title: Mapping, characterization, and expression analysis of the SM-20 human homologue, c1orf12, and identification of a novel related gene, SCAND2.
abstract: 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).
authors.affiliation: Laboratoire de Pathologie Moléculaire et Thérapie Génique, UMR CNRS 5541, Université Victor Segalen Bordeaux 2, 146 rue Léo Saignat, Bordeaux Cédex, 33076, France.
authors.forename: D
authors.initials: D
authors.lastname: Dupuy
authors.forename: I
authors.initials: I
authors.lastname: Aubert
authors.forename: V G
authors.initials: VG
authors.lastname: Dupérat
authors.forename: J
authors.initials: J
authors.lastname: Petit
authors.forename: L
authors.initials: L
authors.lastname: Taine
authors.forename: M
authors.initials: M
authors.lastname: Stef
authors.forename: B
authors.initials: B
authors.lastname: Bloch
authors.forename: B
authors.initials: B
authors.lastname: Arveiler
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002878:Chromosomes, Human, Pair 1; D002884:Chromosomes, Human, Pair 15; D003001:Cloning, Molecular; D020451:Contig Mapping; D018899:CpG Islands; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D005091:Exons; D015870:Gene Expression; D006801:Humans; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases; D017874:Immediate-Early Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D011393:Procollagen-Proline Dioxygenase; D011506:Proteins / Q000145:classification / Q000235:genetics*; D011544:Pseudogenes; D051381:Rats; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D016385:TATA Box; D016335:Zinc Fingers
chemical_list: D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D017874:Immediate-Early Proteins; D011506:Proteins; C418742:SCAND2P pseudogene, human; C490190:EGLN1 protein, human; D011393:Procollagen-Proline Dioxygenase; C087100:Egln3 protein, rat; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases