| First Author | Pisitkun P | Year | 2006 |
| Journal | Science | Volume | 312 |
| Issue | 5780 | Pages | 1669-72 |
| PubMed ID | 16709748 | Mgi Jnum | J:109758 |
| Mgi Id | MGI:3629581 | Doi | 10.1126/science.1124978 |
| Citation | Pisitkun P, et al. (2006) Autoreactive B cell responses to RNA-related antigens due to TLR7 gene duplication. Science 312(5780):1669-72 |
| abstractText | Antibodies against nuclear self-antigens are characteristic of systemic autoimmunity, although mechanisms promoting their generation and selection are unclear. Here, we report that B cells containing the Y-linked autoimmune accelerator (Yaa) locus are intrinsically biased toward nucleolar antigens because of increased expression of TLR7, a single-stranded RNA-binding innate immune receptor. The TLR7 gene is duplicated in Yaa mice because of a 4-Megabase expansion of the pseudoautosomal region. These results reveal high divergence in mouse Y chromosomes and represent a good example of gene copy number qualitatively altering a polygenic disease manifestation. |
