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Without this protein, embryonic development halts
Date:5/13/2010

a domain within the Tbx1 protein that, when not functioning properly, plays a key role in causing DiGeorge syndrome in a subset of patients.

The current study aimed to identify proteins that interact with Tbx1 in a functionally important way that could shed light on the pathogenesis of DiGeorge syndrome. Using a yeast and cell culture studies, the researchers pinpointed the Ash2l protein as interacting with Tbx1. They then generated Ash2l knockout mice to further investigate the role of the Ash2l protein. Mouse embryos that did not express Ash21 died early in gestationdemonstrating that the protein is necessary for early development.

"The crucial requirement of the Ash2l protein", said Stoller, "suggests that it likely acts to regulate many developmental genes in mammals. As part of a histone methyltransferase complex, it regulates gene transcription by epigenetic mechanisms".

Future clinical implications for children and adults with DiGeorge syndrome are yet unclear. These patients have a normal Ash2l gene, but the loss of Tbx1 may alter the interaction between Ash2l and Tbx1 and play a role in their disease, possibly by regulating downstream genes. Stoller added, "The fact that patients with this genetic syndrome are missing a copy of the Tbx1 gene suggests that reduced amounts of the Tbx1 protein may have biological effects that cause different features of the disease. Further research is needed to discover these specific mechanisms."

Dr. Steven R. Goodman, Editor-in-Chief of Experimental Biology and Medicine, said "Stoller et al have demonstrated that protein Ash2l is essential in early embryogenesis. Ash2l interacts with the transcription factor Tbx1 which resides in a chromosomal region commonly deleted in DiGeorge syndrome. This interesting study suggests possible mechanisms leading to congenital heart disease in DiGeorge syndrome."


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Contact: John Ascenzi
ascenzi@email.chop.edu
267-426-6055
Society for Experimental Biology and Medicine
Source:Eurekalert

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