Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Aicardi-Goutières syndrome (AGS) presents as a severe neurological brain disease and is a genetic mimic of the sequelae of transplacentally acquired viral infection. Evidence exists for a perturbation of innate immunity as a primary pathogenic event in the disease phenotype. Here, we show that TREX1, encoding the major mammalian 3' --> 5' DNA exonuclease, is the AGS1 gene, and AGS-causing mutations result in abrogation of TREX1 enzyme activity. Similar loss of function in the Trex1(-/-) mouse leads to an inflammatory phenotype. Our findings suggest an unanticipated role for TREX1 in processing or clearing anomalous DNA structures, failure of which results in the triggering of an abnormal innate immune response.     

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.     

论设计在可持续性消费中的作用

可持续性消费的研究已从对技术的关注转移到了对生活方式转变的探索,在对可持续性消费研究领域——环境政策、消费心理学和消费社会学中对这种转变的研究基础上,着重探讨了这些研究在设计研究和实践上的反映,以此论证了设计可以在可持续性消费中发挥重要作用。     

Novel pathway for assimilation of dimethylsulphoniopropionate widespread in marine bacteria

Dimethylsulphoniopropionate (DMSP) accounts for up to 10% of carbon fixed by marine phytoplankton in ocean surface waters, producing an estimated 11.7-103?Tmol S per year, most of which is processed by marine bacteria through the demethylation/demethiolation pathway. This pathway releases methanethiol (MeSH) instead of the climatically active gas dimethylsulphide (DMS) and enables marine microorganisms to assimilate the reduced sulphur. Despite recognition of this critical microbial transformation for over two decades, the biochemical pathway and enzymes responsible have remained unidentified. Here we show that three new enzymes related to fatty acid β-oxidation constitute the pathway that assimilates methylmercaptopropionate (MMPA), the first product of DMSP demethylation/demethiolation, and that two previously unknown coenzyme A (CoA) derivatives, 3-methylmercaptopropionyl-CoA (MMPA-CoA) and methylthioacryloyl-CoA (MTA-CoA), are formed as novel intermediates. A member of the marine roseobacters, Ruegeria pomeroyi DSS-3, requires the MMPA-CoA pathway for MMPA assimilation and MeSH production. This pathway and the ability to produce MeSH from MMPA are present in diverse bacteria, and the ubiquitous SAR11 clade bacterium Pelagibacter ubique possesses enzymes for at least the first two steps. Analysis of marine metagenomic data indicates that the pathway is widespread among bacterioplankton in the ocean surface waters, making it one of the most important known routes for acquisition of reduced carbon and sulphur by surface ocean heterotrophs.     

Feeding behavior and performance of a rabbitbrush leaf-beetle ( Trirhabda lewisii ) feeding on Chrysothamnus nauseosus regrwoth after fire

Fire often positively affects the growth and nutrient content of plants regrowing after a burn. These changes have been associated with preferential feeding by herbivores in burned areas. In this study in southeastern Wyoming, Chrysothamnus nauseosus Pursh (rubber rabbitbrush) regrowing after a fire produced new shoots with a distinct growth form. Shoots were longer than those on unburned control sites and had longer leaves with longer internodes between leaves. We conducted feeding trials to detect whether C. nauseosus shoots regrowing after fire were nutritionally superior to shoots from unburned plants for the specialist leaf beetle, Trirhabda lewisii Crotch (Coleoptera: Chrysomelidae). We also measured C:N ratios and nitrogen and water contents of leaves from burned and unburned plants. Trirhabda lewisii adults preferred shoots from burned plants when given a choice. The beetles ate similar amounts of burned and unburned plants when fed only a single type. Females that were fed either burned or unburned plants did not differ in number of eggs laid. Chemical analyses revealed no significant differences in nitrogen or water content of leaves from burned versus unburned plants. Carbon-to-nitrogen ratio of burned plants was marginally lower compared with unburned plants. In contrast to previous studies, which suggest that herbivore attraction to burned areas leads to enhanced performance, our study shows that performance is not necessarily enhanced after fire.     

Environmental site characteristics and incidence of chokecherry black knot in Utah

Normal 0 false false false EN-US X-NONE X-NONE MicrosoftInternetExplorer4 st1\:*{behavior:url(#ieooui) } /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;} Black knot disease of chokecherries, induced by Dibotryon morbosum (Schw.) Th. & Syd., is widely distributed in Utah. The incidence of black knot was measured by determining the ratio of total black knot gall length to total stem length of plants and then expressing that value as a percentage of diseased stems in the sample plot. The environmental site factors measured were elevation, exposure, slope, soil pH, soil depth, distance to surface water, plant moisture stress, and associated vegetation. Numerical values were determined for each of these variables at each of 18 randomly located plots. Correlation coefficients for plant moisture stress and soil temperature were –.439 (p = .065) and –.440 (p = .055). Multiple regression analyses using plant moisture stress and soil temperature gave a regression coefficient of –.641 (p = .05). As plant moisture stress and soil temperature decreased, incidence of black knot increased.        

Summer habitat use by Columbian Sharp-tailed Grouse in western Idaho

We studied summer habitat use by Columbian Sharp-tailed Grouse ( Tympanuchus phasianellus columbianus ) in western Idaho during 1983-85. Vegetative and topographic measurements were recorded at 716 locations of 15 radio-tagged grouse and at 180 random sites within the major vegetation/cover types in the study area. The mean size of summer home ranges was 1.87 ± 1.14 km 2 . Of eight cover types identified in the study area, individual grouse used the big sagebrush Artemisia tridentata ) cover type more than or in proportion to availability, the low sagebrush ( A. arbuscula ) in proportion to availability, and avoided the shrubby eriogonum ( Eriogonum spp.) type. Characteristics of the big sagebrush cover type that Sharp-tailed Grouse preferred include moderate vegetative cover, high plant species diversity, and high structural diversity. Grouse used areas of dense cover (i.e., mountain shrub and riparian cover types) primarily for escape cover. Compared with random sites, grouse selected areas with (1) greater horizontal and vertical cover, (2) greater canopy coverage of forbs typically decreased by livestock grazing, (3) greater density and canopy coverage of arrowleaf balsamroot ( Balsamorhiza sagittata ), and (4) greater canopy coverage of bluebunch wheatgrass ( Agropyron spicatum ) in the big sagebrush cover type in 1984 and the low sagebrush cover type in 1985. The importance of the native perennials arrowleaf balsamroot and bluebunch wheatgrass became apparent during a drought year when many exotic annuals dried up and provided no cover. Overall, grouse selected vegetative communities that were least modified by livestock grazing.