A Natural History of FUT2 Polymorphism in Humans
11 páginas, 2 figuras, 3 tablas.
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Format: | artículo biblioteca |
Language: | English |
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Oxford University Press
2009-09
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Subjects: | FUT2, Balancing selection, Secretor phenotype, Nonsecretor phenotype, Humans, Global diversity, |
Online Access: | http://hdl.handle.net/10261/43712 |
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dig-ibe-es-10261-437122022-11-04T12:51:47Z A Natural History of FUT2 Polymorphism in Humans Ferrer Admetlla, Anna Sikora, Martin Laayouni, Hafid Esteve-Codina, Anna Roubinet, Francis Blancher, Antoine Calafell, Francesc Bertranpetit, Jaume Casals, Ferran FUT2 Balancing selection Secretor phenotype Nonsecretor phenotype Humans Global diversity 11 páginas, 2 figuras, 3 tablas. Because pathogens are powerful selective agents, host-cell surface molecules used by pathogens as identification signals can reveal the signature of selection. Most of them are oligosaccharides, synthesized by glycosyltransferases. One known example is balancing selection shaping ABO evolution as a consequence of both, A and B antigens being recognized as receptors by some pathogens, and anti-A and/or anti-B natural antibodies produced by hosts conferring protection against the numerous infectious agents expressing A and B motifs. These antigens can also be found in tissues other than blood if there is activity of another enzyme, FUT2, a fucosyltransferase responsible for ABO biosynthesis in body fluids. Homozygotes for null variants at this locus present the nonsecretor phenotype (se), because they cannot express ABO antigens in secretions. Multiple independent mutations have been shown to be responsible for the nonsecretor phenotype, which is coexisting with the secretor phenotype in most populations. In this study, we have resequenced the coding region of FUT2 in 732 individuals from 39 worldwide human populations. We report a complex pattern of natural selection acting on the gene. Although frequencies of secretor and nonsecretor phenotypes are similar in different populations, the point mutations at the base of the phenotypes are different, with some variants showing a long history of balancing selection among Eurasian and African populations, and one recent variant showing a fast spread in East Asia, likely due to positive selection. Thus, a convergent phenotype composition has been achieved through different mutations with different evolutionary histories. This research was funded by grants BFU2005-00243 and SAF-2007-63171 awarded by Ministerio de Educación y Ciencia (Spain) and by the Direcció General de Recerca of Generalitat de Catalunya (Grup de Recerca Consolidat 2005SGR/00608). Funds were also from the Etablissement Francxais du Sang (EFS) Centre Atlantique, and fromthe Ministère Francxais de la Recherche (EA3034). All the sequencing was done at the Genomic Service, Universitat Pompeu Fabra; we thank Stéphanie Plaza and Roger Anglada for their help. Computational analysis was helped by the National Institute for Bioinformatics (www.inab.org), and SNP genotyping services were provided by the Spanish ‘‘Centro Nacional de Genotipado’’ (CEGEN; www.cegen.org); both are platforms of Genoma Espan˜a. A.F.-A. is supported by a PhDfellowship from UPF and M.S. from the Programa de becas FPU del Ministerio de Educación y Ciencia, Spain (AP2005-3982). Peer reviewed 2011-12-26T11:09:52Z 2011-12-26T11:09:52Z 2009-09 artículo http://purl.org/coar/resource_type/c_6501 Molecular Biology and Evolution 26(9): 1993-2003 (2009) 0737-4038 http://hdl.handle.net/10261/43712 10.1093/molbev/msp108 1537-1719 en http://dx.doi.org/10.1093/molbev/msp108 Sí none Oxford University Press |
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FUT2 Balancing selection Secretor phenotype Nonsecretor phenotype Humans Global diversity FUT2 Balancing selection Secretor phenotype Nonsecretor phenotype Humans Global diversity |
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FUT2 Balancing selection Secretor phenotype Nonsecretor phenotype Humans Global diversity FUT2 Balancing selection Secretor phenotype Nonsecretor phenotype Humans Global diversity Ferrer Admetlla, Anna Sikora, Martin Laayouni, Hafid Esteve-Codina, Anna Roubinet, Francis Blancher, Antoine Calafell, Francesc Bertranpetit, Jaume Casals, Ferran A Natural History of FUT2 Polymorphism in Humans |
description |
11 páginas, 2 figuras, 3 tablas. |
format |
artículo |
topic_facet |
FUT2 Balancing selection Secretor phenotype Nonsecretor phenotype Humans Global diversity |
author |
Ferrer Admetlla, Anna Sikora, Martin Laayouni, Hafid Esteve-Codina, Anna Roubinet, Francis Blancher, Antoine Calafell, Francesc Bertranpetit, Jaume Casals, Ferran |
author_facet |
Ferrer Admetlla, Anna Sikora, Martin Laayouni, Hafid Esteve-Codina, Anna Roubinet, Francis Blancher, Antoine Calafell, Francesc Bertranpetit, Jaume Casals, Ferran |
author_sort |
Ferrer Admetlla, Anna |
title |
A Natural History of FUT2 Polymorphism in Humans |
title_short |
A Natural History of FUT2 Polymorphism in Humans |
title_full |
A Natural History of FUT2 Polymorphism in Humans |
title_fullStr |
A Natural History of FUT2 Polymorphism in Humans |
title_full_unstemmed |
A Natural History of FUT2 Polymorphism in Humans |
title_sort |
natural history of fut2 polymorphism in humans |
publisher |
Oxford University Press |
publishDate |
2009-09 |
url |
http://hdl.handle.net/10261/43712 |
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