De novo deletions and duplications at recombination hotspots in mouse germlines

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Effect of microtubule-associated proteins on the protofilament number of microtubules assembled in vitro

In order to demonstrate the effect of microtubule-associated proteins on the protofilament number of microtubules, we used different systems of microtubule formation in vitro in which these proteins are either functionally eliminated (by DNA or glycerol) or absent (purified tubulin). The results obtained by electron microscopy of ultrathin-sectioned material indicate that under standard conditions in the presence of microtubule-associated proteins microtubules are formed consisting predominantly of 14 protofilaments. In cases of deficiency of microtubule-associated proteins, the mean value of the protofilament number is lower, and the protofilament number within the microtubule population varies remarkably. On the other hand, the action of microtubule-associated proteins is enhanced by histones resulting in increased protofilament numbers. A model is proposed illustrating that the quality and the quantity of microtubule-associated proteins bound to microtubules determine the curvature between the protofilaments and restrict the variety of their binding angles. In this way the microtubule-associated proteins may be regarded as an important factor in determining the structural fidelity of microtubules.     

Why there are photodamages to photosystem II at low light intensities

An explanation of photodamages to PS II at low light intensities is proposed. The explanation is based on the two following postulates: 1. Intermediate states of the water-oxidizing complex can undergo parasitic reduction to lower degrees of oxidation. 2. Photosynthetic apparatus can minimize the unfavorable effect of such reduction by changes in the number of active reaction centers of PS II. Some steady-state characteristics were calculated under these assumptions. The results obtained show that the frequency of P680 excitations at low light intensities becomes as high as that at saturating light provided that the rate of parasitic reduction is comparable with the rate of the slowest reaction in the cycle of the water- oxidizing complex conversions.     

Prenatal diagnosis of Pallister-Killian syndrome and literature review

Pallister-Killian syndrome (PKS) is a rare sporadic genetic disorder usually caused by mosaicism of an extra isochromosome of 12p (i(12p)). This retrospective study analysed the prenatal ultrasound manifestations and molecular and cytogenetic results of five PKS foetuses. Samples of amniotic fluid and/or cord blood, skin biopsy and placenta were collected. Conventional karyotyping and single nucleotide polymorphism array (SNP array) were performed on all the amniotic fluid or cord blood samples. Copy number variants sequencing (CNV-seq) and fluorescence in situ hybridization (FISH) were also used for the validation for one foetus. All the five foetuses were from pregnancies with advanced parental age. Two foetuses involved structural abnormalities and one foetus had only soft markers, all of which included increased nuchal translucency. The rest two foetuses had normal ultrasounds in the second trimester, which has rarely been reported before. The karyotype revealed typical i(12p) in four cases and a small supernumerary marker chromosome consisting of 12p and 20p in the remaining one case. The proportion of cells with i(12p) ranged from 0 to 100% in cultural cells, while SNP array results suggested 2−4 copies of 12p. For one foetus, metaphase FISH showed normal results, but the interphase FISH suggested cell lines with two, three and four copies of 12p in the amniotic fluid. Advanced parental age may be an important risk factor for PKS, and there were no typical ultrasound manifestations related to PKS. A combination of karyotype analysis and molecular diagnosis is an effective method for the diagnosis of PKS.     

Fitness consequences of egg-size variation in the lesser snow goose

We investigated the relationship between eggsize variation and (a) egg hatching success, (b) chick survival to fledging and recruitment, and (c) adult female survival, over 12 years in the lesser snow goose (Anser caerulescens caerulescens). By comparing the means and variances of egg size for successful and unsuccessful eggs, our aim was to assess the relative fitness of eggs of different sizes and to determine the type of selection operating on egg size in this species. As both egg size and reproductive success vary with age in the lesser snow goose we controlled for the effects of female age. Egg-size variation is very marked in this population, varying by up to 52% for eggs hatching successfully. However, there was no relationship between egg size and post-hatching survival of goslings to fledging or recruitment, either within or between broods, pooling across years. Egg size varied significantly between successful and unsuccessful clutches in only 2 of 33 individual year comparisons. First-laid eggs surviving to onset of incubation, and eggs hatching successfully, were on average larger than unsuccessful eggs, but this was probably due to the confounding effects of female age-specific and sequence-specific egg survival. Variance of egg size differed significantly between successful and unsuccessful eggs in only 3 of 24, and 0 of 21, individual year comparisons for pre- and post-hatching survival respectively. We therefore found little evidence for a relationship between egg-size variation and offspring fitness, or for strong directional, normalising or diversifying selection operating on egg size, in the lesser snow goose. In addition, there was only weak support for the hypothesis that egg-size variation is maintained by temporal variation in selection pressure (sensu Ankney and Bisset 1973). It is likely that egg-size variation represents the pleiotropic expression of alleles affecting more general physiological or metabolic processes. While this does not rule out the existence of alleles with more direct effects on egg size we suggest that their contribution to heritable egg size is small.     

Nucleotide sequence and characterization of a maize cytoplasmic ribosomal protein S11 cDNA

We isolated a Zea mays cDNA encoding the 40S subunit cytoplasmic ribosomal protein S11. The nucleotide sequence was determined and the derived amino acid sequence compared to the corresponding Arabidopsis thaliana protein showing an homology of 90%. This ribosomal protein is encoded by a small multigene family of at least two members. The mRNA steady-state level is about one order of magnitude higher in rapidly growing parts of the plant such as the roots and shoots of seedlings compared to fully expanded leaf tissue.     

Hard-sphere/pseudo-particle modelling (HS-PPM) for efficient and scalable molecular simulation of dilute gaseous flow and transport

Continuum methods are not accurate enough for flows at high Knudsen numbers, whereas rigorous molecular dynamics (MD) methods are too costly for simulations at practical dimensions. Hard-sphere (HS) model is a simplified MD method efficient for dilute gaseous flow but is of poor parallelism due to its event-driven nature, which sets a strong limitation to its large-scale applications. In this work, pseudo-particle modelling, a time-driven modelling approach is coupled with HS model to construct a scalable parallel method capable of simulating flows and transport processes at high Knudsen numbers without losing necessary molecular details in describing their macro-scale behaviours. The method is validated in several classical simulation cases and its performance is evaluated to be favourable. To demonstrate the potential applications of this method, we also simulate the diffusion of small molecules in multi-scale porous media which is related to catalysis, material preparation and micro chemical engineering in the long term.