title: Localization, cDNA sequence and genomic organization of the rat seipin gene (Bscl2) and sequence analysis in inbred rat models of Type 2 diabetes mellitus.
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.
authors.affiliation: The Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, United Kingdom. pamela.kaisaki@well.ox.ac.uk
authors.forename: P J
authors.initials: PJ
authors.lastname: Kaisaki
authors.forename: L M
authors.initials: LM
authors.lastname: Sebag-Montefiore
authors.forename: J H
authors.initials: JH
authors.lastname: Brown
authors.forename: J
authors.initials: J
authors.lastname: Magre
authors.forename: M
authors.initials: M
authors.lastname: Lathrop
authors.forename: J
authors.initials: J
authors.lastname: Capeau
authors.forename: D
authors.initials: D
authors.lastname: Gauguier
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D017931:DNA Primers; D018076:DNA, Complementary / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D004195:Disease Models, Animal; D044388:GTP-Binding Protein gamma Subunits; D020962:Heterotrimeric GTP-Binding Proteins / Q000235:genetics*; D006801:Humans; D008060:Lipodystrophy / Q000151:congenital / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D051381:Rats; D011919:Rats, Inbred Strains; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
chemical_list: C432679:BSCL2 protein, human; D017931:DNA Primers; D018076:DNA, Complementary; D044388:GTP-Binding Protein gamma Subunits; D020962:Heterotrimeric GTP-Binding Proteins