A familial mutation in the testis-determining gene SRY shared by both sexes

A familial mutation in SRY, the gene coding for the testis-determining factor TDF, was identified in an XY female with gonadal dysgenesis, her father, her two brothers and her uncle. The mutation consists of a T to C transition in the region of the SRY gene coding for a protein motif known as the high mobility group (HMG) box, a protein domain known to confer DNA-binding specificity on the SRY protein. This point mutation results in the substitution, at amino acid position 109, of a serine residue for phenylalanine, a conserved aromatic residue in almost all HMG box motifs known. This F109S mutation was not found in 176 male controls. When recombinant wildtype SRY and SRY^F109S mutant protein were tested in vitro for binding to the target site AAC AAAG, no differences in DNA-binding activity were observed. These results imply that the F109S mutation either is a rare neutral sequence variant, or produces an SRY protein with slightly altered in vivo activity, the resulting sex phenotype depending on the genetic back-ground or environmental factors.This paper is dedicated by G. S. to Professor Ulrich Wolf on the occasion of his 60th birthday     

Phospholipid-stimulated protein kinase in plants

In membrane fractions from zucchini (Cucurbita pepo L.) hypocotyls, catalytic properties of a platelet-activating factor (PAF)-activated protein kinase were investigated. In the presence of [ethylenebis(oxyethylenenitrilo)]tetraacetic acid, phosphorylation of a 55-kDa membrane polypeptide and, to a lesser extent, several others, including a 120-kDa polypeptide, was stimulated by PAF. The phosphorylation of the 55-kDa polypeptide was used for quantification of the PAF-stimulated protein kinase. Stimulation of protein phosphorylation by PAF increased in a concentration range from 10-200 micrograms/ml (= 19-380 microM) PAF up to 10-fold above the control. Addition of Ca2+ ions in the micromolar range in the presence and in the absence of PAF increased the phosphorylation of the 55- and the 120-kDa polypeptide. Other phospholipids and lipids tested including phorbol ester, diglyceride, mono- and triglyceride, and oleic acid were ineffective. The same lipid specificity was previously observed for the activation of ATP-dependent H+ transport in microsomes (Scherer, G.F.E., Martiny-Baron, G., and Stoffel, B. (1988) Planta 175, 241-253). Lysophosphatidylcholine (LPC) and lysophosphatidylethanolamine (LPE) were able to stimulate the phosphorylation of the same polypeptides as PAF and H+ transport but both to a lesser extent (PAF greater than LPC greater than LPE). In the presence of EGTA, PAF-stimulated phosphorylation of a 55- and a 57-kDa polypeptide was predominantly associated with vacuolar membranes and those of 42, 61, 63, and 120 kDa were predominantly associated with plasma membranes. Stimulation of ATP-dependent H+ transport by PAF was found in tonoplast vesicles whereas plasma membrane vesicles had only little transport activity and, therefore, an effect of PAF on plasma membrane H+ transport could not be measured. Stimulation of ATP hydrolysis by PAF was observed both in tonoplast- and plasma membrane-containing fractions.     

Vanadate-sensitive proton efflux by filamentous cyanobacteria

Abstract Light-induced proton efflux has been investigated with intact cells of Anabaena, Nostoc, Anacystis , and Aphanocapsa . The proton efflux by filamentous blue-green algae is biphasic, strongly inhibited by ortho -vanadate and insensitive to cyanide. These data are taken as evidence for a proton-pumping ATP-hydrolase present on the cytoplasmic membrane of Anabaena and Nostoc .     

Human Emotion Experiences Can Be Predicted on Theoretical Grounds: Evidence from Verbal Labeling

In an effort to demonstrate that the verbal labeling of emotional experiences obeys lawful principles, we tested the feasibility of using an expert system called the Geneva Emotion Analyst (GEA), which generates predictions based on an appraisal theory of emotion. Several thousand respondents participated in an Internet survey that applied GEA to self-reported emotion experiences. Users recalled appraisals of emotion-eliciting events and labeled the experienced emotion with one or two words, generating a massive data set on realistic, intense emotions in everyday life. For a final sample of 5969 respondents we show that GEA achieves a high degree of predictive accuracy by matching a user’s appraisal input to one of 13 theoretically predefined emotion prototypes. The first prediction was correct in 51% of the cases and the overall diagnosis was considered as at least partially correct or appropriate in more than 90% of all cases. These results support a component process model that encourages focused, hypothesis-guided research on elicitation and differentiation, memory storage and retrieval, and categorization and labeling of emotion episodes. We discuss the implications of these results for the study of emotion terms in natural language semantics.     

On the electron delocalization in cyclopropenylidenes - An experimental charge-density approach

The extent and nature of cyclic electron delocalization in free and coordinated cyclopropenylidene carbenes has been analyzed by combined experimental and theoretical charge-density studies. The significant asymmetry of the C-C bond lengths in substituted cyclopropenylidene carbenes was identified as cooperative effect which depends on contributions of both σ- and π-bonding. We show that analyses of (i) the topology of the Laplacian of the electron density distribution and (ii) the out-of-plane atomic quadrupole moments - the charge-density analogues of p_π occupation - allow to distinguish between the influence of σ- and π-electrons on cyclic electron delocalization. These studies hint for pronounced electron localization in the carbene lone pair region which dominates the electronic structure of free cyclopropenylidene carbenes and hinders the establishment of true aromaticity. We further investigated the electron donating/withdrawing ability of cyclopropenylidene ligands relative to N-heterocyclic carbenes. The experimental benchmark systems LCr(CO)₅ (L = 2,3-diphenylcyclopropenylidene and 1,2-dimethylimidazol-2-ylidene) show that the cyclopropenylidene ligand clearly displays the higher π-acceptor capability relative to N-heterocyclic carbenes.     

Maximization of pulmonary hygroscopic aerosol deposition

A newly developed computer model is used to predict the aqueous salt solution concentration, breathing pattern, and inhaled droplet size distribution parameters that will maximize pulmonary deposition of hygroscopic medicinal aerosols. The parameter values providing maximum pulmonary deposition include 1) a NaCl concentration in the aerosolized solution of 0.035 g/ml or higher if the subject can tolerate it, 2) as nearly a monodispersed inhaled aerosol size distribution as possible, 3) an aerosol mass median diameter of 2-3 micron, and 4) slow (7 breaths/min) uninterrupted breathing of 1.5-2 liters of aerosol/breath. With these values, the model predicts that pulmonary deposition can be increased by greater than 100% relative to the deposition achieved in conventional inhalation therapy with isotonic saline-based medications.     

Inositol 1,4,5-trisphosphate is not effective in releasing calcium from skeletal sarcoplasmic reticulum microsomes

Regulation of many cell systems has been shown to be mediated by Inositol 1,4,5-trisphosphate which causes a release of calcium from intracellular sites. We have shown that release of Ca2+ from sarcoplasmic reticulum microsomes was not stimulated by IP3. The phorbol ester, TPA, also had no effect on Ca2+ release or Ca2+ ATPase activity. Thus, it is unlikely that the breakdown of polyphosphatidylinositides serves as a second messenger to mediate release of Ca2+ in skeletal muscle.