Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes
1 Institute of Tropical Medicine, University of Tübingen, Tübingen, Germany
2 Laboratory of Molecular Immunopathology, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil
3 Department of Genetics and Evolutionary Biology, Institute of Bioscience, University of São Paulo, São Paulo, Brazil
4 Department of Genetics, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil
5 Institute of Physiology I, University of Tübingen, Germany
6 Medical Research Unit, Albert Schweitzer Hospital, Lambaréné, Gabon
7 Department of Medical Biometry, University of Tübingen, Tübingen, Germany
8 Laboratory of Human Molecular Genetics, Federal University of Paraná, Brazil
BMC Genetics 2010, 11:38 doi:10.1186/1471-2156-11-38Published: 14 May 2010
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.