Sequence variation in promoter of Ica1 gene, which encodes protein implicated in type 1 diabetes, causes transcription factor autoimmune regulator (AIRE) to increase its binding and down-regulate expression.

doi:10.1074/jbc.M111.319020

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Article

Sequence variation in promoter of Ica1 gene, which encodes protein implicated in type 1 diabetes, causes transcription factor autoimmune regulator (AIRE) to increase its binding and down-regulate expression.

The Journal of biological chemistry - 18 May 2012

Bonner Samantha M, Pietropaolo Susan L, Fan Yong, Chang Yigang, Sethupathy Praveen, Morran Michael P, Beems Megan, Giannoukakis Nick, Trucco Giuliana, Palumbo Michael O, Solimena Michele, Pugliese Alberto, Polychronakos Constantin, Trucco Massimo, Pietropaolo Massimo

Abstract excerpt

ICA69 (islet cell autoantigen 69 kDa) is a protein implicated in type 1 diabetes mellitus in both the non-obese diabetic (NOD) mouse model and humans. ICA69 is encoded by the Ica1 gene on mouse chromosome 6 A1-A2. We previously reported reduced ICA69 expression in the thymus of NOD mice compared with thymus of several non-diabetic mouse strains. We propose that reduced thymic ICA69 expression could result from...

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PMID: 22447927
DOI: 10.1074/jbc.M111.319020
PMCID: PMC3366781

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AIRE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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