First Author | Dupuy D | Year | 2000 |
Journal | Genomics | Volume | 69 |
Issue | 3 | Pages | 348-54 |
PubMed ID | 11056053 | Mgi Jnum | J:65642 |
Mgi Id | MGI:1927004 | Doi | 10.1006/geno.2000.6343 |
Citation | Dupuy D, et al. (2000) Mapping, characterization, and expression analysis of the SM-20 human homologue, c1orf12, and identification of a novel related gene, SCAND2. Genomics 69(3):348-54 |
abstractText | Major psychosis was shown to segregate with a balanced translocation (1q42.1; 11q14.3) in a multigenerational family. This study describes the identification of a human SM-20 homologue gene that lies at about 400 kb on the centromeric 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 nervous system, expression was restricted to dopaminergic neurons and spinal motoneurons. A second gene displaying high sequence similarity with SM-20 was also identified by BLAST. This gene, located on chromosome 15, is likely to have evolved by retroposition of SM-20 mRNA and an exon-shuffling mechanism. It encodes a 306-amino-acid protein harboring strong homology with an N-terminal motif found in some zinc-finger proteins. This gene was named SCAND2 (SCAN domain-containing 2). Copyright 2000 Academic Press. |