title: Molecular characterisation, genetic variability and detection of a functional polymorphism influencing the promoter activity of OXT gene in goat and sheep.
abstract: The purpose of the study described in this Research Communication was to report the full characterisation of the goat and sheep oxytocin-neurophysin I gene (OXT), their promoters and amino acid sequences. Using the genomic DNA as template, we sequenced and compared the whole OXT gene (3 exons), plus 958/960 nucleotides at the 5' flanking region and 478/477 nucleotides at the 3' flanking region, in 46 sheep and 24 goats belonging to different breeds/genetic types reared in Italy, Greece and Germany. The comparison of the obtained sequences showed a high degree of genetic variability at these loci. In particular, we focused on the SNP g.438T > C as possible example of trans-specific polymorphism. This SNP alters a putative binding site of the transcription factor Oct-1. The set-up of a luciferase assay confirmed that the C variant of this SNP negatively affects the promoter activity of the sheep OXT gene. The results of this study suggest that the SNP g.438T > C might be useful to promote association studies with traits/physiological processes controlled by this hormone.
authors.affiliation: Department of Agricultural Sciences,University of Naples 'Federico II',Portici (NA),Italy.
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Cosenza
authors.affiliation: Department of Agricultural Sciences,University of Naples 'Federico II',Portici (NA),Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Iannaccone
authors.affiliation: Department of Agricultural Sciences,University of Naples 'Federico II',Portici (NA),Italy.
authors.forename: Boipuso Alpheus
authors.initials: BA
authors.lastname: Pico
authors.affiliation: Department of Agricultural Sciences,University of Naples 'Federico II',Portici (NA),Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Gallo
authors.affiliation: Department of Agricultural Sciences,University of Naples 'Federico II',Portici (NA),Italy.
authors.forename: Rosanna
authors.initials: R
authors.lastname: Capparelli
authors.affiliation: Department of Agricultural, Forest and Food Science,University of Torino,Grugliasco (TO),Italy.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Pauciullo
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001665:Binding Sites / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D005858:Germany; D006041:Goats / Q000235:genetics*; D006115:Greece; D007558:Italy; D009481:Neurophysins / Q000737:chemistry / Q000235:genetics*; D050811:Octamer Transcription Factor-1 / Q000378:metabolism; D010121:Oxytocin / Q000737:chemistry / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012756:Sheep / Q000235:genetics*
chemical_list: D009481:Neurophysins; D050811:Octamer Transcription Factor-1; D010121:Oxytocin
keywords: 
                 Capra hircus
              ; 
                 OXT locus
              ; 
                 Ovis aries
              ; gene polymorphism; luciferase assay