A Natural History of FUT2 Polymorphism in Humans

11 páginas, 2 figuras, 3 tablas.

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Main Authors: Ferrer Admetlla, Anna, Sikora, Martin, Laayouni, Hafid, Esteve-Codina, Anna, Roubinet, Francis, Blancher, Antoine, Calafell, Francesc, Bertranpetit, Jaume, Casals, Ferran
Format: artículo biblioteca
Language:English
Published: Oxford University Press 2009-09
Subjects:FUT2, Balancing selection, Secretor phenotype, Nonsecretor phenotype, Humans, Global diversity,
Online Access:http://hdl.handle.net/10261/43712
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spelling 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
institution IBE ES
collection DSpace
country España
countrycode ES
component Bibliográfico
access En linea
databasecode dig-ibe-es
tag biblioteca
region Europa del Sur
libraryname Biblioteca del IBE España
language English
topic FUT2
Balancing selection
Secretor phenotype
Nonsecretor phenotype
Humans
Global diversity
FUT2
Balancing selection
Secretor phenotype
Nonsecretor phenotype
Humans
Global diversity
spellingShingle 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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