No Distinction of Orthology/Paralogy between Human and Chimpanzee Rh Blood Group Genes.
No Distinction of Orthology/Paralogy between Human and Chimpanzee Rh Blood Group Genes.
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DOI：
10.1093/gbe/evw022
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发表时间：
2016-02-12
影响因子：
3.3
通讯作者：
Saitou N
中科院分区：
文献类型：
--
作者：
Kitano T;Kim CG;Blancher A;Saitou N
在人类（智人）1号染色体上，有一个串联重复包含Rh血型基因（Hosa_RHD和Hosa_RHCE）。这种重复发生在人类的共同祖先，黑猩猩（泛穴居人）和大猩猩身上，在他们与猩猩的共同祖先分离之后。虽然已经对类人猿Rh血型基因进行了几项研究，但基因簇的明确基因组结构仍然未知。在这里，我们通过对来自黑猩猩的5个BAC（细菌人工染色体）克隆进行测序，确定了黑猩猩Rh基因基因簇的基因组结构。我们鉴定了三个完整的基因座（Patr_RHα、Patr_RHβ和Patr_RHγ）。在Patr_RHβ位点上，观察到该基因的短版本，缺少包含外显子4-8的中间部分。Patr_RHα和Patr_RHβ基因分别位于Hosa_RHD和Hosa_RHCE对应的位置，Patr_RHγ位于Patr_RHβ的紧邻位置。序列比较发现，黑猩猩Rh基因中与Hosa_RHCE序列相似性较高，而与Hosa_RHD最接近的基因不是Patr_RHα，而是Patr_RHγ。结果表明，这些基因之间经常发生重排和基因转换，并且人类和黑猩猩Rh血型基因之间的经典同源/同源二分法不再成立。
On human (Homo sapiens) chromosome 1, there is a tandem duplication encompassing Rh blood group genes (Hosa_RHD and Hosa_RHCE). This duplication occurred in the common ancestor of humans, chimpanzees (Pan troglodytes), and gorillas, after splitting from their common ancestor with orangutans. Although several studies have been conducted on ape Rh blood group genes, the clear genome structures of the gene clusters remain unknown. Here, we determined the genome structure of the gene cluster of chimpanzee Rh genes by sequencing five BAC (Bacterial Artificial Chromosome) clones derived from chimpanzees. We characterized three complete loci (Patr_RHα, Patr_RHβ, and Patr_RHγ). In the Patr_RHβ locus, a short version of the gene, which lacked the middle part containing exons 4–8, was observed. The Patr_RHα and Patr_RHβ genes were located on the locations corresponding to Hosa_RHD and Hosa_RHCE, respectively, and Patr_RHγ was in the immediate vicinity of Patr_RHβ. Sequence comparisons revealed high sequence similarity between Patr_RHβ and Hosa_RHCE, while the chimpanzee Rh gene closest to Hosa_RHD was not Patr_RHα but rather Patr_RHγ. The results suggest that rearrangements and gene conversions frequently occurred between these genes and that the classic orthology/paralogy dichotomy no longer holds between human and chimpanzee Rh blood group genes.
影响因子：
3.3
作者：
Ferreira Z;Hurle B;Andrés AM;Kretzschmar WW;Mullikin JC;Cherukuri PF;Cruz P;Gonder MK;Stone AC;Tishkoff S;Swanson WJ;NISC Comparative Sequencing Program;Green ED;Clark AG;Seixas S
通讯作者：
Seixas S