Molecular Biology Reports

, Volume 40, Issue 11, pp 6419–6427 | Cite as

Analysis of the associations between polymorphisms in GNAS complex locus and growth, carcass and meat quality traits in pigs

  • Maria Oczkowicz
  • Katarzyna Ropka-Molik
  • Mirosław Tyra


Imprinted genes are interesting candidates for marker assisted selection in farm animals. One of them—GNAS complex locus is engaged in obesity pathogenesis in humans and mice. In our study, we identified new polymorphism in porcine GNAS gene (variable number of CT repeats, accession number: rs196952953) and found that this polymorphism is in linkage disequilibrum with GNAS AM490165:g.324C>T. Statistical analysis (GLM procedure), performed on 552 animals (Large White n = 258 and Landrace n = 269), revealed that deduced haplotypes and GNAS AM490165:g.324C>T are associated with growth performance and a few carcass traits, but not with feed intake. We observed significant additive effects of GNAS AM490165:g.324C>T genotype and haplotype 2 (C/278 bp) on test daily gain (TDG), average daily gain (ADG), number of days on test, age of the slaughter (P < 0.01) and FCR ratio (P < 0.05). Animals with two copies of C/278 haplotype had significantly higher: TDG, ADG, lower feed:gain ratio and faster reached the weight of 100 kg. When carcass traits were considered, significant associations between GNAS AM490165:g.324C>T polymorphism, haplotype 2 (C/278) and weight of ham with and without backfat and skin (WH) (WH2), length of the carcass, height and the width of the loin, meat percentage, weight of the main cuts were identified. The significant dominance effects of GNAS AM490165:g.324C>T polymorphism and haplotype 2 on WH and WH2 were observed (P < 0.05). When the two breeds were analyzed separately significant associations were observed for most of the traits in Landrace while in Large White the same trends were present but the differences were mostly not significant. Among meat quality traits we found significant association between haplotype and IMF content in Landrace (P < 0.03). Our results show for the first time that GNAS complex locus may modulate economically important traits in pigs.


GNAS Imprinting Haplotypes Pigs IMF Meat quality Growth Carcass traits 



This work was supported by Ministry of Science and Higher Education, grant No N N311 608638 and National Research Institute of Animal Production, statutory activity No 01-4.03.1.

Supplementary material

11033_2013_2756_MOESM1_ESM.tif (36 kb)
Supplementary Fig. 1 Chromatogram demonstrating STR variants in rs196952953. A- 262/262, B- 278/278, C- 262/278 (TIFF 37 kb)


  1. 1.
    Hayward BE, Moran V, Strain L, Bonthron DT (1998) Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci USA 95:15475–15480PubMedCrossRefGoogle Scholar
  2. 2.
    Kelsey G, Bodle D, Miller HJ, Beechey CV, Coombes C, Peters J, Williamson CM (1999) Identification of imprinted loci by methylation-sensitive representational difference analysis: application to mouse distal chromosome 2. Genomics 62:129–138PubMedCrossRefGoogle Scholar
  3. 3.
    Khatib H (2004) Imprinting of Nesp55 gene in cattle. Mamm Genome 15:663–667PubMedCrossRefGoogle Scholar
  4. 4.
    Oczkowicz M, Piestrzyńska-Kajtoch A, Ropka-Molik K, Rejduch B, Eckert R (2012) Expression and imprinting analysis of the NESP55 gene in pigs. Gene Expr Patterns 12:18–23PubMedCrossRefGoogle Scholar
  5. 5.
    Peters J, Wroe SF, Wells CA, Miller HJ, Bodle D, Beechey CV, Williamson CM, Kelsey G (1999) A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2. Proc Natl Acad Sci USA 96:3830–3835PubMedCrossRefGoogle Scholar
  6. 6.
    Sikora KM, Magee DA, Berkowicz EW, Berry DP, Howard DJ, Mullen MP, Evans RD, Machugh DE, Spillane C (2011) DNA sequence polymorphisms within the bovine guanine nucleotide-binding protein Gs subunit alpha (Gsα)-encoding (GNAS) genomic imprinting domain are associated with performance traits. BMC Genet 12:4PubMedCrossRefGoogle Scholar
  7. 7.
    Plagge A, Isles AR, Gordon E, Humby T, Dean W, Gritsch S, Fischer-Colbrie R, Wilkinson LS, Kelsey G (2005) Imprinted Nesp55 influences behavioral reactivity to novel environments. Mol Cell Biol 25:3019–3026PubMedCrossRefGoogle Scholar
  8. 8.
    Bastepe M (2007) The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted Transcripts. Curr Genomics 8:398–414PubMedCrossRefGoogle Scholar
  9. 9.
    Plagge A, Kelsey G, Germain-Lee EL (2008) Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse. J Endocrinol 196:193–214 ReviewPubMedCrossRefGoogle Scholar
  10. 10.
    McCune D (1936) Osteitis fibrosa cystica; the case of a nine-year old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism. Am J Dis Child 52:743–744Google Scholar
  11. 11.
    Albright F, Burnett CH, Smith PH, Parson W (1942) Pseudohypoparathyroidism—an example of “Seabright-Bantam syndrome”. Endocrinology 30:922–932Google Scholar
  12. 12.
    Bastepe M, Jüppner H (2005) GNAS locus and pseudohypoparathyroidism. Horm Res 63:65–74PubMedCrossRefGoogle Scholar
  13. 13.
    Krechowec SO, Burton KL, Newlaczyl AU, Nunn N, Vlatković N et al (2012) Postnatal changes in the expression pattern of the imprinted signalling protein XLαs underlie the changing phenotype of deficient mice. PLoS ONE 7(1):e29753. doi: 10.1371/journal.pone.0029753 PubMedCrossRefGoogle Scholar
  14. 14.
    de Koning DJ, Rattink AP, Harlizius B, van Arendonk JA, Brascamp EW, Groenen MA (2000) Genome-wide scan for body composition in pigs reveals important role of imprinting. Proc Natl Acad Sci USA 97:7947–7950PubMedCrossRefGoogle Scholar
  15. 15.
    Boysen TJ, Tetens J, Thaller G (2010) Detection of a quantitative trait locus for ham weight with polar overdominance near the ortholog of the callipyge locus in an experimental pig F2 population. J Anim Sci 88:3167–3172PubMedCrossRefGoogle Scholar
  16. 16.
    Stratil A, Knoll A, Horák P, Bílek K, Bechynová R, Bartenschlager H, Van Poucke M, Peelman LJ, Svobodová K, Geldermann H (2008) Mapping of the porcine FBN2, YWHAQ, CNN3, DCN, POSTN, SPARC, RBM39 and GNAS genes, expressed in foetal skeletal muscles. Anim Genet 39:204–205PubMedCrossRefGoogle Scholar
  17. 17.
    Fan B, Glenn KL, Geiger B, Mileham A, Rothschild MF (2008) Investigation of QTL regions on Chromosome 17 for genes associated with meat color in the pig. J Anim Breed Genet 125:240–247PubMedCrossRefGoogle Scholar
  18. 18.
    Thomsen H, Lee HK, Rothschild MF, Malek M, Dekkers JC (2004) Characterization of quantitative trait loci for growth and meat quality in a cross between commercial breeds of swine. J Anim Sci 82:2213–2228PubMedGoogle Scholar
  19. 19.
    Ramos AM, Bastiaansen JW, Plastow GS, Rothschild MF (2009) Genes located on a SSC17 meat quality QTL region are associated with growth in outbred pig populations. Anim Genet 40:774–778PubMedCrossRefGoogle Scholar
  20. 20.
    Grau R, Hamm R (1953) Eine einfache Methode zur Bestimmung der Wasserbindung im Muskel. Naturwiss. 40:29–30CrossRefGoogle Scholar
  21. 21.
    Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21(2):263–265. doi: 10.1093/bioinformatics/BFT457 PubMedCrossRefGoogle Scholar
  22. 22.
    Excoffier L, Laval G, Schneider S (2005) Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evol. Bioinform Online 1:47–50Google Scholar
  23. 23.
    SAS. Version 9.1 SI, Inc., Cary, NC (2002–2003)Google Scholar
  24. 24.
    Eaton SA, Williamson CM, Ball ST, Beechey CV, Moir L, Edwards J, Teboul L, Maconochie M, Peters J (2012) New mutations at the imprinted Gnas cluster show gene dosage effects of Gsα in postnatal growth and implicate XLαs in bone and fat metabolism but not in suckling. Mol Cell Biol 32:1017–1029PubMedCrossRefGoogle Scholar
  25. 25.
    Cole JB, Wiggans GR, Ma L, Sonstegard TS, Lawlor TJ Jr, Crooker BA, Van Tassell CP, Yang J, Wang S, Matukumalli LK, Da Y (2011) Genome-wide association analysis of thirty one production, health, reproduction and body conformation traits in contemporary U.S. Holstein cows. BMC Genomics. 12:408CrossRefGoogle Scholar
  26. 26.
    Yu S, Gavrilova O, Chen H, Lee R, Liu J, Pacak K, Parlow AF, Quon MJ, Reitman ML, Weinstein LS (2000) Paternal versus maternal transmission of a stimulatory G-protein alpha subunit knockout produces opposite effects on energy metabolism. J Clin Invest. 105:615–623PubMedCrossRefGoogle Scholar
  27. 27.
    Yu S, Castle A, Chen M, Lee R, Takeda K, Weinstein LS (2001) Increased insulin sensitivity in Gsalpha knockout mice. J Biol Chem 276:19994–19998PubMedCrossRefGoogle Scholar
  28. 28.
    Weinstein LS, Xie T, Qasem A, Wang J, Chen M (2010) The role of GNAS and other imprinted genes in the development of obesity. Int J Obes (Lond) 34:6–17CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  • Maria Oczkowicz
    • 1
  • Katarzyna Ropka-Molik
    • 1
  • Mirosław Tyra
    • 2
  1. 1.Laboratory of GenomicsNational Research Institute of Animal ProductionBalicePoland
  2. 2.Department of Animal Breeding and GeneticsNational Research Institute of Animal ProductionBalicePoland

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