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Molecular investigations of the causes and consequences of hypomethylation

We have one copy of our genes from our mother, and one from our father.  However, for about 1% of genes, only one copy is used; the other is silent, or “imprinted”, by molecular modifications applied to the DNA, rather than actual changes to its sequence (epigenetic modifications).  

Many imprinted genes are involved in growth and development, and mutations in these genes are associated with congenital growth disorders.  The role of imprinted genes in growth regulation means that they are likely play a role in the development of cancers and other conditions in which cell and tissue growth are abnormal.  We have found that some people have a very rare disorder where imprints are incorrectly applied to a whole range of imprinted genes.  

Moreover, we have recently identified a gene mutation that causes this disorder; this gene must be involved in the normal processes of imprinting.  We now want to find out more about this gene, identify more patients, learn more about the imprinted genes that it controls, and if possible discover more genes involved in imprinting.  This work will help us to understand normal imprinting and also to help patients with imprinting disorders.

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