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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles
Human Molecular Genetics, Volume 15, No. 17, Year 2006
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Description
Human mannose-binding lectin (MBL) is a member of the collectin protein family that binds a broad range of microorganisms and activates the lectin-complement pathway of innate immunity. Common alleles of MBL2 disrupt the MBL protein or modulate the amount of protein produced, resulting in MBL deficiency. The clinical manifestations of MBL deficiency have been extensively studied but the actual role of this lectin in immunity to infection remains a matter of strong debate. MBL is commonly thought to play a key role in protective immunity, because MBL deficiency has been associated with an increase in susceptibility to infectious diseases. However, the high worldwide prevalence of multiple MBL2 deficiency or low-producing alleles suggests the converse that MBL deficiency confers protection. To explore the underlying forces accounting for the high worldwide prevalence of MBL2 deficiency alleles, we characterized genetic diversity in and around the MBL2 genomic region in 1166 chromosomes from 24 worldwide populations. Our results clearly demonstrate that the patterns of MBL2 variation are compatible with neutral evolution, as opposed to negative, positive or balanced natural selection. The high worldwide frequencies of MBL2 alleles associated with the production of little or no protein therefore result exclusively from human migration and genetic drift. The evolutionary neutrality of MBL2 strongly supports the notion that MBL2 variation does not have strong effects on population fitness, suggesting, therefore, that this lectin is largely redundant in host human defences. © 2006 Oxford University Press.
Authors & Co-Authors
Verdu, Paul
France, Paris
Institut Pasteur, Paris
France, Paris
Museé de L'homme
Barreiro, Luis B.
France, Paris
Institut Pasteur, Paris
Patin, Etienne
France, Paris
Institut Pasteur, Paris
France, Paris
Museé de L'homme
Gessain, Antoine
France, Paris
Institut Pasteur, Paris
Cassar, Olivier
France, Paris
Institut Pasteur, Paris
Kidd, Judith R.
United States, New Haven
Yale School of Medicine
Kidd, Kenneth K.
United States, New Haven
Yale School of Medicine
Behar, Doron M.
Israel, Haifa
Rambam Health Care Campus Israel
Froment, Alain
France, Paris
Museé de L'homme
Heyer, Evelyne
France, Paris
Museé de L'homme
Sica, Lucas
Gabon, Franceville
Centre International de Recherches Medicales de Franceville
Casanova, Jean Laurent
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Hôpital Necker Enfants Malades
Abel, Laurent
France, Paris
L'institut Des Maladies Génétiques Imagine
Quintana-Murci, Lluís
France, Paris
Institut Pasteur, Paris
Statistics
Citations: 120
Authors: 14
Affiliations: 7
Identifiers
Doi:
10.1093/hmg/ddl193
ISSN:
09646906
e-ISSN:
14602083
Research Areas
Genetics And Genomics
Study Design
Cross Sectional Study