Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.

The peroxisomal membrane protein, with a relative molecular mass of 70,000 (M(r) 70K) (PMP70), is an important component of peroxisomal membranes and an ATP-binding cassette protein. To investigate its possible involvement in Zellweger syndrome (ZS), an inborn error of peroxisome assembly, we cloned and sequenced cDNAs for human PMP70 and mapped the gene to chromosome 1. Amongst 32 probands with ZS or related disorders, we found two mutant PMP70 alleles in single ZS probands from the same complementation group. One allele has a donor splice site mutation and the second a missense mutation. Our results suggest that PMP70 plays an important role in peroxisome biogenesis and that mutations in PMP70 may be responsible for a subset of ZS patients.     

Natural engineering principles of electron tunnelling in biological oxidation-reduction

We have surveyed proteins with known atomic structure whose function involves electron transfer; in these, electrons can travel up to 14 A between redox centres through the protein medium. Transfer over longer distances always involves a chain of cofactors. This redox centre proximity alone is sufficient to allow tunnelling of electrons at rates far faster than the substrate redox reactions it supports. Consequently, there has been no necessity for proteins to evolve optimized routes between redox centres. Instead, simple geometry enables rapid tunnelling to high-energy intermediate states. This greatly simplifies any analysis of redox protein mechanisms and challenges the need to postulate mechanisms of superexchange through redox centres or the maintenance of charge neutrality when investigating electron-transfer reactions. Such tunnelling also allows sequential electron transfer in catalytic sites to surmount radical transition states without involving the movement of hydride ions, as is generally assumed. The 14 A or less spacing of redox centres provides highly robust engineering for electron transfer, and may reflect selection against designs that have proved more vulnerable to mutations during the course of evolution.     

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.     

Strain effects and phase transitions in photonic resonator crystals

Optical structures with periodic variations of the dielectric constant in one or more directions (photonic crystals) have been employed extensively for studying optical diffraction phenomena. Practical interest in such structures arises from the possibilities they offer for tailoring photon modes, and thereby the characteristics of light propagation and light-matter interactions. Photonic resonator crystals comprising two-dimensional arrays of coupled optical microcavities have been fabricated using vertical-cavity surface-emitting laser wafers. In such structures, the light propagates mostly normal to the periodic plane. Therefore, the corresponding lateral Bragg-periodicities are larger, a feature that is advantageous for device manufacture as it allows for larger lattice constants in the lateral direction. Here we investigate strain effects in a photonic resonator crystal by shifting neighbouring lattice rows of microcavities in opposite directions, thereby introducing an alternating square or quasi-hexagonal pattern of shear strain. We find that, for strain values below a critical threshold, the lasing photon mode is virtually locked to the corresponding mode supported by the unstrained photonic crystal. At the critical strain value, we observe a phase-transition-like switching between the square and quasi-hexagonal lattice modes. The tolerance of subcritical strains suggests that the resonator crystal may be useful for applications requiring high spatial coherence across the lattice, while the mode switching could potentially be exploited in free-space optical communications.     

Das beim Gefrieren von Gelen entstehende Eis

Summary Highly swollen gels which contain, in addition to a large amount of solvent, a spatial network formed by chains of a high polymer, show an abnormal lowering of the freezing point. This is caused by the fact that the network prevents the formation of macroscopically undisturbed crystals.If, in the course of freezing at this lower temperature, a conglomerate of microcrystals were created corresponding in size to the width of the network, one should be able to observe a broadening of the X-ray interference lines. Experiments have shown that no measurable broadening takes place.This is explained by the assumption that a crystal which is prevented from growing in the normal way by the surrounding filaments of the gel, when cooled to a suitably low temperature grows crystallites with a small cross-section corresponding to the mesh size. The crystallites thus formed are orientated in a crystallographically exact manner toward their supporting crystal and parallel to each other. Therefore, when reaching the necessary height, they unite to larger, ordered crystalline regions which incorporate the polymeric filaments. This explains the observed sharpness of the X-ray interferences as well as the observation that, upon heating of a frozen gel, the melting does not occur at the same low temperature as the freezing, but closer to the melting point of macroscopic ice.     

Glycogen content in young and old rats liver and muscles

Zusammenfassung Der Glykogen-Gehalt von jungen und alten, weissen und roten, ruhenden und arbeitenden Muskeln sowie in der Leber von Ratten wurde bestimmt. Dieser vermindert sich im Alter sehr stark und sinkt weiter bei Arbeit der Muskeln.     

Microstructure of a spatial map in the entorhinal cortex

The ability to find one's way depends on neural algorithms that integrate information about place, distance and direction, but the implementation of these operations in cortical microcircuits is poorly understood. Here we show that the dorsocaudal medial entorhinal cortex (dMEC) contains a directionally oriented, topographically organized neural map of the spatial environment. Its key unit is the 'grid cell', which is activated whenever the animal's position coincides with any vertex of a regular grid of equilateral triangles spanning the surface of the environment. Grids of neighbouring cells share a common orientation and spacing, but their vertex locations (their phases) differ. The spacing and size of individual fields increase from dorsal to ventral dMEC. The map is anchored to external landmarks, but persists in their absence, suggesting that grid cells may be part of a generalized, path-integration-based map of the spatial environment.