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The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

Item Type:Article
Title:The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia
Creators Name:Blaydon, D.C. and Ishii, Y. and O'Toole, E.A. and Unsworth, H.C. and Teh, M.T. and Rueschendorf, F. and Sinclair, C. and Hopsu-Havu, V.K. and Tidman, N. and Moss, C. and Watson, R. and de Berker, D. and Wajid, M. and Christiano, A.M. and Kelsell, D.P.
Abstract:Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive conditions in which the only presenting phenotype is the absence or severe hypoplasia of all fingernails and toenails. After determining linkage to chromosome 20p13, we identified homozygous or compound heterozygous mutations in the gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, in eight affected families. Rspo4 expression was specifically localized to developing mouse nail mesenchyme at embryonic day 15.5, suggesting a crucial role in nail morphogenesis.
Keywords:Amino Acid Sequence, Amino Acid Sequence Homology, Malformed Nails, Molecular Sequence Data, Mutation, Signal Transduction, Thrombospondins, Transgenic Mice, Wnt Proteins, Animals, Mice
Source:Nature Genetics
ISSN:1061-4036
Publisher:Nature Publishing Group (U.S.A.)
Volume:38
Number:11
Page Range:1245-1247
Date:November 2006
Official Publication:https://doi.org/10.1038/ng1883
PubMed:View item in PubMed

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