Mapping, characterization, and expression analysis of the SM-20 human homologue, C1orf12, and identification of a novel related gene, SCAND2

Major psychosis was shown to segregate with a balanced translocation (1q42. 1; 11q14.3) in a multigenerational family. This study describes the identif ication of a human SM-20 homologue gene that lies at about 400 kb on the ce ntromeric side of the 1q42.1 breakpoint. The full-length cDNA sequence and gene structure were determined. Expression analysis was performed, showing high expression levels in skeletal and cardiac muscles; in the central nerv ous system, expression was restricted to dopaminergic neurons and spinal mo toneurons. A second gene displaying high sequence similarity with SM-20 was also identified by BLAST. This gene, located on chromosome 15, is likely t o have evolved by retroposition of SM-20 mRNA and an exon-shuffling mechani sm. It encodes a 306-amino-acid protein harboring strong homology with an N -terminal moth found in some zinc-finger proteins. This gene was named SCAN D2 (SCAN domain-containing 2). (C) 2000 Academic Press.