Mapping, Characterization, and Expression Analysis of the SM-20 Human Homologue, c1orf12, and Identification of a Novel Related Gene, SCAND2

Genomics. 2000 Nov 1;69(3):348-54. doi: 10.1006/geno.2000.6343.

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).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 15*
  • Cloning, Molecular
  • Contig Mapping
  • CpG Islands
  • DNA, Complementary
  • DNA-Binding Proteins*
  • Exons
  • Gene Expression
  • Humans
  • Hypoxia-Inducible Factor-Proline Dioxygenases
  • Immediate-Early Proteins / genetics*
  • Molecular Sequence Data
  • Procollagen-Proline Dioxygenase
  • Proteins / classification
  • Proteins / genetics*
  • Pseudogenes
  • Rats
  • Sequence Homology, Amino Acid
  • Sequence Homology, Nucleic Acid
  • TATA Box
  • Zinc Fingers*

Substances

  • DNA, Complementary
  • DNA-Binding Proteins
  • Immediate-Early Proteins
  • Proteins
  • SCAND2P pseudogene, human
  • EGLN1 protein, human
  • Procollagen-Proline Dioxygenase
  • Egln3 protein, rat
  • Hypoxia-Inducible Factor-Proline Dioxygenases

Associated data

  • GENBANK/AF229245
  • GENBANK/AF229246
  • GENBANK/AF244812
  • GENBANK/AF246630
  • GENBANK/AF246631