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

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Bibtex

@article{f5a374c65c394121aaefa5da40087e58,
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.",
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 Paul Gohlke and Speros, {Sara J.} and Ben Snyder and Jonathan Schaefer and Sabine Bieg and Jianjie Jiang and Ettinger, {Ruth A.} and Jessica Fuller and Daniels, {Terri L.} and Anna Pettersson and Kimberly Orlebeke and Bruce Birren and Jacob, {Howard J.} and Lander, {Eric S.} and {\AA}ke Lernmark",
year = "2002",
language = "English",
volume = "12",
pages = "1029--1039",
journal = "Genome Research",
issn = "1549-5469",
publisher = "Cold Spring Harbor Laboratory Press (CSHL)",
number = "7",

}