Lymphopenia in the BB rat model of type 1 diabetes is due to a mutation in a novel immune-associated nucleotide (Ian)-related gene

Genome Res. 2002 Jul;12(7):1029-39. doi: 10.1101/gr.412702.

Abstract

The BB (BioBreeding) rat is one of the best models of spontaneous autoimmune diabetes and is used to study non-MHC loci contributing to Type 1 diabetes. Type 1 diabetes in the diabetes-prone BB (BBDP) rat is polygenic, dependent upon mutations at several loci. Iddm1, on chromosome 4, is responsible for a lymphopenia (lyp) phenotype and is essential to diabetes. In this study, we report the positional cloning of the Iddm1/lyp locus. We show that lymphopenia is due to a frameshift deletion in a novel member (Ian5) of the Immune-Associated Nucleotide (IAN)-related gene family, resulting in truncation of a significant portion of the protein. This mutation was absent in 37 other inbred rat strains that are nonlymphopenic and nondiabetic. The IAN gene family, lying within a tight cluster on rat chromosome 4, mouse chromosome 6, and human chromosome 7, is poorly characterized. Some members of the family have been shown to be expressed in mature T cells and switched on during thymic T-cell development, suggesting that Ian5 may be a key factor in T-cell development. The lymphopenia mutation may thus be useful not only to elucidate Type 1 diabetes, but also in the function of the Ian gene family as a whole.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Animals, Congenic / genetics
  • Apoptosis Regulatory Proteins
  • Diabetes Mellitus, Type 1 / complications
  • Diabetes Mellitus, Type 1 / genetics*
  • Disease Models, Animal*
  • GTP-Binding Proteins / biosynthesis
  • GTP-Binding Proteins / genetics*
  • Hematopoietic Stem Cells / chemistry
  • Hematopoietic Stem Cells / metabolism
  • Humans
  • Lymphopenia / etiology
  • Lymphopenia / genetics*
  • Mice
  • Molecular Sequence Data
  • Protein Tyrosine Phosphatase, Non-Receptor Type 1
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22
  • Protein Tyrosine Phosphatases / genetics
  • Rats
  • Rats, Inbred BB
  • Rats, Inbred F344
  • Rats, Inbred LEC
  • Rats, Inbred OLETF
  • Sequence Deletion / genetics*

Substances

  • Apoptosis Regulatory Proteins
  • GIMAP4 protein, human
  • Ian1 protein, mouse
  • PTPN22 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 1
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22
  • Protein Tyrosine Phosphatases
  • Ptpn22 protein, mouse
  • GTP-Binding Proteins

Associated data

  • GENBANK/AF517674
  • GENBANK/AF517675
  • GENBANK/AF517676
  • GENBANK/AF517677