title: Distinct and overlapping functions of allelic forms of human mannose binding protein.
abstract: Human mannose binding protein (MBP) is a C-type serum lectin involved in first-line host defense against a variety of bacterial, fungal and viral pathogens. Recently an association was found between low levels of serum MBP and an increased frequency of recurrent infections in infants. A particular genotype, in which glycine is substituted by aspartic acid at codon 54 of MBP in the fifth collagen repeat, shows apparent concordance with the clinical phenotype. We report, however, that this genotype occurs in 5% of the population and encodes a functional protein. Our results indicate that the Gly54Asp allele does not account for a deficiency state, but instead suggest that MBP may have two predominant allelic forms that have overlapping function and differ only in their ability to activate the classical pathway of complement.
authors.affiliation: Harvard Department of Pediatrics, Children's Hospital, Boston, Massachusetts.
authors.forename: M
authors.initials: M
authors.lastname: Super
authors.forename: S D
authors.initials: SD
authors.lastname: Gillies
authors.forename: S
authors.initials: S
authors.lastname: Foley
authors.forename: K
authors.initials: K
authors.lastname: Sastry
authors.forename: J E
authors.initials: JE
authors.lastname: Schweinle
authors.forename: V J
authors.initials: VJ
authors.lastname: Silverman
authors.forename: R A
authors.initials: RA
authors.lastname: Ezekowitz
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002352:Carrier Proteins / Q000097:blood / Q000235:genetics* / Q000276:immunology; D003171:Complement Pathway, Classical; D004247:DNA / Q000235:genetics; D005838:Genotype; D006801:Humans; D007223:Infant; D007239:Infections / Q000276:immunology; D008358:Mannose / Q000378:metabolism*; D037241:Mannose-Binding Lectins; D008969:Molecular Sequence Data; D015394:Molecular Structure; D009895:Opsonin Proteins / Q000235:genetics; D010641:Phenotype; D017354:Point Mutation
chemical_list: D002352:Carrier Proteins; D037241:Mannose-Binding Lectins; D009895:Opsonin Proteins; D004247:DNA; D008358:Mannose