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Study finds genetic variant plays role in cleft lip
Date:10/6/2008

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The team used computational and biological approaches to conduct the study. First, with assistance from the NIH Intramural Sequencing Center at the National Human Genome Research Institute and based on previous University of Iowa research, the investigators used nonhuman DNA to predict potential regulatory sections around the gene in question.

Regulatory sections are separate from, but affect, the protein coding sections of genes. Regulatory sections are generally highly "conserved," meaning they have not changed much over evolution. However, one of the regulatory sections around IRF6 revealed a single nucleotide variant, so the team focused on the corresponding area in human DNA already identified by a previous UI graduate student.

Next, through a connection with the Lawrence Berkeley National Laboratory at the University of California, the variant was shown to reside in a regulatory element that controls IRF6 expression. The team then studied large DNA collections on cleft lip and palate and found that among nearly 3,000 families those with cleft lip only were far more likely to have the genetic variant.

"It was most striking that this variant was associated with clefts of the lip only," Rahimov said. "We always thought that cleft lip alone and cleft lip with cleft palate were the same disease. Now we see a difference and will analyze patients with cleft lip separately from those who have both cleft lip and palate."

The investigative work on AP2 involved collaboration between Rahimov and Michael Hitchler, Ph.D., currently a post-doctoral fellow at the University of Southern California and a recent graduate of the University of Iowa Graduate Program in Free Radical and Radiation Biology, who worked in Domann's lab. That lab was studying the role of AP2 in cancer, and so, already had developed research technology to study AP2 binding. Using this technology, the lab was able to rapidly provide evidence that AP2 w
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Contact: Becky Soglin
becky-soglin@uiowa.edu
319-335-6660
University of Iowa
Source:Eurekalert

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