Alternative titles; symbols
DO: 0110752;
Cytogenetic location: 2q34 Genomic coordinates (GRCh38): 2:208,200,001-214,500,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 2q34 | {Diabetes mellitus, insulin-dependent, 13} | 601318 | 2 |
Morahan et al. (1996) mapped an insulin-dependent diabetes mellitus gene, designated IDDM13, to chromosome 2q34 on the basis of analysis of 98 affected sib pairs. The maximum lod score with D2S164 was 3.345. Using the MAP-MAKER/Sibs program, which allows multipoint linkage analysis to be performed on data collected from affected sib pairs, a peak maximum lod score was obtained in the region of the markers D2S137-D2S164. Morahan et al. (1996) noted that a predictor of IDDM is the presence of circulating islet antibodies (ICA) in first-degree relatives of affected probands; however, since not all ICA+ individuals progress to clinical disease, genes that control this phenotype (i.e., development of ICA) may act early in the process leading to diabetes mellitus. Morahan et al. (1996) performed additional multipoint linkage analyses including those sibs that had either ICA or IDDM. Results of these analyses showed that evidence for linkage increases at map positions near IDDM13, suggesting that IDDM13 controls an early event in islet cell autoimmunity. Morahan et al. (1996) postulated that identification of this gene may facilitate identification of a subset of at-risk individuals.
Fox et al. (2000) found that the murine ortholog of the human IDDM13 gene (Idd13) was involved in the nonobese diabetic (NOD) mouse model along with Idd5 (600320) in the regulation of a T lymphocyte-dependent progression from a benign to a destructive stage of insulitis. This was the first demonstration of a role for individual non-MHC loci, IDD5 and IDD13, in a specific, critical step in diabetes pathogenesis, namely, T-cell recruitment to islet lesions driving destructive inflammation. The study also illustrated the importance of identifying intermediate phenotypes in complex disease pathogenesis as an approach to gene identification.
Fox, C. J., Paterson, A. D., Mortin-Toth, S. M., Danska, J. S. Two genetic loci regulate T cell-dependent islet inflammation and drive autoimmune diabetes pathogenesis. Am. J. Hum. Genet. 67: 67-81, 2000. [PubMed: 10848492] [Full Text: https://doi.org/10.1086/302995]
Morahan, G., Huang, D., Tait, B. D., Colman, P. G., Harrison, L. C. Markers on distal chromosome 2q linked to insulin-dependent diabetes mellitus. Science 272: 1811-1813, 1996. [PubMed: 8650584] [Full Text: https://doi.org/10.1126/science.272.5269.1811]