On the Origin of Tibetans and Their Genetic Basis in Adapting High-Altitude Environments

Since their arrival in the Tibetan Plateau during the Neolithic Age, Tibetans have been well-adapted to extreme environmental conditions and possess genetic variation that reflect their living environment and migratory history. To investigate the origin of Tibetans and the genetic basis of adaptation in a rigorous environment, we genotyped 30 Tibetan individuals with more than one million SNP markers. Our findings suggested that Tibetans, together with the Yi people, were descendants of Tibeto-Burmans who diverged from ancient settlers of East Asia. The valleys of the Hengduan Mountain range may be a major migration route. We also identified a set of positively-selected genes that belong to functional classes of the embryonic, female gonad, and blood vessel developments, as well as response to hypoxia. Most of these genes were highly correlated with population-specific and beneficial phenotypes, such as high infant survival rate and the absence of chronic mountain sickness

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America

Background: Genetic counselling and testing for Lynch syndrome (LS) have recently been introduced in several Latin America countries. We aimed to characterize the clinical, molecular and mismatch repair (MMR) variants spectrum of patients with suspected LS in Latin America. Methods: Eleven LS hereditary cancer registries and 34 published LS databases were used to identify unrelated families that fulfilled the Amsterdam II (AMSII) criteria and/or the Bethesda guidelines or suggestive of a dominant colorectal (CRC) inheritance syndrome. Results: We performed a thorough investigation of 15 countries and identified 6 countries where germline genetic testing for LS is available and 3 countries where tumor testing is used in the LS diagnosis. The spectrum of pathogenic MMR variants included MLH1 up to 54%, MSH2 up to 43%, MSH6 up to 10%, PMS2 up to 3% and EPCAM up to 0.8%. The Latin America MMR spectrum is broad with a total of 220 different variants which 80% were private and 20% were recurrent. Frequent regions included exons 11 of MLH1 (15%), exon 3 and 7 of MSH2 (17 and 15%, respectively), exon 4 of MSH6 (65%), exons 11 and 13 of PMS2 (31% and 23%, respectively). Sixteen international founder variants in MLH1, MSH2 and MSH6 were identified and 41 (19%) variants have not previously been reported, thus representing novel genetic variants in the MMR genes. The AMSII criteria was the most used clinical criteria to identify pathogenic MMR carriers although microsatellite instability, immunohistochemistry and family history are still the primary methods in several countries where no genetic testing for LS is available yet. Conclusion: The Latin America LS pathogenic MMR variants spectrum included new variants, frequently altered genetic regions and potential founder effects, emphasizing the relevance implementing Lynch syndrome genetic testing and counseling in all of Latin America countries.Radium Hospital Foundation (Oslo, Norway) in the design of the study and collection, analysis, and interpretation of data and in writing the manuscript, Helse Sør-Øst (Norway) in the design of the study and collection, analysis, and interpretation of data and in writing the manuscript, the French Association Recherche contre le Cancer (ARC) in the analysis, and interpretation of data, the Groupement des Entreprises Françaises dans la Lutte contre le Cancer (Gefluc) in the analysis, and interpretation of data, the Association Nationale de la Recherche et de la Technologie (ANRT, CIFRE PhD fellowship to H.T.) in the analysis, and interpretation of data and by the OpenHealth Institute in the analysis, and interpretation of data. Barretos Cancer Hospital received financial support by FINEP-CT-INFRA (02/2010)info:eu-repo/semantics/publishedVersio

Forest biodiversity, ecosystem functioning and the provision of ecosystem services

Forests are critical habitats for biodiversity and they are also essential for the provision of a wide range of ecosystem services that are important to human well-being. There is increasing evidence that biodiversity contributes to forest ecosystem functioning and the provision of ecosystem services. Here we provide a review of forest ecosystem services including biomass production, habitat provisioning services, pollination, seed dispersal, resistance to wind storms, fire regulation and mitigation, pest regulation of native and invading insects, carbon sequestration, and cultural ecosystem services, in relation to forest type, structure and diversity. We also consider relationships between forest biodiversity and multifunctionality, and trade-offs among ecosystem services. We compare the concepts of ecosystem processes, functions and services to clarify their definitions. Our review of published studies indicates a lack of empirical studies that establish quantitative and causal relationships between forest biodiversity and many important ecosystem services. The literature is highly skewed; studies on provisioning of nutrition and energy, and on cultural services, delivered by mixed-species forests are under-represented. Planted forests offer ample opportunity for optimising their composition and diversity because replanting after harvesting is a recurring process. Planting mixed-species forests should be given more consideration as they are likely to provide a wider range of ecosystem services within the forest and for adjacent land uses. This review also serves as the introduction to this special issue of Biodiversity and Conservation on various aspects of forest biodiversity and ecosystem services

Iron Behaving Badly: Inappropriate Iron Chelation as a Major Contributor to the Aetiology of Vascular and Other Progressive Inflammatory and Degenerative Diseases

The production of peroxide and superoxide is an inevitable consequence of aerobic metabolism, and while these particular "reactive oxygen species" (ROSs) can exhibit a number of biological effects, they are not of themselves excessively reactive and thus they are not especially damaging at physiological concentrations. However, their reactions with poorly liganded iron species can lead to the catalytic production of the very reactive and dangerous hydroxyl radical, which is exceptionally damaging, and a major cause of chronic inflammation. We review the considerable and wide-ranging evidence for the involvement of this combination of (su)peroxide and poorly liganded iron in a large number of physiological and indeed pathological processes and inflammatory disorders, especially those involving the progressive degradation of cellular and organismal performance. These diseases share a great many similarities and thus might be considered to have a common cause (i.e. iron-catalysed free radical and especially hydroxyl radical generation). The studies reviewed include those focused on a series of cardiovascular, metabolic and neurological diseases, where iron can be found at the sites of plaques and lesions, as well as studies showing the significance of iron to aging and longevity. The effective chelation of iron by natural or synthetic ligands is thus of major physiological (and potentially therapeutic) importance. As systems properties, we need to recognise that physiological observables have multiple molecular causes, and studying them in isolation leads to inconsistent patterns of apparent causality when it is the simultaneous combination of multiple factors that is responsible. This explains, for instance, the decidedly mixed effects of antioxidants that have been observed, etc...Comment: 159 pages, including 9 Figs and 2184 reference

Measurement of the branching fraction ratios and CP asymmetries in B-→ D0 CP K-decays

We present a preliminary study of $B^- \to D^0_{CP} \pi^-$ and $B^- \to D^0_{CP} K^-$ decays, with the $D^0_{CP}$ reconstructed in the CP-odd eigenstates $K_s \pi^0$, $K_s \omega$, in the CP-even eigenstates $K^+ K^-$, $\pi^+ \pi^-$, and in the (non-CP) flavor eigenstate $K^\mp \pi^\pm$. Using a sample of about 382 million Y(4S) decays into BBbar pairs, collected with the BABAR detector operating at the PEP-II asymmetric-energy B Factory at SLAC, we measure the ratios of the branching fractions R_CP+- and the direct CP asymmetries A_CP+-. The results are: R_CP- = 0.81 \pm 0.10 (stat) \pm 0.05 (syst) R_CP+ = 1.07 \pm 0.10 (stat) \pm 0.04 (syst) A_CP- = -0.19 \pm 0.12 (stat) \pm 0.02 (syst) A_CP+ = 0.35 \pm 0.09 (stat) \pm 0.05 (syst

Determinations of vertical bar V-ub vertical bar from inclusive semileptonic B decays with reduced model dependence

We report two novel determinations of vertical bar V-ub vertical bar with reduced model dependence, based on measurements of the mass distribution of the hadronic system in semileptonic B decays. Events are selected by fully reconstructing the decay of one B meson and identifying a charged lepton from the decay of the other B meson from Y(4S) -> B (B) over bar events. In one approach, we combine the inclusive (B) over bar -> X(u)l (v) over bar rate, integrated up to a maximum hadronic mass m(X) X-s gamma photon energy spectrum. We obtain vertical bar V-ub vertical bar = (4.43 +/- 0.38(stat) +/- 0.25(syst) +/- 0.29(theo)) x 10(-3). In another approach we measure the total (B) over bar -> X(u)l (v) over bar rate over the full phase space and find vertical bar V-ub vertical bar = 3.84 +/- 0.70(stat) +/- 0.30(syst) +/- 0.10(theo)) x 10(-3)

Observation of a Charmed Baryon Decaying to D0p at a Mass Near 2.94 GeV/c2

A search for charmed baryons decaying to D 0 p reveals two states: the Λ c ( 2880 ) + baryon and a previously unobserved state at a mass of [ 2939.8 ± 1.3 ( stat ) ± 1.0 ( syst ) ]     MeV / c 2 and with an intrinsic width of [ 17.5 ± 5.2 ( stat ) ± 5.9 ( syst ) ]     MeV . Consistent and significant signals are observed for the K − π + and K − π + π − π + decay modes of the D 0 in 287     fb − 1 annihilation data recorded by the BABAR detector at a center-of-mass energy of 10.58 GeV. There is no evidence in the D + p spectrum of doubly charged partners. The mass and intrinsic width of the Λ c ( 2880 ) + baryon and relative yield of the two baryons are also measured

Observation of CP violation in B ->eta/K-0 decays

We present measurements of the time-dependent CP-violation parameters S and C in B-0 -> eta K-'(0) decays. The data sample corresponds to 384 x 10(6) B (B) over bar pairs produced by e(+)e(-) annihilation at the Upsilon(4S). The results are S = 0.58 +/- 0.10 +/- 0.03 and C = -0.16 +/- 0.07 +/- 0.03. We observe mixing-induced CP violation with a significance of 5.5 standard deviations in this b -> s penguin dominated mode

Dalitz plot analysis of the decay B±→K±K±K∓

We analyze the three-body charmless decay B-+/-->(KKK -/+)-K-+/--K-+/- using a sample of 226.0 +/- 2.5 million B (B) over bar pairs collected by the BABAR detector. We measure the total branching fraction and CP asymmetry to be B=(35.2 +/- 0.9 +/- 1.6)x10(-6) and A(CP)=(-1.7 +/- 2.6 +/- 1.5)%. We fit the Dalitz plot distribution using an isobar model and measure the magnitudes and phases of the decay coefficients. We find no evidence of CP violation for the individual components of the isobar model. The decay dynamics is dominated by the K+K- S-wave, for which we perform a partial-wave analysis in the region m(K+K-)< 2 GeV/c(2). Significant production of the f(0)(980) resonance, and of a spin zero state near 1.55 GeV/c(2) are required in the isobar model description of the data. The partial-wave analysis supports this observation.This work is supported by DOE and NSF (USA), NSERC (Canada), IHEP (China), CEA and CNRS-IN2P3 (France), BMBF and DFG (Germany), INFN (Italy), FOM (The Netherlands), NFR (Norway), MIST (Russia), and PPARC (United Kingdom). Individuals have received support from CONACyT (Mexico), Marie Curie EIF (European Union), the A. P. Sloan Foundation, the Research Corporation, and the Alexander von Humboldt Foundation

Branching fraction measurements of B+->rho(+)gamma, B-0 ->rho(0)gamma, and B-0 ->omega gamma

We present a study of the decays B+->rho(+)gamma, B-0 ->rho(0)gamma, and B-0 ->omega gamma. The analysis is based on data containing 347x10(6) B (B) over bar events recorded with the BABAR detector at the PEP-II asymmetric B factory. We measure the branching fractions B(B+->rho(+)gamma)=(1.10(-0.33)(+0.37)+/- 0.09)x10(-6) and B(B-0 ->rho(0)gamma)=(0.79(-0.20)(+0.22)+/- 0.06)x10(-6), and set a 90% C.L. upper limit B(B-0 ->omega gamma)(rho/omega)gamma)=(1.25(-0.24)(+0.25)+/- 0.09)x10(-6), from which we determine vertical bar V-td/V-ts vertical bar=0.200(-0.020)(+0.021)+/- 0.015, where the first uncertainty is experimental and the second is theoretical