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Researchers Isolate Gene For Heart And Facial Defects

100 births.

Over the last 10 years, many researchers have examined the deleted region of chromosome 22 trying to identify the gene responsible for the anomalies. Last year Srivastava and his colleagues, who have been studying cardiac development, noticed that mutant mice with improper heart development had characteristics similar to those found with the chromosome 22 deletion. These mice lacked a small protein and also had a less-than-normal amount of an important cardiac- gene regulator, dHAND, whose job is to turn heart-specific genes on and off. But the human genes for these proteins did not lie on chromosome 22.

"We suspected that the heart-regulatory protein, dHAND, was probably somehow involved with the critical gene on chromosome 22," said Srivastava, an attending cardiologist at Children's Medical Center of Dallas. "So we looked for genes that were regulated by dHAND."

They identified several genes found in mice with normal hearts but missing in those with mutant dHAND genes. The human corresponding copy of one of those genes, UFD1, is located on chromosome 22 in the region that is missing in the 22q11 deletion.

Using molecular techniques, the researchers looked in mice to see where the gene is active. They found that UFD1 normally was turned on in mice in the tissues that are affected in children with the 22q11 deletion. Next they turned to humans and examined the deoxyribonucleic acid (DNA) from 182 chromosome 22 deletion patients to see if the UFD1 gene was missing. All 182 lacked one copy of the gene. Srivastava believes that having only half the normal amount of this gene leads to a dysregulation of the quantity of critical proteins involved in the formation of cardiac and craniofacial structures.

Because the syndrome includes a broad variety of defects and not all patients are the same, it is possible that other genes in this region are also involved in some features. The patient with a single UFD1 gene also h
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Contact: Heather Stieglitz
heather.stieglitz@email.swmed.edu
214-648-3404
UT Southwestern Medical Center
19-Feb-1999


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