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A cluster of ten novel MHC class I related genes on human chromosome 6q24.2-q25.3.

机译:人类染色体6q24.2-q25.3上的十个新的MHC I类相关基因的簇。

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摘要

We have identified a novel family of human major histocompatibility complex (MHC) class I genes. This MHC class I related gene family is defined by 10 members, among which 6 encode potentially functional glycoproteins. The 180-kb cluster containing them has been generated by serial duplication and minimal diversification of an ancestral prototype. They are not located within the MHC on 6p21.3, but near the tip of its long arm at q24.2-q25.3, close to the human equivalent of the mouse H2-linked t-complex, a subchromosomal region syntenic to a segment of mouse chromosome 10 harboring the orthologous MHC class I related retinoic acid early transcript loci, Raet1a-d. Hence we have named the identified loci RAET1E-N. Human RAET1 products are all devoid of the membrane-proximal immunoglobulin-like alpha3 domain and most, but not all, are predicted to remain membrane-anchored via glycosylphosphatidylinositol linkage and are shown to display an atypical pattern of polymorphism. RAET1 transcripts are absent from hematopoietic tissues, but largely expressed in tumors. The involvement of orthologous mouse RAET1A-D/H60 in natural killer and T-cell activation through NKG2D engagement augurs a similar function for the human RAET1 proteins.
机译:我们已经确定了人类主要组织相容性复合体(MHC)I类基因的新型家族。这个与MHC I类相关的基因家族由10个成员定义,其中6个编码潜在的功能性糖蛋白。包含它们的180 kb簇是通过祖先原型的串行复制和最小多样化而生成的。它们不在6p21.3上的MHC内,而是在q24.2-q25.3的长臂末端附近,接近与小鼠H2连接的t-复合物的人类等效物,该子复合物与a H相连的亚染色体区域含有直系同源MHC I类相关视黄酸早期转录基因座的Raet1a-d小鼠染色体10的一部分。因此,我们将命名的基因座命名为RAET1E-N。人类的RAET1产品都没有膜近端免疫球蛋白样α3结构域,并且大多数(但不是全部)被预测通过糖基磷脂酰肌醇连接保留在膜锚定状态,并显示出非典型的多态性模式。造血组织中不存在RAET1转录本,但在肿瘤中大量表达。直系同源小鼠RAET1A-D / H60通过NKG2D参与自然杀手和T细胞活化,预示着人类RAET1蛋白具有相似的功能。

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