Localization, cDNA sequence and genomic organization of the rat seipin gene (Bscl2) and sequence analysis in inbred rat models of Type 2 diabetes mellitus

Cytogenet Genome Res. 2002;98(1):71-4. doi: 10.1159/000068538.

Abstract

Mutations in the gene encoding seipin cause Berardinelli-Seip congenital lipodystrophy 2, with symptoms including near-absence of adipose tissue and altered glucose tolerance. Radiation hybrid analysis localized the seipin gene (Bscl2) in rat to a major quantitative trait locus in rat chromosome 1 linked to glucose intolerance in the Goto-Kakizaki (GK) rat model of Type 2 diabetes. We determined the genomic organization of Bscl2 and screened coding exons and flanking intron sequences for mutations in GK, Wistar and Brown Norway rats, as well as in the Otsuka Long-Evans Tokushima Fatty (OLETF) diabetic rat. Two silent single nucleotide polymorphisms that were identified also were found in non-diabetic rat strains. We conclude that mutations in the gene for seipin are unlikely to contribute to diabetes in GK and OLETF rats.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Chromosome Mapping
  • DNA Primers
  • DNA, Complementary / genetics*
  • Diabetes Mellitus, Type 2 / genetics*
  • Disease Models, Animal
  • GTP-Binding Protein gamma Subunits*
  • Heterotrimeric GTP-Binding Proteins / genetics*
  • Humans
  • Lipodystrophy / congenital
  • Lipodystrophy / genetics
  • Mice
  • Molecular Sequence Data
  • Rats
  • Rats, Inbred Strains
  • Sequence Alignment
  • Sequence Homology, Amino Acid

Substances

  • BSCL2 protein, human
  • DNA Primers
  • DNA, Complementary
  • GTP-Binding Protein gamma Subunits
  • Heterotrimeric GTP-Binding Proteins

Associated data

  • OMIM/606158