Van der Woude Gene IRF6 Implicated in Skin Differentiation

Filed in archive Drugs, Vaccines and Therapeutics , Genomics, Proteomics and Bioinformatics on October 17, 2006

A few years ago, scientists have identified that the Interferon Regulatory Factor 6 (IRF6) gene is linked to the development of Van der Woude syndrome, a rare inherited form of cleft lip and palate. Two reports published in the advanced online publication of Nature Genetics discuss further roles of the IRF6, as a critical regulator of keratinocyte differentiation.

"Put simply, mutations of IRF6 in Van de Woude syndrome make the skin cells too sticky, so they stick to each other and other types of cell much sooner than they should resulting in these facial anomalies," said Professor Dixon.

"This unexpected role for IRF6 in skin development may mean it is involved in other medically important areas of biology such as cancer and wound healing.

Here are the abstracts of the two publications, for your reference:

• 
  Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch


• Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)

In a report, the authors suggest that these findings may lead to gene therapy techniques to treat cleft lip and palate, by targeting these genes during pregnancy. Read the full report from Science Daily.

[Photo: Lucile Packard Children's Hospital]