain the whole difference in expressivity among families. Using 166 pedigrees, reported in nine series available in the literature (including our own), we conclude that balanced insertion cannot entirely explain the familial data, even if we allow for a reduced viability of unbalanced gametes. Other mechanisms are proposed and discussed in this paper.     

Multiple molecular forms of rat superior cervical ganglion acetylcholinesterase: Developmental aspects in primary cell culture and during postnatal maturation in vivo

Four main molecular forms of acetylcholinesterase (AChE) can be solubilized from newborn rat superior cervical ganglia (SCG), homogenized in the presence of a high-ionic-strength, detergent-containing medium. These forms, respectively referred to as 16, 10, 6.5, and 4 S, are characterized by their sedimentation coefficients. Their relative proportions in SCG are notably different in vivo during postnatal maturation, and in culture. The 16-S AChE appears to be mainly neuronal in origin, is maintained in culture independently of original presynaptic in vivo elements, and its cellular pool is not depleted in the presence of tetrodotoxin (TTX).     

Thermopreferendum de l'Araignée socialeAgelena consociata Denis

Résumé Le présent article a pour but d'analyser les multiples facteurs pouvant perturber l'étude duthermopreferendum de l'Araignée socialeAgelena consociata Denis et d'exposer les résultats obtenus.Pour satisfaire lethigmotactisme très développé de ces Araignées, la boîte servant à cette étude est cloisonnée et sa hauteur est de 1 cm.Un abreuvoir placé dans chaque compartiment maintient une humidité saturante pour compenser le gradient hygrométrique résultant du gradient thermique.L'expérience doit durer plusieurs jours et ne commencer que 24 heures après l'introduction des Araignées: premièrement, parce que cela permet aux Araignées de recouvrir le fond de la boîte d'une nappe de soie, ce qui contribue à les rapprocher de leurs conditions naturelles; deuxièmement, parce que la phase d'activité de ces Araignées est nocturne. Or, il semble que c'est lors de cette phase que les animaux choisissent leurthermopreferendum.Il ne faut pas effectuer plus de trois relevés par jour, sans quoi les Araignées, très sensibles aux perturbations, ont tendance à se diriger vers l'extrémité froide.Lethermopreferendum desAgelena consociata se situe à 22°65±0,10 pour la température de l'air et à 22°89±0,12 par rapport à la température du sol.

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Summary This article aims at analysing the various causes which can disturb the study of thethermopreferendum of social SpidersAgelena consociata Denis and aims at explaining the achieved results.In order to satisfy the extremely developedthigmotactisme of these Spiders, the box used for that study has been partitioned off; its height is 1 cm.A small piece of wet cotton-wool placed into each partition maintains a saturated humidity to compensate the hygrometric gradient resulting from the thermic gradient.The experiment must go on during several days and must only begin a day after having put the Spiders into the box: first because the Spiders can cover the bottom with a cobweb, which contributes to create almost natural conditions; secondly because the period of activity of these Spiders takes place at night. As a fact it seems that it is during this period that the Spiders choose theirthermopreferendum.More than three readings a day must not be performed because otherwise the Spiders, wich are very sensitive to disturbances, are inclined to go towards the cold end of the box.Thethermopreferendum of theAgelena consociata takes place at 22°65 C±0,10 C as for the temperature of the air and at 22°89 C±0,12 C as for the temperature of the ground.

     

Stereotactic system and apparatus for use with magnetic resonance imaging, computerized tomography, and digital subtraction imaging

A light-weight nonmagnetic, nonconductive instrument has been devised for use with magnetic resonance imaging, computerized tomography, and digital subtraction imaging for work in the field of epilepsy, brain tumors and vascular lesions. The apparatus' main characteristic is its ability to use optionally either the lateral orthogonal or the spherical-radial approach.     

Targeting and fusion in vesicular transport

Vesicular transport of proteins and lipids between distinct subcellular compartments is directly responsible for generating and maintaining the structure of the organelles of the secretory and endocytic pathways in eukaryotic cells. Rapid advances in a variety of experimental systems have resulted in the identification of molecules involved in late steps of the transport process. This article presents a general paradigm for vesicular fusion and reviews the available experimental evidence.     

Optimization of growth conditions for the production of proteolytically-sensitive proteins in the periplasmic space of Escherichia coli

Summary The expression of many secreted recombinant proteins in Gram-negative bacteria is limited by degradation in the periplasmic space. We have previously shown that the production of protein A--lactamase, a secreted fusion protein highly sensitive to proteolysis in Escherichia coli, can be increased in mutant strains deficient in up to three cell-envelope-associated proteolytic activities. In this work we investigated the effect of fermentation conditions on suppressing any residual proteolytic activity in various protease-deficient strains. Optimal production of the fusion protein was observed in cells grown under mildly acidic conditions (5.5pH6.0) and at low temperatures. These conditios were shown to specifically decrease the rate of proteolysis. In addition, a further increase in production was observed in cultures supplemented with 0.5 to 0.75 mM zinc chloride. This may relate to the inhibition of a cell envelope protease by Zn²⁺ ions. Offsprint requests to: G. Georgiou     

NMR study of the molecular and electronic structure of the heme cavity of Aplysia metmyoglobin. Resonance assignments based on isotope labeling and proton nuclear Overhauser effect measurements

The 1H NMR characteristics of the high-spin metmyoglobin from the mollusc Aplysia limacina have been investigated and compared with those of the myoglobin (Mb) from sperm whale. Aplysia metMb exhibits a normal acid----alkaline transition with pK approximately 7.8. In the acidic form, the heme methyl and meso proton resonances have been assigned by 1H NMR using samples reconstituted with selectively deuterated hemins and in the latter case by 2H NMR as well. On the basis of the methyl peak intensities and shift pattern, heme rotational disorder could be established in Aplysia Mb; approximately 20% of the protein exhibits a reversed heme orientation compared to that found in single crystals. Three meso proton resonances have been detected in the upfield region between -16 and -35 ppm, showing that the chemical shift of such protons can serve as a diagnostic probe for a pentacoordinated active site in hemoproteins, as previously shown to be the case in model compounds. The temperature dependence of the chemical shift of the meso proton signals deviates strongly from the T-1 Curie behavior, reflecting the presence of a thermally accessible Kramers doublet with significant S = 3/2 character. Nuclear Overhauser effect, NOE, measurements on Aplysia metMb have provided the assignment of individual heme alpha-propionate resonances and were used to infer spatial proximity among heme side chains. The hyperfine shift values for assigned resonances, the NOE connectivities, and the NOE magnitudes were combined to reach a qualitative picture of the rotational mobility and the orientation of the vinyl and propionate side chains of Aplysia metMb relative to sperm whale MbH2O.(ABSTRACT TRUNCATED AT 250 WORDS)