Alternative titles; symbols
HGNC Approved Gene Symbol: RIPPLY3
Cytogenetic location: 21q22.13 Genomic coordinates (GRCh38) : 21:37,006,150-37,019,662 (from NCBI)
By database analysis, followed by PCR and 5-prime and 3-prime RACE of fetal tissue cDNA libraries, Shibuya et al. (2000) cloned 4 splice variants of DSCR6, which they designated DSCR6a, DSCR6b, DSCR6c, and DSCR6d. The DSCR6a transcript encodes a deduced 190-amino acid protein; each of the other 3 encode deduced 106-amino acid proteins. PCR analysis detected DSCR6a expression only in fetal kidney. DSCR6b expression was detected in fetal kidney and fetal brain, and at very low levels in a few other tissues.
By searching for sequences similar to that of zebrafish Ripply1 (300575), Kawamura et al. (2005) identified DSCR6, which they called RIPPLY3. The deduced 190-amino acid human protein contains a WRPW tetrapeptide near its N terminus and a conserved domain of about 50 amino acids found in other Ripply proteins.
By genomic sequence analysis, Shibuya et al. (2000) mapped the DSCR6 gene to chromosome 21q22.2.
Kawamura, A., Koshida, S., Hijikata, H., Ohbayashi, A., Kondoh, H., Takada, S. Groucho-associated transcriptional repressor Ripply1 is required for proper transition from the presomitic mesoderm to somites. Dev. Cell 9: 735-744, 2005. [PubMed: 16326386] [Full Text: https://doi.org/10.1016/j.devcel.2005.09.021]
Shibuya, K., Kudoh, J., Minoshima, S., Kawasaki, K., Asakawa, S., Shimizu, N. Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2. Biochem. Biophys. Res. Commun. 271: 693-698, 2000. [PubMed: 10814524] [Full Text: https://doi.org/10.1006/bbrc.2000.2685]