Human Molecular Genetics, Vol 6, 465-472, Copyright © 1997 by Oxford University Press
YK Wang, CH Samos, R Peoples, LA Perez-Jurado, R Nusse and U Francke
Williams syndrome (WS) is a developmental disorder with a characteristic
personality and cognitive profile that is associated, in most cases, with a
2 Mb deletion of part of chromosome band 7q11.23. By applying CpG island
cloning methods to cosmids from the deletion region, we have identified a
new gene, called FZD3. Dosage blotting of DNA from 11 WS probands confirmed
that it is located within the commonly deleted region. Sequence comparisons
revealed that FZD3, encoding a 591 amino acid protein, is a novel member of
a seven transmembrane domain receptor family that are mammalian homologs of
the Drosophila tissue polarity gene frizzled. FZD3 is expressed
predominantly in brain, testis, eye, skeletal muscle and kidney. Recently,
frizzled has been identified as the receptor for the wingless (wg) protein
in Drosophila. We show that Drosophila as well as human cells, when
transfected with FZD3 expression constructs, bind Wg protein. In mouse, the
wg homologous Wnt1 gene is involved in early development of a large domain
of the central nervous system encompassing much of the midbrain and rostral
metencephalon. The potential function of FZD3 in transmitting a Wnt protein
signal in the human brain and other tissues suggests that heterozygous
deletion of the FZD3 gene could contribute to the WS phenotype.
ARTICLES
A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23
Howard Hughes Medical Institute, Stanford University Medical Center, CA 94305, USA.
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