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Speaker: Dr Michelle Holland, Lecturer, Department of Medical and Molecular Genetics, School of Basic & Medical Biosciences, King's College London
Host: Fiona Wardle
We have identified ribosomal DNA (rDNA), the genes which encode for the RNA components of ribosomes to be epigenetically responsive to the developmental environment using mouse models. The rDNA is an underexplored part of the genome that is usually excluded from genomic studies. Our work revealed that even in inbred mice that there is intragenomic variation at these genes within a single individual and that there is a high level of copy number variation among individuals. The environmentally induced epigenetic silencing was restricted to a genetically distinct subset of these genes and determined by the relative abundance of this sensitive variant. Our findings show that cryptic genetic variation at rDNA correlates with both the magnitude of epigenetic silencing and the severity of the phenotype. We are now directing our attention to further characterising the extent of this genetic variation to understand how this may influence ribosome variation. I will discuss our approaches and model systems. This work highlights that genetic variation at rDNA may be a risk factor for diseases which have an environmental component.