My lab has been involved in many aspects of epigenetics (cell-inherited changes in DNA methylation and chromatin) to elucidate human development and disease. Our previous research on epigenetics included the following:
- the first report of 5-methylcytosine (the fifth base in human DNA) increasing the stability of the double helix;
- the discovery of N4-methycytosine in bacterial DNA;
- the first demonstration of tissue-specific differences in overall levels of DNA methylation in humans;
- one of the first two reports (1983) of changes in DNA methylation in human cancers, which is now one of the most active areas of cancer research for diagnostics, prognostics, and treatment development;
- the first report of a human protein that preferentially binds to methylated DNA sequences;
- the first whole-genome expression analysis in an inherited disease characterized by too little DNA methylation (the immunodeficiency, centromeric region abnormality, facial anomalies, ICF syndrome);
- insights into myotonic dystrophy type 1 from epigenetics (with graduate student, Lauren Buckley, 2016)
- insights into the functions of 5-hydroxymethylcytosine, the naturally occurring sixth base in human DNA.
Currently, we are continuing our research on the epigenetics of genes that are specifically upregulated or downregulated in skeletal muscle and skeletal muscle progenitor cells (myoblasts) as well as associations with abnormal methylation of some of these genes in cancer. We are also studying links between epigenetics and cardiovascular disease and have begun two large multi-investigator studies of epigenetics and osteoporosis in collaboration with Drs. Hong-Wen Deng and Hui Shen.
Epigenetics Society: free membership for faculty, postdocs, & students:
Melanie Ehrlich, President
Publications and Current Grants