The blood groups and other hereditary blood factors of the Icelanders

Tills, D.; Warlow, A.; Kopeć, Ada C.; Fridriksson, Sturla; Mourant, A. E.

doi:10.1080/03014468200006041

Cited by 9 publications

(7 citation statements)

References 11 publications

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“…Why has P. falciparum evolved so many pathways for invasion? The erythrocyte surface molecules are highly polymorphic within the human population (34)(35)(36)(37)(38). It has been reported that the fastest evolving genes in the human lineage are the glycophorins A and B (39).…”

Section: Discussionmentioning

confidence: 99%

Polymorphism in the Plasmodium falciparum erythrocyte-binding ligand JESEBL/EBA-181 alters its receptor specificity

Mayer

Kaneko

et al. 2004

Proc. Natl. Acad. Sci. U.S.A.

107

138

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The malaria parasite lives within erythrocytes and depends on the binding of parasite ligands to host cell surface receptors for invasion. The most virulent human malaria parasite, Plasmodium falciparum, uses multiple ligands, including EBA-175, BAEBL, and JESEBL of the Duffy-binding-like (DBL) family of erythrocytebinding proteins, for invasion of human erythrocytes. Region II of these parasite ligands is the erythrocyte-binding domain. Previously, we had shown that polymorphism in region II of BAEBL leads to different erythrocyte-binding specificities. We have now identified and characterized the binding specificity of six JESEBL variants. We sequenced region II of JESEBL from 20 P. falciparum clones collected from various parts of the world where malaria is endemic. We observed eight JESEBL variants that contained amino acid polymorphisms at five positions among all clones. Seven of the eight variants could be connected by a single base change that led to an amino acid change. We investigated the functional significance of these polymorphisms by transiently expressing region II from six of JESEBL variants on the surface of Chinese hamster ovary cells. We observed four erythrocyte-binding patterns to enzymetreated erythrocytes. Thus, P. falciparum DBL ligands JESEBL and BAEBL can recognize multiple receptors on the erythrocyte surface. In contrast to Plasmodium vivax, which has disappeared from West Africa because of the Duffy-negative blood group, P. falciparum may have been successful in endemic areas because it has mutated the ligands of the DBL family to create multiple pathways of invasion, thus making selection of refractory erythrocytes unlikely.parasite polymorphism A ll of the clinical manifestations associated with human malaria infection are due to the asexual erythrocytic phase of the Plasmodium life cycle. Although the process by which the parasite enters erythrocytes is complex and not well understood, invasion of erythrocytes by Plasmodium can be divided into multiple steps. Initial attachment of the parasite to the erythrocyte is followed by reorientation to bring the apical end of the parasite into close contact with the surface of the erythrocyte (1). The parasite forms a junction between its apical end and the erythrocyte surface. Junction formation is irreversible and is followed by entry through invagination of the erythrocyte membrane (2). The process of junction formation is mediated by interaction between specific erythrocyte receptors and specific parasite ligands, as indicated by the inability of Plasmodium knowlesi, a simian malaria parasite that can infect humans, to form a junction with human erythrocytes lacking the Duffy blood group antigen and Plasmodium vivax to invade erythrocytes and infect Duffy-negative individuals (3-5).Unlike P. vivax, which is restricted to the erythrocytes expressing the Duffy blood group antigen and to reticulocytes, invasion of human erythrocytes by Plasmodium falciparum involves a number of apparently redundant receptor-ligand interactions between th...

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Section: Discussionmentioning

confidence: 99%

Polymorphism in the Plasmodium falciparum erythrocyte-binding ligand JESEBL/EBA-181 alters its receptor specificity

Mayer

Kaneko

et al. 2004

Proc. Natl. Acad. Sci. U.S.A.

107

138

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“…The frequency of the PGM1 allele in the Icelandic population (in the present study) is lower than that observed by Bjarnason at a1. (1973) and Tills et al (1982); consequently, the frequency of PGM1 2 is higher. The Icelandic population with PGM1 1 and PGM1 2 gene frequencies of 0,7999 and 0,2001, respectively, as found from isoelectric focusing, shows a greater similarity to the reported Danish, Swedish and Norwegian gene frequencies, than to those reported for the Irish population.…”

Section: Resultsmentioning

confidence: 94%

“…They are, respectively, 0,7999 for PGM1 and 0,2001 for PGM1 2, and can therefore be compared with the results of the study by Bjarnason et a1. (1973) and Tills et al (1982) on the distribution of PGM1 by using a system of three "old" phenotypes: PGM1 1, PGM1 2 and PGM1 2-1 (Table 4). The frequency of the PGM1 allele in the Icelandic population (in the present study) is lower than that observed by Bjarnason at a1.…”

Section: Resultsmentioning

confidence: 99%

“…While the original Icelandic population was composed of a mixture of Norse and Celtic settlers -a fact not generally disputed -the proportion of Viking to Celtic genes in the early settlers has been a highly debated topic. Consequently, Iceland's population has been, notoriously, the subject of numerous scientific studies (Hanesson, 1925;Donegani et al, 1950;Steffensen, 1953;Thompson, 1973;P~ilsson, 1974, 1976, 1978Tomasson, 1977;Walter, 1981;Jorde et al, 1982;Tills et al, 1982;Wijsman, 1984;AOalsteinsson, 1985;Chakraborty, 1986;Williams, 1993) which have, unfortunately, not provided concrete answers to the question of provenance. Ironically, all of this genetic, anthropological and demographic data does not contribute a great deal more to the corpus of knowledge than was already known from historic accounts of the first settlers.…”

Section: Introductionmentioning

confidence: 98%

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Isoelectric subtyping of the PGM1 in the Icelandic population

Klonowski

1997

Int. J. Anthropol.

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Isoelectric subtyping of the PGM1 in the Icelandic populationPhenotypes for the red blood cell enzyme phosphoglucomutase (PGMI) were determined by isoelectric focusing for a population of 2,501 Icelandic individuals. All ten phenotypes were observed, and the frequencies of four alleles at the PGM1 locus were as follows: PGMI 1+ = 0.6875; PGM1 1-= 0.1124; PGM1 2+ = 0.1419, and PGM1 2-= 0.0582. These results have been compared with those found in other northern European populations.

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“…Therefore, if the antigen is absent in a population, that tribe may have arrived prior t o carriers of the gene. Tills (1982) suggests that there may have been as many as five migra-tions of Indians in the Americas with varying percentages of Dia genes in these populations. The recent review by Szathmary (1984) examines the question of a single migration or multiple migrations from Asia to America and is of particular interest.…”

Section: Discussionmentioning

confidence: 99%

Blood types of the native Americans of Oklahoma

Kasprisin¹,

Crow²,

McClintock³

et al. 1987

American J Phys Anthropol

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Large numbers of Indians from Oklahoma were screened for a variety of red cell antigens. Sufficient numbers of Cherokees, Creeks, and Choctaws were studied to calculate gene frequencies. These tribes originated in the Southeastern United States and were forcibly moved to Oklahoma. The Creeks and Choctaws have not been studied previously. A small number of Cherokees remained in North Carolina, and their blood types have been reported. The blood types of the Oklahoma Cherokees are quite similar to those observed there but one important difference was discovered. The data previously reported concerning the Eastern Cherokees revealed the absence of the Dia antigen. The present study found that the Oklahoma Cherokees do have the Dia antigen, although in a lower percentage than the other southeastern tribes. The Creeks and Choctaws share a linguistic heritage as well as having similar red cell phenotypes.

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The blood groups and other hereditary blood factors of the Icelanders

Cited by 9 publications

References 11 publications

Polymorphism in the Plasmodium falciparum erythrocyte-binding ligand JESEBL/EBA-181 alters its receptor specificity

Polymorphism in the Plasmodium falciparum erythrocyte-binding ligand JESEBL/EBA-181 alters its receptor specificity

Isoelectric subtyping of the PGM1 in the Icelandic population

Blood types of the native Americans of Oklahoma

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