Copy Number Variations Due to Large Genomic Deletion in X-Linked Chronic Granulomatous Disease

Mutations in genes for any of the six subunits of NADPH oxidase cause chronic granulomatous disease (CGD), but almost 2/3 of CGD cases are caused by mutations in the X-linked CYBB gene, also known as NAD (P) H oxidase 2. Approximately 260 patients with CGD have been reported in Japan, of whom 92 were shown to have mutations of the CYBB gene and 16 to have chromosomal deletions. However, there has been very little detailed analysis of the range of the deletion or close understanding of the disease based on this. We therefore analyzed genomic rearrangements in X-linked CGD using array comparative genomic hybridization analysis, revealing the extent and the types of the deletion genes. The subjects were five Japanese X-linked CGD patients estimated to have large base deletions of 1 kb or more in the CYBB gene (four male patients, one female patient) and the mothers of four of those patients. The five Japanese patients were found to range from a patient exhibiting deletions only of the CYBB gene to a female patient exhibiting an extensive DNA deletion and the DMD and CGD phenotype manifested. Of the other three patients, two exhibited CYBB, XK, and DYNLT3 gene deletions. The remaining patient exhibited both a deletion encompassing DNA subsequent to the CYBB region following intron 2 and the DYNLT3 gene and a complex copy number variation involving the insertion of an inverted duplication of a region from the centromere side of DYNLT3 into the deleted region

Directed assembly of optoelectronically active alkyl-<i>π</i>-conjugated molecules by adding <i>n</i>-alkanes or <i>π</i>-conjugated species

Supramolecular assembly can yield ordered structures by taking advantage of the cumulative effect of multiple non-covalent interactions between adjacent molecules. The thermodynamic origin of many self-assembled structures in water is the balance between the hydrophilic and hydrophobic segments of the molecule. Here, we show that this approach can be generalized to use solvophobic and solvophilic segments of fully hydrophobic alkylated fullerene molecules. Addition of n-alkanes results in their assembly--due to the antipathy of C60 towards n-alkanes--into micelles and hexagonally packed gel-fibres containing insulated C60 nanowires. The addition of pristine C60 instead directs the assembly into lamellar mesophases by increasing the proportion of π-conjugated material in the mixture. The assembled structures contain a large fraction of optoelectronically active material and exhibit comparably high photoconductivities. This method is shown to be applicable to several alkyl-π-conjugated molecules, and can be used to construct organized functional materials with π-conjugated sections

Novel Speech Motion Generation by Modeling Dynamics of Human Speech Production

We developed a method to automatically generate humanlike trunk motions based on speech (i.e., the neck and waist motions involved in speech) for a conversational android from its speech in real time. To generate humanlike movements, the android’s mechanical limitation (i.e., limited number of joints) needs to be compensated for. By enforcing the synchronization of speech and motion in the android, the method enables us to compensate for its mechanical limitations. Moreover, motion can be modulated to express emotions by tuning the parameters in the dynamical model. This method is based on a spring-damper dynamical model driven by voice features to simulate the human trunk movements involved in speech. In contrast to the existing methods based on machine learning, our system can easily modulate the motions generated due to speech patterns because the model’s parameters correspond to muscle stiffness. The experimental results show that the android motions generated by our model can be perceived as more natural and thus motivate users to talk longer with it compared to a system that simply copies human motions. In addition, our model generates emotional speech motions by tuning its parameters

Vesicomyid Fauna in the Chishima (Kurile) Trench: Occurrences of a New Taxon and Calyptogena extenta

http://www.godac.jamstec.go.jp/darwin/cruise/yokosuka/yk07-14/