Journal of Animal Science and Technology

Korean Society of Animal Sciences and Technology (한국축산학회)
권호 표지
DOI QR코드

DOI QR Code

Chromosomal Localization and Mutation Detection of the Porcine APM1 Gene Encoding Adiponectin

Adiponectin을 암호화하는 돼지 APM1 유전자의 염색체상 위치파악과 돌연변이 탐색

  • Park, E.W. (National Livestock Research Institute, RDA) ;
  • Kim, J.H. (Division of Applied Life Science, Gyeongsang National University) ;
  • Seo, B.Y. (Division of Applied Life Science, Gyeongsang National University) ;
  • Jung, K.C. (Division of Animal Science and Resources, Chungnarn National University) ;
  • Yu, S.L. (Division of Animal Science and Resources, Chungnarn National University) ;
  • Cho, I.C. (National Institute of Subtropical Agriculture, RDA) ;
  • Lee, J.G. (Division of Applied Life Science, Gyeongsang National University) ;
  • Oh, S.J. (National Livestock Research Institute, RDA) ;
  • Jeon, J.T. (Division of Applied Life Science, Gyeongsang National University) ;
  • Lee, J.H. (Division of Animal Science and Resources, Chungnarn National University)
  • 박응우 (농촌진흥청 축산연구소) ;
  • 김재환 (경상대학교 응용생명과학부) ;
  • 서보영 (경상대학교 응용생명과학부) ;
  • 정기철 (충남대학교 동물자원학부) ;
  • 유성란 (충남대학교 동물자원학부) ;
  • 조인철 (난지 농업연구소) ;
  • 이정규 (경상대학교 응용생명과학부) ;
  • 오성종 (농촌진흥청 축산연구소) ;
  • 전진태 (경상대학교 응용생명과학부) ;
  • 이준헌 (충남대학교 동물자원학부)
  • Published : 2004.08.31
Download PDF
⟨ Previous Next ⟩

Abstract

Adiponectin is adipocyte complement-related protein which is highly specialized to play important roles in metabolic and honnonal processes. This protein, called GBP-28, AdipoQ, and Acrp30, is encoded by the adipose most abundant gene transcript 1 (APM1) which locates on human chromosome 3q27 and mouse chromosome 16. In order to determine chromosomal localization of the porcine APM1, we carried out PCR analysis using somatic cell hybrid panel as well as porcine whole genome radiation hybrid (RH) panel. The result showed that the porcine APM1 located on chromosome 13q41 or 13q46-49. These locations were further investigated with the two point analysis of RH panel, revealed the most significant linked marker (LOD score 20.29) being SIAT1 (8 cRs away), where the fat-related QTL located. From the SSCP analysis of APM1 using 8 pig breeds, two distinct SSCP types were detected from K~ native and Korean wild pigs. The determined sequences in Korean native and Korean wild pigs showed that two nucleotide positions (T672C and C705G) were substituted. The primary sequence of the porcine APM1 has 79 to 87% identity with those of human, mouse, and bovine APM1. The domain structures of the porcine APM1 such as signal sequence, hypervariable region, collagenous region. and globular domain are also similar to those of mammalian genes.

APM1(adipose most abundant gene transcript 1)은 지방세포에서 분비된는 단백질로서 Adiponectin을 암호화하며 GBP-28, AdipoQ, Acrp30으로 불리워졌다. 이 유전자는 쥐의 16번 염색체 및 인간의 3번 염색체 q27 부위에 존재하며 지방의 대사 및 호르몬의 여러 과정에 중요하게 작용하는 것으로 알려져 왔다. 돼지에서 APM1과 양적형질과의 연관성을 알아보기 위하여 somatic cell hybrid panel과 radiation hybrid panel을 이용하여 염색체상의 위치를 밝혀냈다. 분석결과 이 유전자는 돼지 13번 염색체의 q41이나 q46-49에 존재하는 것으로 밝혀졌다. RH pnael의 분석 결과, 이 APM1과 가장 연관이 된 marker는 SIAT1(LOD score 20.29)로 밝혀졌으며 이미 보고된 지방과 관련된 양적형질 유전자 좌위와 일치하였다. 8개의 다른 품종을 이용한 SSCP 분석으로, 한국재래돼지와 한국야생돼지에서 두 개의 특이한 SSCP 타입이 발견되었으며 sequence 분석결과 두 개의 염기가 치환(T672C and C705G)되어 있음을 알 수 있었다. 이 유전자는 사람, 마우스, 소의 염기서열과 약 79-87%의 상동성을 가지고 있으며 다른 포유동물에서 밝혀진 signal sequence, hypervariable region, collagenous region, globular domain과 유사한 구조로 되어 있음을 알 수 있었다.

Keywords

References

  1. Band, M. R, Larson, H. H., Rebeiz, M., Green, C. A, Heyen, D. W., Donovan, J., Windish, R., Steining, C., Mahyuddin, P., Womack, J. E. and Lewin, H. A. 2000. An ordered comparative map of the cattle and human genomes. Genome Res. 10:1359-68. https://doi.org/10.1101/gr.145900
  2. Barendse, W., Vaiman, D., Kemp, S. J., Sugimoto, Y., Armitage, S. M., Williams, J. L., Sun, H. S., Eggen, A., Agaba, M., Aleyasin, S. A., Band, M., Bishop, M. D., Buitkamp, J., Byrne, K., Collins, F., Cooper, L., Coppettiers, W., Denys, B., Drinkwater, R. D., Easterday, K., Elduque, C., Ennis, S., Erhardt, G., Ferretti, L., Flavin, N., Gao, Q., Georges, M., Gurung, R., Harlizius, B., Hawkins, G., Hetzel, J., Hirano, T., Hulme, D., Jorgensen, C., Kessler, M., Kirkpatrick, B. W., Konfortov, B., Kostia, S., Kuhn, C., Lenstra, J. A., Leveziel, H., Lewin, H. A., Leyhe, B., Lil, L., Martin Burriel, I., McGraw, R. A., Miller, J. R., Moody, D. E., Moore, S. S., Nakane, S., Nijman, I. J., OIsaker, I., Pomp, D., Rando, A., Ron, M., Shalom, A., Teale, A. J., Thieven, U., Urquhart, B. J. D., Vage, D. I., Van de Weghe, A, Varvio, S., Velmala, R, Vilkki, J., Weikard, R, Woodside, C., Womack, J. E., Zanotti, M. and Zaragoza, P. 1997. A medium-density genetic linkage map of the bovine genome. Mamm. Genome 8:21-28.
  3. Chevalet, C., Gouzy, J. and SanChristobal-Gaudy, M. 1997. Regional assignment of genetic markers using a somatic cell hybrid panel: a WWW interactive program available for the pig genome. Comput. Appl. Biosci. 13:69-73.
  4. Das, K., Lin, Y., Widen, E., Zhang, Y. and Scherer, P. E. 2001. Chromosomal localization, expression pattern, and promoter analysis of the mouse gene encoding adipocyte-specific secretory protein Acrp30. Biochem. Biophys. Res. Commun. 257:79-83.
  5. Dayhoff, M. O., Schwart, R. M. and Orcutt, B. C. 1978. A model of evolutionary change in proteins. In: Dayhoff, M. (Ed.), Atlas of Protein Sequence and Structure, vol. 5. National Biomedical Research Foundation, Washington, DC, pp.345-352.
  6. Grisart, B., Coppieters, W., Famir, F., Karim, L., Ford, C., Berzi, P., Cambisano, N., Mni, M., Reid, S., Simon, P., Spelman, R, Georges, M. and Snell, R. 2002. Positional candidate cloning of a QTL in dairy cattle: identification of a missense mutation in the bovine DGATI gene with major effect on milk yield and composition. Genome Res. 12:222-31. https://doi.org/10.1101/gr.224202
  7. Hawken, R. J., Murtaugh, J., Flickinger, G. H., Yerle, M., Robie, A., Milan, D., Gellin, J., Beattie, C. W., Schook, L. B. and Alexander, L. J. 1999. A first-generation porcine whole-genome radiation hybrid map. Mamm. Genome 10:824-30. https://doi.org/10.1007/s003359901097
  8. Hu, E., Liang, P. and Spiegeman, B. M. 1996. AdipoQ is a novel adipose-specific gene dysregulated in obesity. J. BioI. Chem. 271:10697-10703. https://doi.org/10.1074/jbc.271.18.10697
  9. Kappes, S. M., Keele, J. W., Stone, R. T., McGraw, R. A., Sonstegard, T. S., Smith, T. P., Lopez-Corrales, N. L. and Beattie, C. W. 1997. A secondgeneration linkage map of the bovine genome. Genome Res. 7:235-249. https://doi.org/10.1101/gr.7.3.235
  10. Katz, E. B., Burcelin, R., Taso, T. S., Stenbit, A. E. and Charron, M. J. 1996. The metabolic consequences of altered glucose transporter expression in transgenic mice. J. Mol. Med. 74:63-652.
  11. Lange, K., Boehnke, M., Cox, D. R. and Lunetta, K. L. 1995. Statistical methods for polyploid radiation hybrid mapping. Genome Res. 5:136-150. https://doi.org/10.1101/gr.5.2.136
  12. Ma, R. Z., Beever, J. E., Da, Y., Green, C. A., Russ, I., Park, C., Heyen, D. W., Everts, R. E., Fisher, S. R., Overton, K. M., Teale, A. J., Kemp, S. J., Hines, H. C., Guerin, G. and Lewin, H. A. 1996. A male linkage map of the cattle(Bos taurus) genome. J. Hered. 87:261-71. https://doi.org/10.1093/oxfordjournals.jhered.a022999
  13. MacLennan, D. H., Duff, C., Zorzato, F., Fujii, J., Phillips, M., Komeluk, R. G., Frodis, W., Britt, B. A. and Worton, R. G. 1990. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia Nature 343:559-561.
  14. Maeda, K., Okubo, K., Shimomura, I., Funahashi, T., Matsuzawa, Y. and Matsubara, K. 1996. cDNA cloning and expression of a novel adipose specific collagen-like factor, APM1(adipose most abundant gene transcript 1). Biochem. Biophys. Res. Commun. 221:286-289.
  15. Malek, M., Dekkers, J. C., Lee, H. K., Baas, T. J. and Rothschild, M. F. 2001. A molecular genome scan analysis to identify chromosomal regions influencing economic traits in the pig. 1. Growth and body composition. Mamm. Genome 12:630-636. https://doi.org/10.1007/s003350020018
  16. Milan, D., Jeon, J. T., Looft, C., Amarger, V., Robie, A., Thelander, M., Rogel-Gaillard, C., Paul, S., lannuccelli, N., Rask, L., Ronne, H., Lundstrom, K., Reinsch, N., Gellin, J., Kalm,. Roy, P. L., Chardon, P. and Andersson, L. 2000. A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle. Science 288:1248-51.
  17. Nicholas, F. W. and Harper, P. A. 1996. Inherited disorders: the comparative picture. Aust. Vet. J. 73:64-66.
  18. Rohrer, G. A., Alexander, L. J., Hu, Z., Smith, T. P., Keele, J. W. and Beattie, C. W. 1996. A comprehensive map of the porcine genome. Genome Res. 6:371-391. https://doi.org/10.1101/gr.6.5.371
  19. Schaftler, A., Orso, E., Palitzseh, K D., Buchler, C., Drobnik, W., Furst, A., Scholmerich, J. and Schmitz, G. 1999. The human apM-1, an adipocyte-specific gene linked to the family of TNFs and to genes expressed in activated T cells, is mapped to chromosome 1q21.3-q23, a susceptibility locus identified for familial combined hyperlipidaemia(FCH). Biochem. Biophys. Res. Commun. 260:416-425.
  20. Scherer, P. E., Williams, S., Fogliano, M., Baldini, G. and Lodish, H. F. 1995. A novelsennn protein similar to C1q, produced exclusively in adipocytes. J. BioI. Chem. 270:26746-26749. https://doi.org/10.1074/jbc.270.45.26746
  21. Takahashi, M., Arita, Y., Yamagata, K., Okutomi, K., Horie, M., Shimomura, I., Hotta, K., Kuriyama, H., Kihara, S., Nakamura, T., Yamashita, S., Funahashi, T. and Matsuzawa, Y. 2000. Genomic structure and mutations in adipose-specific gene, adiponectin. Int. J. Obes. Metab. Disord. 24:861-868.
  22. Thompson, J. D., Gibson, T. J., Plewniak, F., Jeanmougin, F. and Higgins, D. G. 1997. The ClustaIX windows interface: flexible strangies for multiple sequence alignment aided by quality analysis tools. Nucleic Acids Res. 25:4876-4882.
  23. Tsao, T. S., Stenbit, A. E., Li, J., Houseknecht, K L., Zierath, J. R, Katz, E. B. and Charron, M. J. 1997. Muscle-specific transgenic complementation of GLUT4-deficient mice. Effects on glucose but not lipid metabolism. J. Clin. Invest. 100:671-677. https://doi.org/10.1172/JCI119579
  24. Wiecek, A, Kokot, F., Chudek, J. and Adamczak, M. 2002. Adipose tissue - a novel endocrine organ of interest for the nephrologist. Nephrol. Dail. Transpl. 17:191-195 https://doi.org/10.1093/ndt/17.2.191
  25. Yamauchi, T., Kamon, J., Minokoshi, Y., Ito, Y., Waki, H., Uchida, S., Yamashita, S., Noda, M., Kita, S., Ueki, K' Eto, K., Akanurna, Y., Froguel, P., Foufelle, F., Ferre, P., Carling, D., Nagai, R, Kimura, S., Kahn, B. B. and Kadowaki, T. 2002. Adiponectin stimulates glucose utilization and fattyacid oxidation by activating AMP-activated protein kinase. Nat. Med. 8:1288-1295.
  26. Yamauchi, T., Kamon, J., Waki, H., Terauchi, Y., Kubota, N., Hara, K, Mori, Y., Ide, T., Murakami, K, Tsuboyama-Kasaoka, N., Ezaki, O., Akanurna, Y., Gavrilova, O., Vinson, C., Reitman, M. L., Kagechika, H., Shudo, K, Yoda, M., Nakano, Y., Tobe, K, Nagai, R, Kimura, S., Tomita, M, Froguel, P. and Kadowaki, T. 2001. The fat-derived hormone adiponectin reverses insulin resistance associated with both Iipoatrophy and obesity. Nat. Med. 7:887-888.
  27. Yerle, M., Echard, G., Robie, A., MairaI, A., Dubut-Fontana, C., Riquet, J., Pinton, P., Milan, D., Lahbib-Mansais, Y. and Gellin, J. 1996. A somatic cell hybrid panel for pig regional gene mapping characterized by molecular cytogenetics. Cytogenet. Cell Genet. 73:194-202.
  28. Yerle, M., Pinton, P., Robie, A., Alfonso, A., Palvadeau, Y., Delcros, C., Hawken, R, Alexander, L., Beattie, c., Schook, L., Milan, D. and Gellin, J. 1998. Construction of a whole-genome radiation hybrid panel for high-resolution gene mapping in pigs. Cytogenet. Cell Genet. 82:182-188.
  29. Yoda, M., Nakano, Y., Tobe, T., Shioda, S., Dhoi-Miura, N. H. and Tomita, M. 2001. Characterization of mouse GPB2 and its induction by exposure to cold. Int. J. Obes. Relat. Metab. Disord. 25:75-83.