التفاصيل البيبلوغرافية
| العنوان: |
Mosaicism of XX and XXY cells accounts for high copy number of Toll like Receptor 7 and8 genes in peripheral blood of men with Rheumatoid Arthritis. |
| المؤلفون: |
Martin, Gabriel V., Kanaan, Sami B., Hemon, Marie F., Azzouz, Doua F., El Haddad, Marina, Balandraud, Nathalie, Mignon-Ravix, Cécile, Picard, Christophe, Arnoux, Fanny, Martin, Marielle, Roudier, Jean, Auger, Isabelle, Lambert, Nathalie C. |
| المصدر: |
Scientific Reports; 9/9/2019, Vol. 9 Issue 1, pN.PAG-N.PAG, 1p |
| مصطلحات موضوعية: |
MOSAICISM, RHEUMATOID arthritis, AUTOIMMUNITY, X-linked genetic disorders, IN situ hybridization |
| مستخلص: |
The X chromosome, hemizygous in males, contains numerous genes important to immunological and hormonal function. Alterations in X-linked gene dosage are suspected to contribute to female predominance in autoimmunity. A powerful example of X-linked dosage involvement comes from the BXSB murine lupus model, where the duplication of the X-linked Toll-Like Receptor 7 (Tlr7) gene aggravates autoimmunity in male mice. Such alterations are possible in men with autoimmune diseases. Here we showed that a quarter to a third of men with rheumatoid arthritis (RA) had significantly increased copy numbers (CN) of TLR7 gene and its paralog TLR8. Patients with high CN had an upregulated pro-inflammatory JNK/p38 signaling pathway. By fluorescence in situ hybridization, we further demonstrated that the increase in X-linked genes CN was due to the presence of an extra X chromosome in some cells. Men with RA had a significant cellular mosaicism of female (46,XX) and/or Klinefelter (47,XXY) cells among male (46,XY) cells, reaching up to 1.4% in peripheral blood. Our results present a new potential trigger for RA in men and opens a new field of investigation particularly relevant for gender-biased autoimmune diseases. [ABSTRACT FROM AUTHOR] |
|
Copyright of Scientific Reports is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Complementary Index |
Full Text Finder