Molecular Biology Reports

, Volume 38, Issue 2, pp 921–927 | Cite as

Molecular characterization and association analysis of porcine adipose triglyceride lipase (PNPLA2) gene

  • Li He Dai
  • Yuan Zhu Xiong
  • Si Wen Jiang
  • Jun Feng Chen


The adipose triglyceride lipase (PNPLA2, also known as ATGL) is a novel triacylglycerol (TG) lipase which specifically removes the first fatty acid from the triglyceride molecule generating free fatty acid and diglyceride (DG) in mammalian cells. Here we describe the molecular characterization of the porcine ATGL gene. The full-length cDNA sequence contains a 1,461 bp open reading frame encoding a protein of 486 amino acids with a calculated molecular mass of 53.2 kDa and an isoelectric point of 7.90. The porcine ATGL protein shares high identity with other mammalian ATGL. The ATGL gene contains 9 coding exons, spans approximately 6 kb. The porcine ATGL mRNA was expressed predominantly in backfat, mildly in muscle, small intestine and heart, and almost absent in liver, spleen, lung, stomach, kidney and ovary. Statistical analysis showed the ATGL gene polymorphism (G/A392) was different between Chinese indigenous and introduced commercial western pig breeds, and was highly associated with almost all the fat deposition and carcass traits, including subcutaneous fat thickness, viscera adipose tissue, lean percentage, loin eye traits and even rib numbers.


ATGL Pig Characterization Real-time PCR Genomic walking Association analysis 



This work was supported by the grants from the National Key Foundation Research and Development Program of China Grant (2006CB102102) and Natural Science Foundation of Hubei Province (2006ABC008).

Supplementary material

11033_2010_185_MOESM1_ESM.doc (44 kb)
Supplementary material 1 (DOC 44 kb)
11033_2010_185_MOESM2_ESM.doc (140 kb)
Supplementary material 2 (DOC 139 kb)


  1. 1.
    Haemmerle G, Zimmermann R, Hayn M, Theussl C, Waeg G, Wagner E, Sattler W et al (2002) Hormone-sensitive lipase deficiency in mice causes diglyceride accumulation in adipose tissue, muscle, and testis. J Biol Chem 277(7):4806–4815CrossRefPubMedGoogle Scholar
  2. 2.
    Zimmermann R, Strauss JG, Haemmerle G, Schoiswohl G, Birner-Gruenberger R, Riederer M, Lass A et al (2004) Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase. Science 306:1383–1386CrossRefPubMedGoogle Scholar
  3. 3.
    Jenkins CM, Mancuso DJ, Yan W, Sims HF, Gibson B, Gross RW (2004) Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities. J Biol Chem 279:48968–48975CrossRefPubMedGoogle Scholar
  4. 4.
    Villena JA, Roy S, Sarkadi-Nagy E, Kim KH, Sul HS (2004) Desnutrin, an adipocyte gene encoding a novel patatin domain containing protein, is induced by fasting and glucocorticoids: ectopic expression of desnutrin increases triglyceride hydrolysis. J Biol Chem 279:47066–47075CrossRefPubMedGoogle Scholar
  5. 5.
    Notari L, Baladron V, Aroca-Aguilar JD, Balko N, Heredia R, Meyer C, Notario PM et al (2006) Identification of a lipase-linked cell membrane receptor for pigment epithelium-derived factor. J Biol Chem 281(49):38022–38037CrossRefPubMedGoogle Scholar
  6. 6.
    Smirnova E, Goldberg EB, Makarova KS, Lin L, Brown WJ, Jackson CL (2006) ATGL has a key role in lipid droplet/adiposome degradation in mammalian cells. EMBO Rep 7(1):106–113CrossRefPubMedGoogle Scholar
  7. 7.
    Chen JF, Dai LH, Xu NY, Xiong YZ, Jiang SW (2006) Assignment of the patatin-like phospholipase domain containing 2 gene (PNPLA2) to porcine chromosome 2p17 with radiation hybrids. Cytogenet Genome Res 112(3–4):342G-U11Google Scholar
  8. 8.
    Pang WJ, Yu TY, Bai L, Yang YJ, Yang GS (2009) Tissue expression of porcine FoxO1 and its negative regulation during primary preadipocyte differentiation. Mol Biol Rep 36:165–176CrossRefPubMedGoogle Scholar
  9. 9.
    He X, Gao H, Liu C, Fan B, Liu B (2010) Cloning, chromosomal localization, expression profile and association analysis of the porcine WNT10B gene with backfat thickness. Mol Biol Rep. doi: 10.1007/s11033-010-9978-4
  10. 10.
    Fang Q, Yin J, Li F, Zhang J, Watford M (2009) Characterization of methionine adenosyl transferase 2 beta gene expression in skeletal muscle and subcutaneous adipose tissue from obese and lean pigs. Mol Biol Rep. doi: 10.1007/s11033-009-9767-0
  11. 11.
    Qiao M, Wu HY, Li FE, Jiang SW, Xiong YZ, Deng CY (2009) Molecular characterization, expression profile and association analysis with carcass traits of porcine LCAT gene. Mol Biol Rep. doi: 10.1007/s11033-009-9709-x
  12. 12.
    Pan G, Fu Y, Zuo B, Ren Z, Xu D, Lei M, Zheng R, Xiong YZ (2010) Molecular characterization, expression profile and association analysis with fat deposition traits of the porcine APOM gene. Mol Biol Rep 37:1363–1371CrossRefPubMedGoogle Scholar
  13. 13.
    He X, Xu X, Liu B (2009) Molecular characterization, chromosomal localization and association analysis with back-fat thickness of porcine LPIN2 and LPIN3. Mol Biol Rep 36:1819–1824CrossRefPubMedGoogle Scholar
  14. 14.
    Xiong YZ, Deng CY (1999) Principle and method of swine testing. Chinese Agriculture Press, BeijingGoogle Scholar
  15. 15.
    Hofmann K, Bucher P, Falquet L, Bairoch A (1999) The PROSITE database, its status in 1999. Nucleic Acids Res 27:215–219CrossRefPubMedGoogle Scholar
  16. 16.
    von Heijne G (1992) Membrane protein structure prediction: hydrophobicity analysis and the ‘Positive Inside’ rule. J Mol Biol 225:487–494CrossRefGoogle Scholar
  17. 17.
    Hofmann K, Stoffel W (1993) TMbase—a database of membrane spanning protein segments. Biol Chem Hoppe-Seyler 374:166Google Scholar
  18. 18.
    Breathnach R, Benoist C, O’Hare K, Gannon F, Chambon P (1978) Ovalbumin gene: evidence for a leader sequence in mRNA and DNA sequences at the exon–intron boundaries. Proc Natl Acad Sci USA 10:4853–4857CrossRefGoogle Scholar
  19. 19.
    Shan T, Wang Y, Wu T, Guo J, Liu J, Feng J, Xu Z (2008) Porcine adipose triglyceride lipase complementary deoxyribonucleic acid clone, expression pattern, and regulation by resveratrol. J Anim Sci 86:1781–1788CrossRefPubMedGoogle Scholar
  20. 20.
    Kershaw EE, Hamm JK, Verhagen LA, Peroni O, Katic M, Flier JS (2006) Adipose triglyceride lipase function, regulation by insulin, and comparison with adiponutrin. Diabetes 55:148–157CrossRefPubMedGoogle Scholar
  21. 21.
    Hirschberg HJ, Simons JW, Dekker N, Egmond MR (2001) Cloning, expression, purification and characterization of patatin, a novel phospholipase A. Eur J Biochem 268:5037–5044CrossRefPubMedGoogle Scholar
  22. 22.
    Leszczynski JF, Rose GD (1986) Loops in globular proteins: a novel category of secondary structure. Science 234:849CrossRefPubMedGoogle Scholar
  23. 23.
    Mermod N, O’Neill EA, Kelly TJ, Tjian R (1989) The proline-rich transcriptional activator of CTF/NF-I is distinct from the replication and DNA binding domain. Cell 58(4):741–753CrossRefPubMedGoogle Scholar
  24. 24.
    Banerji S, Flieger A (2004) Patatin-like proteins: a new family of lipolytic enzymes present in bacteria? Microbiology 150(3):522–525CrossRefPubMedGoogle Scholar
  25. 25.
    Schoenborn V, Heid IM, Vollmert C, Lingenhel A, Adams TD, Hopkins PN, Illig T et al (2006) The ATGL gene is associated with free fatty acids, triglycerides, and type 2 diabetes. Diabetes 55:1270–1275CrossRefPubMedGoogle Scholar
  26. 26.
    Fischer J, Lefevre C, Morava E, Mussini JM, Laforet P, Negre-Salvayre A, Lathrop M et al (2007) The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet 39:28–30CrossRefPubMedGoogle Scholar
  27. 27.
    Mairal A, Langin D, Arner P, Hoffstedt J (2006) Human adipose triglyceride lipase (PNPLA2) is not regulated by obesity and exhibits low in vitro triglyceride hydrolase activity. Diabetologia 49(7):1629–1636CrossRefPubMedGoogle Scholar
  28. 28.
    Rydén M, Jocken J, van Harmelen V, Dicker A, Hoffstedt J, Wirén M, Blomqvist L et al (2007) Am J Physiol Endocrinol Metab 292(6):E1847–E1855CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media B.V. 2010

Authors and Affiliations

  • Li He Dai
    • 1
    • 2
  • Yuan Zhu Xiong
    • 1
  • Si Wen Jiang
    • 1
  • Jun Feng Chen
    • 3
  1. 1.Key Laboratory of Swine Genetics and Breeding, Ministry of Agriculture, Key Lab of Agriculture Animal Genetics, Breeding and Reproduction of Ministry of Education, College of Animal SciencesHuazhong Agricultural UniversityWuhanPeople’s Republic of China
  2. 2.The Institute of Animal Husbandry and Veterinary ScienceZhejiang Academy of Agricultural SciencesHangzhouPeople’s Republic of China
  3. 3.Institute of Animal Husbandry and Veterinary ScienceHenan Academy of Agricultural SciencesZhengzhouPeople’s Republic of China

Personalised recommendations