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


Autoria(s): 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, Juergen F. J.
Contribuinte(s)

UNIVERSIDADE DE SÃO PAULO

Data(s)

18/04/2012

18/04/2012

2010

Resumo

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.

Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq)

Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES)

Identificador

BMC GENETICS, v.11, MAY 14, 2010

1471-2156

http://producao.usp.br/handle/BDPI/15766

10.1186/1471-2156-11-38

http://dx.doi.org/10.1186/1471-2156-11-38

Idioma(s)

eng

Publicador

BIOMED CENTRAL LTD

Relação

BMC Genetics

Direitos

openAccess

Copyright BIOMED CENTRAL LTD

Palavras-Chave #GENE POLYMORPHISMS #DNA POLYMORPHISM #INNATE IMMUNITY #PROTEIN LEVELS #POPULATION #SELECTION #PROMOTER #ASSOCIATION #MUTATIONS #SUSCEPTIBILITY #Genetics & Heredity
Tipo

article

original article

publishedVersion