Peter Donnelly, Director, Wellcome Trust Centre for Human Genetics, University of Oxford: Recombination hotspots and fine scale population structure and history in the UK

Peter Donnelly, Director, Wellcome Trust Centre for Human Genetics, University of Oxford
Tuesday, April 10, 2012, 4:00 PM to 5:00 PM
Location: Engineering 2, Room 599
Hosted By David Haussler

The first part of this talk will describe recent progress in our understanding of the mechanisms underlying human recombination. In addition to being one of the fundamental forces generating genetic diversity within populations, recombination is an essential part of meiosis, with errors in the process responsible for various serious human conditions.? Although it has been known for a long time, from pedigree studies, that recombination rates vary over megabase scales in the human genome, it became clear? about a decade ago that most recombination actually happens in small (1-2kb) regions called recombination hotspots.? The application of sophisticated statistical methods to large surveys of population genetic variation allowed the identification and characterisation of over 30,000 human hotspots.? A degenerate 13bp sequence motif has been associated with human hotspots - the first such motif identified in any species - followed recently by identification of the gene which binds the motif, and an understanding of the consequences of variation in the gene. The gene in question, PRDM9, turns out to be one of the most interesting genes in the human genome.

The second part of the talk will focus on the analysis of a particular UK sample collection, the "People of the British Isles".? Individuals were sampled from rural areas of the UK, and included in analysis if they and their four grandparents were from the same area.? Informally, this can be thought of as a genetic sample from the UK population about 100 years ago, before some of the more recent large-scale population movements.? Haplotype-based analyses of population structure based on dense SNP-chip data reveal fine-scale genetic differentiation within the UK, and shed light on aspects of the history of the British Isles.

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