Complex interactions between genes controlling trafficking in primary cilia

Cilia-associated human genetic disorders are striking in the diversity of their abnormalities and their complex inheritance. Inactivation of the retrograde ciliary motor by mutations in DYNC2H1 causes skeletal dysplasias that have strongly variable expressivity. Here we define previously unknown genetic relationships between Dync2h1 and other genes required for ciliary trafficking. Mutations in mouse Dync2h1 disrupt cilia structure, block Sonic hedgehog signaling and cause midgestation lethality. Heterozygosity for Ift172, a gene required for anterograde ciliary trafficking, suppresses cilia phenotypes, Sonic hedgehog signaling defects and early lethality of Dync2h1 homozygotes. Ift122, like Dync2h1, is required for retrograde ciliary trafficking, but reduction of Ift122 gene dosage also suppresses the Dync2h1 phenotype. These genetic interactions illustrate the cell biology underlying ciliopathies and argue that mutations in intraflagellar transport genes cause their phenotypes because of their roles in cilia architecture rather than direct roles in signaling.     

Diets of young Colorado squawfish and other small fish in backwaters of the Green River, Colorado and Utah

We compared diet of young-of-year Colorado squawfish ( Ptychocheilus lucius ), an endangered cyprinid, with diets of other fish Rhinichthys osculus, Catostomus discobolus, and C. latipinnts , and nonnative Cyprinella lutrensis, Notropis stramineus, Pimephales promelas, Ictalurus punctatus, and Lepomis cyanellus. For each species, diet varied with size and between upper and lower river reaches but not between seasons for fish of similar size. Larval chironomids and ccratopogonids were principal foods of most fishes. Copepods and cladocerans were important in diets of P. lucius L. cyanellus Catostomus discobolus was the only species that ate moderate amounts of algae. Fish (all larvae) were in digestive tracts of only 10 P. lucius (21-73 mm TL), about 1% of P. lucius analyzed. High diet overlap occurred between some size-reach groups of P. lucius and C. lutrensis, R. osculus, C. latipinnis, I. punctatus, and L. cyanellus . Potential for food competition between young-of-year P. lucius and other fishes in backwaters appeared greatest with the very abundant C. lutrensis .     

Seasonal trends and colonization patterns of macroinvertebrate assemblages in two streams with contrasting flow regimes

Patterns of colonization by macroinvertebrates were examined in two streams that differ in flow regime: a snowmelt system and a mesic groundwater system. Experiments were conducted during spring runoff, summer baseflow, and winter baseflow using artificial substrata. Colonization patterns reflected seasonal changes in benthic macroinvertebrate assemblages and life histories in each stream. The density and biomass of benthic organisms were approximately 3X greater in winter than in either spring or summer for both streams. Similarly, colonization was greater in winter than in spring or summer for both streams. In spring, colonization patterns were different between streams, with colonization being imperceptible in the snowmelt stream. Macroinvertebrate abundance fluctuated during the summer colonization experiment at both sites, resulting from a complex interplay among population emergence, recruitment, and/or movement. Assemblages in the snowmelt system primarily comprised mobile or ruderal taxa, such as Beatis tricaudatus and Chironomidae, whereas relatively sessile taxa, such as Glossoma nigrior , were predominant in the mesic groundwater system. Seasonal patterns of colonization differed among stream types primarily because of the profound interplay of flow regime and temperature on benthic community structure and organism life history.     

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

The Alzheimer Disease Genetics Consortium (ADGC) performed a genome-wide association study of late-onset Alzheimer disease using a three-stage design consisting of a discovery stage (stage 1) and two replication stages (stages 2 and 3). Both joint analysis and meta-analysis approaches were used. We obtained genome-wide significant results at MS4A4A (rs4938933; stages 1 and 2, meta-analysis P (P(M)) = 1.7 × 10(-9), joint analysis P (P(J)) = 1.7 × 10(-9); stages 1, 2 and 3, P(M) = 8.2 × 10(-12)), CD2AP (rs9349407; stages 1, 2 and 3, P(M) = 8.6 × 10(-9)), EPHA1 (rs11767557; stages 1, 2 and 3, P(M) = 6.0 × 10(-10)) and CD33 (rs3865444; stages 1, 2 and 3, P(M) = 1.6 × 10(-9)). We also replicated previous associations at CR1 (rs6701713; P(M) = 4.6 × 10(-10), P(J) = 5.2 × 10(-11)), CLU (rs1532278; P(M) = 8.3 × 10(-8), P(J) = 1.9 × 10(-8)), BIN1 (rs7561528; P(M) = 4.0 × 10(-14), P(J) = 5.2 × 10(-14)) and PICALM (rs561655; P(M) = 7.0 × 10(-11), P(J) = 1.0 × 10(-10)), but not at EXOC3L2, to late-onset Alzheimer's disease susceptibility.     

Performance of Ion-gel Actuator Containing Ionic Liquids

1 Results Electroactive polymers (EAPs) driven by transducing electric energy into mechanical energy have been the subjects of recent interest[1].“Ionic liquids“,consisting entirely of cation and anion,have characteristic features such as negligible volatility,non-flammability,thermal and chemical stability,and high ionic conductivity.We proposed an EAP actuator utilizing ion-gels[2-3],which consist of ionic liquids and polymers,sandwiching with two carbon material sheets as shown in Fig.1.This electrol...     

Altered expression of securin (Pttg1) and serpina3n in the auditory system of hearing-impaired Tff3-deficient mice

Introduction

Tff3 peptide exerts important functions in cytoprotection and restitution of the gastrointestinal (GI) tract epithelia. Moreover, its presence in the rodent inner ear and involvement in the hearing process was demonstrated recently. However, its role in the auditory system still remains elusive. Our previous results showed a deterioration of hearing with age in Tff3-deficient animals.

Results

Present detailed analysis of auditory brain stem response (ABR) measurements and immunohistochemical study of selected functional proteins indicated a normal function and phenotype of the cochlea in Tff3 mutants. However, a microarray-based screening of tissue derived from the auditory central nervous system revealed an alteration of securin (Pttg1) and serpina3n expression between wild-type and Tff3 knock-out animals. This was confirmed by qRT-PCR, immunostaining and western blots.

Conclusions

We found highly down-regulated Pttg1 and up-regulated serpina3n expression as a consequence of genetically deleting Tff3 in mice, indicating a potential role of these factors during the development of presbyacusis.     

广西产眼镜王蛇毒α-神经毒素基因的分子克隆及序列分析

为获得眼镜王蛇（Ophiophagus hannah，简称Oh）蛇毒α－神经毒素（α-NT）的基因序列，依据眼镜蛇科不同毒蛇种类来源的α－NT基因有较高的同源性，设计1对上下游引物，为克服引物带来模糊扩增，在蛋白编码部分再设计1对上下游特异引物，用Nacleospin RNA Kit法从3条活眼镜王蛇毒腺中提取mRNA，以3′端引物合成的cDNA作为模板进行PCR扩增反应，测定产物的核苷酸序列，得到全长474bp的眼镜王蛇cDNA基因核苷酸序列。该核苷酸序列的信号肽与眼镜蛇树属Pseudonnaja textilis(Pt)、海蛇Laticauda semifasciata(Ls)100%同源，与眼镜蛇南洋亚种Naja sputatrix (Ns)、银环蛇（Bungarus multicinctus)(Bm)96.8%同源；蛋白密码部分有83．3％与Ns、79．2％与Pt、76．4％与Ls、74．1％与Bm同源。信号肽后紧接着的72个氨基酸有90．3％与已发现的眼镜王蛇毒长链α-NT Toxin a同源，大约有73．6％与Toxin b、69．7％与Oh-4、66．7％与Oh-5、56．9％与Oh-6A和6B同源，并与α－银环蛇毒素54．2％同源。说明新发现的眼镜王蛇cDNA是一条长链α-NT基因。     

南京栖霞山铅锌矿山中的现代钙华:一种高度富锌和锰的方解石

金属硫化物矿山开发引发的重金属污染已成为当前急需解决的环境问题. 以南京栖霞山铅锌矿采矿巷道壁上的现代钙华为研究对象, 利用电子探针、扫描电子显微镜和X射线粉末衍射分析等矿物学手段, 分析了钙华中的矿物组成及其重金属元素的赋存形态和分布状况. 结果表明钙华的主要矿物成分为方解石. 尽管地层水的重金属含量较低, 但是钙华中碳酸盐矿物的微量元素含量却较高, 最高含量分别为: Mn 23.65%, Zn 9.60%, Mg 0.76%, Fe 4.44%和Pb 0.66%. 钙华在电子探针背散射电子像中呈现出复杂的韵律壳层构造, 成分分析表明这种韵律壳层构造与重金属的分布有关. 另外, 在钙华中见有螺旋状及团絮状物质可能表明微生物参与了钙华的形成过程, 并与重金属的富集存在关联. 所报道的高度富锌-锰方解石对矿山环境中的重金属污染治理具有可借鉴意义.