Research

Deletion of ETS-1, a gene in 11q, causes a spectrum of congenital heart defects in mice paralleling those that occur in Jacobsen syndrome.

 

 

3-D cardiac MRI reconstruction of a normal mouse heart (left), and a heart from a mouse in which the ETS-1 gene has been deleted (right).

 

 

 

 

 Deletion of ETS-1 causes decreased cardiac neural crest cell number and migration distance in mice. 

 

 

Model for how deletion of the RICS gene causes autism in Jacobsen syndrome. Treatment of RICS-deficient mice with a commonly used anti-anxiety drug eliminates the autistic features in these mice.

 

We have identified at least four loci in distal 11q that when deleted individually or in combination, cause intellectual disability. Deletion of locus III is associated with autism. BSX: Brain-Specific Homeobox protein; Ngn: Neurogranin; RICS: RhoGAP involved in the β-catenin-N-cadherin and NMDA receptor signaling.