The PCR-SSCP and DNA sequencing methods detecting genetic mutations of EGLN1 gene in different sheep breeds

DOI: 10.5958/0976-0555.2015.00009.6    | Article Id: B-234 | Page : 44-47
Citation :- The PCR-SSCP and DNA sequencing methods detecting genetic mutations of EGLN1 gene in different sheep breeds.Indian Journal Of Animal Research.2015.(49):44-47
Rong-qing Geng* and Lan-ping Wang rqgeng@hotmail.com
Address : College of Life Science and Technology, Yancheng Teachers University, Yancheng, Jiangsu Province, 224051, P.R.China.

Abstract

In this study, genetic mutations of EGLN1 gene within four exons and intro-exon boundary regions were analyzed using PCR-SSCP and DNA sequencing methods representing different sheep breeds of high-altitude and low-altitude types. Only two SNPs located in intron 4 were detected among the screened regions and no species-specific SNP was found. The EGLN1 SNPs were found to be significantly different between the high-altitude and low-altitude sheep breeds revealing that genetic variations of EGLN1 gene may be related to high altitude adaption.

Keywords

EGLN1 Genetic mutation PCR-SSCP Sheep.

References

  1. Aggarwal, S., Negi, S., Jha, P., Singh, P.K., Stobdan, T., Pasha, M.A., Ghosh, S., Agrawal, A., Prasher, B. and Mukerji, M. (2010). EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda. Proc Natl Acad Sci USA 107(44):18961-18966.
  2. Albiero, E., Ruggeri, M., Fortuna, S., Bernardi, M., Finotto, S., Madeo, D. and Rodeghiero, F. (2011). Analysis of the oxygen sensing pathway genes in familial chronic myeloproliferative neoplasms and identification of a novel EGLN1 germ-line mutation. Br J Haematol 153(3):405-408.
  3. Bigham, A.W., Wilson, M.J., Julian, C.G., Kiyamu, M., Vargas, E., Leon-Velarde, F., Rivera-Chira, M., Rodriquez, C., Browne, V.A., Parra, E., Brutsaert, T.D., Moore, L.G. and Shriver, M.D. (2013). Andean and Tibetan patterns of adaptation to high altitude. Am J Hum Biol 25(2):190-197.
  4. Buroker, N.E., Ning, X.H., Zhou, Z.N., Li, K., Cen, W.J., Wu, X.F., Zhu, W.Z., Scott, C.R. and Chen, S.H. (2012). EPAS1 and EGLN1 associations with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau. Blood Cells Mol Dis 49(2):67-73.
  5. Hirota, K. and Semenza, G.L. (2006). Regulation of angiogenesis by hypoxia-inducible factor 1. Crit Rev Oncol Hematol 59(1):15-26.
  6. Li, Q., Liu, S.Y., Lin, K.Q., Sun, H., Yu, L., Huang, X.Q., Chu, J.Y. and Yang, Z.Q. (2013). Association between six single nucleotide polymorphisms of EGLN1 gene and adaptation to high-altitude hypoxia. Yi Chuan 35(8):992-998.
  7. Peng, Y., Yang, Z., Zhang, H., Cui, C., Qi, X., Luo, X., Tao, X., Wu, T., Ouzhuluobu., Basang., Ciwangsangbu., Danzengduojie., Chen, H., Shi, H. and Su, B. (2011). Genetic variations in Tibetan populations and high-altitude adaptation at the Himalayas. Mol Biol Evol 28(2):1075-1081.
  8. Scheinfeldt, L.B., Soi, S., Thompson, S., Ranciaro, A., Woldemeskel, D., Beggs, W., Lambert, C., Jarvis, J.P., Abate, D., Belay, G. and Tishkoff, S.A. (2012). Genetic adaptation to high altitude in the Ethiopian highlands. Genome Biol 13(1):R1.
  9. Simonson, T.S., Yang, Y., Huff, C.D., Yun, H., Qin, G., Witherspoon, D.J., Bai, Z., Lorenzo, F.R., Xing, J., Jorde, L.B., Prchal, J.T. and Ge, R. (2010). Genetic evidence for high-altitude adaptation in Tibet. Science 329(5987):72-75.
  10. Xiang, K., Ouzhuluobu., Peng, Y., Yang, Z., Zhang, X., Cui, C., Zhang, H., Li, M., Zhang, Y., Bianba., Gonggalanzi., Basang., Ciwangsangbu., Wu, T., Chen, H., Shi, H., Qi, X. and Su, B. (2013). Identification of a Tibetan-specific mutation in the hypoxic gene EGLN1 and its contribution to high-altitude adaptation. Mol Biol Evol 30(8):1889-    1898.
  11. Xu, S., Li, S., Yang, Y., Tan, J., Lou, H., Jin, W., Yang, L., Pan, X., Wang, J., Shen, Y., Wu, B., Wang, H. and Jin, L. (2011). A genome-wide search for signals of high-altitude adaptation in Tibetans. Mol Biol Evol 28(2):1003-1011.

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