Genetic structure of First Nation communities in the Pacific Northwest

This study presents genetic data for nine Native American populations from northern North America. Analyses of genetic variation focus on the Pacific Northwest (PNW). Using mitochondrial, Y chromosomal and autosomal DNA variants, we aim to more closely address the relationships of geography and language with present genetic diversity among the regional PNW Native American populations. Patterns of genetic diversity exhibited by the three genetic systems were consistent with our hypotheses, in that we expected genetic variation to be more strongly explained by geographic proximity than linguistic structure. Our findings were corroborated through a variety on analytic approaches, with the unrooted trees for the three genetic systems consistently separating inland from coastal PNW populations. Furthermore, the AMOVA tests support the trends exhibited by the unrooted trees, with geographic partitioning of PNW populations (FCT = 19.43%, p = 0.010 ± 0.009) accounting for over twice as much of the observed genetic variation compared with linguistic partitioning of the same populations (FCT = 9.15%, p = 0.193 ± 0.013). These findings demonstrate a consensus with previous PNW population studies examining the relationships of genome-wide variation, mitochondrial haplogroup frequencies, and skeletal morphology with geography and language

Entropic Uncertainty Relations in Quantum Physics

Uncertainty relations have become the trademark of quantum theory since they were formulated by Bohr and Heisenberg. This review covers various generalizations and extensions of the uncertainty relations in quantum theory that involve the R\'enyi and the Shannon entropies. The advantages of these entropic uncertainty relations are pointed out and their more direct connection to the observed phenomena is emphasized. Several remaining open problems are mentionedComment: 35 pages, review pape

Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease

Background Prostate cancer (PrCa) demonstrates a heterogeneous clinical presentation ranging from largely indolent to lethal. We sought to identify a signature of rare inherited variants that distinguishes between these two extreme phenotypes. Methods We sequenced germline whole exomes from 139 aggressive (metastatic, age of diagnosis < 60) and 141 non-aggressive (low clinical grade, age of diagnosis ≥60) PrCa cases. We conducted rare variant association analyses at gene and gene set levels using SKAT and Bayesian risk index techniques. GO term enrichment analysis was performed for genes with the highest differential burden of rare disruptive variants. Results Protein truncating variants (PTVs) in specific DNA repair genes were significantly overrepresented among patients with the aggressive phenotype, with BRCA2, ATM and NBN the most frequently mutated genes. Differential burden of rare variants was identified between metastatic and non-aggressive cases for several genes implicated in angiogenesis, conferring both deleterious and protective effects. Conclusions Inherited PTVs in several DNA repair genes distinguish aggressive from non-aggressive PrCa cases. Furthermore, inherited variants in genes with roles in angiogenesis may be potential predictors for risk of metastases. If validated in a larger dataset, these findings have potential for future clinical application

BUDHIES - III : the fate of HI and the quenching of galaxies in evolving environments

In a hierarchical Universe clusters grow via the accretion of galaxies from the field, groups and even other clusters. As this happens, galaxies can lose and/or consume their gas reservoirs via different mechanisms, eventually quenching their star formation. We explore the diverse environmental histories of galaxies through a multiwavelength study of the combined effect of ram-pressure stripping and group 'processing' in Abell 963, a massive growing cluster at z = 0.2 from the Blind Ultra Deep HI Environmental Survey (BUDHIES). We incorporate hundreds of new optical redshifts (giving a total of 566 cluster members), as well as Subaru and XMM-Newton data from LoCuSS, to identify substructures and evaluate galaxy morphology, star formation activity, and HI content (via HI deficiencies and stacking) out to 3 x R-200. We find that Abell 963 is being fed by at least seven groups, that contribute to the large number of passive galaxies outside the cluster core. More massive groups have a higher fraction of passive and HI-poor galaxies, while low-mass groups host younger (often interacting) galaxies. For cluster galaxies not associated with groups we corroborate our previous finding that HI gas (if any) is significantly stripped via ram-pressure during their first passage through the intracluster medium, and find mild evidence for a starburst associated with this event. In addition, we find an overabundance of morphologically peculiar and/or star-forming galaxies near the cluster core. We speculate that these arise from the effect of groups passing through the cluster (post-processing). Our study highlights the importance of environmental quenching and the complexity added by evolving environments.Peer reviewe