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Researchers identify gene that controls formation of heart chambers

DALLAS April 1, 2002 Scientists at UT Southwestern Medical Center at Dallas and their colleagues at UT Austin have identified a gene that controls formation of the hearts ventricles a finding that may eventually lead to preventing some of the most lethal heart defects in American children.

We found that the gene named Bop is the primary controller in a cascade of genetic events that include activating another gene, Hand2, that we previously found to be fundamental to the formation of the right ventricle and proper development of the left ventricle, said Dr. Deepak Srivastava, associate professor of pediatrics and molecular biology at UT Southwestern.

Dr. Paul D. Gottlieb, professor of molecular genetics and microbiology at UT Austin and a principal investigator on the study, said, We had previously discovered that Bop was in the mouse immune systems T cells, or bone marrow white cells, and in adult heart and skeletal muscle cells. But it wasnt clear what its function was. Now we know that Bop encodes a protein instrumental in controlling the early steps of embryonic cells differentiating into mature cardiac muscle cells.

Srivastava, senior author of the study and holder of the Joel B. Steinberg, M.D., Chair in Pediatrics at UT Southwestern, said, We have taken a critical step along the ongoing path to developing preventives for heart defects affecting nearly one out of 100 American children.

The study, to be posted April 1 on the Nature Genetics Web site and published in the journals May 1 issue, reports that deleting Bop in mouse embryos consistently disrupted maturation of heart-muscle cells and stymied formation of the right ventricle.

The findings should be applicable to humans, Srivastava said, because genetic parallels can be found in heart development among all animal species, including the fruit fly.

Thats the beauty of the heart: Its at the core of survival and the pressures for survival. Hence the genetic
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Contact: Worth Wren Jr.
Worth.Wren@UTSouthwestern.edu
214-648-3404
UT Southwestern Medical Center
31-Mar-2002


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