A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia

Familial hypercholesterolemia (FH) results from impaired catabolism of plasma low density lipoproteins (LDL), thus leading to high cholesterol, atherosclerosis, and a high risk of premature myocardial infarction. FH is commonly caused by defects of the LDL receptor or its main ligand apoB, together mediating cellular uptake and clearance of plasma LDL. In some cases FH is inherited by mutations in the genes of PCSK9 and LDLRAP1 (ARH) in a dominant or recessive trait. The encoded proteins are required for LDL receptor stability and internalization within the LDLR pathway. To detect the underlying genetic defect in a family of Turkish descent showing unregular inheritance of severe FH, we screened the four candidate genes by denaturing gradient gel electrophoresis (DGGE) mutation analysis. We identified different combinatory mixtures of LDLR- and LDLRAP1-gene defects as the cause for severe familial hypercholesterolemia in this family. We also show for the first time that a heterozygous LDLR mutation combined with a homozygous LDLRAP1 mutation produces a more severe hypercholesterolemia phenotype in the same family than a homozygous LDLR mutation alone.     

卧龙巴郎山川滇高山栎群落植物叶特性海拔梯度特征

川滇高山栎林是中国植被非常特殊的亚高山硬叶栎林类型,广泛分布在横断山地区。为了阐明植物群落植物叶型组成对海拔梯度的响应,对卧龙自然保护区巴朗山阳坡川滇高山栎群落植物叶型特征随海拔梯度（15海拔梯度,海拔2200～3600 m）的变化进行了研究。卧龙自然保护区巴朗山各个梯度川滇高山栎群落维管束植物的叶级以小型叶为主,占总种数的平均百分率为36.09％;细型叶和中型叶的维管束植物比例相当,分别为25.64％,25.22％;大型叶和巨型叶维管束植物分别占6.82％～9.94%和0.00％～0.71%;微型叶植物比例在1.28～5.59%;小型叶维管束植物的比例随海拔先降低后升高再降低,最低值出现在海拔3000 m左右。各个海拔梯度川滇高山栎林内维管束植物的叶型以单叶为主,平均占总种数的75.89％,其余为复叶植物,占总种数的24.11％;维管束单叶型植物物种比例随海拔升高变幅较小,在73.84％～78.78％之间,但在海拔2500 m有一个最低值,其比例为73.85％;复叶维管束植物在各海拔梯度群落物种数比例在21.21％～26.15％之间。各海拔川滇高山栎林内维管束植物的叶质以纸叶型为主,平均占总种数的46.03％,其次为薄叶植物（29.17％）,革质（22.00%）和厚革质植物（2.79％）。川滇高山栎群落内纸质与厚革质维管束植物种类的比例随海拔升高而降低;革质与薄叶型维管束植物种类的比例随海拔升高而升高。全缘维管束和非全缘维管束植物种类分别占总数的50.50％和49.50％;全缘类维管束植物随海拔升高呈正二项式分布,而非全缘维管束植物则呈相反的分布格局。     

基于盐分梯度的荒漠植物多样性与群落、种间联接响应

土壤盐分是影响干旱区荒漠植物群落动态的决定因素之一。基于样方调查和不同土壤盐分梯度下植物多样性指数及群落与种间关联的计算结果,分析干旱区荒漠群落植物多样性、群落联接性和种间关联对土壤盐分梯度的响应动态。结果表明,在土壤盐含量为0.03%-0.55% (S1)、0.61%-1.24% (S2)和1.41%-1.79% (S3)的盐分梯度上,(1)随土壤盐含量升高,群落生活型结构改变,草本比例减少,乔木比例增加;(2)植物多样性指数随土壤盐分增加而下降,低盐分梯度下,二者极显著正相关(P<0.01),中盐梯度下二者间呈部分显著负相关(P<0.05),高盐梯度下则转为以正相关为主(P>0.05);(3)群落联接性随土壤盐分梯度转变,在0.61%-1.24%的中度盐含量时正联接性最强(VR=1.89),高盐度含量下群落转为不显著的负联接,稳定性降低;(4)沿盐分升高梯度,种间的负相关种对数增加,正相关种对数减少,种间关联(相关)强度提高,正负相关种对比(PNR)与多样性指数呈显著正相关(P<0.05)。综上可知,干旱区荒漠植物多样性在土壤盐含量达到1.41%-1.79%水平时总体显著降低;土壤盐分水平显著影响植物群落和种间联接性,种间互利性随盐分梯度增加下降,物种趋于独立分布,并最终导致荒漠植物多样性降低。     

贺兰山不同海拔典型植被带土壤微生物多样性

土壤微生物多样性在海拔梯度的分布格局研究近年来受到和植物动物一样的重视程度,但是干旱风沙区微生物多样性在海拔梯度上的多样性分布规律尚未揭示。本研究以处于干旱风沙区的贺兰山不同海拔的六个典型植被带（荒漠草原带、山地旱生灌丛带、温性针叶林带、针阔混交林带、寒温性针叶林带和亚高山草甸带）土壤为研究对象,利用Biolog微平板法和磷脂脂肪酸甲酯法(FAMEs)系统研究微生物多样性群落特征以及在不同植被带分布规律。结果表明：土壤微生物功能多样性随海拔增加发生变化,且微生物群落结构存在显著差异。Biolog分析显示土壤微生物群落代谢活性依次是：亚高山草甸>寒温性针叶林>针阔混交林>温性针叶林>山地旱生灌丛>荒漠草原,随海拔的升高土壤微生物群落物种丰富度指数（H）和均匀度指数（E）总体上均表现出增大的趋势,差异显著（P＜0.05）;FAMEs分析表明不同海拔的微生物区系发生了一定程度的变化,寒温性针叶林土壤微生物磷酸脂肪酸生物标记的数量和种类均最高,且细菌、真菌特征脂肪酸相对含量也最高;土壤微生物群落结构多样性次序是：寒温性针叶林带>针阔混交林带>温性针叶林带>亚高山草甸>山地旱生灌丛>荒漠草原。本研究结果表明贺兰山海拔梯度的微生物多样性分布规律不同于已有的植物多样性“中部膨胀”研究结果,这说明在高海拔地区有更多的适合该生境的微生物存在,这对维持干旱风沙区的生态系统功能稳定性具有重要意义。     

Ab-initio simulations of magnetic iron sulphides

We present the results of simulations, using density functional theory (DFT) with generalized gradient corrections (GGA), on the troilite (FeS), pyrrhotite (Fe_1?xS) and MnP phases of FeS. The values obtained for the cell parameters and c/a ratio of troilite accurate to within 1% of those determined by experiment, a significant improvement on previous simulations. Energy–volume curves for FeS in the troilite and MnP structures indicate a pressure-induced transition at 4?GPa (experimentally observed at 3.4?GPa). Comparison of spin-polarised and non-spin-polarised simulations of the troilite structure demonstrate the significance of magnetostructural effects in determining the c/a ratio and shed light on the magnetic and volume collapse of FeS on its transition from the MnP to a monoclinic structure at 6.7?GPa. Simulations of different (001) surface terminations of troilite indicate that stable surfaces are characterised by triangles of iron atoms “capped” with a sulphur atom.     

Total soluble protein profiles of Beauveria bassiana and their relationship with virulence against Helicoverpa armigera

Intracellular total soluble proteins of Beauveria bassiana are believed to play an important role in virulence against insect hosts. Thirty B. bassiana isolates collected from different geographical regions and host ranges were characterised by total soluble proteins present in cells, using the SDS–PAGE technique to differentiate the isolates based on virulence and host insect origin. In vitro analysis of total soluble protein profiles of 30 isolates was studied to understand the relationship of isolates with their host of origin and virulence against Helicoverpa armigera. There was a positive relationship between virulence and host origin. All the non-virulent isolates are grouped together. Similarly, highly virulent isolates against H. armigera were grouped together. The relationship between total soluble proteins and pathogenicity was positively correlated. Thirty isolates shared only 22% similarity in their protein profiles.     

Phylogenetic plant community structure along elevation is lineage specific

The trend of closely related taxa to retain similar environmental preferences mediated by inherited traits suggests that several patterns observed at the community scale originate from longer evolutionary processes. While the effects of phylogenetic relatedness have been previously studied within a single genus or family, lineage‐specific effects on the ecological processes governing community assembly have rarely been studied for entire communities or flora. Here, we measured how community phylogenetic structure varies across a wide elevation gradient for plant lineages represented by 35 families, using a co‐occurrence index and net relatedness index (NRI). We propose a framework that analyses each lineage separately and reveals the trend of ecological assembly at tree nodes. We found prevailing phylogenetic clustering for more ancient nodes and overdispersion in more recent tree nodes. Closely related species may thus rapidly evolve new environmental tolerances to radiate into distinct communities, while older lineages likely retain inherent environmental tolerances to occupy communities in similar environments, either through efficient dispersal mechanisms or the exclusion of older lineages with more divergent environmental tolerances. Our study illustrates the importance of disentangling the patterns of community assembly among lineages to better interpret the ecological role of traits. It also sheds light on studies reporting absence of phylogenetic signal, and opens new perspectives on the analysis of niche and trait conservatism across lineages.     

Determining indicator taxa across spatial and seasonal gradients in the Columbia River coastal margin

Bacterioplankton communities are deeply diverse and highly variable across space and time, but several recent studies demonstrate repeatable and predictable patterns in this diversity. We expanded on previous studies by determining patterns of variability in both individual taxa and bacterial communities across coastal environmental gradients. We surveyed bacterioplankton diversity across the Columbia River coastal margin, USA, using amplicon pyrosequencing of 16S rRNA genes from 596 water samples collected from 2007 to 2010. Our results showed seasonal shifts and annual reassembly of bacterioplankton communities in the freshwater-influenced Columbia River, estuary, and plume, and identified indicator taxa, including species from freshwater SAR11, Oceanospirillales, and Flavobacteria groups, that characterize the changing seasonal conditions in these environments. In the river and estuary, Actinobacteria and Betaproteobacteria indicator taxa correlated strongly with seasonal fluctuations in particulate organic carbon (ρ=−0.664) and residence time (ρ=0.512), respectively. In contrast, seasonal change in communities was not detected in the coastal ocean and varied more with the spatial variability of environmental factors including temperature and dissolved oxygen. Indicator taxa of coastal ocean environments included SAR406 and SUP05 taxa from the deep ocean, and Prochlorococcus and SAR11 taxa from the upper water column. We found that in the Columbia River coastal margin, freshwater-influenced environments were consistent and predictable, whereas coastal ocean community variability was difficult to interpret due to complex physical conditions. This study moves beyond beta-diversity patterns to focus on the occurrence of specific taxa and lends insight into the potential ecological roles these taxa have in coastal ocean environments.     

Grassland plant species occurring in extensively managed road verges are filtered by urban environments

Background: Urbanisation filters species in communities depending on their adaptability to conditions in built-up areas, especially in semi-natural habitats. Roadside vegetation is widespread along urban-rural gradients and is therefore a good place to study landscape-scale factors influencing plant community composition.

Aim: Our study aimed to assess how plant species distributions vary between urban and rural landscape contexts and to identify biological traits favoured in urban areas.

Methods: Presence/absence data for 63 indigenous common species were collected in 296 road verge patches distributed along the urban–rural gradient in three French cities. We investigated the effects of landscape composition on species assemblages and related individual species responses to urbanisation to functional traits associated with dispersal and persistence capacity.

Results: Many grassland species were negatively affected by increasing proportion of built-up areas in the landscape. Insect-pollination and high seed production appeared to be key traits favoured in grassland communities in urban areas, whereas dispersal modes were less related to plant distribution.

Conclusions: This study has demonstrated that urban filters affect common species of widespread, managed road verges. Better knowledge of the flora of these herbaceous roadsides may contribute to the conservation of common biodiversity within other grassland habitats found in urban areas.     

Phenological responses to small-scale spatial variation in snowmelt timing reveal compensatory and conservative strategies in subarctic-alpine plants

Background: In tundra ecosystems, the adjustment of phenological events, such as bud burst, to snowmelt timing is crucial to the climatic adaptation of plants. Natural small-scale variations in microclimate potentially enable plant populations to persist in a changing climate.

Aims: To assess how plant phenology responds to natural differences in snowmelt timing.

Methods: We observed the timing of eight vegetative and reproductive phenophases in seven dwarf-shrub species in relation to differences in snowmelt timing on a small spatial scale in an alpine environment in subarctic Finland.

Results: Some species and phenophases showed accelerated development with later snowmelt, thus providing full or partial compensation for the shorter snow-free period. Full compensation resulted in synchronous occurrence of phenophases across the snowmelt gradient. In other species, there was no acceleration of development. The timing of phenophases varied between two consecutive years and two opposing mountain slope aspects.

Conclusions: The results have shown three distinct patterns in the timing of phenophases in relation to snowmelt and suggest alternative strategies for adaptation to snowmelt timing. These strategies potentially apply to other species and tundra ecosystems and provide a framework, enabling one to compare and generalise phenological responses to snowmelt timing under different future climate scenarios.