We are interested in identifying genetic and epigenetic variants that contribute to evolution and disease. We have developed multiple genomic and epigenomic methods to study primate- and human-specific sequences that regulate gene transcription. Studies using these methods suggest the possibility that epigenetic variants, which can affect transcriptional states in a stable manner, may contribute to the inheritance of specific phenotypes. This is consistent with Darwinian selection if epigenetic states can be consistently transmitted through the germline for multiple generations.

Epigenetic inheritance is the inheritance of epigenetic variants independently of genome sequence. It has received much recent attention but remains of uncertain biological significance; it has been invoked to explain both the heritability not explained by genome-wide association studies (the so-called “missing heritability”), and the inheritance of phenotypes induced by environmental exposure.

Inheritance of epigenetic variants is very different from Mendelian inheritance; epigenetic information is more labile than genetic information, and there is no uniform mechanism to ensure its faithful transfer of from one generation to the next. Epigenetic information is also sensitive to, and may mediate the effects of, environmental change. We are pursuing multiple experimental lines to define the contribution of epigenetic information to phenotypic inheritance in complex organisms, and understand the mechanisms of intergenerational transfer of epigenetic information.

Areas of Research:

• The physical characteristic of germline epigenetic variation
• Determining the frequency of epigenetic inheritance in biological systems
• Mechanisms of transgenerational epigenetic inheritance of normal and disease phenotypes
• Stochastic gene expression in cell populations
• Precision medicine in children

Revised: Monday, September 19, 2016 11:13 AM