Down Syndrome Critical Region Gene 6 (DSCR6)

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, 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.