g_{rho sigma gamma} coupling constant in light cone QCD

The coupling constant g_{rho sigma gamma} is determined from light cone QCD sum rules. A comparison of our result with the ones existing in literature is presented.Comment: 7 pp, 2 figures (postscript formatted), LaTex formatte

A Green's function approach to transmission of massless Dirac fermions in graphene through an array of random scatterers

We consider the transmission of massless Dirac fermions through an array of short range scatterers which are modeled as randomly positioned $\delta$- function like potentials along the x-axis. We particularly discuss the interplay between disorder-induced localization that is the hallmark of a non-relativistic system and two important properties of such massless Dirac fermions, namely, complete transmission at normal incidence and periodic dependence of transmission coefficient on the strength of the barrier that leads to a periodic resonant transmission. This leads to two different types of conductance behavior as a function of the system size at the resonant and the off-resonance strengths of the delta function potential. We explain this behavior of the conductance in terms of the transmission through a pair of such barriers using a Green's function based approach. The method helps to understand such disordered transport in terms of well known optical phenomena such as Fabry Perot resonances.Comment: 22 double spaced single column pages. 15 .eps figure

Hybrid speciation driven by multilocus introgression of ecological traits

Hybridization allows adaptations to be shared among lineages and may trigger the evolution of new species1,2. However, convincing examples of homoploid hybrid speciation remain rare because it is challenging to demonstrate that hybridization was crucial in generating reproductive isolation3. Here we combine population genomic analysis with quantitative trait locus mapping of species-specific traits to examine a case of hybrid speciation in Heliconius butterflies. We show that Heliconius elevatus is a hybrid species that is sympatric with both parents and has persisted as an independently evolving lineage for at least 180,000 years. This is despite pervasive and ongoing gene flow with one parent, Heliconius pardalinus, which homogenizes 99% of their genomes. The remaining 1% introgressed from the other parent, Heliconius melpomene, and is scattered widely across the H. elevatus genome in islands of divergence from H. pardalinus. These islands contain multiple traits that are under disruptive selection, including colour pattern, wing shape, host plant preference, sex pheromones and mate choice. Collectively, these traits place H. elevatus on its own adaptive peak and permit coexistence with both parents. Our results show that speciation was driven by introgression of ecological traits, and that speciation with gene flow is possible with a multilocus genetic architecture

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify the non-coding RNA RNU4-2 as a syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome2. We identify an 18 bp region of RNU4-2 mapping to two structural elements in the U4/U6 snRNA duplex (the T-loop and Stem III) that is severely depleted of variation in the general population, but in which we identify heterozygous variants in 115 individuals with NDD. Most individuals (77.4%) have the same highly recurrent single base insertion (n.64_65insT). In 54 individuals where it could be determined, the de novo variants were all on the maternal allele. We demonstrate that RNU4-2 is highly expressed in the developing human brain, in contrast to RNU4-1 and other U4 homologs. Using RNA-sequencing, we show how 5’ splice site usage is systematically disrupted in individuals with RNU4-2 variants, consistent with the known role of this region during spliceosome activation. Finally, we estimate that variants in this 18 bp region explain 0.4% of individuals with NDD. This work underscores the importance of non-coding genes in rare disorders and will provide a diagnosis to thousands of individuals with NDD worldwide

Role of Up-Front Primary Tumor Resection and Tumor Sidedness in the Survival of Synchronous Metastatic Colon Cancer Patients

INTRODUCTION: Uncertainty exists about a possible survival benefit of primary tumor resection (PTR) in synchronous metastatic colon cancer (mCC). Since sidedness of the primary tumor is regarded as an important prognostic factor, our objective was to study the interaction between PTR and sidedness in synchronous mCC. METHODS: In this retrospective study, we used data from 2 first-line phase 3 randomized controlled trials (RCTs). A mixed Cox regression model was used to study the multiplicative interaction between PTR and sidedness. We adjusted for age, treatment arm, WHO performance status, number of affected organs by metastases, serum lactate dehydrogenase, and year of enrollment. RESULTS: We found that PTR is associated with better survival in both right-sided (hazard ratio [HR] 0.59 [95% confidence interval 0.42-0.8 2]) and left-sided mCC (HR 0.70 [95% confidence interval 0.52-0.93]). The interaction between PTR and sidedness was not significant (p = 0.45). CONCLUSION: Our data suggest that the prognostic value of PTR is independent of sidedness. Validation of these results will be performed in ongoing RCTs