Down Syndrome Critical Region Gene 3 (DSCR3)

Down syndrome, which is characterized by distinct facial and physical features and mental retardation, is caused by trisomy 21 and is the most common birth defect. The Down syndrome critical region (DSCR) extends from DNA marker D21S55 to ERG in 21q22.2.

By GRAIL analysis of a DSCR contig, searching an EST database, and RT-PCR, Nakamura et al. (1997) identified a cDNA encoding DSCR3, which they termed DCRA. The deduced 297-amino acid DSCR3 protein is 92% identical to mouse Dscr3. Northern blot analysis detected a 3.3-kb DSCR3 transcript in fetal brain, heart, lung, liver, and kidney, and adult brain, heart, placenta, lung, liver, skeletal muscle, kidney, and pancreas; a 4-kb transcript was also detected in adult skeletal muscle.