Isolation of a Novel Human Gene from the Down Syndrome Critical Region of Chromosome 21q22.2
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Down syndrome is the most common birth defect, and is caused by trisomy 21. We identified a novel gene in the so-called Down syndrome critical region by means of computer-aided exon prediction and subsequent cDNA cloning. The gene, designated as <i>DCRA</i> (Down syndrome <i>C</i>ritical <i>R</i>egion gene <i>A</i>), consists of eight exons of 3, 252 by in total and encodes a large open reading frame of 297 amino acid residues. The open reading frame shows significant homology to Hβ58, a mouse gene essential for embryogenesis, PEPS, a yeast homologue of 11β58, and an expressed sequence tag of <i>Arabidopsis thariana</i>, suggesting that DCRA has some important function that has been conserved during the course of evolution. <i>DCRA</i> is expressed in most tissues examined, including fetal and adult brain, heart, lung, liver, and kidney. The cDNA of the <i>DCRA</i> mouse homologue, <i>Dcra</i>, was also cloned. It is 2, 157 by long and has an open reading frame of 297 amino acid residues, which shows 92% identity to human DCRA. <i>Dcra</i> is expressed in all the embryo and adult tissues examined.
- The Journal of Biochemistry
The Journal of Biochemistry 122(4), 872-877, 1997-10-01
The Japanese Biochemical Society