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Molecular characterisation, genetic variability and detection of a functional polymorphism influencing the promoter activity of OXT gene in goat and sheep

Published online by Cambridge University Press:  14 March 2017

Gianfranco Cosenza
Affiliation:
Department of Agricultural Sciences, University of Naples ‘Federico II’, Portici (NA), Italy
Marco Iannaccone*
Affiliation:
Department of Agricultural Sciences, University of Naples ‘Federico II’, Portici (NA), Italy
Boipuso Alpheus Pico
Affiliation:
Department of Agricultural Sciences, University of Naples ‘Federico II’, Portici (NA), Italy Faculty of Agriculture, Science and Technology, North–West University, Private Bag X2046, MMABATHO, 2735, South Africa
Daniela Gallo
Affiliation:
Department of Agricultural Sciences, University of Naples ‘Federico II’, Portici (NA), Italy
Rosanna Capparelli*
Affiliation:
Department of Agricultural Sciences, University of Naples ‘Federico II’, Portici (NA), Italy
Alfredo Pauciullo
Affiliation:
Department of Agricultural, Forest and Food Science, University of Torino, Grugliasco (TO), Italy
*
*For correspondence; e-mail: [email protected]; [email protected]
*For correspondence; e-mail: [email protected]; [email protected]

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.

Type
Research Article
Copyright
Copyright © Proprietors of Journal of Dairy Research 2017 

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