Update: CECR2 gene characterization

November 12, 2012 in News by alexa

The CECR2 candidate gene has previously been characterized as a chromatin remodeller. Fairbridge et al. suggests that CECR2 has a “role in [the regulation of] mesenchymal and ectodermal transcription factors” [1]. Their study on mice demonstrated that 74% of mutations resulted in exencephaly with expression in the brain, spinal ganglia, and lens during development.

Further research is being performed.

 

References:

1. Fairbridge, N.A, et al., (2010). CECR2 mutations causing exencephaly tigger misregulation of mesenchymal/ectodermal transcription factors. 88(8), November 3, 2012. 619-625.