Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

We identified de novo truncating mutations in ARID1B in three individuals with Coffin-Siris syndrome (CSS) by exome sequencing. Array-based copy-number variation (CNV) analysis in 2,000 individuals with intellectual disability revealed deletions encompassing ARID1B in 3 subjects with phenotypes partially overlapping that of CSS. Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.     

New bibenzyls of the liverwort,Radula variabilis

Summary 3 new bibenzyls having a 7-membered heterocyclic ring have been isolated from the liverwort,Radula variabilis and their structures have been established to be1, 3 and5.     

Distinguishing causality principles

We distinguish two sub-types of each of the two causality principles formulated in connection with the Common Cause Principle in Henson (2005) and raise and investigate the problem of logical relations among the resulting four causality principles. Based in part on the analysis of the status of these four principles in algebraic quantum field theory we will argue that the four causal principles are non-equivalent.     

Chromosomal rearrangements induced inDrosophila salivary gland chromosomes by an acridine half mustard

Zusammenfassung Bei Kontrolle der Speicheldrüsen ergibt sich, dass die Acridinbehandlung beiDrosophila Komplexinversionen erzeugt.     

Ontogeny of the sex steroid and prolactin receptors in the male rat adrenal gland

Summary Cytosolic estrogen and androgen receptors and membrane prolactin-binding sites in the male adrenal glands showed a definite pattern during sexual development. The level of sexual steroid receptors paralleled adrenal growth, whereas prolactin binding reached its maximum value in mature rats.Lüthy, I. A., Predoctoral Fellow from the Consejo Nacional de Investigaciones Cientificas y Técnicas and Calandra, R. S., Research Career Awardee from the Consejo Nacional de Investigaciones Científicas y Técnicas, Argentina.Acknowledgments. We would like to thank Mrs D. Bas and Mrs D. B. Destéfano for the skillful technical assistance and the secretarial work, respectively. This work was partially supported by the Consejo Nacional de Investigaciones Científicas y Técnicas de la República Argentina (CONICET), and the Comisión Nacional de Energía Atómica.     

Captivity affects behavioral physiology: Plasticity in signaling sexual identity

Summary Little is known about the link between captivity, physiology, and behavior in wild-caught vertebrates. Anecdotal evidence suggests that hormonal changes are responsible for behavioral changes in wild animals brought into captivity. Studying the effects of captivity on reproduction is hampered because wild animals often fail to exhibit sexual behavior under captive conditions. In weakly discharging electric fish, field studies have reported sex differences in electric organ discharges which are rarely seen in the laboratory. I now report the results of a series of laboratory investigations which show thatGnathonemus petersii exhibits seasonal, hormone-dependent, phasespecific sex differences in electric organ discharges. Captivity dramatically alters and may even reverse these sex differences as a result of rapid changes in endogenous plasma hormone levels. These findings have broad implications for research on animal physiology and behavior performed in laboratory settings.     

Interference of sodium ethylenediaminetetraacetate in the determination of proteins and its elimination

Zusammenfassung Es wird die Interferenz von Natrium Ethylendiaminotetraacetat bei der Eiweissbestimmung nach der Methode vonLowry et al. und deren Verhinderung gezeigt. Die Anwesenheit von Natrium Ethylendiaminotetraacetat interferiert bei der Eiweissbestimmung nach der Methode vonLowry, da sie selbst zur Reduktion des Folin-Reagens führt. Es gelingt, diese Interferenz durch Zusatz von CaCl₂ zu verhindern.