The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.
Open accessAbstract
Southeast Asian ovalocytosis (SAO) is a hereditary condition that is widespread in parts of Southeast Asia. The ovalocytic erythrocytes are rigid and resistant to invasion by various malarial parasites. We have previously found that the underlying defect in SAO involves band 3 protein, the major transmembrane protein, which has abnormal structure and function. We now report two linked mutations in the erythrocyte band 3 gene in SAO: (i) a deletion of codons 400-408 and (ii) a substitution, A----G, in the first base of codon 56 leading to substitution of Lys-56 by Glu-56. The first defect leads to a deletion of nine amino acids in the boundary of cytoplasmic and membrane domains of band 3. This defect has been detected in all 30 ovalocytic subjects from Malaysia, the Philippines, and two unrelated coastal regions of Papua New Guinea, whereas it was absent in all 30 controls from Southeast Asia and 20 subjects of different ethnic origin from the United States. The Lys-56----Glu substitution has likewise been found in all SAO subjects. However, it has also been detected in 5 of the 50 control subjects, suggesting that it represents a linked polymorphism. We conclude that the deletion of codons 400-408 in the band 3 gene constitutes the underlying molecular defect in SAO.
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Cites
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Cited by
Red cell membrane: past, present, and future
Mohandas, N., & Gallagher, P. G. (2008) · Blood · doi:10.1182/blood-2008-07-161166 · Cited by 1,089
Cockburn, I. A., Mackinnon, M. J., O'Donnell, A., Allen, S. J., Moulds, J. M., Baisor, M., Bockarie, M., Reeder, J. C., & Rowe, J. A. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0305306101 · Cited by 255
SOUTHEAST ASIAN OVALOCYTOSIS AND PREGNANCY IN A MALARIA-ENDEMIC REGION OF PAPUA NEW GUINEA
O’DONNELL, A., RAIKO, A., CLEGG, J. B., WEATHERALL, D. J., & ALLEN, S. J. (2007) · The American Journal of Tropical Medicine and Hygiene · doi:10.4269/ajtmh.2007.76.631 · Cited by 8
Metadata
- Authors
- Jarolim, P., Palek, J., Amato, D., Hassan, K., Sapak, P., Nurse, G. T., Rubin, H. L., Zhai, S., Sahr, K. E., & Liu, S. C.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1991-12-15
- Volume
- 88
- Issue
- 24
- Pages
- 11022-11026
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1965780695
- Cited by
- 292
- References
- 10
- FWCI
- 6.55
- Type
- journal article
- Language
- en
- Open access
- green
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- Jarolim, P., Palek, J., Amato, D., Hassan, K., Sapak, P., Nurse, G. T., Rubin, H. L., Zhai, S., Sahr, K. E., & Liu, S. C. (1991). Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.88.24.11022
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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