The Rhesus System

Blancher, Antoine; Socha, W. W.

doi:10.1007/978-3-642-59086-3_6

Cited by 20 publications

(10 citation statements)

References 168 publications

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“…Thus far, the results of haplotype analysis Blancher and Apoil, 2000) and serological typing (Blancher and Socha, 1997) in chimpanzees have been interpreted based on the above-mentioned assumption. On the contrary, the chimpanzees studied here were found to carry either two or four Rh genes, instead of three Rh genes.…”

Section: Discussionmentioning

confidence: 99%

“…Serological studies using human antisera against Rh blood types showed that c antigens can be detected on erythrocytes in all Hominoids as well as Old and New World monkeys, whereas anti-D antibodies react only with chimpanzee and gorilla erythrocytes (Blancher and Socha, 1997). However, the nonhuman primate homologs of human RH genes, which are sometimes generically designated "Rhlike genes" or "Rh-related genes", but simply designated "Rh genes" in the present article, have not yet been precisely analyzed.…”

confidence: 99%

“…By Southern blot analyses, it was proposed that chimpanzees and gorillas carry three and two Rh genes per haploid genome, respectively, whereas other nonhuman primates (orangutans, gibbons and other Old and New World monkeys) may carry a single Rh gene (Salvignol et al, 1993;Westhoff and Wylie, 1994;Blancher and Socha, 1997). All these findings suggested that the duplication of the Rh genes occurred after the divergence of the human-African ape clade from orangutans 8-11 million years ago.…”

confidence: 99%

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Gene arrangement at the Rhesus blood group locus of chimpanzees detected by fiber-FISH

Suto

Ishikawa

Hyodo

et al. 2003

Cytogenet Genome Res

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The Rhesus (Rh) blood group system in humans is encoded by two genes with high sequence homology. These two genes, namely, RHCE and RHD, have been implied to be duplicated during evolution. However, the genomic organization of Rh genes in chimpanzees and other nonhuman primates has not been precisely studied. We analyzed the arrangement of the Rh genes of chimpanzees (Pan troglodytes) by two-color fluorescence in situ hybridization on chromatin DNA fibers (fiber-FISH) using two genomic DNA probes that respectively contain introns 3 and 7 of human RH genes. Among the five chimpanzees studied, three were found to be homozygous for the two-Rh-gene type, in an arrangement of Rh (5′→3′) – Rh (3′←5′). Although a similar gene arrangement can be detected in the RH gene locus of typical Rh-positive humans, the distance between the two genes in chimpanzees was about 50 kb longer than that in humans. The remaining two chimpanzees were homozygous for a four-Rh-gene type, in an arrangement of Rh (5′→3′) – Rh (3′←5′) – Rh (3′←5′) – Rh (3′←5′) within a region spanning about 300 kb. This four-Rh-gene type has not been detected in humans. Further analysis of other great apes showed different gene arrangements: a bonobo was homozygous for the three-Rh-gene type; a gorilla was heterozygous for the one-Rh- and two-Rh-gene types; an orangutan was homozygous for the one-Rh-gene type. Our findings on the intra- and interspecific genomic variations in the Rh gene locus in Hominoids would shed further light on reconstructing the genomic pathways of Rh gene duplication during evolution.

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Section: Discussionmentioning

confidence: 99%

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Gene arrangement at the Rhesus blood group locus of chimpanzees detected by fiber-FISH

Suto

Ishikawa

Hyodo

et al. 2003

Cytogenet Genome Res

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“…The closest RHAG and RHCED relatives are those from nonhuman primates, as they share not only high sequence identity but also some antigen reactivity (10,11). We previously showed that the mouse erythroid Rhag and Rhced are identical to their human counterparts in the arrangement of exon/intron junctions, in the conservation of chromosome synteny, and in the pattern of coexpression (12).…”

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confidence: 99%

Characterization of Human RhCG and Mouse Rhcg as Novel Nonerythroid Rh Glycoprotein Homologues Predominantly Expressed in Kidney and Testis

Chen

et al. 2000

Journal of Biological Chemistry

136

141

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In mammals, the Rh family includes the variable Rh polypeptides and invariant RhAG glycoprotein. These polytopic proteins are confined to the erythroid lineage and are assembled into a multisubunit complex essential for Rh antigen expression and plasma membrane integrity. Here, we report the characterization of RhCG and Rhcg, a pair of novel Rh homologues present in human and mouse nonerythroid tissues. Despite sharing a notable similarity to the erythroid forms, including the 12-transmembrane topological fold, the RHCG/ Rhcg pair is distinct in chromosome location, genomic organization, promoter structure, and tissue-specific expression. RHCG and Rhcg map at 15q25 of human chromosome 15 and the long arm of mouse chromosome 7, respectively, each having 11 exons and a CpG-rich promoter. Northern blots detected kidney and testis as the major organs of RHCG or Rhcg expression. In situ hybridization revealed strong expression of Rhcg in the kidney collecting tubules and testis seminiferous tubules. Confocal imaging of transiently expressed green fluorescence protein fusion proteins localized RhCG exclusively to the plasma membrane, a distribution confirmed by cellular fractionation and Western blot analysis. In vitro translation and ex vivo expression showed that RhCG carries a complex N-glycan, probably at the 48 NLS 50 sequon of exoloop 1. These results pinpoint RhCG and Rhcg as novel polytopic membrane glycoproteins that may function as epithelial transporters maintaining normal homeostatic conditions in kidney and testis.The Rh antigens, originally identified in human red blood cells (RBCs), 1 are potent immunogens and, when incompatible, cause hemolytic disease of the newborn and blood transfusion reaction (1). They are defined by two erythroid-specific transmembrane (TM) proteins, the Rh polypeptides and the Rhassociated glycoprotein (RhAG), which form a multisubunit complex and display exodomains as D or CcEe antigens (2). The Rh polypeptides are highly polymorphic and are distinguished from RhAG by two biochemical features, i.e. palmitoylation but no glycosylation. In contrast, RhAG is largely invariant at the population level and is thought to modulate the assembly of the Rh complex and its surface expression. Human Rh polypeptides and RhAG are encoded by RHCED and RHAG loci that reside on chromosomes 1 and 6, respectively (3, 4). Despite this difference, these RH genes have originated from a common ancestor during evolution in that they are homologous in coding sequence and are grossly similar in exon/intron organization (5, 6). Although their exact functions remain to be identified, Rh proteins (and their complex) are necessary for the maintenance of RBC morphology and plasma membrane integrity. The Rh deficiency syndrome, a rare inherited form of hemolytic anemia, is caused by mutations at the RHAG or RHCED locus (2). In this disorder, RBCs deficient in all Rh antigens exhibit spherostomatocytosis and multiple membrane abnormalities (7), implying that Rh proteins have some functional roles in membrane ph...

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“…First, to eliminate noise from phylogenetic analyses, we constructed a simpler phylogenetic tree and used only human and torafugu genes as representatives of vertebrates (Table 1). Because of tandem gene duplication, there are two Rh loci (RhD and RhCE) in humans (Blancher and Socha, 1997). In torafugu, there are two RhCG loci, probably because of a gene duplication event in the fish lineage.…”

Section: Phylogenetic Relationships Of Amphioxus Rhr Genesmentioning

confidence: 99%

Evolution of two Rh blood group-related genes of the amphioxus species Branchiostoma floridae

2010

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We determined cDNAs of two genes that belong to the Rhesus (Rh) blood group gene family in an amphioxus species (Branchiostoma floridae) and designated them Rh-related-1 (RhR-1) and Rh-related-2 (RhR-2). RhR-1 and RhR-2 consisted of 10 and 11 exons, respectively. 3' UTR sequences of RhR-1 were shorter (220-272 bp) than those of RhR-2 (1,505-1,650 bp). CDS lengths were 1,344 and 1,476 bp for RhR-1 and RhR-2, respectively, and the average nucleotide difference between their CDS regions was 0.33. The corresponding regions of Rh genes from exons 2 to 7 were relatively conserved among the chordate species examined in this study. Length difference numbers were in multiples of three, which implies that codon frames were conserved among them, and the same exon/intron boundary phases were observed in those regions. This region was used for the phylogenetic analyses. RhR-1 and RhR-2 formed a cluster on the phylogenetic tree of the Rh gene family. Gene duplication time of RhR-1 and RhR-2 was estimated to be ca. 500 million years ago. It is likely that the four Rh family genes in vertebrates emerged by gene duplications in the common ancestor of vertebrates, and functional differentiation has occurred after the first gene duplication.

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The Rhesus System

Cited by 20 publications

References 168 publications

Gene arrangement at the Rhesus blood group locus of chimpanzees detected by fiber-FISH

Gene arrangement at the Rhesus blood group locus of chimpanzees detected by fiber-FISH

Characterization of Human RhCG and Mouse Rhcg as Novel Nonerythroid Rh Glycoprotein Homologues Predominantly Expressed in Kidney and Testis

Evolution of two Rh blood group-related genes of the amphioxus species Branchiostoma floridae

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