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The porcine TBC1D1 gene: mapping, SNP identification, and association study with meat, carcass and production traits in Italian heavy pigs

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Abstract

TBC1D1 [TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1] is a Rab-GTPase-activating related protein implicated in regulating the trafficking of glucose transporter 4 (GLUT4 or SLC2A4) storage vesicles to the cell surface in response to insulin and AMPK-activating stimuli in skeletal muscle. Mutations in the human and mouse TBC1D1 genes confer risk of obesity or leanness. We identified five single nucleotide polymorphisms (SNPs) in the porcine TBC1D1 gene. One of them (FN677935:g.219G>A) was genotyped either by high resolution melting and PCR-RFLP analyses to study allele frequencies in a few pig breeds and evaluate association with meat production and carcass traits in five groups of sib-tested pigs of Italian Large White and Italian Duroc breeds. The g.219G>A SNP was associated (P < 0.05) with ham weight, back fat thickness and lean cuts content in Italian Large White and with visible intermuscular fat in Italian Duroc pigs.

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References

  1. Kim KS, Larsen N, Short T, Plastow G, Rothschild MF (2000) A missense variant of the porcine melanocortin-4 receptor (MC4R) gene is associated with fatness, growth, and feed intake traits. Mamm Genome 11:131–135

    Article  CAS  PubMed  Google Scholar 

  2. Fontanesi L, Scotti E, Buttazzoni L, Davoli R, Russo V (2009) The porcine fat mass and obesity associated (FTO) gene is associated with fat deposition in Italian Duroc pigs. Anim Genet 40:90–93

    Article  CAS  PubMed  Google Scholar 

  3. Fontanesi L, Scotti E, Buttazzoni L, Dall’Olio S, Bagnato A, Lo Fiego DP, Davoli R, Russo V (2010) Confirmed association between a single nucleotide polymorphism in the FTO gene and obesity-related traits in heavy pigs. Mol Biol Rep 37:461–466

    Article  CAS  PubMed  Google Scholar 

  4. Stone S, Abkevich V, Russell DL, Riley R, Timms K, Tran T, Trem D, Frank D, Jammulapati S, Neff CD, Iliev D, Gress R, He G, Frech GC, Adams TD, Skolnick MH, Lanchbury JS, Gutin A, Hunt SC, Shattuck D (2006) TBC1D1 is a candidate for a severe obesity gene and evidence for a gene/gene interaction in obesity predisposition. Hum Mol Genet 15:2709–2720

    Article  CAS  PubMed  Google Scholar 

  5. Meyre D, Farge M, Lecoeur C, Proenca C, Durand E, Allegaert F, Tichet J, Marre M, Balkau B, Weill J, Delplanque J, Froguel P (2008) R125W coding variant in TBC1D1 confers risk for familial obesity and contributes to linkage on chromosome 4p14 in the French population. Hum Mol Genet 17:1798–1802

    Article  CAS  PubMed  Google Scholar 

  6. Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, Novartis Institutes of BioMedical Research, Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, Roix JJ, Kathiresan S, Hirschhorn JN, Daly MJ, Hughes TE, Groop L, Altshuler D, Almgren P, Florez JC, Meyer J, Ardlie K, Bengtsson Boström K, Isomaa B, Lettre G, Lindblad U, Lyon HN, Melander O, Newton-Cheh C, Nilsson P, Orho-Melander M, Råstam L, Speliotes EK, Taskinen MR, Tuomi T, Guiducci C, Berglund A, Carlson J, Gianniny L, Hackett R, Hall L, Holmkvist J, Laurila E, Sjögren M, Sterner M, Surti A, Svensson M, Svensson M, Tewhey R, Blumenstiel B, Parkin M, Defelice M, Barry R, Brodeur W, Camarata J, Chia N, Fava M, Gibbons J, Handsaker B, Healy C, Nguyen K, Gates C, Sougnez C, Gage D, Nizzari M, Gabriel SB, Chirn GW, Ma Q, Parikh H, Richardson D, Ricke D, Purcell S (2007) Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316:1331–1336

    Article  CAS  PubMed  Google Scholar 

  7. Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JR, Rayner NW, Freathy RM, Barrett JC, Shields B, Morris AP, Ellard S, Groves CJ, Harries LW, Marchini JL, Owen KR, Knight B, Cardon LR, Walker M, Hitman GA, Morris AD, Doney AS, Wellcome Trust Case Control Consortium (WTCCC), McCarthy MI, Hattersley AT (2007) Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 316:1336–1341

    Article  CAS  PubMed  Google Scholar 

  8. Chadt A, Leicht K, Deshmukh A, Jiang LQ, Scherneck S, Bernhardt U, Dreja T, Vogel H, Schmolz K, Kluge R, Zierath JR, Hultschig C, Hoeben RC, Schürmann A, Joost HG, Al-Hasani H (2008) Tbc1d1 mutation in lean mouse strain confers leanness and protects from diet-induced obesity. Nat Genet 40:1354–1359

    Article  CAS  PubMed  Google Scholar 

  9. Roach WG, Chavez JA, Mîinea CP, Lienhard GE (2007) Substrate specificity and effect on GLUT4 translocation of the Rab GTPase-activating protein Tbc1d1. Biochem J 403:353–358

    Article  CAS  PubMed  Google Scholar 

  10. Chen S, Murphy J, Toth R, Campbell DG, Morrice NA, Mackintosh C (2008) Complementary regulation of TBC1D1 and AS160 by growth factors, insulin and AMPK activators. Biochem J 409:449–459

    Article  CAS  PubMed  Google Scholar 

  11. Zaid H, Antonescu CN, Randhawa VK, Klip A (2008) Insulin action on glucose transporters through molecular switches, tracks and tethers. Biochem J 413:201–215

    Article  CAS  PubMed  Google Scholar 

  12. Vossen RH, Aten E, Roos A, den Dunnen JT (2009) High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum Mutat 30:860–866

    Article  CAS  PubMed  Google Scholar 

  13. Fontanesi L, Davoli R, Nanni Costa L, Beretti F, Scotti E, Tazzoli M, Tassone F, Colombo M, Buttazzoni L, Russo V (2008) Investigation of candidate genes for glycolytic potential of porcine skeletal muscle: association with meat quality and production traits in Italian Large White pigs. Meat Sci 80:780–787

    Article  CAS  Google Scholar 

  14. Yerle M, Pinton P, Robic A, Alfonso A, Palvadeau Y, Delcros C, Hawken R, Alexander L, Beattie C, Schook L, Milan D, Gellin J (1998) Construction of a whole-genome radiation hybrid panel for high-resolution gene mapping in pigs. Cytogenet Cell Genet 82:182–188

    Article  CAS  PubMed  Google Scholar 

  15. Milan D, Hawken R, Cabau C, Leroux S, Genet C, Lahbib Y, Tosser G, Robic A, Hatey F, Alexander L, Beattie C, Schook L, Yerle M, Gellin J (2000) IMpRH server: an RH mapping server available on the web. Bioinformatics 16:558–559

    Article  CAS  PubMed  Google Scholar 

  16. Fontanesi L, Scotti E, Buttazzoni L, Dall’Olio S, Davoli R, Russo V (2010) The porcine cathepsin K (CTSK) gene is associated with back fat thickness and production traits in Italian Duroc pigs. Mol Biol Rep 37:491–495

    Article  CAS  PubMed  Google Scholar 

  17. Russo V, Fontanesi L, Scotti E, Beretti F, Davoli R, Nanni Costa L, Virgili R, Buttazzoni L (2008) Single nucleotide polymorphisms in several porcine cathepsin genes are associated with growth, carcass, and production traits in Italian Large White pigs. J Anim Sci 86:3300–3314

    Article  CAS  PubMed  Google Scholar 

  18. Hawken RJ, Murtaugh J, Flickinger GH, Yerle M, Robic A, Milan D, Gellin J, Beattie CW, Schook LB, Alexander LJ (1999) A first-generation porcine whole-genome radiation hybrid map. Mamm Genome 10:824–830

    Article  CAS  PubMed  Google Scholar 

  19. Brockmann GA, Tsaih SW, Neuschl C, Churchill GA, Li R (2009) Genetic factors contributing to obesity and body weight can act through mechanisms affecting muscle weight, fat weight, or both. Physiol Genomics 36:114–126

    CAS  PubMed  Google Scholar 

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Acknowledgments

We thank Dr. M. Yerle (INRA) for providing the INRA-Minnesota 7000 rads RH panel and ANAS for providing samples and data. This work was supported by University of Bologna (FAGenomicH project) and MiPAAF (Selmol project) funds.

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Authors and Affiliations

  1. DIPROVAL, Sezione di Allevamenti Zootecnici, Faculty of Agriculture, University of Bologna, Via F.lli Rosselli 107, 42100, Reggio Emilia, Italy

    Luca Fontanesi, Michela Colombo, Lucia Tognazzi, Emilio Scotti, Stefania Dall’Olio, Roberta Davoli & Vincenzo Russo

  2. Associazione Nazionale Allevatori Suini (ANAS), Via Lazzaro Spallanzani 4/6, 00161, Rome, Italy

    Luca Buttazzoni

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  1. Luca Fontanesi
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  2. Michela Colombo
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  3. Lucia Tognazzi
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  4. Emilio Scotti
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  5. Luca Buttazzoni
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  6. Stefania Dall’Olio
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  7. Roberta Davoli
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  8. Vincenzo Russo
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Correspondence to Luca Fontanesi.

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Luca Fontanesi and Michela Colombo contributed equally to this work.

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Fontanesi, L., Colombo, M., Tognazzi, L. et al. The porcine TBC1D1 gene: mapping, SNP identification, and association study with meat, carcass and production traits in Italian heavy pigs. Mol Biol Rep 38, 1425–1431 (2011). https://doi.org/10.1007/s11033-010-0247-3

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  • DOI: https://doi.org/10.1007/s11033-010-0247-3

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