2 research outputs found
Sound Knowledge: Music and Science in London, 1789-1851
What does it mean to hear scientifically? What does it mean to see musically? This volume uncovers a new side to the long nineteenth century in London, a hidden history in which virtuosic musical entertainment and scientific discovery intersected in remarkable ways.
Sound Knowledge examines how scientific truth was accrued by means of visual and aural experience, and, in turn, how musical knowledge was located in relation to empirical scientific practice. James Q. Davies and Ellen Lockhart gather work by leading scholars to explore a crucial sixty-year period, beginning with Charles Burney’s ambitious General History of Music, a four-volume study of music around the globe, and extending to the Great Exhibition of 1851, where musical instruments were assembled alongside the technologies of science and industry in the immense glass-encased collections of the Crystal Palace. Importantly, as the contributions show, both the power of science and the power of music relied on performance, spectacle, and experiment. Ultimately, this volume sets the stage for a new picture of modern disciplinarity, shining light on an era before the division of aural and visual knowledge
Recommended from our members
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify the non-coding RNA RNU4-2 as a syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome2. We identify an 18 base pair region of RNU4-2 mapping to two structural elements in the U4/U6 snRNA duplex (the T-loop and stem III) that is severely depleted of variation in the general population, but in which we identify heterozygous variants in 115 individuals with NDD. Most individuals (77.4%) have the same highly recurrent single base insertion (n.64_65insT). In 54 individuals in whom it could be determined, the de novo variants were all on the maternal allele. We demonstrate that RNU4-2 is highly expressed in the developing human brain, in contrast to RNU4-1 and other U4 homologues. Using RNA sequencing, we show how 5 splice-site use is systematically disrupted in individuals with RNU4-2 variants, consistent with the known role of this region during spliceosome activation. Finally, we estimate that variants in this 18 base pair region explain 0.4% of individuals with NDD. This work underscores the importance of non-coding genes in rare disorders and will provide a diagnosis to thousands of individuals with NDD worldwide