Sir Julian Huxley Lecture: Dosage Sensitive Genes in Evolution and Disease
|Venue:||The Linnean Society of London, Burlington House, Piccadilly, London, W1J 0BF, United Kingdom|
+44 (0)20 7434 4479 EXT 11
18:00–19:00 Wednesday 12 October 2016
In association with The Systematics Association
Human copy number variants (CNVs) account for genome variation, an order of magnitude larger than single nucleotide polymorphisms. While much of this variation has no phenotypic consequences, some variants have been associated with disease, particularly neurodevelopmental disorders. Pathogenic CNVs are typically very large and contain multiple genes. Understanding the cause of the pathogenicity and identifying candidate disease genes remains a significant challenge. We take an approach that uses evolutionary patterns across the vertebrate tree to infer functional constraints on gene duplication and/or loss. We identify evolutionary constraints characteristic of genes in pathogenic CNVs and that can only be explained by dosage sensitivity of those genes. These evolutionary metrics suggest a path to identifying disease genes in pathogenic CNVs.
Aoife McLysaght is a professor in Genetics and Head of Genetics in University of Dublin, Trinity College. She was a member of the international consortium that published the first draft of the Human Genome sequence in 2001. She has made significant contributions to our understanding of the human genome, as well as the genomes of other animals, plants and viruses.
This meeting is free and open to all; registration is not necessary. Tea will be served in the Library from 17:30 and the event will be followed by a wine reception.