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Sender's message: Sepsis or genomics or altitude: JKB_daily1
Sent on Wednesday, 2014 December 17
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(sepsis[MeSH Terms] OR septic shock[MeSH Terms] OR altitude[MeSH Terms] OR genomics[MeSH Terms] OR genetics[MeSH Terms] OR retrotransposons[MeSH Terms] OR macrophage[MeSH Terms]) AND ("2009/8/8"[Publication Date] : "3000"[Publication Date]) AND (("Science"[Journal] OR "Nature"[Journal] OR "The New England journal of medicine"[Journal] OR "Lancet"[Journal] OR "Nature genetics"[Journal] OR "Nature medicine"[Journal]) OR (Hume DA[Author] OR Baillie JK[Author] OR Faulkner, Geoffrey J[Author]))View complete results in PubMed (results may change over time).
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| 1. | N Engl J Med. 2014 Nov 27;371(22):e34. doi: 10.1056/NEJMicm1314314.Chen CY1, Chen CJ. Free Article |
| PMID: 25427126 [PubMed - indexed for MEDLINE] |
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| 2. | Nature. 2014 Nov 13;515(7526):189-91. doi: 10.1038/515189a.Hyman S1. |
| PMID: 25391945 [PubMed - indexed for MEDLINE] |
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| 4. | Science. 2014 Nov 28;346(6213):1113-8. doi: 10.1126/science.aaa0114. Epub 2014 Nov 6.Seguin-Orlando A1, Korneliussen TS1, Sikora M1, Malaspinas AS1, Manica A2, Moltke I3, Albrechtsen A4, Ko A5, Margaryan A1, Moiseyev V6, Goebel T7, Westaway M5, Lambert D5, Khartanovich V6, Wall JD8, Nigst PR9, Foley RA10, Lahr MM11, Nielsen R12, Orlando L1, Willerslev E13.AbstractThe origin of contemporary Europeans remains contentious. We obtained a genome sequence from Kostenki 14 in European Russia dating from 38,700 to 36,200 years ago, one of the oldest fossils of anatomically modern humans from Europe. We find that Kostenki 14 shares a close ancestry with the 24,000-year-old Mal'ta boy from central Siberia, European Mesolithic hunter-gatherers, some contemporary western Siberians, and many Europeans, but not eastern Asians. Additionally, the Kostenki 14 genome shows evidence of shared ancestry with a population basal to all Eurasians that also relates to later European Neolithic farmers. We find that Kostenki 14 contains more Neandertal DNA that is contained in longer tracts than present Europeans. Our findings reveal the timing of divergence of western Eurasians and East Asians to be more than 36,200 years ago and that European genomic structure today dates back to the Upper Paleolithic and derives from a metapopulation that at times stretched from Europe to central Asia. Copyright © 2014, American Association for the Advancement of Science. |
| PMID: 25378462 [PubMed - indexed for MEDLINE] |
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| 5. | Nat Genet. 2014 Oct;46(10):1044. doi: 10.1038/ng.3099.Potter H1. |
| PMID: 25257081 [PubMed - indexed for MEDLINE] |
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| 6. | Nat Genet. 2014 Oct;46(10):1043. doi: 10.1038/ng.3115.[No authors listed] |
| PMID: 25257080 [PubMed - indexed for MEDLINE] |
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| 7. | Nat Genet. 2014 Oct;46(10):1140-6. doi: 10.1038/ng.3089. Epub 2014 Sep 14.Canna SW1, de Jesus AA2, Gouni S1, Brooks SR3, Marrero B2, Liu Y2, DiMattia MA4, Zaal KJ5, Sanchez GA6, Kim H2, Chapelle D6, Plass N6, Huang Y2, Villarino AV1, Biancotto A7, Fleisher TA8, Duncan JA9, O'Shea JJ1, Benseler S10, Grom A11, Deng Z3, Laxer RM12, Goldbach-Mansky R2.AbstractInflammasomes are innate immune sensors that respond to pathogen- and damage-associated signals with caspase-1 activation, interleukin (IL)-1β and IL-18 secretion, and macrophage pyroptosis. The discovery that dominant gain-of-function mutations in NLRP3 cause the cryopyrin-associated periodic syndromes (CAPS) and trigger spontaneous inflammasome activation and IL-1β oversecretion led to successful treatment with IL-1-blocking agents. Herein we report a de novo missense mutation (c.1009A > T, encoding p.Thr337Ser) affecting the nucleotide-binding domain of the inflammasome component NLRC4 that causes early-onset recurrent fever flares and macrophage activation syndrome (MAS). Functional analyses demonstrated spontaneous inflammasome formation and production of the inflammasome-dependent cytokines IL-1β and IL-18, with the latter exceeding the levels seen in CAPS. The NLRC4 mutation caused constitutive caspase-1 cleavage in cells transduced with mutant NLRC4 and increased production of IL-18 in both patient-derived and mutant NLRC4-transduced macrophages. Thus, we describe a new monoallelic inflammasome defect that expands the monogenic autoinflammatory disease spectrum to include MAS and suggests new targets for therapy. |
| PMID: 25217959 [PubMed - indexed for MEDLINE] |
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| 8. | Nat Genet. 2014 Oct;46(10):1089-96. doi: 10.1038/ng.3075. Epub 2014 Aug 24.Evans LM1, Slavov GT2, Rodgers-Melnick E1, Martin J3, Ranjan P4, Muchero W4, Brunner AM5, Schackwitz W3, Gunter L4, Chen JG4, Tuskan GA6, DiFazio SP1.AbstractForest trees are dominant components of terrestrial ecosystems that have global ecological and economic importance. Despite distributions that span wide environmental gradients, many tree populations are locally adapted, and mechanisms underlying this adaptation are poorly understood. Here we use a combination of whole-genome selection scans and association analyses of 544 Populus trichocarpa trees to reveal genomic bases of adaptive variation across a wide latitudinal range. Three hundred ninety-seven genomic regions showed evidence of recent positive and/or divergent selection and enrichment for associations with adaptive traits that also displayed patterns consistent with natural selection. These regions also provide unexpected insights into the evolutionary dynamics of duplicated genes and their roles in adaptive trait variation. |
| PMID: 25151358 [PubMed - indexed for MEDLINE] |
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| 9. | Nat Genet. 2014 Oct;46(10):1051-9. doi: 10.1038/ng.3073. Epub 2014 Aug 24.Gatza ML1, Silva GO2, Parker JS1, Fan C3, Perou CM4.AbstractElucidating the molecular drivers of human breast cancers requires a strategy that is capable of integrating multiple forms of data and an ability to interpret the functional consequences of a given genetic aberration. Here we present an integrated genomic strategy based on the use of gene expression signatures of oncogenic pathway activity (n = 52) as a framework to analyze DNA copy number alterations in combination with data from a genome-wide RNA-mediated interference screen. We identify specific DNA amplifications and essential genes within these amplicons representing key genetic drivers, including known and new regulators of oncogenesis. The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective. This general strategy has the potential to identify therapeutic targets within amplicons through an integrated use of genomic data sets. |
| PMID: 25151356 [PubMed - indexed for MEDLINE] |
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| 10. | Nature. 2014 Nov 13;515(7526):261-3. doi: 10.1038/nature13685. Epub 2014 Aug 20.Romiguier J1, Gayral P2, Ballenghien M3, Bernard A3, Cahais V3, Chenuil A4, Chiari Y5, Dernat R3, Duret L6, Faivre N3, Loire E3, Lourenco JM3, Nabholz B3, Roux C1, Tsagkogeorga G7, Weber AA4, Weinert LA8, Belkhir K3, Bierne N3, Glémin S3, Galtier N3.AbstractGenetic diversity is the amount of variation observed between DNA sequences from distinct individuals of a given species. This pivotal concept of population genetics has implications for species health, domestication, management and conservation. Levels of genetic diversity seem to vary greatly in natural populations and species, but the determinants of this variation, and particularly the relative influences of species biology and ecology versus population history, are still largely mysterious. Here we show that the diversity of a species is predictable, and is determined in the first place by its ecological strategy. We investigated the genome-wide diversity of 76 non-model animal species by sequencing the transcriptome of two to ten individuals in each species. The distribution of genetic diversity between species revealed no detectable influence of geographic range or invasive status but was accurately predicted by key species traits related to parental investment: long-lived or low-fecundity species with brooding ability were genetically less diverse than short-lived or highly fecund ones. Our analysis demonstrates the influence of long-term life-history strategies on species response to short-term environmental perturbations, a result with immediate implications for conservation policies. |
| PMID: 25141177 [PubMed - indexed for MEDLINE] |
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