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Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes

BACKGROUND: Polymorphisms of the mannose-binding lectin gene (MBL2) affect the concentration and functional efficiency of the protein. We recently used haplotype-specific sequencing to identify 23 MBL2 haplotypes, associated with enhanced susceptibility to several diseases. RESULTS: In this work, we...

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Autores principales: Boldt, Angelica BW, Messias-Reason, Iara J, Meyer, Diogo, Schrago, Carlos G, Lang, Florian, Lell, Bertrand, Dietz, Klaus, Kremsner, Peter G, Petzl-Erler, Maria Luiza, Kun, Jürgen FJ
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2885306/
https://www.ncbi.nlm.nih.gov/pubmed/20465856
http://dx.doi.org/10.1186/1471-2156-11-38
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author Boldt, Angelica BW
Messias-Reason, Iara J
Meyer, Diogo
Schrago, Carlos G
Lang, Florian
Lell, Bertrand
Dietz, Klaus
Kremsner, Peter G
Petzl-Erler, Maria Luiza
Kun, Jürgen FJ
author_facet Boldt, Angelica BW
Messias-Reason, Iara J
Meyer, Diogo
Schrago, Carlos G
Lang, Florian
Lell, Bertrand
Dietz, Klaus
Kremsner, Peter G
Petzl-Erler, Maria Luiza
Kun, Jürgen FJ
author_sort Boldt, Angelica BW
collection PubMed
description BACKGROUND: Polymorphisms of the mannose-binding lectin gene (MBL2) affect the concentration and functional efficiency of the protein. We recently used haplotype-specific sequencing to identify 23 MBL2 haplotypes, associated with enhanced susceptibility to several diseases. RESULTS: In this work, we applied the same method in 288 and 470 chromosomes from Gabonese and European adults, respectively, and found three new haplotypes in the last group. We propose a phylogenetic nomenclature to standardize MBL2 studies and found two major phylogenetic branches due to six strongly linked polymorphisms associated with high MBL production. They presented high Fst values and were imbedded in regions with high nucleotide diversity and significant Tajima's D values. Compared to others using small sample sizes and unphased genotypic data, we found differences in haplotyping, frequency estimation, Fu and Li's D* and Fst results. CONCLUSION: Using extensive testing for selective neutrality, we confirmed that stochastic evolutionary factors have had a major role in shaping this polymorphic gene worldwide.
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spelling pubmed-28853062010-06-15 Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes Boldt, Angelica BW Messias-Reason, Iara J Meyer, Diogo Schrago, Carlos G Lang, Florian Lell, Bertrand Dietz, Klaus Kremsner, Peter G Petzl-Erler, Maria Luiza Kun, Jürgen FJ BMC Genet Research article BACKGROUND: Polymorphisms of the mannose-binding lectin gene (MBL2) affect the concentration and functional efficiency of the protein. We recently used haplotype-specific sequencing to identify 23 MBL2 haplotypes, associated with enhanced susceptibility to several diseases. RESULTS: In this work, we applied the same method in 288 and 470 chromosomes from Gabonese and European adults, respectively, and found three new haplotypes in the last group. We propose a phylogenetic nomenclature to standardize MBL2 studies and found two major phylogenetic branches due to six strongly linked polymorphisms associated with high MBL production. They presented high Fst values and were imbedded in regions with high nucleotide diversity and significant Tajima's D values. Compared to others using small sample sizes and unphased genotypic data, we found differences in haplotyping, frequency estimation, Fu and Li's D* and Fst results. CONCLUSION: Using extensive testing for selective neutrality, we confirmed that stochastic evolutionary factors have had a major role in shaping this polymorphic gene worldwide. BioMed Central 2010-05-14 /pmc/articles/PMC2885306/ /pubmed/20465856 http://dx.doi.org/10.1186/1471-2156-11-38 Text en Copyright ©2010 Boldt et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research article
Boldt, Angelica BW
Messias-Reason, Iara J
Meyer, Diogo
Schrago, Carlos G
Lang, Florian
Lell, Bertrand
Dietz, Klaus
Kremsner, Peter G
Petzl-Erler, Maria Luiza
Kun, Jürgen FJ
Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes
title Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes
title_full Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes
title_fullStr Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes
title_full_unstemmed Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes
title_short Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes
title_sort phylogenetic nomenclature and evolution of mannose-binding lectin (mbl2) haplotypes
topic Research article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2885306/
https://www.ncbi.nlm.nih.gov/pubmed/20465856
http://dx.doi.org/10.1186/1471-2156-11-38
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