Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1HH, UK.
Database (Oxford). 2013 Apr 15;2013:bat011. doi: 10.1093/database/bat011. Print 2013.
Major histocompatibility complex (MHC) genes play a critical role in vertebrate immune response and because the MHC is linked to a significant number of auto-immune and other diseases it is of great medical interest. Here we describe the clone-based sequencing and subsequent annotation of the MHC region of the gorilla genome. Because the MHC is subject to extensive variation, both structural and sequence-wise, it is not readily amenable to study in whole genome shotgun sequence such as the recently published gorilla genome. The variation of the MHC also makes it of evolutionary interest and therefore we analyse the sequence in the context of human and chimpanzee. In our comparisons with human and re-annotated chimpanzee MHC sequence we find that gorilla has a trimodular RCCX cluster, versus the reference human bimodular cluster, and additional copies of Class I (pseudo)genes between Gogo-K and Gogo-A (the orthologues of HLA-K and -A). We also find that Gogo-H (and Patr-H) is coding versus the HLA-H pseudogene and, conversely, there is a Gogo-DQB2 pseudogene versus the HLA-DQB2 coding gene. Our analysis, which is freely available through the VEGA genome browser, provides the research community with a comprehensive dataset for comparative and evolutionary research of the MHC.
主要组织相容性复合体 (MHC) 基因在脊椎动物免疫反应中起着关键作用，由于 MHC 与许多自身免疫和其他疾病相关联，因此它具有重要的医学意义。在这里，我们描述了大猩猩基因组 MHC 区域的基于克隆的测序和随后的注释。由于 MHC 存在广泛的结构和序列变异，因此它不易在全基因组鸟枪法测序（如最近公布的大猩猩基因组）中进行研究。MHC 的变异也使其具有进化意义，因此我们在人类和黑猩猩的背景下分析其序列。在与人类和重新注释的黑猩猩 MHC 序列的比较中，我们发现大猩猩具有三模块 RCCX 簇，而参考人类的二模块簇，并且在 Gogo-K 和 Gogo-A 之间有额外的 I 类（假）基因拷贝（对应于 HLA-K 和 -A）。我们还发现 Gogo-H（和 Patr-H）是编码的，而 HLA-H 假基因，相反，在 HLA-DQB2 编码基因对面有一个 Gogo-DQB2 假基因。我们的分析可通过 VEGA 基因组浏览器免费获得，为研究人员提供了一个全面的数据集，用于 MHC 的比较和进化研究。
