Haplotypes spanning SPEC2, PDZ-GEF2 and ACSL6 genes are associated with schizophrenia

Chromosome 5q22-33 is a region where studies have repeatedly found evidence for linkage to schizophrenia. In this report, we took a stepwise approach to systematically map this region in the Irish Study of High Density Schizophrenia Families (ISHDSF, 267 families, 1337 subjects) sample. We typed 289 SNPs in the critical interval of 8 million basepairs and found a 758 kb interval coding for the SPEC2/PDZ-GEF2/ACSL6 genes to be associated with the disease. Using sex and genotype-conditioned transmission disequilibrium test analyses, we found that 19 of the 24 typed markers were associated with the disease and the associations were sex-specific. We replicated these findings with an Irish case-control sample (657 cases and 414 controls), an Irish parent-proband trio sample (187 families, 564 subjects), a German nuclear family sample (211 families, 751 subjects) and a Pittsburgh nuclear family sample (247 families, 729 subjects). In all four samples, we replicated the sex-specific associations at the levels of both individual markers and haplotypes using sex- and genotype-conditioned analyses. Three risk haplotypes were identified in the five samples, and each haplotype was found in at least two samples. Consistent with the discovery of multiple estrogen-response elements in this region, our data showed that the impact of these haplotypes on risk for schizophrenia differed in males and females. From these data, we concluded that haplotypes underlying the SPEC2/PDZ-GEF2/ACSL6 region are associated with schizophrenia. However, due to the extended high LD in this region, we were unable to distinguish whether the association signals came from one or more of these genes.

Interleukin 3 and schizophrenia:the impact of sex and family history

Chromosome 5q21-33 has been implicated in harboring risk genes for schizophrenia. In this paper, we report evidence that multiple single nucleotide polymorphisms in and around interleukin 3 (IL3) are associated with the disease in the Irish Study of High-Density Schizophrenia Families (ISHDSF), the Irish Case-Control Study of Schizophrenia (ICCSS) and the Irish Trio Study of Schizophrenia (ITRIO). The associations are sex-specific and depend on the family history (FH) of schizophrenia. In all three samples, rs31400 shows female-specific and FH-dependent associations (P=0.0062, 0.0647 and 0.0284 for the ISHDSF, ICCSS and ITRIO, respectively). Several markers have similar associations in one or two of the three samples. In haplotype analyses, identical risk and protective haplotypes are identified in the ISHDSF and ITRIO samples in several multimarker combinations. For ICCSS, the same haplotypes are implicated; however, the risk haplotypes observed in the family samples become protective. Several significant markers, rs440970, rs31400 and rs2069803, are located in and around known estrogen response elements, promoter and enhancer of the IL3 gene. They may explain the sex-specific associations and be functional for the expression of IL3 gene.

Compositional and Performance Mapping in Computer Chamber Music: A Case Study

The mapping problem is inherent to digital musical instruments (DMIs), which require, at the very least, an association between physical gestures and digital synthesis algorithms to transform human bodily performance into sound. This article considers the DMI mapping problem in the context of the creation and performance of a heterogeneous computer chamber music piece, a trio for violin, biosensors, and computer. Our discussion situates the DMI mapping problem within the broader set of interdependent musical interaction issues that surfaced during the composition and rehearsal of the trio. Through descriptions of the development of the piece, development of the hardware and software interfaces, lessons learned through rehearsal, and self-reporting by the participants, the rich musical possibilities and technical challenges of the integration of digital musical instruments into computer chamber music are demonstrated.

Cidade Museu

Through the concept of sonic resonance, the project Cidade Museu – Museum City explores five derelict or transitional spaces in the city of Viseu. The activation and capture of these spaces develops an audio- visual memory that reflects architectures, stories and experiences, while creating a sense of place through sounds and images.

The project brings together musicians with a background in contemporary music, electroacoustic music and improvisation and a visual artist focusing on photography and video.

Each member of the collective explores the selected spaces in order to activate them with the help of their respective instruments and through sound projection in an iterative process in which the source of activation gradually gives way to the characteristics of each space, their resonances and acoustic characteristics. The museum city (a nickname for the city of Viseu), in this performance, exposes the contrast between the grandeur and multi-faceted architecture of Viseu’s Cathedral with spaces that spread throughout the city waiting for a new future.

The performance in the Cathedral (Sé) is characterised by a trio ensemble, an eight channel sound system and video projecting audio recordings and images made in each of the five spaces. The audience is invited to explore the relations between the various buildings and their stories while being immersed in their resonances and visual projections.

The performance explores the following spaces in Viseu: the old Orfeão (music hall), an old wine cellar, a mansion home to the national road services, a house with its grounds in Rua Silva Gaio and an old slaughterhouse.

Tools and Environments for Networked Electronic Performance

A collection of software and hardware tools and environments that facilitate collective networked performance between electronic musicians. Tools include 'Chat Monkey', a live chat tool for performance, 'DMA Sequencing', a step sequencer using open sound control messaging and multi nodal control, 'tutti, duet, trio, solo, quartet', an ensemble management environment, and 'Por Larrañaga', a cigar box based electro-acoustic instrument with embedded sensors and controllers. Notable performances: w/BLISS, NCAD, Dublin, 1 March 2015; w/BLISS, NI Science Festival, Belfast, 21 Feb 2015