A recurrent mutation in PALB2 in Finnish cancer families

BRCA1, BRCA2 and other known susceptibility genes account for less than half of the detectable hereditary predisposition to breast cancer. Other relevant genes therefore remain to be discovered. Recently a new BRCA2-binding protein, PALB2, was identified. The BRCA2-PALB2 interaction is crucial for certain key BRCA2 DNA damage response functions as well as its tumour suppression activity. Here we show, by screening for PALB2 mutations in Finland that a frameshift mutation, c.1592delT, is present at significantly elevated frequency in familial breast cancer cases compared with ancestry-matched population controls. The truncated PALB2 protein caused by this mutation retained little BRCA2-binding capacity and was deficient in homologous recombination and crosslink repair. Further screening of c.1592delT in unselected breast cancer individuals revealed a roughly fourfold enrichment of this mutation in patients compared with controls. Most of the mutation-positive unselected cases had a familial pattern of disease development. In addition, one multigenerational prostate cancer family that segregated the c.1592delT truncation allele was observed. These results indicate that PALB2 is a breast cancer susceptibility gene that, in a suitably mutant form, may also contribute to familial prostate cancer development.     

Skew of mantle upwelling beneath the East Pacific Rise governs segmentation

Mantle upwelling is essential to the generation of new oceanic crust at mid-ocean ridges, and it is generally assumed that such upwelling is symmetric beneath active ridges. Here, however, we use seismic imaging to show that the isotropic and anisotropic structure of the mantle is rotated beneath the East Pacific Rise. The isotropic structure defines the pattern of magma delivery from the mantle to the crust. We find that the segmentation of the rise crest between transform faults correlates well with the distribution of mantle melt. The azimuth of seismic anisotropy constrains the direction of mantle flow, which is rotated nearly 10 degrees anticlockwise from the plate-spreading direction. The mismatch between the locus of mantle melt delivery and the morphologic ridge axis results in systematic differences between areas of on-axis and off-axis melt supply. We conclude that the skew of asthenospheric upwelling and transport governs segmentation of the East Pacific Rise and variations in the intensity of ridge crest processes.     

Engraftment of connexin 43-expressing cells prevents post-infarct arrhythmia

Ventricular tachyarrhythmias are the main cause of sudden death in patients after myocardial infarction. Here we show that transplantation of embryonic cardiomyocytes (eCMs) in myocardial infarcts protects against the induction of ventricular tachycardia (VT) in mice. Engraftment of eCMs, but not skeletal myoblasts (SMs), bone marrow cells or cardiac myofibroblasts, markedly decreased the incidence of VT induced by in vivo pacing. eCM engraftment results in improved electrical coupling between the surrounding myocardium and the infarct region, and Ca2+ signals from engrafted eCMs expressing a genetically encoded Ca2+ indicator could be entrained during sinoatrial cardiac activation in vivo. eCM grafts also increased conduction velocity and decreased the incidence of conduction block within the infarct. VT protection is critically dependent on expression of the gap-junction protein connexin 43 (Cx43; also known as Gja1): SMs genetically engineered to express Cx43 conferred a similar protection to that of eCMs against induced VT. Thus, engraftment of Cx43-expressing myocytes has the potential to reduce life-threatening post-infarct arrhythmias through the augmentation of intercellular coupling, suggesting autologous strategies for cardiac cell-based therapy.     

Water vapour in the atmosphere of a transiting extrasolar planet

Water is predicted to be among the most abundant (if not the most abundant) molecular species after hydrogen in the atmospheres of close-in extrasolar giant planets ('hot Jupiters'). Several attempts have been made to detect water on such planets, but have either failed to find compelling evidence for it or led to claims that should be taken with caution. Here we report an analysis of recent observations of the hot Jupiter HD 189733b (ref. 6) taken during the transit, when the planet passed in front of its parent star. We find that absorption by water vapour is the most likely cause of the wavelength-dependent variations in the effective radius of the planet at the infrared wavelengths 3.6 mum, 5.8 mum (both ref. 7) and 8 mum (ref. 8). The larger effective radius observed at visible wavelengths may arise from either stellar variability or the presence of clouds/hazes. We explain the report of a non-detection of water on HD 189733b (ref. 4) as being a consequence of the nearly isothermal vertical profile of the planet's atmosphere.     

Invisible invasion: potential contamination of Yellowstone hot springs by human activity

This report establishes a baseline inventory of microorganisms in acidic hot springs of Yellowstone National Park (YNP). The analysis is based on observations carried out over the past 25 years using light microscopy, DNA staining, and electron microscopy of environmental samples. The inventory, while incomplete in that not all organisms have been cultured or examined using genetic approaches, represents a study of several solfatara (acid sulfate) geyser basins in YNP. We found that the types of microorganisms in flowing springs had changed over time. In contrast, no such changes occurred in mixing pools. We solicited opinions of prominent YNP microbiologists to address the issue of change in the context of human cross-contamination of springs and to suggest sampling protocols. While the consensus is that research has not introduced exotic species, this explanation is always uncertain. The issues related to this uncertainty, including human cross-contamination, are discussed, and sampling methods designed to best preserve the springs for future investigations are described.     

Vegetation change detection using artificial neural networks with ancillary data in Xishuangbanna,Yunnan Province,China

Timely and accurate change detection of the Earth’s surface features provides the foundation for better planning, management and environmental studies. In this study ANN change detection was used to perform vegetation change detection, and was compared with post-classification method. Before the post-classification was performed the ANN classification was used to yield multitemporal vegetation maps. ANN were also used to perform a one-pass classification for the images in 2003 and 2004. DEM and slope were used as two extra channels. During the training stage, the training data was separated into 82 subclasses including 36 change subclasses and 46 no change subclasses. Moreover NDVI differencing methods were used to develop the change mask. The result showed that combining the NDVI differencing method with visual interpretation when identifying reference areas can produce more accurate change detection results for the ANN one pass change classification. Moreover, it is effective to use elevation and slope as extra channels together with PCA components, to perform ANN-based change detection in mountainous study areas. It is also important to separate the vegetation transition classes into subclasses based on spectral response patterns, especially for mountainous terrains. This processing can reduce the topographic effect and improve the change detection accuracy.

     

Grass spider microhabitat use in Organ Pipe Cactus National Monument, Arizona

The grass spider ( Agelena naevia ), commonly found in Organ Pipe Cactus National Monument, Arizona, uses rodent burrows located under a shrub canopy more frequently for web construction than burrows located in the open. The average number of prey available in canopy microhabitat was greater than in open microhabitat, and unequal prey abundance may explain spider microhabitat use.