A systematic survey of loss-of-function variants in human protein-coding genes

Genome-sequencing studies indicate that all humans carry many genetic variants predicted to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy in the human genome. Here we apply stringent filters to 2951 putative LoF variants obtained from 185 human genomes to determine their true prevalence and properties. We estimate that human genomes typically contain ~100 genuine LoF variants with ~20 genes completely inactivated. We identify rare and likely deleterious LoF alleles, including 26 known and 21 predicted severe disease-causing variants, as well as common LoF variants in nonessential genes. We describe functional and evolutionary differences between LoF-tolerant and recessive disease genes and a method for using these differences to prioritize candidate genes found in clinical sequencing studies.     

Comparative Earth History and Late Permian Mass Extinction

The repeated association during the late Neoproterozoic Era of large carbon-isotopic excursions, continental glaciation, and stratigraphically anomalous carbonate precipitation provides a framework for interpreting the reprise of these conditions on the Late Permian Earth. A paleoceanographic model that was developed to explain these stratigraphically linked phenomena suggests that the overturn of anoxic deep oceans during the Late Permian introduced high concentrations of carbon dioxide into surficial environments. The predicted physiological and climatic consequences for marine and terrestrial organisms are in good accord with the observed timing and selectivity of Late Permian mass extinction.     

Radio astronomy with very large arrray

The construction of the Very Large Array of radio telescopes has been completed, and this new research instrument is now being used to make radio images of astronomical objects with a resolution comparable to or better than that of ground-based optical telescopes. The role of the Very Large Array in current and future research is discussed both in principle and in terms of a sample of observing projects.     

IMAGING DIAGNOSIS—FDG‐PET/CT OF A CANINE SPLENIC PLASMA CELL TUMOR

An 8‐year‐old Shih Tzu developed abdominal pain and hyperglobulinemia. A round splenic mass was noted radiographically and sonographically. The patient was evaluated by fluorodeoxyglucose positron emission tomography coupled with computed tomography (FDG‐PET/CT). There was no evidence of metastasis or bone marrow involvement on PET/CT images. The standardized uptake value (SUV) of the splenic mass was increased over the reference range (SUV=4.83). The patient was diagnosed as splenic extramedullary plasmacytoma through immunohistopathologic study. After the splenectomy, the globulin level normalized and the patient is alive without complications.     

Bacteria in the food,gut contents and faeces of the litter-feeding millipede glomeris marginata (villers)

Bacteria from the food leaves and faeces of millipedes maintained in group cultures (12 animals) for 24 h were counted. Dilution plating and direct observation both showed significant increases in bacterial populations (10–100 fold) after passage through the gut. In cultures of single animals the increases were primarily the result of rapid growth in the midgut, though there was some evidence of further proliferation in the hindgut and faeces. The ratio of viable counts to direct counts was lower in litter than in the gut and faeces, suggesting that the gut environment enhanced bacterial growth and viability. Correlation between counts from guts and food leaves further indicated that the growth response was by the litter microflora and not indigenous gut symbionts.