Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes
Contribuinte(s) |
UNIVERSIDADE DE SÃO PAULO |
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Data(s) |
18/04/2012
18/04/2012
2010
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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 |
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 |