Hostname: page-component-cd9895bd7-hc48f Total loading time: 0 Render date: 2024-12-27T13:18:09.140Z Has data issue: false hasContentIssue false
  • English
  • Français

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 ,
Marco Iannaccone ,
Boipuso Alpheus Pico ,
Daniela Gallo ,
Rosanna Capparelli  and
Alfredo Pauciullo
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: m.iannaccone@unina.it; capparel@unina.it
*For correspondence; e-mail: m.iannaccone@unina.it; capparel@unina.it
Get access Rights & Permissions [Opens in a new window]

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.

Keywords

Capra hircusOvis ariesOXT locusgene polymorphismluciferase assay
Type
Research Article
Information
Journal of Dairy Research , Volume 84 , Issue 2 , May 2017 , pp. 165 - 169
Copyright
Copyright © Proprietors of Journal of Dairy Research 2017 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Beato, M 1989 Gene regulation by steroid hormones. Cell 56 335–344 Google Scholar
Burbach, JPH, Luckman, SM, Murphy, D & Gainer, H 2001 Gene regulation in the magnocellular hypothalamo-neurohypophysial system. Physiological Reviews 81 1197–1267 Google Scholar
Cosenza, G, Pauciullo, A, Mancusi, A, Nicodemo, D, Di Palo, R, Zicarelli, L, Di Berardino, D & Ramunno, L 2007 Mediterranean river buffalo oxytocin-neurophysin I (OXT) gene: structure, promoter analysis and allele detection. Italian Journal of Animal Science 6(Suppl. 2) 303–306 Google Scholar
Cosenza, G, Iannaccone, M, Pico, BA, Ramunno, L & Capparelli, R 2016 The SNP g.1311T>C associated with the absence of β-casein in goat milk influences CSN2 promoter activity. Animal Genetics 47 615–617 Google Scholar
Dong, B & Zhao, FQ 2007 Involvement of the ubiquitous Oct-1 transcription factor in hormonal induction of beta-casein gene expression. Biochemical Journal 401 57–64 Google Scholar
Gimpl, G & Fahrenholz, F 2001 The oxytocin receptor system: structure, function, and regulation. Physiological Reviews 81 630–683 Google Scholar
Goossens, M & Kan, YW 1981 DNA analysis in the diagnosis of hemoglobin disorders. Methods in Enzymology 76 805–817 CrossRefGoogle ScholarPubMed
Ivell, R, Hunt, N, Abend, N, Brackman, B, Nollmeye, D, Lamsa, JC & McCracken, JA 1990 Structure and ovarian expression of the oxytocin gene in sheep. Reproduction, Fertility and Development 2 703–711 Google Scholar
Lechner, S, Ferretti, L, Schöning, C, Kinuthia, W, Willemsen, D & Hasselmann, M 2014 Nucleotide variability at its limit? Insights into the number and evolutionary dynamics of the sex-determining specificities of the honey bee Apis mellifera . Molecular Biology and Evolution 31 272–287 Google Scholar
Lollivier, V, Guinard-Flament, J, Ollivier-Bousquet, M & Marnet, PG 2002 Oxytocin and milk removal: two important sources of variation in milk production and milk quality during and between milkings. Reproduction Nutrition Development 42 173–186 Google Scholar
Pauciullo, A, Cosenza, G, Steri, R, Coletta, A, Jemma, L, Feligini, M, Di Berardino, D, Macciotta, NP & Ramunno, L 2012a An association between Single Nucleotide Polymorphisms at the Oxytocin locus and milk yield and flow in Italian Mediterranean river buffalo. Journal of Dairy Research 79 150–156 Google Scholar
Pauciullo, A, Cosenza, G, Steri, R, Coletta, A, La Battaglia, A, Di Berardino, D, Macciotta, NNP & Ramunno, L 2012b A single nucleotide polymorphism (SNP) in the promoter region of River buffalo Stearoyl CoA Desaturase gene (SCD) is associated with milk yield. Journal of Dairy Research 79 429–435 CrossRefGoogle Scholar
Spandidos, DA, Nichols, RAB, Wilkie, NM & Pintzas, A 1988 Phorbol ester responsible H-ras1 gene promoter contains multiple TPA-inducible/AP-1-binding consensus sequence elements. FEBS Letters 240 191–195 Google Scholar
Sytina, EV & Pankratova, EV 2003 Transcription Factor Oct-1: plasticity and multiplicity of functions. Molecular Biology 37 637–648 Google Scholar
Teixeira, JC, de Filippo, C, Weihmann, A, Meneu, JR, Racimo, F, Dannemann, M, Nickel, B, Fischer, A, Halbwax, M, Andre, C, Atencia, R, Meyer, M, Parra, G, Pääbo, S & Andrés, AM 2015 Long-term balancing selection in LAD1 maintains a missense trans-species polymorphism in humans, chimpanzees, and bonobos. Molecular Biology and Evolution 32 1186–1196 CrossRefGoogle ScholarPubMed

Cosenza supplementary material

Cosenza supplementary material

Download Cosenza supplementary material(Audio)
Audio 33 KB