title: Structural gene variants in the porcine mannose-binding lectin 1 (MBL1) gene are associated with low serum MBL-A concentrations.
abstract: Mannose-binding lectin (MBL) is a collagenous lectin that kills a wide range of pathogenic microbes through complement activation. The MBL1 and MBL2 genes encode MBL-A and MBL-C, respectively. MBL deficiency in humans is associated with higher susceptibility to viral as well as bacterial infections. A number of single nucleotide polymorphisms (SNP) have been identified in the collagen-like domain of the human MBL gene, of which several are strongly associated with decreased concentrations of MBL in serum. In this study, we have identified a number of SNPs in the porcine MBL-A gene. Sequence comparisons identified a total of 14 SNPs, eight of which were found in exons and six in introns. Four of the eight exon-located SNPs were non-synonymous. Sequence data from several Duroc and Landrace pigs identified four different haplotypes. One haplotype was found in Duroc pigs only, and three haplotypes were found in the Landrace pigs. One of the identified haplotypes was associated with low concentration of MBL-A in serum. The concentration of MBL-A in serum was further assessed in a large number of Duroc and Landrace boars to address its correlation with disease frequency. The MBL-A concentration in Duroc boars showed one single population, whereas Landrace boars showed four distinct populations for MBL-A concentration. The Landrace boars were finally assessed for disease incidence, and the association with the concentration of MBL-A in serum was investigated. No association between MBL and disease incidence was found in this study.
authors.affiliation: Department of Animal Health and Bioscience, Faculty of Agricultural Sciences, University of Aarhus, Tjele, Denmark, Helle. JuulMadsen@agrsci.dk
authors.forename: Helle R
authors.initials: HR
authors.lastname: Juul-Madsen
authors.forename: Rikke M
authors.initials: RM
authors.lastname: Kjærup
authors.forename: Charlotte
authors.initials: C
authors.lastname: Toft
authors.forename: Mark
authors.initials: M
authors.lastname: Henryon
authors.forename: Peter M H
authors.initials: PM
authors.lastname: Heegaard
authors.forename: Peer
authors.initials: P
authors.lastname: Berg
authors.forename: Tina S
authors.initials: TS
authors.lastname: Dalgaard
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D005091:Exons; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000276:immunology; D007438:Introns; D008297:Male; D037601:Mannose-Binding Lectin / Q000097:blood* / Q000235:genetics*; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D013552:Swine / Q000235:genetics* / Q000276:immunology*
chemical_list: D037601:Mannose-Binding Lectin; C069858:mannose binding protein A