Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy

Dystrophin is a key cytoskeletal protein coded by the Duchenne muscular dystrophy (DMD) gene located on the X-chromosome. Truncating mutations in the DMD gene cause loss of dystrophin and the classical DMD clinical syndrome. Spontaneous DMD gene mutations and associated phenotypes occur in several other species. The mdx mouse model and the golden retriever muscular dystrophy (GRMD) canine model have been used extensively to study DMD disease pathogenesis and show efficacy and side effects of putative treatments. Certain DMD gene mutations in high-risk, the so-called hot spot areas can be particularly helpful in modeling molecular therapies. Identification of specific mutations has been greatly enhanced by new genomic methods. Whole genome, next generation sequencing (WGS) has been recently used to define DMD patient mutations, but has not been used in dystrophic dogs. A dystrophin-deficient Cavalier King Charles Spaniel (CKCS) dog was evaluated at the functional, histopathological, biochemical, and molecular level. The affected dog’s phenotype was compared to the previously reported canine dystrophinopathies. WGS was then used to detect a 7 base pair deletion in DMD exon 42 (c.6051-6057delTCTCAAT mRNA), predicting a frameshift in gene transcription and truncation of dystrophin protein translation. The deletion was confirmed with conventional PCR and Sanger sequencing. This mutation is in a secondary DMD gene hotspot area distinct from the one identified earlier at the 5′ donor splice site of intron 50 in the CKCS breed. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s00335-016-9675-2) contains supplementary material, which is available to authorized users

Travelling Head

Throughout 1981 visiting North American performance artist Richard Boulez offered his head as an exhibition space to a selected number of Sydney artists. The artists were invited to do a work attached to Boulez’s head on dates that coincided with exhibition openings at The Watters Gallery, Darlinghurst, Sydney. Mr Boulez would visit the artist’s studio or work place prior to the opening. After the artist had completed the work Mr Boulez and the artist concerned would travel by public transport to the particular opening at The Watters Gallery, then onto a coffee shop, restaurant or theatre before Mr Boulez would retire and the exhibit end. Artists who took part in the Travelling Head Exhibit with Richard Boulez were in order: • Silvia Jansons • Malcom King • Tony Twigg • Robyn Gordon • Jon Cockburn • Judith Blackall • Joan Brassil • Joan Grounds • Janet Laurence • Tim Harris • Heather Dorrough • Trevor Weeke

Post-Acousmatic Practice: Re-evaluating Schaeffer’s heritage

This paper posits the notion of the post-acousmatic. The authors consider the work of contemporary practitioners who are indebted to the Schaefferian heritage, but pursue alternative trajectories from the established canonical discourse of acousmatic music. The paper will outline the authors’ definition of the term and outline a network of elements such as time, rhythm, pitch, dynamics, noise and performance to discuss work that the authors’ consider to be a critique, an augmentation and an outgrowth of acousmatic music and thinking