Mutations In AEC Syndrome Skin Reveal A Role For p63 In Basement Membrane Adhesion, Skin Barrier Integrity And Hair Follicle Biology
February 2012
in “
British Journal of Dermatology
”
p63 gene AEC syndrome epidermal adhesion skin barrier formation hair follicle biology basement membrane proteins FRAS1 collagen VII small proline-rich proteins late cornified envelope protein hornerin lipid transporters ALOX15B hair-associated keratins keratin 25 keratin 27 keratin 31 keratin 33B keratin 34 keratin 35 keratin 81 keratin 85 p63 AEC skin barrier hair keratins collagen 7
TLDR Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
This study investigated the impact of p63 gene mutations on gene and protein expression in AEC syndrome skin. Researchers found significant upregulation of 6 genes and downregulation of 69 genes, primarily affecting epidermal adhesion, skin barrier formation, and hair follicle biology. Notable reductions were observed in genes encoding basement membrane proteins (FRAS1, collagen VII), skin barrier proteins (small proline-rich proteins, late cornified envelope protein, hornerin), lipid transporters (ALOX15B), and hair-associated keratins (25, 27, 31, 33B, 34, 35, 81, 85). These findings provided new molecular insights into the AEC syndrome phenotype.
