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Angelina García Maia Pauro Rodrigo Nores Claudio M. Bravi Darío A. Demarchi 《American journal of physical anthropology》2012,149(4):583-590
We analyzed the patterns of variation of haplogroup D1 in central Argentina, including new data and published information from other populations of South America. Almost 28% (107/388) of the individuals sampled in the region belong to haplogroup D1, whereas more than 52% of them correspond to the recently described subhaplogroup D1j (Bodner et al.: Genome Res 22 (2012) 811–820), defined by the presence of additional transitions at np T152C–C16242T–T16311C to the nodal D1 motif. This lineage was found at high frequencies across a wide territory with marked geographical–ecological differences. Additionally, 12 individuals present the mutation C16187T that defines the recently named subhaplogroup D1g (Bodner et al.: Genome Res 22 (2012) 811–820), previously described in populations of Patagonia and Tierra del Fuego. Based on our results and additional data already published, we postulate that the most likely origin of subhaplogroup D1j is the region of Sierras Pampeanas, which occupies the center and part of the northwestern portion of Argentina. The extensive yet restricted geographical distribution, the relatively large internal diversity, and the absence or low incidence of D1j in other regions of South America suggest the existence of an ancient metapopulation covering the Sierras Pampeanas, being this lineage its genetic signature. Further support for a scenario of local origin for D1j in the Sierras Pampeanas stems from the fact that early derivatives from a putative ancestral lineage carrying the transitions T16311C–T152C have only been found in this region, supporting the hypothesis that it might represent an ancestral motif previous to the appearance of D1j‐specific change C16242T. © 2012 Wiley Periodicals, Inc. 相似文献
84.
Siamak Ravanbakhsh Philip Liu Trent C. Bjordahl Rupasri Mandal Jason R. Grant Michael Wilson Roman Eisner Igor Sinelnikov Xiaoyu Hu Claudio Luchinat Russell Greiner David S. Wishart 《PloS one》2015,10(5)
Many diseases cause significant changes to the concentrations of small molecules (a.k.a. metabolites) that appear in a person’s biofluids, which means such diseases can often be readily detected from a person’s “metabolic profile"—i.e., the list of concentrations of those metabolites. This information can be extracted from a biofluids Nuclear Magnetic Resonance (NMR) spectrum. However, due to its complexity, NMR spectral profiling has remained manual, resulting in slow, expensive and error-prone procedures that have hindered clinical and industrial adoption of metabolomics via NMR. This paper presents a system, BAYESIL, which can quickly, accurately, and autonomously produce a person’s metabolic profile. Given a 1D 1H
NMR spectrum of a complex biofluid (specifically serum or cerebrospinal fluid), BAYESIL can automatically determine the metabolic profile. This requires first performing several spectral processing steps, then matching the resulting spectrum against a reference compound library, which contains the “signatures” of each relevant metabolite. BAYESIL views spectral matching as an inference problem within a probabilistic graphical model that rapidly approximates the most probable metabolic profile. Our extensive studies on a diverse set of complex mixtures including real biological samples (serum and CSF), defined mixtures and realistic computer generated spectra; involving > 50 compounds, show that BAYESIL can autonomously find the concentration of NMR-detectable metabolites accurately (~ 90% correct identification and ~ 10% quantification error), in less than 5 minutes on a single CPU. These results demonstrate that BAYESIL is the first fully-automatic publicly-accessible system that provides quantitative NMR spectral profiling effectively—with an accuracy on these biofluids that meets or exceeds the performance of trained experts. We anticipate this tool will usher in high-throughput metabolomics and enable a wealth of new applications of NMR in clinical settings. BAYESIL is accessible at http://www.bayesil.ca. 相似文献
85.
Lino Ometto Mingai Li Luisa Bresadola Enrico Barbaro Markus Neteler Claudio Varotto 《PloS one》2015,10(5)
Species evolution depends on numerous and distinct forces, including demography and natural selection. For example, local adaptation and population structure affect the evolutionary history of species living along environmental clines. This is particularly relevant in plants, which are often characterized by limited dispersal ability and the need to respond to abiotic and biotic stress factors specific to the local environment. Here we study the demographic history and the possible existence of local adaptation in two related species of Brassicaceae, Cardamine impatiens and Cardamine resedifolia, which occupy separate habitats along the elevation gradient. Previous genome-wide analyses revealed the occurrence of distinct selective pressures in the two species, with genes involved in cold response evolving particularly fast in C. resedifolia. In this study we surveyed patterns of molecular evolution and genetic variability in a set of 19 genes, including neutral and candidate genes involved in cold response, across 10 populations each of C. resedifolia and C. impatiens from the Italian Alps (Trentino). We inferred the population structure and demographic history of the two species, and tested the occurrence of signatures of local adaptation in these genes. The results indicate that, despite a slightly higher population differentiation in C. resedifolia than in C. impatiens, both species are only weakly structured and that populations sampled at high altitude experience less gene flow than low-altitude ones. None of the genes showed signatures of positive selection, suggesting that they do not seem to play relevant roles in the current evolutionary processes of adaptation to alpine environments of these species. 相似文献
86.
To explore the co-evolution of friendship tie choice and alcohol use behavior among 1,284 adolescents from 12 small schools and 976 adolescents from one big school sampled in the National Longitudinal Study of Adolescent to Adult Health (AddHealth), we apply a Stochastic Actor-Based (SAB) approach implemented in the R-based Simulation Investigation for Empirical Network Analysis (RSiena) package. Our results indicate the salience of both peer selection and peer influence effects for friendship tie choice and adolescent drinking behavior. Concurrently, the main effect models indicate that parental monitoring and the parental home drinking environment affected adolescent alcohol use in the small school sample, and that parental home drinking environment affected adolescent drinking in the large school sample. In the small school sample, we detect an interaction between the parental home drinking environment and choosing friends that drink as they multiplicatively affect friendship tie choice. Our findings suggest that future research should investigate the synergistic effects of both peer and parental influences for adolescent friendship tie choices and drinking behavior. And given the tendency of adolescents to form ties with their friends'' friends, and the evidence of local hierarchy in these networks, popular youth who do not drink may be uniquely positioned and uniquely salient as the highest rank of the hierarchy to cause anti-drinking peer influences to diffuse down the social hierarchy to less popular youth. As such, future interventions should harness prosocial peer influences simultaneously with strategies to increase parental support and monitoring among parents to promote affiliation with prosocial peers. 相似文献
87.
Jose Bras Isabel Alonso Clara Barbot Maria?Manuela Costa Lee Darwent Tatiana Orme Jorge Sequeiros John Hardy Paula Coutinho Rita Guerreiro 《American journal of human genetics》2015,96(3):474-479
Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used homozygosity mapping and exome sequencing to study a cohort of nine Portuguese families who were identified during a nationwide, population-based, systematic survey as displaying a consistent phenotype of recessive ataxia with oculomotor apraxia (AOA). The integration of data from these analyses led to the identification of the same homozygous PNKP (polynucleotide kinase 3′-phosphatase) mutation, c.1123G>T (p.Gly375Trp), in three of the studied families. When analyzing this particular gene in the exome sequencing data from the remaining cohort, we identified homozygous or compound-heterozygous mutations in five other families. PNKP is a dual-function enzyme with a key role in different pathways of DNA-damage repair. Mutations in this gene have previously been associated with an autosomal-recessive syndrome characterized by microcephaly; early-onset, intractable seizures; and developmental delay (MCSZ). The finding of PNKP mutations associated with recessive AOA extends the phenotype associated with this gene and identifies a fourth locus that causes AOA. These data confirm that MCSZ and some forms of ataxia share etiological features, most likely reflecting the role of PNKP in DNA-repair mechanisms. 相似文献
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Albani Alessandro De Liberato Claudio Wahid Isra Berrilli Federica Riley Erin Phelps Cardeti Giusy Ngakan Putu Oka Carosi Monica 《International journal of primatology》2019,40(6):671-686
International Journal of Primatology - Information on parasite biodiversity and abundance can improve our understanding of parasitic infections on endangered wildlife, as parasites can affect host... 相似文献
90.
Light-induced nitration pathways of phenols are important processes for the transformation of pesticide-derived secondary pollutants into toxic derivatives in surface waters and for the formation of phytotoxic compounds in the atmosphere. Moreover, phenols can be used as ˙NO(2) probes in irradiated aqueous solutions. This paper shows that the nitration of 4-chlorophenol (4CP) into 2-nitro-4-chlorophenol (NCP) in the presence of irradiated nitrate and nitrite in aqueous solution involves the radical ˙NO(2). The experimental data allow exclusion of an alternative nitration pathway by ˙OH + ˙NO(2). Quantum mechanical calculations suggest that the nitration of both phenol and 4CP involves, as a first pathway, the abstraction of the phenolic hydrogen by ˙NO(2), which yields HNO(2) and the corresponding phenoxy radical. Reaction of phenoxyl with another ˙NO(2) follows to finally produce the corresponding nitrated phenol. Such a pathway also correctly predicts that 4CP undergoes nitration more easily than phenol, because the ring Cl atom increases the acidity of the phenolic hydrogen of 4CP. This favours the H-abstraction process to give the corresponding phenoxy radical. In contrast, an alternative nitration pathway that involves ˙NO(2) addition to the ring followed by H-abstraction by oxygen (or by ˙NO(2) or ˙OH) is energetically unfavoured and erroneously predicts faster nitration for phenol than for 4CP. 相似文献