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

• Published in: BMC genetics Vol. 11; no. 1; p. 38
• Main Authors: Boldt, Angelica B W, Messias-Reason, Iara J, Meyer, Diogo, Schrago, Carlos G, Lang, Florian, Lell, Bertrand, Dietz, Klaus, Kremsner, Peter G, Petzl-Erler, Maria Luiza, Kun, Jürgen F J
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 14-05-2010; BioMed Central; BMC
• Subjects: Colleges & universities; Data processing; Evolution; Evolution, Molecular; Evolutionary biology; Gene polymorphism; Genetic aspects; Genetic polymorphisms; Genetic susceptibility; Genetic Variation; Genetics; Haplotypes; Hospitals; Humans; Lectins; Mannose-binding lectin; Mannose-Binding Lectin - genetics; Neutrality; Nomenclature; Nucleotides; Phylogenetics; Phylogeny; Physiological aspects; Polymorphism, Single Nucleotide; Proteins; Research article; Stochasticity; Terminology as Topic; Tropical diseases; Brazil; Germany
• ISSN: 1471-2156; 1471-2156
• DOI: 10.1186/1471-2156-11-38

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.
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.
Using extensive testing for selective neutrality, we confirmed that stochastic evolutionary factors have had a major role in shaping this polymorphic gene worldwide.