Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome,using FISH and four DNA polymorphisms

Williams syndrome (WS) is associated with a submicroscopic deletion of the elastin gene (ELN) at 7q11.23. The deletion encompasses closely linked DNA markers. We have investigated 44 patients referred for possible WS using fluorescence in situ hybridization (FISH) analysis with a P1 clone containing an insert from the ELN, as well as performing genotype analysis of patients and parents with four DNA polymorphisms. Twenty-four patients were found to have deletions, 19 of whom were found clinically to have typical WS. The facial features were especially characteristic. None of the patients without detectable deletions was reported to have typical WS features, although one had supravalvular aortic stenosis, hypercalcemia, and mental retardation. No evidence was found in this material for variability of the size of the deletion. Our study supports the usefulness of analysis of ELN deletion in WS patients, both for confirmation of diagnosis and for genetic counselling. Received: 2 August 1996     

Organotin-induced hemolysis,shape transformation and intramembranous aggregates in human erythrocytes

Organotin compounds examined in this study exhibited a relative order of potency for induction of in vitro hemolysis in human erythrocytes as follows: tri-n-butyltin > tri-n propyltin > tetra-n-butyltin > triphenyltin chloride > tri-n-ethyltin bromide > dibutyltin dichloride > stannous chloride > tri-n-methyltin chloride = butyltin chloride dihydroxide. All of the organotin compounds induced erythrocyte shape transformation from the normal discocyte to an echinocyte and, in addition, triphenyltin chloride, tetra-n-butyltin and tri-n-ethyltin bromide also elicited stomatocyte formation at higher concentrations. Select organotin compounds also formed tin-containing aggregates within the plasma membrane. The relative order of effectiveness for organotin induction of intramembranous aggregates was tri-n-butyltin > tri-npropyltin > tetra-n-butyltin > tri-n-ethyltin bromide, which was based upon the lowest concentration at which they were observed. These results support the previously suggested theory that organotins are membrane effectors because of their comparatively high hydrophobic, lipid partitioning properties. The relatively lipophilic compound, triphenyltin chloride, appeared to be anomalous because it did not readily promote hemolysis or induce the formation of intramembranous aggregates in human erythrocytes. A log-linear statistical model demonstrated an association of hemolysis with both tri-n-butyltin aggregate formation and shape transformation. Select organotin compounds should be useful probes in membrane studies because of their numerous effects.Abbreviations DBT dibutylin dichloride - MBT butyltinchloride dihydroxide - SnCl₂ stannous chloride - TBT tri-n-butyltin - TET tri-n-ethyltin bromide - TMT tri-n-methyltin chloride - TPhT triphenyltin chloride - TPT tri-n-propyltin - TTBT tetra-n-butyltin     

Use of time‐lapse photography and digital image analysis to estimate breeding success of a cliff‐nesting seabird

Development of new methods for obtaining basic demographic data from difficult‐to‐access breeding colonies and easily disturbed species is an important challenge in studies of seabirds. We describe a method that can generate data concerning annual breeding success of cliff‐nesting seabirds or other colonial birds with open nests. Our method requires only a single visit to a colony every second or third year, and is based on the use of automated time‐lapse photography. To test our method, we used time‐lapse photos to examine the breeding success of Thick‐billed Murres (Uria lomvia) in two breeding colonies in Greenland during the years 2011, 2012, and 2014. Based on the analysis of time‐lapse photos, we found that hatching success during the 3 yr of our study ranged from 60% to 81%, fledging success from 89% to 95%, and breeding success from 53% to 74% (Table 1). Use of digital image analysis made it possible to differentiate between breeding and non‐breeding birds and determine if and when breeding attempts failed or succeeded. The key to making our method a realistic long‐term monitoring technique is the use of an automated, formal image analysis to process the thousands of photos from the time‐lapse cameras and, more specifically, to reduce a large number of photos to a manageable number. Using our method, we needed 12–22 h per study plot, depending on the number of breeding sites per plot (range = 47–127) and whether it was the first or the second time the plot was analyzed, to obtain our estimates of hatching, fledging, and breeding success. This included time for data preparation, image analyses, visual inspections, and summarizing data in a spreadsheet. We found that our estimates of breeding success were comparable to those obtained by direct observation in the field. An important aspect of using time‐lapse technology is to foresee potential reasons why time‐lapse cameras might stop taking pictures, for example, equipment failure (camera, timer, or battery) or interference by visitors (e.g., vandalism or theft). As such, thorough testing of time‐lapse systems and selecting camera locations less likely to be disturbed are most important. We believe that use of time‐lapse photography in combination with digital image analysis to estimate breeding success can be useful for determining the breeding success of other cliff‐nesting seabirds and, more generally, other birds that breed in colonies, especially those located in remote areas and where direct observation may disturb birds.     

Selective Inhibition of Phosphoinositide 3-Kinase p110α Preserves Lymphocyte Function

Class IA phosphoinositide 3-kinase (PI3K) is essential for clonal expansion, differentiation, and effector function of B and T lymphocytes. The p110δ catalytic isoform of PI3K is highly expressed in lymphocytes and plays a prominent role in B and T cell responses. Another class IA PI3K catalytic isoform, p110α, is a promising drug target in cancer but little is known about its function in lymphocytes. Here we used highly selective inhibitors to probe the function of p110α in lymphocyte responses in vitro and in vivo. p110α inhibition partially reduced B cell receptor (BCR)-dependent AKT activation and proliferation, and diminished survival supported by the cytokines BAFF and IL-4. Selective p110δ inhibition suppressed B cell responses much more strongly, yet maximal suppression was achieved by targeting multiple PI3K isoforms. In mouse and human T cells, inhibition of single class IA isoforms had little effect on proliferation, whereas pan-class I inhibition did suppress T cell expansion. In mice, selective p110α inhibition using the investigational agent MLN1117 (previously known as INK1117) did not disrupt the marginal zone B cell compartment and did not block T cell-dependent germinal center formation. In contrast, the selective p110δ inhibitor IC87114 strongly suppressed germinal center formation and reduced marginal zone B cell numbers, similar to a pan-class I inhibitor. These findings show that although acute p110α inhibition partially diminishes AKT activation, selective p110α inhibitors are likely to be less immunosuppressive in vivo compared with p110δ or pan-class I inhibitors.     

Biofilm and disinfection in meat processing plants

Like other food branches the meat industry is met by increasing demands to cleaning and disinfection in order to remove microbial coatings such as biofilm. A crucial point is, however, to document the presence of bacteria in biofilm on processing equipment. This paper describes an indirect way to detect foodborne biofilms on visually clean equipment surfaces.If at all possible, elimination of biofilm-bound bacteria on processing equipment is an arduous task. If the biofilm is established, it is not removed in daily sanitation unless extra actions are employed. Various methods such as mechanical treatment as well as extra disinfection have been investigated in practice. The results show that a reduction in bacterial load could be achieved, but at present neither one single method nor one single chemical completely eliminated the microorganisms.In conclusion, in order to minimise biofilm-bound bacteria on processing equipment, the critical sites should be identified and paid full attention to during sanitation. Further, the right choice and usage of cleaners and disinfectants as well as an adequate sanitation programme must be thoroughly considered.     

Potential impact of climatic change on the distribution of forest herbs in Europe

The aim of this study is to evaluate the possible consequences of climate change on a representative sample of forest herbs in Europe. A fuzzy climatic envelope was used to predict the location of suitable climatic conditions under two climatic change scenarios. Expected consequences in terms of lost and gained range size and shift in distribution for 26 forest herbs were estimated. These results were combined in an Index of Predicted Range Change for each species. Finally, the effects of habitat fragmentation for potential dispersal routes were evaluated and options for management on a European scale are discussed. Generally, a good agreement of the estimated suitability under the present climate and the observed current distribution was observed. However, species vary a lot in the degree to which they occupy the presently climatically suitable areas in Europe. Many species are absent from large areas with suitable climate and thus could be said to have poor range‐filling capacity. A general change in location (range centroid) of the total suitable area was observed: The total suitable area will on average move strongly northwards and moderately eastwards under the relatively mild B1 scenario and more strongly so under the A2 scenario. The required average minimum migration rate per year to track the potential range shift is 2.1 km under the B1 scenario and 3.9 km under the A2 scenario. Moderate losses in the total suitable area in Europe are predicted for most species under both scenarios. However, the predicted changes are very variable, with one species (Actaea erythrocarpa) experiencing total range elimination in Europe (A2 scenario) while the total suitable area is predicted to show large increases for other species. The species that are predicted to experience the greatest proportional losses in their climatically suitable area within their presently realised range tend to have northern or eastern range centroids. The Index of Predicted Range Change roughly divides the species studied in four groups: One species face a high risk of extinction; eight species are expected to experience moderate to severe threat of extinction; 11 species are not considered at risk and, finally, six species may actually benefit from global warming. An analysis of potential migration routes shows the importance of maintaining and, if possible, improving the network of forest throughout Europe to make migration possible. It is also suggested to closely monitor the status of boreal and subalpine species that are most threatened by global warming. Finally it is recommended that special concern should be given to increased protection and restoration of forest habitats in southern montane areas for their crucial long‐term importance for the maintenance of European plant diversity.     

Neue Abdominaldrüsen bei Ameisen

Zusammenfassung Sechs Ponerinen aus dem Tribus Ponerini wurden auf Abdominaldrüsen untersucht:Leptogenys ocellifera (Roger),Leptogenys chinensis (Mayr),Diacamma sp.,Odontomachus haematodes (L.),Harpegnathus saltator (Jerdon) undPonera coarctata (Latreille). Eine große Vielfalt von verschiedenen Drüsenorganen konnte gefunden werden (Tabelle 1). Bei jeder untersuchten Art fanden wir dorsal zwischen dem 6. und 7. Abdominaltergit eine intersegmentale Komplexdrüse. Die Größe der Drüsen, die Anordnung ihrer Drüsenzellen und die Form der Reservoire sind z.T. sehr unterschiedlich ausgebildet. BeiLeptogenys wie auch beiH. saltator befindet sich intersegmental zwischen dem 6. und 7. Abdominalsternit eine Komplexdrüse.Leptogenys verfügt zusätzlich über eine Komplexdrüse zwischen dem 5. und 6. Abdominalsternit. An der Mündung der gut ausgebildeten Reservoire dieser Drüsen finden sich bei einigen Arten charakteristisch geformte Kutikulastrukturen, die als Oberflächenvergrößerung oder Sekretspeicher interpretiert werden.Tergo-sternal gelegene Bündel von Drüsenzellen finden sich beiDiacamma sp.,P. coarctata, H. saltator und beiO. haematodes. Einen weiteren Drüsentypus bilden Ansammlungen von Epitheldrüsenzellen. BeiL. ocellifera liegen diese Zellen dem 6. Sternit; beiL. chinensis dem 7. Sternit auf. Auch Stacheldrüsen sind in einer ähnlichen Vielfalt vorhanden. BeiDiacamma sp. befinden sich in den Stachelscheiden zwei verschiedene Typen von sezernierenden Zellen, Drüsenzellen mit einem Ausführkanal und Epitheldrüsenzellen. Bei den Vertreterinnen der GattungLeptogenys, O. haematodes undP. coarctata liegt nur der erstere Drüsentyp in ausgeprägter Form vor. Bei diesen Arten wie auch beiH. saltator sind die Epithelzellen der Stachelscheiden im Vergleich zu jenen Epitheldrüsenzellen beiDiacamma sp. geringfügig erhöht. Drüsenzellen mit einem Ausführkanal konnten beiH. saltator in den Stachelscheiden nicht gefunden werden.H. saltator undO. haematodes zeichnen sich an der Membran zwischen den oblongen Platten (Stachelscheidenbasis) durch einen großen paarigen Komplex von sezernierenden Zellen aus. An dieser Stelle finden sich auch beiDiacamma sp.,P. coarctata undL. chinensis einzelne Drüsenzellen. Zusätzlich ist beiDiacamma sp. hier eine Ansammlung von Epitheldrüsenzellen vorhanden, die angedeutet ebenfalls bei den anderen Arten vorliegt. Bei allen untersuchten Arten münden Kanäle von unterschiedlich großen, dorsolateral gelegenen Komplexen von Drüsenzellen in die membranose Verbindung des Stachelapparates mit dem letzten freien Segment. BeiDiacamma sp.,P. coarctata, O. haematodes undH. saltator befinden sich zudem lateral der Spirakularplatten kleine Ansammlungen von Drüsenzellen.Diacamma sp.,P. coarctata undH. saltator verfügen über latero-ventral befindliche Drüsenzellen, deren Kanäle in die Membran zwischen dem Stachelapparat und dem 7. Sternit münden.

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New abdominal glands in antsI. Ponerini (Formicidae: Ponerinae)

Summary The abdominal glands of six ponerine ants belonging to the tribe Ponerini were analysed:Leptogenys ocellifera (Roger),Leptogenys chinensis (Mayr),Diacamma sp.,Ponera coarctata (Latreille),Odontomachus haematodes (L.) andHarpegnathus saltator (Jerdon). A great variety of glands was found. An intersegmental complex gland is located between the sixth and seventh abdominal tergite in each species investigated. But size, arrangement of gland cells and shape of reservoir differ. In addition, representatives of the genusLeptogenys andH. saltator both have sternal intersegmental complex glands. InL. ocellifera andL. chinensis these glands are located between the fifth and sixth and also between the sixth and seventh abdominal sternite. InH. saltator one sternal gland is situated between the sixth and seventh abdominal sternite. In some species we found characteristical sculptures on the cuticle at the orifice of the well developed reservoirs of the glands. These sculptures could be interpreted as an enlarging of the surface of the cuticle or as a reservoir.Another type of gland cells are epithelial glandular cells. They form distinct layers on the seventh sternite inL. chinensis and on the sixth sternite inL. ocellifera.Tergo-sternal bunches of secretory cells were observed inDiacamma sp.,P. coarctata, H. saltator and inO. haematodes. A similar variety of glands was found associated with the sting apparatus in the gonostyli, at the membrane between the two oblong plates and at the membranous connections between the sting apparatus and the last abdominal segment. InDiacamma sp. two distinct glandular cells are located in the gonostylar sclerites, i.e. secretory cells, each drained by a cuticular ductule and epithelial glandular cells. In the two representatives of the genusLeptogenys, inO. haematodes and inP. coarctata only the first type of gland cell was found. In these species as well as inH. saltator the epidermal cells of the gonostylar sclerites form different states of transition from degenerated epithelial cells to glandular epithelial cells. InH. saltator there are no secretory cells with a cuticular ductule in the gonostyli.Likewise, large paired complexes of gland cells were found at the base of two genostylar sclerites inH. saltator and inO. haernatodes. Though less developed, gland cells of the latter type are inDiacamma sp., P. coarctata and inL. chinensis also located at the base of the gonostyli. InDiacamma sp. the epidermal cells of the membrane connecting the two gonostyli do have secretory function. In the other species investigated they are less developed, and a secretory function cannot be considered certain. In each species investigated ductules of gland cells also open dorsolaterally into the sting chamber. Furthermore inDiacamma sp.P. coarctata, O. haematodes and inH. saltator, ductules of gland cells also open laterally and, except inO. haematodes, latero-ventrally into the membranous connection between the sting apparatus and the last abdominal segment.

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Mit Unterstützung der Deutschen Forschungsgemeinschaft. Herrn Dipl.-Biol. R. Klinger danken wir für stete Diskussionsbereitschaft sowie Herrn Dr. W. Gnatzy für wertvolle Hinweise.