Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (OMIM #182960) is a heterogeneous group of disorders characterized by an almost exclusive degeneration of motor nerve fibers, predominantly in the distal part of the limbs. Silver syndrome (OMIM #270685) is a rare form of hereditary spastic paraparesis mapped to chromosome 11q12-q14 (SPG17) in which spasticity of the legs is accompanied by amyotrophy of the hands and occasionally also the lower limbs. Silver syndrome and most forms of dHMN are autosomal dominantly inherited with incomplete penetrance and a broad variability in clinical expression. A genome-wide scan in an Austrian family with dHMN-V (ref. 4) showed linkage to the locus SPG17, which was confirmed in 16 additional families with a phenotype characteristic of dHMN or Silver syndrome. After refining the critical region to 1 Mb, we sequenced the gene Berardinelli-Seip congenital lipodystrophy (BSCL2) and identified two heterozygous missense mutations resulting in the amino acid substitutions N88S and S90L. Null mutations in BSCL2, which encodes the protein seipin, were previously shown to be associated with autosomal recessive Berardinelli-Seip congenital lipodystrophy (OMIM #269700). We show that seipin is an integral membrane protein of the endoplasmic reticulum (ER). The amino acid substitutions N88S and S90L affect glycosylation of seipin and result in aggregate formation leading to neurodegeneration.     

The runaway greenhouse and the accumulation of CO2 in the Venus atmosphere

Conditions on Earth would be as hostile as on Venus if the Earth were closer to the Sun by only 6-10 million miles.     

Compensatory hypertrophy of the leydig cells in hemiorchidectomized adult rats

Summary Hemiorchidectomy in adult rats results in hypertrophy of the Leydig cells in the remaining testis. The other parts of the testis appear to be unaffected. Supported by the Swedish Medical Research Council (project 12X-05935) and the Harald Jeansson and Magn Bergvall Foundations.     

Femtosecond time-delay X-ray holography

Extremely intense and ultrafast X-ray pulses from free-electron lasers offer unique opportunities to study fundamental aspects of complex transient phenomena in materials. Ultrafast time-resolved methods usually require highly synchronized pulses to initiate a transition and then probe it after a precisely defined time delay. In the X-ray regime, these methods are challenging because they require complex optical systems and diagnostics. Here we propose and apply a simple holographic measurement scheme, inspired by Newton's 'dusty mirror' experiment, to monitor the X-ray-induced explosion of microscopic objects. The sample is placed near an X-ray mirror; after the pulse traverses the sample, triggering the reaction, it is reflected back onto the sample by the mirror to probe this reaction. The delay is encoded in the resulting diffraction pattern to an accuracy of one femtosecond, and the structural change is holographically recorded with high resolution. We apply the technique to monitor the dynamics of polystyrene spheres in intense free-electron-laser pulses, and observe an explosion occurring well after the initial pulse. Our results support the notion that X-ray flash imaging can be used to achieve high resolution, beyond radiation damage limits for biological samples. With upcoming ultrafast X-ray sources we will be able to explore the three-dimensional dynamics of materials at the timescale of atomic motion.     

High abundance of viruses found in aquatic environments

The concentration of bacteriophages in natural unpolluted waters is in general believed to be low, and they have therefore been considered ecologically unimportant. Using a new method for quantitative enumeration, we have found up to 2.5 x 10(8) virus particles per millilitre in natural waters. These concentrations indicate that virus infection may be an important factor in the ecological control of planktonic micro-organisms, and that viruses might mediate genetic exchange among bacteria in natural aquatic environments.     

Archaeology and age of a new hominin from Flores in eastern Indonesia

Excavations at Liang Bua, a large limestone cave on the island of Flores in eastern Indonesia, have yielded evidence for a population of tiny hominins, sufficiently distinct anatomically to be assigned to a new species, Homo floresiensis. The finds comprise the cranial and some post-cranial remains of one individual, as well as a premolar from another individual in older deposits. Here we describe their context, implications and the remaining archaeological uncertainties. Dating by radiocarbon (14C), luminescence, uranium-series and electron spin resonance (ESR) methods indicates that H. floresiensis existed from before 38,000 years ago (kyr) until at least 18 kyr. Associated deposits contain stone artefacts and animal remains, including Komodo dragon and an endemic, dwarfed species of Stegodon. H. floresiensis originated from an early dispersal of Homo erectus (including specimens referred to as Homo ergaster and Homo georgicus) that reached Flores, and then survived on this island refuge until relatively recently. It overlapped significantly in time with Homo sapiens in the region, but we do not know if or how the two species interacted.     

Early stone technology on Flores and its implications for Homo floresiensis

In the Soa Basin of central Flores, eastern Indonesia, stratified archaeological sites, including Mata Menge, Boa Lesa and Kobatuwa (Fig. 1), contain stone artefacts associated with the fossilized remains of Stegodon florensis, Komodo dragon, rat and various other taxa. These sites have been dated to 840-700 kyr bp (thousand years before present). The authenticity of the Soa Basin artefacts and their provenance have been demonstrated by previous work, but to quell lingering doubts, here we describe the context, attributes and production modes of 507 artefacts excavated at Mata Menge. We also note specific similarities, and apparent technological continuity, between the Mata Menge stone artefacts and those excavated from Late Pleistocene levels at Liang Bua cave, 50 km to the west. The latter artefacts, dated to between 95-74 and 12 kyr ago, are associated with the remains of a dwarfed descendent of S. florensis, Komodo dragon, rat and a small-bodied hominin species, Homo floresiensis, which had a brain size of about 400 cubic centimetres. The Mata Menge evidence negates claims that stone artefacts associated with H. floresiensis are so complex that they must have been made by modern humans (Homo sapiens).