مورد إلكتروني
Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE).
| العنوان: | Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE). |
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| المؤلفون: | Abbott, Jordan K |
| بيانات النشر: | eScholarship, University of California 2018-03-01 |
| تفاصيل مُضافة: | Abbott, Jordan K Huoh, Yu-San Reynolds, Paul R Yu, Liping Rewers, Marian Reddy, Monica Anderson, Mark S Hur, Sun Gelfand, Erwin W |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | A genetic variant in the SAND domain of autoimmune regulator (AIRE), R247C, was identified in a patient with type I diabetes mellitus (T1DM) and his mother with rheumatoid arthritis. In vitro, the variant dominantly inhibited AIRE; however, typical features of Autoimmune Polyendocrinopathy Candidiasis and Ectodermal Dysplasia (APECED) were not seen in the subjects. Rather, early manifestation of autoimmunity appeared to be dependent on additional genetic factors. On a population level, diverse variants were identified in this region. Surprisingly, many likely pathogenic variants were seen disproportionately in Africans when compared to Europeans, reinforcing the importance of these variants in altering the immune repertoire. In light of these findings, we propose that R247C and other variants within the SAND-domain alter protein function in a dominant fashion and hold potential as drivers of autoimmunity. |
| مصطلحات الفهرس: | Humans, Diabetes Mellitus, Type 1, Polyendocrinopathies, Autoimmune, Transcription Factors, Pedigree, Autoimmunity, Polymorphism, Genetic, Adolescent, Child, Preschool, Male, HEK293 Cells, Protein Domains, Loss of Function Mutation, White People, Black People, Autoimmune regulator, Dominant-negative mutation, Immune tolerance, Next generation sequencing, Type I diabetes mellitus, Autoimmune Disease, Clinical Research, Arthritis, Genetics, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Blacks, Whites, Immunology, publication |
| URL: | |
| الإتاحة: | Open access content. Open access content public |
| ملاحظة: | application/pdf |
| أرقام أخرى: | CDLER oai:escholarship.org:ark:/13030/qt6tp2w0v4 qt6tp2w0v4 https://escholarship.org/uc/item/6tp2w0v4Test https://escholarship.orgTest/ 1391602340 |
| المصدر المساهم: | UC MASS DIGITIZATION From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.on1391602340 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |