Human Molecular Genetics Advance Access published online on September 23, 2003
Human Molecular Genetics, doi:10.1093/hmg/ddg320
© 2003 by Oxford University Press
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1 Laboratory for Cutaneous Biology, Dermatology Unit, CHUV, Lausanne, Switzerland
* To whom correspondence should be addressed. E-mail: Daniel.Hohl{at}hospvd.ch.
Mal de Meleda is an autosomal recessive inflammatory and keratotic palmoplantar skin disorder due to mutations in the ARS B gene, encoding for SLURP-1 (secreted mammalian Ly-6/uPAR-related protein 1). SLURP-1 belongs to the Ly-6/uPAR superfamily of receptor and secreted proteins, which participate in signal transduction, immune cell activation or cellular adhesion. The high degree of structural similarity between SLURP-1 and the three fingers motif of snake neurotoxins and Lynx1 suggests that this protein interacts with the neuronal acetylcholine receptors. We found that SLURP-1 potentiates the human
Article
Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda
2 Dept of Physiology, CMU, Geneva, Switzerland
3 Division of Hypertension and Vascular Medicine, CHUV, Lausanne, Switzerland
4 Centre National de Génotypage, Evry, France
5 Laboratory for Cutaneous Biology, Dermatology Unit, Beaumont Hospital, CHUV-BT 437, CH-1011 Lausanne, Switzerland
Abstract 
7 nicotinic acetylcholine receptors that are present in keratinocytes. These results identify SLURP-1 as a secreted epidermal neuromodulator which is likely to be essential for both epidermal homeostasis and inhibition of TNF-alpha ?release by macrophages during wound healing. This explains both the hyperproliferative as well as the inflammatory clinical phenotype of Mal de Meleda.
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