Mouro I, Le Van Kim C, Cherif-Zahar B, Salvignol I, Blancher A, Cartron J P, Colin Y
Institut National de la Santé et de la Recherche Médicale, Unité 76 Institut National de Transfusion Sanguine, Paris, France.
J Mol Evol. 1994 Feb;38(2):169-76. doi: 10.1007/BF00166163.
The human Rh blood group locus consists of two structurally related genes (D and CcEe) in Rh-positive haplotypes but a single gene (CcEe) in Rh-negative haplotypes. The genome of rhesus monkeys (Macaca mulatta), while not expressing any of the human Rh D, C, c, E, or e specificities, carries a Rh-like locus strongly related to the human Rh locus. Southern blot analysis suggested the presence of only one Rh-like gene with an additional truncated fragment corresponding to the 5' region. RNA preparations from M. mulatta bone marrow cells contained Rh-like species of 1.7 kb. Two allelic Rh-like transcripts were amplified by PCR and sequenced. The predicted translation product of the first transcript was a 417-amino-acid protein closely similar to the human Rh counterpart. The predicted product of the second transcript consisted of a 361-amino-acid polypeptide truncated in the NH2 terminal region and differing from the former by a few substitutions. The macaque Rh-like protein sequences differed from those of human D and Cc/Ee polypeptides by 22-25%, whereas the degree of identity between the human proteins was 91.5%. Implications of these results in the analysis of the evolutionary pathway of the Rh locus are discussed.
人类Rh血型基因座在Rh阳性单倍型中由两个结构相关的基因（D和CcEe）组成，但在Rh阴性单倍型中只有一个基因（CcEe）。恒河猴（猕猴）的基因组虽然不表达任何人类Rh D、C、c、E或e特异性，但携带一个与人类Rh基因座密切相关的类Rh基因座。Southern印迹分析表明只存在一个类Rh基因，还有一个对应于5'区域的额外截短片段。来自恒河猴骨髓细胞的RNA制剂含有1.7 kb的类Rh物种。通过PCR扩增并测序了两个等位类Rh转录本。第一个转录本的预测翻译产物是一种417个氨基酸的蛋白质，与人类Rh对应物非常相似。第二个转录本的预测产物由一个在NH2末端区域截短的361个氨基酸的多肽组成，与前者有一些取代差异。猕猴类Rh蛋白序列与人类D和Cc/Ee多肽的序列差异为22%-25%，而人类蛋白质之间的同一性程度为91.5%。讨论了这些结果在Rh基因座进化途径分析中的意义。
