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

Journal article

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: Kaisaki, P; Sebag-Montefiore, L; Brown, J; Magre, J; Lathrop, M

• Publication status: Published
• Journal: Cytogenetic and genome research
• Volume: 98
• Issue: 1
• Pages: 71-74
• Publication date: 2002-01-01
• DOI: 10.1159/000068538
• EISSN: 1424-859X
• ISSN: 1424-8581
• Language: English
• Keywords: Sequence Alignment; GTP-Binding Protein gamma Subunits; Animals; Chromosome Mapping; Molecular Sequence Data; Heterotrimeric GTP-Binding Proteins; Sequence Homology, Amino Acid; Rats; Rats, Inbred Strains; Mice; DNA Primers; Diabetes Mellitus, Type 2; Disease Models, Animal; Humans; Base Sequence; DNA, Complementary; Lipodystrophy; Amino Acid Sequence