De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous.     

The influence of general body size on the body proportions in man and other primates

Zusammenfassung Die vorliegende Arbeit befasst sich mit dem Einfluss der Sitzhöhe auf die relative Grösse der Kopfdurchmesser, der Gesichtshöhe, Nasenhöhe, Länge der Gliedmassen und deren Teile sowie der transversalen Durchmesser des Rumpfes. Sie stützt sich auf Massc, die an etwa 68 000 Individuen (Menschen und Affen) gemessen wurden. Bei Zunahme der Sitzhöhe weisen die nach der Rumpfhöhe berechneten Indizes in 95–98 % der Fälle eine progressive Abnahme auf. Zwischen beiden extremen Klassen der nach Sitzhöhe geordneten Bevölkerungen beträgt diese Abnahme ungefähr 5 % des durchschnittlichen Indexes; sie wurde aber mehr im einzelnen, den verschiedenen Körperteilen und Primatenbevölkerungen nach sowie in Beziehung mit eventuellem Geschlechtseinfluss berechnet. Auch in den durch Alter, Verpflegungsverhältnisse, Wanderzüge und Kreuzung verursachten Änderungen der Sitzhöhe kommt die negative Allometrie zum Ausdruck.

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This work has been executed in the Anthropological Institute of the University of Zürich.     

Physikalisch-chemische Untersuchungen eines komplexen Eiweisses: das lösliche Eiweiss der Augenlinse, α-Crystallin

Summary Ultracentrifugal and electrophoretic investigations of the eye lens protein -crystallin show the probability that this protein exists in the lens and in its solutions (between pH 3.5 and 9.5) in two sub-units only differing in shape: a globular and a stretched unit.

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Die betreffenden Untersuchungen wurden ausgeführt unter der Ägide der Niederländischen Stiftung für Chemische Forschung (S. O. N.) mit Unterstützung der Niederländischen Organisation für reinwissenschaftliche Forschung (Z. W. O.).     

Intestinal vasoactive peptide receptors in enterocytes : specific binding and stimulation of cyclic AMP]

Receptors for the vasoactive intestinal peptide (VIP) were characterized on enterocytes isolated from Rat small intestine. Native VIP inhibited competitively the binding of 125I-VIP to enterocytes and strongly stimulated cyclic AMP production; both these effects were observed for concentrations of VIP as low as 0.5-1.0 ng/ml (0.15-0.30 nM) which are compatible with the VIP concentration in the gut.     

A de novo paradigm for mental retardation

The per-generation mutation rate in humans is high. De novo mutations may compensate for allele loss due to severely reduced fecundity in common neurodevelopmental and psychiatric diseases, explaining a major paradox in evolutionary genetic theory. Here we used a family based exome sequencing approach to test this de novo mutation hypothesis in ten individuals with unexplained mental retardation. We identified and validated unique non-synonymous de novo mutations in nine genes. Six of these, identified in six different individuals, are likely to be pathogenic based on gene function, evolutionary conservation and mutation impact. Our findings provide strong experimental support for a de novo paradigm for mental retardation. Together with de novo copy number variation, de novo point mutations of large effect could explain the majority of all mental retardation cases in the population.     

Effect of Cu seed on the synthesis and characterization of FeCo alloy nano-particles by using polyol method

Fine metal particles with uniform shape,narrow size distribution and high purity are increasingly needed for specific uses in high tech industrial application.We report the direct chemical synthesis of FeCo alloy particles using the mixture of FeCl2·4H2O,Co(Ac) 2·4H2O(Ac:acetate) and NaOH in ethylene glycol,and then obtained FeCo alloy particles better dispersed by adding the polyvinylpyrrolidone(PVP) and also the size could be controlled by adding copper.The prepared nano-particles were characterized using FESEM,XRD and VSM.The mean diameter of these particles was varied in the range of submicrometer to nanometer with metal-ion concentration.FeCo particles showed the typical soft magnetic properties.     

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Brain malformations are individually rare but collectively common causes of developmental disabilities. Many forms of malformation occur sporadically and are associated with reduced reproductive fitness, pointing to a causative role for de novo mutations. Here, we report a study of Baraitser-Winter syndrome, a well-defined disorder characterized by distinct craniofacial features, ocular colobomata and neuronal migration defect. Using whole-exome sequencing of three proband-parent trios, we identified de novo missense changes in the cytoplasmic actin-encoding genes ACTB and ACTG1 in one and two probands, respectively. Sequencing of both genes in 15 additional affected individuals identified disease-causing mutations in all probands, including two recurrent de novo alterations (ACTB, encoding p.Arg196His, and ACTG1, encoding p.Ser155Phe). Our results confirm that trio-based exome sequencing is a powerful approach to discover genes causing sporadic developmental disorders, emphasize the overlapping roles of cytoplasmic actin proteins in development and suggest that Baraitser-Winter syndrome is the predominant phenotype associated with mutation of these two genes.     

A TRPV family ion channel required for hearing in Drosophila

The many types of insect ear share a common sensory element, the chordotonal organ, in which sound-induced antennal or tympanal vibrations are transmitted to ciliated sensory neurons and transduced to receptor potentials. However, the molecular identity of the transducing ion channels in chordotonal neurons, or in any auditory system, is still unknown. Drosophila that are mutant for NOMPC, a transient receptor potential (TRP) superfamily ion channel, lack receptor potentials and currents in tactile bristles but retain most of the antennal sound-evoked response, suggesting that a different channel is the primary transducer in chordotonal organs. Here we describe the Drosophila Nanchung (Nan) protein, an ion channel subunit similar to vanilloid-receptor-related (TRPV) channels of the TRP superfamily. Nan mediates hypo-osmotically activated calcium influx and cation currents in cultured cells. It is expressed in vivo exclusively in chordotonal neurons and is localized to their sensory cilia. Antennal sound-evoked potentials are completely absent in mutants lacking Nan, showing that it is an essential component of the chordotonal mechanotransducer.