A. Pizzuti et al., CDNA CHARACTERIZATION AND CHROMOSOMAL MAPPING OF 2 HUMAN HOMOLOGS OF THE DROSOPHILA DISHEVELLED POLARITY GENE, Human molecular genetics, 5(7), 1996, pp. 953-958
The Drosophila dishevelled gene (dsh) encodes a secreted glycoprotein,
which regulates cell proliferation, acting as a transducer molecule f
or developmental processes, including segmentation and neuroblast spec
ification, We have isolated and characterized cDNA clones from two dif
ferent human dsh-homologous genes, designated as DVL-1 and DVL-3, DVC-
1 and DVL-3 putative protein products show 64% amino acid identity. Th
e DVL-1 product is 50% identical to dsh and 92% to a murine dsh homolo
gue (Dvl-1), Both human DVL genes are widely expressed in fetal and ad
ult tissues, including brain, lung, kidney, skeletal muscle and heart,
DVL-1 locus maps to chromosome 1p36 and DVL-3 to chromosome 3q27. DVL
-1 locus on chromosome 1 corresponds to the murine syntenic region whe
re Dvl-1 is located, DVL-1 and DVL-3 are members of a human dsh-like g
ene family which is probably involved in human development, Although t
he precise role of these genes in embryogenesis is only conjectural at
present, the structural and evolutionary characteristics suggest that
mutations at their loci may be involved in neural and heart developme
ntal defects.