Evolution of the porcine (Sus scrofa domestica) immunoglobulin kappa locus through germline gene conversion.
Evolution of the porcine (Sus scrofa domestica) immunoglobulin kappa locus through germline gene conversion.
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DOI：
10.1007/s00251-011-0589-6
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发表时间：
2012-04
期刊：
影响因子：
3.2
通讯作者：
Murtaugh, Michael P.
中科院分区：
文献类型：
--
作者：
Schwartz, John C.;Lefranc, Marie-Paule;Murtaugh, Michael P.
免疫球蛋白（IG）基因重排和表达是动物抗病和维持健康的关键。猪（Sus scrofa arctica）中的IG kappa（IGK）基因座贡献了所有抗体分子的大约一半，与许多其他鲸蹄动物相反，其成员提供了大部分人类膳食蛋白，并且其中kappa基因座利用有限。猪IGK可变基因座位于5个IG基因（IGKJ）上游27.9kb处，IGKJ基因与IGKC基因相距2.8kb。14个可变基因（IGKV）被鉴定，其中9个是功能性的，2个是开放阅读框（ORF）。在三个假基因中，IGKV 3 -1含有移码和多个终止密码子，IGKV 7 -2含有多个终止密码子，IGKV 2 -5缺失外显子2。9个功能性IGKV基因与人IGKV 1或IGKV 2亚组在遗传学上相关。IGKV 2亚群基因被发现是显性表达的。在来自同一个体的重叠BAC上鉴定多态性，使得11个基因含有氨基酸差异。最显著的等位基因差异存在于IGKV 2基因中，其在等位基因之间包含多达16个氨基酸变化，其中大多数在互补决定区（CDR）1中。此外，许多IGKV 2 CDR 1在基因之间共享，但在等位基因之间不共享，表明该基因座通过基因转换而广泛多样化。
Immunoglobulin (IG) gene rearrangement and expression are central to disease resistance and health maintenance in animals. The IG kappa (IGK) locus in swine (Sus scrofa domestica) contributes to approximately half of all antibody molecules, in contrast to many other Cetartiodactyla, whose members provide the majority of human dietary protein and in which kappa locus utilization is limited. The porcine IGK variable locus is 27.9 kb upstream of five IG kappa J genes (IGKJ) which are separated from a single constant gene (IGKC) by 2.8 kb. Fourteen variable genes (IGKV) were identified, of which nine are functional and two are open reading frame (ORF). Of the three pseudogenes, IGKV3-1 contains a frameshift and multiple stop codons, IGKV7-2 contains multiple stop codons, and IGKV2-5 is missing exon 2. The nine functional IGKV genes are phylogenetically related to either the human IGKV1 or IGKV2 subgroups. IGKV2 subgroup genes were found to be dominantly expressed. Polymorphisms were identified on overlapping BACs derived from the same individual such that 11 genes contain amino acid differences. The most striking allelic differences are present in IGKV2 genes, which contain as many as 16 amino acid changes between alleles, the majority of which are in complementarity determining region (CDR) 1. In addition, many IGKV2 CDR1 are shared between genes but not between alleles, suggesting extensive diversification of this locus through gene conversion.
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