title: Polymorphisms of beta-lactoglobulin promoter region in three Sicilian goat breeds.
abstract: Several beta-lactoglobulin (BLG) polymorphisms have been described within the proximal promoter region and coding region of the caprine gene, although no genetic variants affecting the protein amino acid composition and/or expression level have been characterized so far. Binding sites for several transcription factors (TFs) are present in the BLG promoter region. The aims of this work were to sequence the full-length promoter region of three Sicilian goat breeds in order to identify polymorphisms, analyze the identified haplotypes, search for differences between breeds for the presence of polymorphisms in this gene region, search for putative TFs binding sites, and check if polymorphisms lay within the identified TFs binding sites. The promoter region of BLG gene in Sicilian goat breeds showed high level of polymorphism due to the presence of 36 single nucleotide polymorphisms (SNPs). Association between polymorphic sites was computed within the whole sample analyzed and 18 haplotypes were inferred. Binding sites for three milk protein binding factors (MPBFs) and four nuclear factor-I (NF-I) were found within BLG promoter region based on the ovine sequence. The identification of some SNPs within TFs binding sites allowed hypothesizing the loss of TFs. Further studies are in progress to evaluate the effect of these mutations on binding affinity of TFs, the functional interaction of the TFs with the goat BLG promoter, and the relationship of the polymorphisms with BLG gene expression and milk production and composition.
authors.affiliation: Dipartimento DEMETRA-Sezione Produzioni Animali, University of Palermo, Viale delle Scienze-Parco d'Orleans, 90128 Palermo, Italy. mtsardina@unipa.it
authors.forename: M T
authors.initials: MT
authors.lastname: Sardina
authors.forename: A J M
authors.initials: AJ
authors.lastname: Rosa
authors.forename: R
authors.initials: R
authors.lastname: Davoli
authors.forename: S
authors.initials: S
authors.lastname: Braglia
authors.forename: B
authors.initials: B
authors.lastname: Portolano
mesh_terms: D000818:Animals; D001483:Base Sequence; D016000:Cluster Analysis; D014644:Genetic Variation; D006041:Goats / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D007782:Lactoglobulins / Q000235:genetics*; D008894:Milk Proteins / Q000378:metabolism; D008957:Models, Genetic; D008969:Molecular Sequence Data; D051839:NFI Transcription Factors / Q000378:metabolism; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012802:Sicily; D013045:Species Specificity
chemical_list: D007782:Lactoglobulins; D008894:Milk Proteins; D051839:NFI Transcription Factors