Lymphopenia in the BB Rat Model of Type 1 Diabetes is Due to a Mutation in a Novel Immune-Associated Nucleotide (Ian)-Related Gene

• DOI: 10.1101/gr.412702
• Publication Date: 2002-07-28T22:41:43Z
• Authors: Armand J. MacMurray; Daniel H. Moralejo; Anne E. Kwitek; Elizabeth A. Rutl...; Brian Van Yserloo; Paul Gohlke; Sara J. Speros; Ben Snyder; Jonathan Schaefer; Sabine Bieg; Jianjie Jiang; Ruth A. Ettinger; Jessica Fuller; Terri L. Daniels; Anna Pettersson; Kimberly Orlebeke; Bruce Birren; Howard J. Jacob; Eric S. Lander; Åke Lernmark
• Keywords: Positional cloning

The BB (BioBreeding) rat is one of the best models spontaneous autoimmune diabetes and used to study non-MHC loci contributing Type 1 diabetes. in diabetes-prone (BBDP) polygenic, dependent upon mutations at several loci. Iddm1 , on chromosome 4, responsible for a lymphopenia ( lyp ) phenotype essential In this study, we report positional cloning Iddm1/lyp locus. We show that due frameshift deletion novel member Ian5 Immune-Associated Nucleotide (IAN)-related gene family, resulting truncation significant portion protein. This mutation was absent 37 other inbred strains are nonlymphopenic nondiabetic. IAN lying within tight cluster mouse 6, human 7, poorly characterized. Some members family have been shown be expressed mature T cells switched during thymic T-cell development, suggesting may key factor development. thus useful not only elucidate diabetes, but also function Ian as whole. [Sequence data reported paper has deposited GenBank assigned following accession nos: AF517674 AF517675 AF517676 AF517677 . Supplemental material available online http://depts.washington.edu/rhwlab/ http: www.genome.org ] individuals institutions kindly provided reagents, samples, or unpublished information indicated paper: K. Matsumoto Sir Frederick Banting Research Centre.