Sequencing of Epigenetic Marks

Lead Research Organisation: University of Cambridge
Department Name: Chemistry

Abstract

The ultimate goal is to more accurately sequence the mammalian genome, for the first time identifying both of the modified DNA bases (epigenetic marks) of 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) in addition to the 4 primary bases. This will lead to better knowledge of cell function, have important implications in stem cell research, personalised and regenerative medicines, and show substantial commercial utility. All cells in the body have the same DNA sequence but its interpretation (epigenetics) results in formation of different cell types. 5-mC is a well-known epigenetic mark, but the function of 5-hmC is as yet unknown. Our method specifically locates and quantifies these epigenetic marks together in DNA. We will optimise this method to allow its commercial use more widely on more difficult cell types and the whole human genome. Decoding these epigenetic marks will provide greater understanding of cell regulation and could open up new ways of diagnosing disease.
 
Description The research allowed the ultimate development of the TrueMethylTM Kit, which is currently being used to map methylation and hydroxymethylation within the human and other genomes. The importance of epigenetic markers such as 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) is still currently under intense investigation but links between changes in epigenetic marks and disease states such as cancer are well established.
Exploitation Route The use of the kit will allow investigators to sequence 5hmC in genomes at single base resolution. 5hmC has been shown to have a link to certain cancers. Academic researchers are currently using this method to understand the role and occurrence of such epigenetic marks, which may ultimately lead to a diagnostic role in the clinic for such technology.
Sectors Healthcare,Pharmaceuticals and Medical Biotechnology
 
Description Experimental details and summary of kit produced TrueMethylTM Kit is currently being used to map methylation and hydroxymethylation within the human and other genomes. The importance of epigenetic markers such as 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) is still currently under intense investigation but links between changes in epigenetic marks and disease states such as cancer are well established. Further, understanding of these epigenetic marks will translate into better diagnoses and stratified treatment for disease, primarily cancer.
First Year Of Impact 2013
Sector Pharmaceuticals and Medical Biotechnology
Impact Types Societal,Economic
 
Title TrueMethyl Kit 
Description A kit has been developed (TrueMethyl) and released in August 2013 by Cambridge Epigenetix Ltd, a spin-out company from the University of Cambridge. This is based on original work from Booth MJ, Branco MR, Ficz G, Oxley D, Krueger F, Reik W, Balasubramanian S, Quantitative Sequencing of 5-Methylcytosine and 5-Hydroxymethylcytosine at Single-Base Resolution. Science, 2012, 336(6083), 934-37. 
Type Of Technology New/Improved Technique/Technology 
Year Produced 2012 
Impact No actual Impacts realised to date 
 
Company Name Cambridge Epigenetix 
Description Cambridge Epigenetix (CEGX) employs expertise in chemical biology to develop ground-breaking epigenetics tools. 
Year Established 2012 
Impact CEGX's TrueMethyl kits utilize innovative oxBS-Seq technology, developed at the University of Cambridge, to pioneer quantitative, single-base resolution sequencing of 5-hydroxymethylcytosine (5hmC) & 5-methylcytosine (5mC). The TrueMethyl kits are now provided by NuGen, in partnership with CEGX.
Website http://www.cambridge-epigenetix.com