title: Identification of single nucleotide polymorphisms in the Nicastrese goat and Sardinia sheep mannose-binding lectin.
abstract: This study was undertaken to detect polymorphisms in the goat and sheep mannose-binding lectin encoding gene (MBL2) and to explore allelic variability of this gene in these two species. The analysis and comparison of the sequences obtained from sheep showed 13 polymorphic sites, six in the promoter and seven in exon 1, four of which were of the missense type. In the goats, 12 polymorphic sites were detected, five intronic, five in the promoter, and one exonic. The exon site was responsible for an amino acid change. Mutations detected at the MBL2 locus in the sheep are of particular interest, being potentially responsible for the alterations of gene expression. A population survey involved 102 ewes of the Sardinian breed and 218 goats of the Nicastrese breed, all reared in southern Italy.
authors.affiliation: Dipartimento di Scienze del Suolo, della Pianta, dell'Ambiente e delle Produzioni Animali, Università degli Studi di Napoli "Federico II", via Università 100, 80055, Portici, Napoli, Italy. giacosen@unina.it
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Cosenza
authors.forename: Alfredo
authors.initials: A
authors.lastname: Pauciullo
authors.forename: Andrea
authors.initials: A
authors.lastname: Mancusi
authors.forename: Annalisa
authors.initials: A
authors.lastname: D'Avino
authors.forename: Letizia
authors.initials: L
authors.lastname: Colimoro
authors.forename: Dino
authors.initials: D
authors.lastname: Di Berardino
authors.forename: Luigi
authors.initials: L
authors.lastname: Ramunno
mesh_terms: D000818:Animals; D005091:Exons; D005260:Female; D006041:Goats / Q000235:genetics*; D007113:Immunity, Innate / Q000235:genetics; D007438:Introns; D007558:Italy; D037241:Mannose-Binding Lectins / Q000235:genetics*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D034561:Sheep, Domestic / Q000235:genetics*
chemical_list: D037241:Mannose-Binding Lectins