title: Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes.
abstract: 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.
  
  
  CONCLUSIONS
  Using extensive testing for selective neutrality, we confirmed that stochastic evolutionary factors have had a major role in shaping this polymorphic gene worldwide.
authors.affiliation: Institute of Tropical Medicine, University of Tübingen, Tübingen, Germany.
authors.forename: Angelica B W
authors.initials: AB
authors.lastname: Boldt
authors.forename: Iara J
authors.initials: IJ
authors.lastname: Messias-Reason
authors.forename: Diogo
authors.initials: D
authors.lastname: Meyer
authors.forename: Carlos G
authors.initials: CG
authors.lastname: Schrago
authors.forename: Florian
authors.initials: F
authors.lastname: Lang
authors.forename: Bertrand
authors.initials: B
authors.lastname: Lell
authors.forename: Klaus
authors.initials: K
authors.lastname: Dietz
authors.forename: Peter G
authors.initials: PG
authors.lastname: Kremsner
authors.forename: Maria Luiza
authors.initials: ML
authors.lastname: Petzl-Erler
authors.forename: Jürgen F J
authors.initials: JF
authors.lastname: Kun
mesh_terms: D019143:Evolution, Molecular; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D037601:Mannose-Binding Lectin / Q000235:genetics*; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D009626:Terminology as Topic
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin
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