ArticleMammalian genome : official journal of the International Mammalian Genome Society2007
A deletion mutation of the protein tyrosine phosphatase kappa (Ptprk) gene is responsible for T-helper immunodeficiency (thid) in the LEC rat.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Regulation of TCR signalling by tyrosine phosphatases: from immune homeostasis to autoimmunity.Immunology · 2012Pooled it
- Protein tyrosine phosphatase receptor type kappa (PTPRK) revisited: evolving insights into structure, function, and pathology.Journal of translational medicine · 2025Review
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- Positional cloning of rat mutant genes reveals new functions of these genes.Experimental animals · 2023Review
- Rat models of human diseases and related phenotypes: a systematic inventory of the causative genes.Journal of biomedical science · 2020Review
- Animal models of Wilson disease.Journal of neurochemistry · 2018Review
- The chromosome 6q22.33 region is associated with age at diagnosis of type 1 diabetes and disease risk in those diagnosed under 5 years of age.Diabetologia · 2018Article
- Hepatotoxicity of high affinity gapmer antisense oligonucleotides is mediated by RNase H1 dependent promiscuous reduction of very long pre-mRNA transcripts.Nucleic acids research · 2016Article
- TGFβ responsive tyrosine phosphatase promotes rheumatoid synovial fibroblast invasiveness.Annals of the rheumatic diseases · 2016Article
- Therapeutic approaches for celiac disease.Best practice & research. Clinical gastroenterology · 2015Review
- Regulation of development and cancer by the R2B subfamily of RPTPs and the implications of proteolysis.Seminars in cell & developmental biology · 2015Review
- From genome-wide association studies to disease mechanisms: celiac disease as a model for autoimmune diseases.Seminars in immunopathology · 2012Review
- A spontaneous mutation of the rat Themis gene leads to impaired function of regulatory T cells linked to inflammatory bowel disease.PLoS genetics · 2012Article
- Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.Nature genetics · 2011Article
- Identifying genetic loci and spleen gene coexpression networks underlying immunophenotypes in BXD recombinant inbred mice.Physiological genomics · 2010Article
- Gasp, a Grb2-associating protein, is critical for positive selection of thymocytes.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
- A novel gene essential for the development of single positive thymocytes.Molecular and cellular biology · 2009Article
- Themis is a member of a new metazoan gene family and is required for the completion of thymocyte positive selection.Nature immunology · 2009Article
- Evidence of inflammatory immune signaling in chronic fatigue syndrome: A pilot study of gene expression in peripheral blood.Behavioral and brain functions : BBF · 2008Article
- Novel targets for drug discovery in celiac disease.Indian journal of pharmacologyReview
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5 authors.
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Abstract
Bone marrow (BM)-derived T-cell progenitors differentiate into CD4 or CD8 single-positive (SP) cells in the thymus. We have previously reported that a single autosomal mutation, thid, causes a defect in the maturation of CD4 SP thymocytes and an abnormality of peripheral helper T cells in the LEC rat. In this study we attempted to identify a gene responsible for the thid mutation. We first performed genetic linkage analysis and mapped the thid locus between Myb and D1Rat392 on Chr 1. In this region we found an approximately 380-kb deletion from intron 3 of the Ptprk gene, which encodes a receptor-like protein tyrosine phosphatase type kappa (RPTPkappa) to intron 1 of the RGD1560849 predicted gene in the LEC rat genome. Reconstitution with syngenic BM cells transduced Ptprk but not the RGD1560849 predicted gene rescued development of CD4 SP cells in the LEC rat thymus. It is confirmed by this result that the Ptprk gene is responsible for the thid mutation in the LEC rat. Our results further suggest that RPTPkappa plays a critical role in the development of CD4 SP cells in the thymus.
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