Mutations in the gene encoding SLURP-1 in Mal de Meleda

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Serval ID
serval:BIB_D059AA26481D
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Mutations in the gene encoding SLURP-1 in Mal de Meleda
Journal
Human Molecular Genetics
Author(s)
Fischer  J., Bouadjar  B., Heilig  R., Huber  M., Lefevre  C., Jobard  F., Macari  F., Bakija-Konsuo  A., Ait-Belkacem  F., Weissenbach  J., Lathrop  M., Hohl  D., Prud'homme  J. F.
ISSN
0964-6906 (Print)
Publication state
Published
Issued date
04/2001
Volume
10
Number
8
Pages
875-80
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Apr 1
Abstract
Mal de Meleda (MDM) is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions, perioral erythema, brachydactyly and nail abnormalities. We report the refinement of our previously described interval of MDM on chromosome 8qter, and the identification of mutations in affected individuals in the ARS (component B) gene, encoding a protein named SLURP-1, for secreted Ly-6/uPAR related protein 1. This protein is a member of the Ly-6/uPAR superfamily, in which most members have been localized in a cluster on chromosome 8q24.3. The amino acid composition of SLURP-1 is homologous to that of toxins such as frog cytotoxin and snake venom neurotoxins and cardiotoxins. Three different homozygous mutations (a deletion, a nonsense and a splice site mutation) were detected in 19 families of Algerian and Croatian origin, suggesting founder effects. Moreover, one of the common haplotypes presenting the same mutation was shared by families from both populations. Secreted and receptor proteins of the Ly-6/uPAR superfamily have been implicated in transmembrane signal transduction, cell activation and cell adhesion. This is the first instance of a secreted protein being involved in a PPK.
Keywords
Amino Acid Sequence Antigens, Ly/*genetics Base Sequence Chromosome Mapping DNA, Complementary Gene Expression Humans Keratoderma, Palmoplantar/*genetics/physiopathology Linkage (Genetics) Molecular Sequence Data *Mutation Urinary Plasminogen Activator/*genetics
Pubmed
Web of science
Open Access
Yes
Create date
25/01/2008 16:35
Last modification date
25/09/2019 6:10
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