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

MacMurray, Armand J.; Moralejo, Daniel H.; Kwitek, Anne E.; Rutledge, Elizabeth A.; Van Yserloo, Brian; Gohlke, Paul; Speros, Sara J.; Snyder, Ben; Schaefer, Jonathan and Bieg, Sabine, et al. (2002) In Genome Research 12(7). p.1029-1039
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... (More)
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 dev (Less)
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publication status
published
subject
in
Genome Research
volume
12
issue
7
pages
1029 - 1039
publisher
Cold Spring Harbor Laboratory Press
external identifiers
  • scopus:0036062788
ISSN
1549-5469
language
English
LU publication?
no
id
f5a374c6-5c39-4121-aaef-a5da40087e58 (old id 1124799)
alternative location
http://www.genome.org/cgi/content/abstract/12/7/1029
date added to LUP
2008-05-27 12:25:47
date last changed
2017-11-12 03:25:38
@article{f5a374c6-5c39-4121-aaef-a5da40087e58,
  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 dev},
  author       = {MacMurray, Armand J. and Moralejo, Daniel H. and Kwitek, Anne E. and Rutledge, Elizabeth A. and Van Yserloo, Brian and Gohlke, Paul and Speros, Sara J. and Snyder, Ben and Schaefer, Jonathan and Bieg, Sabine and Jiang, Jianjie and Ettinger, Ruth A. and Fuller, Jessica and Daniels, Terri L. and Pettersson, Anna and Orlebeke, Kimberly and Birren, Bruce and Jacob, Howard J. and Lander, Eric S. and Lernmark, Åke},
  issn         = {1549-5469},
  language     = {eng},
  number       = {7},
  pages        = {1029--1039},
  publisher    = {Cold Spring Harbor Laboratory Press},
  series       = {Genome Research},
  title        = {Lymphopenia in the BB rat model of type 1 diabetes is due to a mutation in a novel immune-associated nucleotide (Ian)-related gene.},
  volume       = {12},
  year         = {2002},
}