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Genetic Dissection Reveals Diabetes Loci Proximal to the Gimap5 Lymphopenia Gene
Journal article   Open access   Peer reviewed

Genetic Dissection Reveals Diabetes Loci Proximal to the Gimap5 Lymphopenia Gene

Jessica Fuller, Marika Bogdani, Terry D Tupling, Richard A Jensen, Ranae Pefley, Sahar Manavi, Laura Cort, Elizabeth P Blankenhorn, John P Mordes, Åke Lernmark, …
Physiological genomics, v 38(1), pp 89-97
2009
PMID: 19351909
url
https://doi.org/10.1152/physiolgenomics.00015.2009View
Published, Version of Record (VoR) Open

Abstract

Clinical Medicine Endokrinologi och diabetes Medical and Health Sciences Klinisk medicin Medicin och hälsovetenskap Endocrinology and Diabetes
Congenic DRF.(f/f) rats are protected from type 1 diabetes (T1D) by 34 Mb of F344 DNA introgressed proximal to the Gimap5 lymphopenia gene. To dissect the genetic factor(s) that confer protection from T1D in the DRF.(f/f) rat line, DRF.(f/f) rats were crossed to inbred BBDR or DR.(lyp/lyp) rats to generate congenic sublines that were genotyped, monitored for T1D and positional candidate genes sequenced. All (100%) DR.(lyp/lyp) rats developed T1D by 83 days of age. Reduction of the DRF.(f/f) F344 DNA fragment by 26 Mb (42.52 Mb-68.51 Mb) retained complete T1D protection. Further dissection revealed that a 2 Mb interval of F344 DNA (67.41-70.17 Mb) (Region 1) resulted in 47% protection and significantly delayed onset (p<0.001 compared to DR.(lyp/lyp)). Retaining <1 Mb of F344 DNA at the distal end (76.49-76.83 Mb) (Region 2) resulted in 28% protection and also delayed onset (p<0.001 compared to DR.(lyp/lyp)). Comparative analysis of diabetes frequency in the DRF.(f/f) congenic sublines further refined the RNO4 Region 1 interval to approximately 670 Kb and Region 2 to the 340 Kb proximal to Gimap5. All congenic DRF.(f/f) sublines were prone to low-grade pancreatic mononuclear cell infiltration around ducts and vessels but less than 20% of islets in non-diabetic rats showed islet infiltration. Coding sequence analysis revealed TCR Vbeta 8E, 12 and 13 as candidate genes in Region 1 and Znf467 and Atp6v0e2 as candidate genes in Region 2. Our results show that spontaneous T1D is controlled by at least two genetic loci 7 Mb apart on rat chromosome 4. Key words: Type 1 diabetes, BB rat, T cell receptor, autoimmune.

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Collaboration types
Domestic collaboration
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Web of Science research areas
Cell Biology
Genetics & Heredity
Physiology
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