Alternative titles; symbols
HGNC Approved Gene Symbol: DVL1P1
Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,253,131-19,253,469 (from NCBI)
Pizzuti et al. (1996) reported the isolation of human cDNAs homologous to the Drosophila 'dishevelled' (dsh) segment-polarity gene. Sequences homologous to the 3-prime untranslated region of these transcripts were positioned within the DiGeorge syndrome critical region (188400) on chromosome 22q11 and were found to be deleted in DGS patients. The human gene, designated DVL (dishevelled-like) by the authors, was found to be expressed in several fetal and adult tissues, including thymus and, at high levels, heart. Transcripts of 3.2 kb and 5 kb were detected by Northern blot analysis; different expression patterns were detected in the surveyed tissues when different cDNAs were used. Pizzuti et al. (1996) found that the isolated cDNAs exhibited high amino acid homology with the mouse and Xenopus Dvl-1 gene, the only other vertebrate dsh homologs isolated at that time.
Pizzuti et al. (1996) identified the DVL1L1 gene on chromosome 22q11.
In Drosophila, the dsh gene is required for establishment of fly embryonic segments (Perrimon and Mahowald, 1987). Pizzuti et al. (1996) stated that its pivotal role in fly development suggests an analogous key function of its homologous genes in vertebrate embryogenesis.
Perrimon, N., Mahowald, A. P. Multiple functions of segment polarity genes in Drosophila. Dev. Biol. 119: 587-600, 1987. [PubMed: 3803719] [Full Text: https://doi.org/10.1016/0012-1606(87)90061-3]
Pizzuti, A., Novelli, G., Mari, A., Ratti, A., Colosimo, A., Amati, F., Penso, D., Sangiuolo, F., Calabrese, G., Palka, G., Silani, V., Gennarelli, M., Mingarelli, R., Scarlato, G., Scambler, P., Dallapiccola, B. Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome. Am. J. Hum. Genet. 58: 722-729, 1996. [PubMed: 8644734]