西亚试剂：APCDD1 is a novel Wnt inhibitor mutated in hereditary hypot

APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
Yutaka Shimomura1,7, Dritan Agalliu3,7, Alin Vonica4,7, Victor Luria1,2,7, Muhammad Wajid1, Alessandra Baumer5, Serena Belli6, Lynn Petukhova1, Albert Schinzel5, Ali H. Brivanlou4, Ben A. Barres3  &  Angela M. Christiano1,2

1. Department of Dermatology,
2. Department of Genetics and Development, Columbia University, College of Physicians and Surgeons, 630 West 168th Street, VC15 204A, New York, New York 10032, USA
3. Department of Neurobiology, Stanford University, Stanford, California 94305, USA
4. The Laboratory of Vertebrate Embryology, The Rockefeller University, New York, New York 10065, USA
5. Institute of Medical Genetics, University of Zurich, Schwerzenbach CH-8603, Switzerland
6. Struttura Semplice Genetica Medica APSS, Trento 138100, Italy
7. These authors contributed equally to this work.

Hereditary hypotrichosis simplex is a rare autosomal dominant form of hair loss characterized by hair follicle miniaturization1, 2. Using genetic linkage analysis, we mapped a new locus for the disease to chromosome 18p11.22, and identified a mutation (Leu9Arg) in the adenomatosis polyposis down-regulated 1 (APCDD1) gene in three families. We show that APCDD1 is a membrane-bound glycoprotein that is abundantly expressed in human hair follicles, and can interact in vitro with WNT3A and LRP5—two essential components of Wnt signalling. Functional studies show that APCDD1 inhibits Wnt signalling in a cell-autonomous manner and functions upstream of β-catenin. Moreover, APCDD1 represses activation of Wnt reporters and target genes, and inhibits the biological effects of Wnt signalling during both the generation of neurons from progenitors in the developing chick nervous system, and axis specification in Xenopus laevis embryos. The mutation Leu9Arg is located in the signal peptide of APCDD1, and perturbs its translational processing from the endoplasmic reticulum to the plasma membrane. APCDD1(L9R) probably functions in a dominant-negative manner to inhibit the stability and membrane localization of the wild-type protein. These findings describe a novel inhibitor of the Wnt signalling pathway with an essential role in human hair growth. As APCDD1 is expressed in a broad repertoire of cell types3, our findings indicate that APCDD1 may regulate a diversity of biological processes controlled by Wnt signalling.

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