期刊
BIOCHEMICAL SOCIETY TRANSACTIONS
卷 36, 期 -, 页码 312-315出版社
PORTLAND PRESS LTD
DOI: 10.1042/BST0360312
关键词
autoimmunity; interleukin 2 (IL-2); non-obese diabetic mouse (NOD mouse); tolerance; Type 1 diabetes
资金
- NIAID NIH HHS [P01 AI039671] Funding Source: Medline
- Wellcome Trust [061859] Funding Source: Medline
Variants within the IL-2 (interleukin 2) and CD25 genes are associated with T1DM (Type 1 diabetes mellitus) in mice and humans respectively. Both gene products are essential for optimal immune tolerance and a partial failure to tolerize is linked to the autoimmune responses to insulin and other beta-cell proteins that precede T1DM onset. Gene variants that contribute to common disease susceptibility often alter gene expression only modestly. Small expression changes can be technically challenging to measure robustly, especially since biological variation usually contributes negatively to this goal. The present review focuses on allele-specific expression assays that can be used to quantify genotype-determined expression differences such as those observed for IL-2, where the susceptibility allele is transcribed 2-fold less than the resistance allele.
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