SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda
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SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda. / Favre, Bertrand; Plantard, Laure; Aeschbach, Lorène; Brakch, Noureddine; Christen-Zaech, Stephanie; de Viragh, Pierre A; Sergeant, Ann; Huber, Marcel; Hohl, Daniel.
In: Journal of Investigative Dermatology, Vol. 127, No. 2, 02.2007, p. 301-8.Research output: Contribution to journal › Journal article › Research › peer-review
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T1 - SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda
AU - Favre, Bertrand
AU - Plantard, Laure
AU - Aeschbach, Lorène
AU - Brakch, Noureddine
AU - Christen-Zaech, Stephanie
AU - de Viragh, Pierre A
AU - Sergeant, Ann
AU - Huber, Marcel
AU - Hohl, Daniel
PY - 2007/2
Y1 - 2007/2
N2 - SLURP1 is a secreted member of the LY6/PLAUR protein family. Mutations in the SLURP1 gene are the cause of Mal de Meleda (MDM), a rare autosomal recessive genetic disease, characterized by inflammatory palmoplantar keratoderma. In this study, we have analyzed the expression of SLURP1 in normal and MDM skin. SLURP1 was found to be a marker of late differentiation, predominantly expressed in the granular layer of skin, notably the acrosyringium. Moreover, SLURP1 was also identified in several biological fluids such as sweat, saliva, tears, and urine from normal volunteers. In palmoplantar sections from MDM patients, as well as in their sweat, mutant SLURP1, including the new variant R71H-SLURP1, was either absent or barely detectable. Transfected human embryonic kidney 293T cells expressed the MDM mutant SLURP1 containing the single amino-acid substitution G86R but did not tolerate the MDM mutation W15R located in the signal peptide. Thus, most MDM mutations in SLURP1 affect either the expression, integrity, or stability of the protein, suggesting that a simple immunologic test could be used as a rapid screening procedure.
AB - SLURP1 is a secreted member of the LY6/PLAUR protein family. Mutations in the SLURP1 gene are the cause of Mal de Meleda (MDM), a rare autosomal recessive genetic disease, characterized by inflammatory palmoplantar keratoderma. In this study, we have analyzed the expression of SLURP1 in normal and MDM skin. SLURP1 was found to be a marker of late differentiation, predominantly expressed in the granular layer of skin, notably the acrosyringium. Moreover, SLURP1 was also identified in several biological fluids such as sweat, saliva, tears, and urine from normal volunteers. In palmoplantar sections from MDM patients, as well as in their sweat, mutant SLURP1, including the new variant R71H-SLURP1, was either absent or barely detectable. Transfected human embryonic kidney 293T cells expressed the MDM mutant SLURP1 containing the single amino-acid substitution G86R but did not tolerate the MDM mutation W15R located in the signal peptide. Thus, most MDM mutations in SLURP1 affect either the expression, integrity, or stability of the protein, suggesting that a simple immunologic test could be used as a rapid screening procedure.
KW - Antigens, Ly
KW - Biological Markers
KW - Calcium
KW - Cell Differentiation
KW - Cells, Cultured
KW - Epidermis
KW - Humans
KW - Keratinocytes
KW - Keratoderma, Palmoplantar
KW - Mutation
KW - Skin
KW - Urokinase-Type Plasminogen Activator
U2 - 10.1038/sj.jid.5700551
DO - 10.1038/sj.jid.5700551
M3 - Journal article
C2 - 17008884
VL - 127
SP - 301
EP - 308
JO - Journal of Investigative Dermatology
JF - Journal of Investigative Dermatology
SN - 0022-202X
IS - 2
ER -
ID: 45161518