Assessing the impact of population stratification on genetic association studies

Population stratification refers to differences in allele frequencies between cases and controls due to systematic differences in ancestry rather than association of genes with disease. It has been proposed that false positive associations due to stratification can be controlled by genotyping a few dozen unlinked genetic markers. To assess stratification empirically, we analyzed data from 11 case-control and case-cohort association studies. We did not detect statistically significant evidence for stratification but did observe that assessments based on a few dozen markers lack power to rule out moderate levels of stratification that could cause false positive associations in studies designed to detect modest genetic risk factors. After increasing the number of markers and samples in a case-cohort study (the design most immune to stratification), we found that stratification was in fact present. Our results suggest that modest amounts of stratification can exist even in well designed studies.     

Articulated Palaeozoic fossil with 17 plates greatly expands disparity of early chitons

Modern chitons (Mollusca: Polyplacophora) possess a highly conserved skeleton of eight shell plates (valves) surrounded by spicules or scales, and fossil evidence suggests that the chiton skeleton has changed little since the first appearance of the class in the Late Cambrian period (about 500 million years before present, Myr bp). However, the Palaeozoic problematic taxon Multiplacophora, in spite of having a more complex skeleton, shares several derived characters with chitons. The enigmatic status of the Multiplacophora is due in part to the fact that its members had an exoskeleton of numerous calcium carbonate valves that usually separated after death. A new articulated specimen from the Carboniferous period (about 335 Myr bp) of Indiana reveals that multiplacophorans had a dorsal protective surface composed of head and tail valves, left and right columns of overlapping valves (five on each side), and a central zone of five smaller valves, all surrounded by an annulus of large spines. Here we describe and name the articulated specimen and present evidence that multiplacophorans were chitons. Thus the highly conserved body plan of living chitons belies the broad disparity of this clade during the Palaeozoic era.     

The central dusty torus in the active nucleus of NGC 1068

Active galactic nuclei (AGNs) display many energetic phenomena--broad emission lines, X-rays, relativistic jets, radio lobes--originating from matter falling onto a supermassive black hole. It is widely accepted that orientation effects play a major role in explaining the observational appearance of AGNs. Seen from certain directions, circum-nuclear dust clouds would block our view of the central powerhouse. Indirect evidence suggests that the dust clouds form a parsec-sized torus-shaped distribution. This explanation, however, remains unproved, as even the largest telescopes have not been able to resolve the dust structures. Here we report interferometric mid-infrared observations that spatially resolve these structures in the galaxy NGC 1068. The observations reveal warm (320 K) dust in a structure 2.1 parsec thick and 3.4 parsec in diameter, surrounding a smaller hot structure. As such a configuration of dust clouds would collapse in a time much shorter than the active phase of the AGN, this observation requires a continual input of kinetic energy to the cloud system from a source coexistent with the AGN.     

High-latitude controls of thermocline nutrients and low latitude biological productivity

The ocean's biological pump strips nutrients out of the surface waters and exports them into the thermocline and deep waters. If there were no return path of nutrients from deep waters, the biological pump would eventually deplete the surface waters and thermocline of nutrients; surface biological productivity would plummet. Here we make use of the combined distributions of silicic acid and nitrate to trace the main nutrient return path from deep waters by upwelling in the Southern Ocean and subsequent entrainment into subantarctic mode water. We show that the subantarctic mode water, which spreads throughout the entire Southern Hemisphere and North Atlantic Ocean, is the main source of nutrients for the thermocline. We also find that an additional return path exists in the northwest corner of the Pacific Ocean, where enhanced vertical mixing, perhaps driven by tides, brings abyssal nutrients to the surface and supplies them to the thermocline of the North Pacific. Our analysis has important implications for our understanding of large-scale controls on the nature and magnitude of low-latitude biological productivity and its sensitivity to climate change.     

Genetic basis of heterosis and inbreeding depression in rice （Oryza sativa L.）

The genetic basis of heterosis was studied through mid-parent, standard variety and better parent for 11 quantitative traits in 17 parental lines and their 10 selected hybrids in rice (Oryza sativa L.). The characters were plant height, days to flag leaf initiation, days to first panicle initiation, days to 100% flowering, panicle length, flag leaf length, days to maturity, number of fertile spikelet/panicle, number of effective tillers/hill, grain yield/10-hill, and 1000-grain weight. In general the hybrids performed significantly better than the respective parents. Significant heterosis was observed for most of the studied characters. Among the 10 hybrids, four hybrids viz., 17Ax45R, 25Ax37R, 27Ax39R, 31Ax47R, and 35Ax47R showed highest heterosis in 10-hill grain yield/10-hill. Inbreeding depression of F2 progeny was also studied for 11 characters of 10 hybrids. Both positive and negative inbreeding depression were found in many crosses for the studied characters, but none was found significant. Selection of good parents was found to be the most important for developing high yielding hybrid rice varieties.