Global genetic analysis of all single nucleotide polymorphisms in exons of the human deoxyribonuclease I-like 3 gene and their effect on its catalytic activity

Deoxyribonucleases (DNases) have been suggested to be implicated in the pathophysiology of autoimmune diseases. In the DNASE1L3 gene encoding human DNase I‐like 3 (DNase 1L3), a member of the DNase I family, only two non‐synonymous (R178 H and R206C) single nucleotide polymorphisms (SNPs) have been examined [Ueki et al., Clin. Chim. Acta 2009, 407, 20–24]. Three other non‐synonymous (G82R, K96N, and I243M) and four synonymous (S17S, T84T, R92R, and A181A) SNPs, in addition to R206C and R178H, have been identified in DNASE1L3. We investigated the distribution of all these SNPs in exons of the gene in eight Asian, three African, and three Caucasian populations worldwide using newly devised genotyping methods. SNP T84T showed polymorphism in all the populations, and R92R was polymorphic in the three African and three Caucasian populations; R206C was distributed only in Caucasian populations. In contrast, no minor allele was found in five SNPs (S17S, G82R, K96N, A181A, and I243M) in DNASE1L3. Generally, the DNase 1L3 gene shows relatively low genetic diversity with regard to exonic SNPs. When the effect of amino acid/nucleotide substitutions resulting from the SNPs on DNase 1L3 activity was examined, none of the synonymous SNPs had any effect on the DNase 1L3 activity, whereas among non‐synonymous SNPs, SNP G82R diminished the activity of the enzyme, being similar to R206C. These findings permit us to assume that, although only R206 exhibits polymorphisms in a Caucasian‐specific manner, at least SNPs G82R and R206C in DNASE1L3 might be potential risk factors for autoimmune disease.     

Direct observation by laser scanning confocal microscopy of microstructure and phase migration of PVC gels in an applied electric field

The fluorescent probe lucigenin was incorporated in poly(vinyl chloride) (PVC) gels, and laser scanning confocal microscopy (LSCM) was used to clarify the internal structures of the gels. From the two-dimensional and three-dimensional information by LSCM, we first observed the internal structure of the PVC gel at a wet status, where the PVC gels comprised a polymer-rich phase and a polymer-poor phase uniformly with a three-dimensional network structure. After an electric field was applied, an effect of the electric field resulted in the change of internal structure in the gels. The polymer-poor phase moved from the cathode to the anode and the polymer-rich phase formed linelike arrangement between electrodes due to the attraction force. On the other hand, the freeze-dried PVC gels with/without in-situ dc voltage casting were particularly fabricated to confirm above results by the field emission scanning electron microscopy (FE-SEM). It was found that many craters remained on the surface of the gel near the anode due to sublimation in freeze-drying. This phenomenon did not appear on the surface near the cathode. The results of in-situ dc voltage casting also suggested that a substantial amount of polymer-poor phase was moved and fixed at the anode. Thus, results of both LSCM and in-situ dc voltage casting corresponded to the effect of electric field on PVC gels and provided a convincing evidence for the interpretation of the deformation mechanism of PVC gel actuators by an applied electric field.     

Use of Soft Plasma Ionization Source at Evacuated Air Atmospheres in Time-of-Flight Mass Spectrometry to Suppress Fragmentation of Volatile Organic Compounds

This study describes a measuring system for mass spectrometry, consisting of a glow discharge ionization source for soft plasma ionization and a time-of-flight mass spectrometer, to detect toxic volatile organic compounds rapidly and easily. It is the most important to determine how the complicated fragmentation of such compounds can be suppressed to occur so as to recognize the mass spectra of the volatile organic compounds as their fingerprints. The novelty of this work is that the optimal discharge condition for the soft plasma ionization–time-of-flight mass spectrometer system could be selected, so that the parent mass peak of analyte molecules could be observed both with high sensitivity and with little or no fragmentation of them. Use of air gas at a pressure of 1000 Pa provided the most favorable result for these criteria, whereas, in a previous report, the soft plasma ionization source operating with argon at a pressure of 346 Pa had yielded additional mass peaks of the fragmented species. The reason for this would be explained by the fact that energetic electrons in the plasma, which principally cause the fragmentation of the volatile organic compounds, have lower number density at higher gas pressures, through de-accelerated collisions with the plasma gas.     

Characterization for Fock-Type Space via Higher Order Derivatives and its Application

The space of entire functions \(\mathcal {F}_{\alpha }^{\infty }\) is mentioned in the paper of S. Janson, J. Peetre, and R. Rochberg. In this paper, we establish a characterization for the space \(\mathcal {F}_{\alpha }^{\infty }\) by \(n\) -th derivatives of entire functions. As an application of this result, we study the boundedness of Li-Stevi?’s integral operators and estimate essential norms of these operators acting on \(\mathcal {F}_{\alpha }^{\infty }\) . Furthermore we describe complete characterizations for boundedness and compactness of the Volterra-type integral operators on \(\mathcal {F}_{\alpha }^{\infty }\) .     

Boosting local quasi-likelihood estimators

For likelihood-based regression contexts, including generalized linear models, this paper presents a boosting algorithm for local constant quasi-likelihood estimators. Its advantages are the following: (a) the one-boosted estimator reduces bias in local constant quasi-likelihood estimators without increasing the order of the variance, (b) the boosting algorithm requires only one-dimensional maximization at each boosting step and (c) the resulting estimators can be written explicitly and simply in some practical cases.     

Stereoselective synthesis and structure of butalactin and lactone II isolated from Streptomyces species

Butalactin (1a) and lactone II (2a) have been synthesized starting from (S)-malic acid and sorbic acid by a straightforward route. The absolute stereochemistry of 1a and 2a was unambiguously established by this synthesis.