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

Chromosome 22q11 deletion syndrome (also known as DiGeorge syndrome) is the most common human chromosome deletion syndrome, having an estimated incidence of at least one in 4,000 live births. It has a range of severity but a multisystem impact, with symptoms that may include congenital heart defects, immunologic and endocrine abnormalities, cleft palate, gastrointestinal problems, and neuropsychiatric abnormalities.

Nearly three-quarters of patients identified with this deletion syndrome have cardiac defects, and research into the underlying biology of this disorder has uncovered new knowledge of biological processes in both congenital heart disease and early embryonic development.

In the May 2010 issue of Experimental Biology and Medicine, Jason Z. Stoller, M.D., of The Children's Hospital of Philadelphia, collaborating with Jonathan A. Epstein, M.D., scientific director of the Penn Cardiovascular Institute of the University of Pennsylvania, report on an important interaction of two proteins, Ash2l and Tbx1, during early mammalian development. "In humans and other mammals, the heart is among the first organs to develop," said Stoller. "Greater knowledge of biological events that occur in the earliest stages of development helps us to better understand both normal and abnormal heart development."

In cell and animal studies, the researchers discovered that Ash2l, a core component of a protein complex responsible for epigenetic modifications, is absolutely essential to early embryogenesis; without this protein, mouse embryos did not survive past the first few days of gestation.

The region of chromosome 22 that is most commonly lost in DiGeorge syndrome contains more than 30 genes, among them the gene for the transcription factor Tbx1. The Tbx family of nuclear transcription factor proteins shares a T-box, a conserved DNA binding domain that mediates regulation of downstream genes. In 2005, Epstein and Stoller identified
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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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