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

    Casey L. Moulson, Daniel R. Martin, Jesse J. Lugus, Jean E. Schaffer, Anne C. Lind, Jeffrey H. Miner
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    TLDR Fatty acid transport protein 4 is essential for 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.
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