Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

Megaloblastic anaemia 1 (MGA1, OMIM 261100) is a rare, autosomal recessive disorder characterized by juvenile megaloblastic anaemia, as well as neurological symptoms that may be the only manifestations. At the cellular level, MGA1 is characterized by selective intestinal vitamin B12 (B12, cobalamin) malabsorption. MGA1 occurs worldwide, but its prevalence is higher in several Middle Eastern countries and Norway, and highest in Finland (0.8/100,000). We previously mapped the MGA1 locus by linkage analysis in Finnish and Norwegian families to a 6-cM region on chromosome 10p12.1 (ref. 8). A functional candidate gene encoding the intrinsic factor (IF)-B12 receptor, cubilin, was recently cloned; the human homologue, CUBN, was mapped to the same region. We have now refined the MGA1 region by linkage disequilibrium (LD) mapping, fine-mapped CUBN and identified two independent disease-specific CUBN mutations in 17 Finnish MGA1 families. Our genetic and molecular data indicate that mutations in CUBN cause MGA1.     

Direct observation of a submarine volcanic eruption from a sea-floor instrument caught in a lava flow

Our understanding of submarine volcanic eruptions has improved substantially in the past decade owing to the recent ability to remotely detect such events and to then respond rapidly with synoptic surveys and sampling at the eruption site. But these data are necessarily limited to observations after the event. In contrast, the 1998 eruption of Axial volcano on the Juan de Fuca ridge was monitored by in situ sea-floor instruments. One of these instruments, which measured bottom pressure as a proxy for vertical deformation of the sea floor, was overrun and entrapped by the 1998 lava flow. The instrument survived-being insulated from the molten lava by the solidified crust-and was later recovered. The data serendipitously recorded by this instrument reveal the duration, character and effusion rate of a sheet flow eruption on a mid-ocean ridge, and document over three metres of lava-flow inflation and subsequent drain-back. After the brief two-hour eruption, the instrument also measured gradual subsidence of 1.4 metres over the next several days, reflecting deflation of the entire volcano summit as magma moved into the adjacent rift zone. These findings are consistent with our understanding of submarine lava effusion, as previously inferred from seafloor observations, terrestrial analogues, and laboratory simulations.     

Distribution of the subterranean amphipod Stygobromus in central Colorado streams, with notes on the interstitial community

As part of a larger study on the aquatic life of streams in central Colorado, efforts were made to determine the distribution of interstitial organisms, with emphasis on the subterranean amphipod Stygobromus . In a preliminary screening-level study, sampling for Stygobromus was conducted in 1985 at 47 sites along the Front Range of Colorado at elevations generally matching the type locale for S. coloradensis and S. pennaki at the confluence of the North Fork of the South Platte River and its mainstem. A more intensive follow-up study was conducted in 1988 at 30 sites concentrating on the upper South Platte River basin. In the follow-up study both hyporheic and shore zone (phreatic) habitats were sampled using a variety of techniques (Bou-Rouch pump, Karaman-Chappuis technique, and a coarsemesh wide-mouth net, as appropriate). In the preliminary study Stygobromus spp. were collected at only 12 of 47 study sites, with all collections in the vicinity of the type locale. In the follow-up study Stygobromus were found at 16 of 30 sites sampled, extending the known distribution in Colorado of S. coloradensis and S. pennaki well beyond the type locale. The use of multiple sampling techniques was important in locating these organisms. In addition to the amphipod Stygobromus , sampling sites in the follow-up study contained a rich interstitial community, including copepods, bathynellids, tardigrades, archiannelids, and ostracods.     

Discovery of very-high-energy gamma-rays from the Galactic Centre ridge

The source of Galactic cosmic rays (with energies up to 10(15) eV) remains unclear, although it is widely believed that they originate in the shock waves of expanding supernova remnants. At present the best way to investigate their acceleration and propagation is by observing the gamma-rays produced when cosmic rays interact with interstellar gas. Here we report observations of an extended region of very-high-energy (> 10(11) eV) gamma-ray emission correlated spatially with a complex of giant molecular clouds in the central 200 parsecs of the Milky Way. The hardness of the gamma-ray spectrum and the conditions in those molecular clouds indicate that the cosmic rays giving rise to the gamma-rays are likely to be protons and nuclei rather than electrons. The energy associated with the cosmic rays could have come from a single supernova explosion around 10(4) years ago.     

In vitro stimulation of chicken pituitary growth hormone and prolactin secretion by chicken hypothalamic extract

Summary The effect of an acid extract of chicken hypothalami on the in vitro secretion of prolactin and growth hormone (GH) by dispersed chicken pituitary cells has been investigated. Both prolactin and GH release were stimulated in a dose related manner in the presence of the hypothalamic extract (HE). Somatostatin had no effect on the basal or HE stimulated release of prolactin although it did inhibit the HE induced release of GH.     

Forensic Science: Current State and Perspective by a Group of Early Career Researchers

Forensic science and its influence on policing and the criminal justice system have increased since the beginning of the twentieth century. While the philosophies of the forensic science pioneers remain the pillar of modern practice, rapid advances in technology and the underpinning sciences have seen an explosion in the number of disciplines and tools. Consequently, the way in which we exploit and interpret the remnant of criminal activity are adapting to this changing environment. In order to best exploit the trace, an interdisciplinary approach to both research and investigation is required. In this paper, nine postdoctoral research fellows from a multidisciplinary team discuss their vision for the future of forensic science at the crime scene, in the laboratory and beyond. This paper does not pretend to be exhaustive of all fields of forensic science, but describes a portion of the postdoctoral fellows’ interests and skills.     

Measurement of polyethylene glycol 4000: Effect of storage and freeze thawing in biological fluids

Summary The effects of storage and freeze-thawing on polyethylene glycol 4000 (PEG 4000) and¹⁴C PEG 4000 in a solution of NaCl (150 mmoles/l) containing varying amounts of human albumin were studied. Results showed that the analysis of both PEG 4000 and¹⁴C PEG 4000 is likely to be inaccurate in these fluids if the specimens have been freeze-stored, thawed and refrozen several times during a period of several weeks. This seems to be due to the freeze-thawing process itself rather than the actual storage. The amount of protein in the samples may increase the fall in estimated levels of polyethylene glycol observed.