Abstract
The high-incidence erythrocyte blood group antigen Jra has been known in transfusion medicine for over 40 years. To identify the gene encoding Jra, we performed SNP analysis of genomic DNA from six Jr(a−) individuals. All individuals shared a homozygous region of 397,000 bp at chromosome 4q22.1 that contained the gene ABCG2, and DNA sequence analysis showed that ABCG2 null alleles define the Jr(a−) phenotype.
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References
Stroup, M. & MacIlroy, M. Jr. Proceedings of the 23rd Annual Meeting of the American Association of Blood Banks A86 (1970).
Daniels, G. in Human Blood Groups 2nd edn. 505–513 (Blackwell, Oxford, UK, 2002).
Nakajima, H. & Ito, K. Vox Sang. 35, 265–267 (1978).
Leimanis, M.L. & Georges, E. Biochem. Biophys. Res. Commun. 354, 345–350 (2007).
Matsuo, H. et al. Science Transl. Med. 1, 5ra11 (2010).
Woodward, O.M. et al. Proc. Natl. Acad. Sci. USA 106, 10338–10342 (2009).
Woodward, O.M., Köttgen, A. & Köttgen, M. FEBS J. 278, 3215–3225 (2011).
Mizuarai, S., Aozasa, N. & Kotani, H. Int. J. Cancer 109, 238–246 (2004).
Doyle, L.A. et al. Proc. Natl. Acad. Sci. USA 95, 15665–15670 (1998).
Gedeon, C., Anger, G., Piquette-Miller, M. & Koren, G. Placenta 29, 39–43 (2008).
Huls, M., Russel, F.G. & Masereeuw, R. J. Pharmacol. Exp. Ther. 328, 3–9 (2009).
Krishnamurthy, P. et al. J. Biol. Chem. 279, 24218–24225 (2004).
van Herwaarden, A.E. et al. Mol. Cell Biol. 27, 1247–1253 (2007).
Jonker, J.W. et al. Nat. Med. 11, 127–129 (2005).
Lee, S.S. et al. Drug Metab. Dispos. 35, 623–632 (2007).
Acknowledgements
We would like to thank K. McManus for preparing Supplementary Figure 1. The authors are grateful to B. Triggs-Raine, S. Israels and K. McManus for critically reading the manuscript. The study was supported by an operating grant from The Winnipeg Rh Institute Foundation (to T.Z.).
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T.Z., G.C. and M.E.R. designed the project, conducted the experiments and analyzed the data. X.-Q.L. provided supplementary analysis of the SNP data. All authors contributed to the final manuscript.
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Supplementary Methods, Supplementary Tables 1 and 2 and Supplementary Figure 1 (PDF 687 kb)
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Zelinski, T., Coghlan, G., Liu, XQ. et al. ABCG2 null alleles define the Jr(a−) blood group phenotype. Nat Genet 44, 131–132 (2012). https://doi.org/10.1038/ng.1075
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DOI: https://doi.org/10.1038/ng.1075
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