Nenhuma distinção de ortologia/paralogia entre genes do grupo sanguíneo Rh de humanos e de chimpanzés

terça-feira, fevereiro 23, 2016

No distinction of orthology/paralogy between human and chimpanzee Rh blood group genes

Takashi Kitano1,*, Choong-Gon Kim1,#, Antoine Blancher2 and Naruya Saitou1

- Author Affiliations

1Division of Population Genetics, National Institute of Genetics, Mishima, Japan

2Laboratoire d’Immunogénétique Moléculaire (LIMT, EA3034), Faculté de Médecine Purpan, Université Paul Sabatier, Toulouse III, France

Author for Correspondence: Takashi Kitano, Department of Biomolecular Functional Engineering, College of Engineering, Ibaraki University, 4-12-1 Nakanarusawa-cho, Hitachi 316-8511, Japan, Tel: +81-294-38-5050, Fax: +81-294-38-5078, E-mail:

Received April 20, 2015. Revision received November 13, 2015. Revision received January 16, 2016. Accepted February 8, 2016.


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 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.

Key words: gene duplication phylogeny rearrangement

© The Author(s) 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

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