Salomonsen Jan, Chattaway John A, Chan Andrew C Y, Parker Aimée, Huguet Samuel, Marston Denise A, Rogers Sally L, Wu Zhiguang, Smith Adrian L, Staines Karen, Butter Colin, Riegert Patricia, Vainio Olli, Nielsen Line, Kaspers Bernd, Griffin Darren K, Yang Fengtang, Zoorob Rima, Guillemot Francois, Auffray Charles, Beck Stephan, Skjødt Karsten, Kaufman Jim
Basel Institute for Immunology, Basel, Switzerland; Department of Veterinary Disease Biology, University of Copenhagen, Copenhagen, Denmark; Department of International Health, Immunology and Microbiology, University of Copenhagen, Copenhagen, Denmark.
Department of Pathology, University of Cambridge, Cambridge, United Kingdom.
PLoS Genet. 2014 Jun 5;10(6):e1004417. doi: 10.1371/journal.pgen.1004417. eCollection 2014 Jun.
Many genes important in immunity are found as multigene families. The butyrophilin genes are members of the B7 family, playing diverse roles in co-regulation and perhaps in antigen presentation. In humans, a fixed number of butyrophilin genes are found in and around the major histocompatibility complex (MHC), and show striking association with particular autoimmune diseases. In chickens, BG genes encode homologues with somewhat different domain organisation. Only a few BG genes have been characterised, one involved in actin-myosin interaction in the intestinal brush border, and another implicated in resistance to viral diseases. We characterise all BG genes in B12 chickens, finding a multigene family organised as tandem repeats in the BG region outside the MHC, a single gene in the MHC (the BF-BL region), and another single gene on a different chromosome. There is a precise cell and tissue expression for each gene, but overall there are two kinds, those expressed by haemopoietic cells and those expressed in tissues (presumably non-haemopoietic cells), correlating with two different kinds of promoters and 5' untranslated regions (5'UTR). However, the multigene family in the BG region contains many hybrid genes, suggesting recombination and/or deletion as major evolutionary forces. We identify BG genes in the chicken whole genome shotgun sequence, as well as by comparison to other haplotypes by fibre fluorescence in situ hybridisation, confirming dynamic expansion and contraction within the BG region. Thus, the BG genes in chickens are undergoing much more rapid evolution compared to their homologues in mammals, for reasons yet to be understood.
许多在免疫中起重要作用的基因是以多基因家族的形式存在的。嗜乳脂蛋白基因是B7家族的成员,在共调节以及可能在抗原呈递中发挥多种作用。在人类中,在主要组织相容性复合体(MHC)及其周围发现了固定数量的嗜乳脂蛋白基因,并且与特定的自身免疫性疾病有显著关联。在鸡中,BG基因编码具有稍有不同结构域组织的同源物。只有少数BG基因得到了表征,一个参与肠道刷状缘肌动蛋白 - 肌球蛋白相互作用,另一个与抗病毒疾病有关。我们对B12鸡中的所有BG基因进行了表征,发现一个多基因家族在MHC外的BG区域以串联重复的形式组织,在MHC(BF - BL区域)中有一个单基因,在另一条染色体上还有另一个单基因。每个基因都有精确的细胞和组织表达,但总体上有两种,一种由造血细胞表达,另一种在组织(可能是非造血细胞)中表达,这与两种不同类型的启动子和5'非翻译区(5'UTR)相关。然而,BG区域中的多基因家族包含许多杂交基因,这表明重组和/或缺失是主要的进化力量。我们通过鸡全基因组鸟枪法测序以及通过纤维荧光原位杂交与其他单倍型进行比较来鉴定BG基因,证实了BG区域内的动态扩增和收缩。因此,与哺乳动物中的同源物相比,鸡中的BG基因正在经历更快的进化,原因尚待了解。