Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

<p>Abstract</p> <p>Background</p> <p>Anophthalmia/microphthalmia (A/M) is caused by mutations in several different transcription factors, but mutations in each causative gene are relatively rare, emphasizing the need for a testing approach that screens multiple genes simultaneously. We used next-generation sequencing to screen 15 A/M patients for mutations in 9 pathogenic genes to evaluate this technology for screening in A/M.</p> <p>Methods</p> <p>We used a pooled sequencing design, together with custom single nucleotide polymorphism (SNP) calling software. We verified predicted sequence alterations using Sanger sequencing.</p> <p>Results</p> <p>We verified three mutations - c.542delC in S<it>OX2</it>, resulting in p.Pro181Argfs*22, p.Glu105X in <it>OTX2 </it>and p.Cys240X in <it>FOXE3</it>. We found several novel sequence alterations and SNPs that were likely to be non-pathogenic - p.Glu42Lys in <it>CRYBA4</it>, p.Val201Met in <it>FOXE3 </it>and p.Asp291Asn in <it>VSX2</it>. Our analysis methodology gave one false positive result comprising a mutation in <it>PAX6 </it>(c.1268A > T, predicting p.X423LeuextX*15) that was not verified by Sanger sequencing. We also failed to detect one 20 base pair (bp) deletion and one 3 bp duplication in <it>SOX2</it>.</p> <p>Conclusions</p> <p>Our results demonstrated the power of next-generation sequencing with pooled sample groups for the rapid screening of candidate genes for A/M as we were correctly able to identify disease-causing mutations. However, next-generation sequencing was less useful for small, intragenic deletions and duplications. We did not find mutations in 10/15 patients and conclude that there is a need for further gene discovery in A/M.</p

Possible robust insulator-superconductor transition on solid inert gas and other substrates

We present observations of the insulator-superconductor transition in ultrathin films of Bi on amorphous quartz, quartz coated with Ge, and for the first time, solid xenon condensed on quartz. The relative permeability $\epsilon_r$ ranges from 1.5 for Xe to 15 for Ge. Though we find screening effects as expected, the I-S transition is robust, and unmodified by the substrate. The resistance separatrix is found to be close to h/4e^2 and the crossover thickness close to $\rm 25 \AA$ for all substrates. I-V studies and Aslamazov-Larkin analyses indicate superconductivity is inhomogeneous. The transition can be understood in terms of a percolation model.Comment: accepted in Physical Review

A New (Old), Invasive Ant in the Hardwood Forests of Eastern North America and Its Potentially Widespread Impacts

Biological invasions represent a serious threat for the conservation of biodiversity in many ecosystems. While many social insect species and in particular ant species have been introduced outside their native ranges, few species have been successful at invading temperate forests. In this study, we document for the first time the relationship between the abundance of the introduced ant, Pachycondyla chinensis, in mature forests of North Carolina and the composition, abundance and diversity of native ant species using both a matched pair approach and generalized linear models. Where present, P. chinensis was more abundant than all native species combined. The diversity and abundance of native ants in general and many individual species were negatively associated with the presence and abundance of P. chinensis. These patterns held regardless of our statistical approach and across spatial scales. Interestingly, while the majority of ant species was strongly and negatively correlated with the abundance and presence of P. chinensis, a small subset of ant species larger than P. chinensis was either as abundant or even more abundant in invaded than in uninvaded sites. The large geographic range of this ant species combined with its apparent impact on native species make it likely to have cascading consequences on eastern forests in years to come, effects mediated by the specifics of its life history which is very different from those of other invasive ants. The apparent ecological impacts of P. chinensis are in addition to public health concerns associated with this species due to its sometimes, deadly sting

U.S. Barley Industry Statistics: 1950-76

Barley is one of the four major feed grains grown in the United States. However, if present trends continue, it will be produced primarily for malting purposes within the next 10 to 20 years. Demand for malt is increasing at an annual rate of 3 to 5 percent while the demand for barley for livestock feed is largely residual. As this change in primary demand occurs, barley production will require new policy considerations. These tables and references are a supplement to an earlier report U.S. BARLEY INDUSTRY (AER-395)

U.S. Barley Industry Statistics: 1950-76

Barley is one of the four major feed grains grown in the United States. However, if present trends continue, it will be produced primarily for malting purposes within the next 10 to 20 years. Demand for malt is increasing at an annual rate of 3 to 5 percent while the demand for barley for livestock feed is largely residual. As this change in primary demand occurs, barley production will require new policy considerations. These tables and references are a supplement to an earlier report U.S. BARLEY INDUSTRY (AER-395)