Cloning of Wrinkle-Free, a Previously Uncharacterized Mouse Mutation, Reveals Crucial Roles for Fatty Acid Transport Protein 4 in Skin and Hair Development

The study identified a spontaneous mouse mutation called wrinkle-free (wrfr) that caused tight, thick skin and severe breathing difficulties, leading to death shortly after birth. This condition resembled the human disorder restrictive dermopathy. The wrfr mice had a defective skin barrier and impaired hair growth. Positional cloning revealed that the mutation was due to a retrotransposon insertion in the Slc27a4 gene, which encodes fatty acid transport protein 4 (FATP4). This protein, primarily involved in dietary fatty acid uptake, was found to play a crucial role in skin and hair development, suggesting Slc27a4 as a candidate gene for restrictive dermopathy.