Catálogo de publicaciones - revistas

<jats:p>We examined 454,712 exomes for genes associated with a wide spectrum of complex traits and common diseases and observed that rare, penetrant mutations in genes implicated by genome-wide association studies confer ~10-fold larger effects than common variants in the same genes. Consequently, an individual at the phenotypic extreme and at the greatest risk for severe, early-onset disease is better identified by a few rare penetrant variants than by the collective action of many common variants with weak effects. By combining rare variants across phenotype-associated genes into a unified genetic risk model, we demonstrate superior portability across diverse global populations compared with common-variant polygenic risk scores, greatly improving the clinical utility of genetic-based risk prediction.</jats:p>

<jats:p> Hybridization is widely recognized as promoting both species and phenotypic diversity. However, its role in mammalian evolution is rarely examined. We report historical hybridization among a group of snub-nosed monkeys ( <jats:italic>Rhinopithecus</jats:italic> ) that resulted in the origin of a hybrid species. The geographically isolated gray snub-nosed monkey <jats:italic>Rhinopithecus brelichi</jats:italic> shows a stable mixed genomic ancestry derived from the golden snub-nosed monkey ( <jats:italic>Rhinopithecus roxellana</jats:italic> ) and the ancestor of black-white ( <jats:italic>Rhinopithecus bieti</jats:italic> ) and black snub-nosed monkeys ( <jats:italic>Rhinopithecus strykeri</jats:italic> ). We further identified key genes derived from the parental lineages, respectively, that may have contributed to the mosaic coat coloration of <jats:italic>R. brelichi</jats:italic> , which likely promoted premating reproductive isolation of the hybrid from parental lineages. Our study highlights the underappreciated role of hybridization in generating species and phenotypic diversity in mammals. </jats:p>

<jats:p>The biological mechanisms that underpin primate social evolution remain poorly understood. Asian colobines display a range of social organizations, which makes them good models for investigating social evolution. By integrating ecological, geological, fossil, behavioral, and genomic analyses, we found that colobine primates that inhabit colder environments tend to live in larger, more complex groups. Specifically, glacial periods during the past 6 million years promoted the selection of genes involved in cold-related energy metabolism and neurohormonal regulation. More-efficient dopamine and oxytocin pathways developed in odd-nosed monkeys, which may have favored the prolongation of maternal care and lactation, increasing infant survival in cold environments. These adaptive changes appear to have strengthened interindividual affiliation, increased male-male tolerance, and facilitated the stepwise aggregation from independent one-male groups to large multilevel societies.</jats:p>

<jats:p> Baboons (genus <jats:italic>Papio</jats:italic> ) are a morphologically and behaviorally diverse clade of catarrhine monkeys that have experienced hybridization between phenotypically and genetically distinct phylogenetic species. We used high-coverage whole-genome sequences from 225 wild baboons representing 19 geographic localities to investigate population genomics and interspecies gene flow. Our analyses provide an expanded picture of evolutionary reticulation among species and reveal patterns of population structure within and among species, including differential admixture among conspecific populations. We describe the first example of a baboon population with a genetic composition that is derived from three distinct lineages. The results reveal processes, both ancient and recent, that produced the observed mismatch between phylogenetic relationships based on matrilineal, patrilineal, and biparental inheritance. We also identified several candidate genes that may contribute to species-specific phenotypes. </jats:p>

<jats:p> We offer our thanks to the authors for their thoughtful comments. Cui, Gong, Hannig, and Hoffman propose a valuable improvement to our method of estimating lost entitlements due to data error. Because we don’t have access to the unknown, “true” number of children in poverty, our paper simulates data error by drawing counterfactual estimates from a normal distribution around the official, published poverty estimates, which we use to calculate lost entitlements relative to the official allocation of funds. But, if we make the more realistic assumption that the published estimates are themselves normally distributed around the “true” number of children in poverty, Cui <jats:italic>et al</jats:italic> .’s proposed framework allows us to reliably estimate lost entitlements relative to the unknown, ideal allocation of funds—what districts would have received if we knew the “true” number of children in poverty. </jats:p>

<jats:p>Deep cores fulfill 60-year-old quest and could yield science bonanza</jats:p>

<jats:p>Civilian programs take a back seat to defense in averting default</jats:p>