Understanding the ATPase domain of the epigenetic regulator Smchd1

Understanding the ATPase domain of the epigenetic regulator Smchd1

Project details

Mutations in the epigenetic regulator SMCHD1 are known to underlie the pathogenesis of a form of human muscular dystrophy called FSHD. Precisely how many of these mutations compromise SMCHD1 function remains unclear.

This project will use a range of cell-based and biochemical approaches to delve into the mechanism by which these mutations can perturb SMCHD1 function. This knowledge will be essential to devising new strategies to therapeutically combat FSHD.

Techniques used in this project: cell biology, molecular cloning including mutagenesis, recombinant protein production in bacteria and insect cell hosts, use of recombinant proteins in biochemical and structural studies, primary neural stem cell tissue culture, production of recombinant virus and quantitative gene expression analysis.

About our research

The Murphy and Blewitt groups work collaboratively to understand the structure and function of the intriguing epigenetic regulator, Smchd1, and how its mutation might cause FSHD. The Murphy lab focuses on understanding the form and function of the Smchd1 protein itself and the Blewitt lab on how it functions at the genomic level. A recent highlight from our collaboration is our paper in PNAS (Chen, PNAS 2015 epub Jun 19).


Dr Kelan Chen in the lab
Molecular Medicine division

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