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Scientists find gene linked to congenital heart defect
Date:12/6/2010

ewhere. "These findings would not have been possible without the collaborations between the three groups," Zohn added.

The collaboration started several years ago when Zohn contacted Burdine, a renowned expert in the study of left-right patterning in animals. Developmental biologists such as Burdine investigate what factors contribute to patterns in vertebrates relating to symmetry and leading to where organs are placed in the spatial configuration of the body. In humans and many animals, for example, the heart is usually situated on the left side with the liver at its lower right. Flaws in left-right patterning can lead to congenital heart defects in humans.

It is estimated that one in 10,000 people have a condition known as situs inversus, when the left-to-right patterning in the body is switched. In most cases, there are no adverse consequences of this condition, but problems arise when perturbations in the patterning signals produce reversals within organs, including heart structures such as the aorta and pulmonary artery. In rare circumstances, the heart can be located on one side without any supporting structures around it such as arteries and veins. That condition can be fatal.

Zohn and her research team had found a gene in mice that, when mutated, appeared to lead to disruptions in left-right patterning causing heart defects. She asked Burdine if she could locate a similar gene in zebrafish. When Burdine studied the mouse gene found by Zohn's team and its location in the spool of genetic matter known as the genome, Burdine realized that her team knew of a gene mutation in zebrafish that was in the same general area of the zebrafish genome. Upon further study, however, Burdine and her team found that the mouse and zebrafish genes were not only in the same general area of their relative genomes -- they were the same gene.

At that point, the teams tracked where the genes were expressed in mice and fish to better understand
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Contact: Kitta MacPherson
kittamac@princeton.edu
609-258-5729
Princeton University
Source:Eurekalert  

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Scientists find gene linked to congenital heart defect
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