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Current IssueEditorial BoardOnline First ArticlesArchive
Current IssueEditorial BoardOnline First ArticlesArchive

volume 49 issue 1 (february 2015) : 44-47,   Doi: 10.5958/0976-0555.2015.00009.6

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

R
Rong-qing Geng*
L
Lan-ping Wang
1College of Life Science and Technology, Yancheng Teachers University, Yancheng, Jiangsu Province, 224051, P.R.China.
Cite article:- Geng* Rong-qing, Wang Lan-ping (2025). The PCR-SSCP and DNA sequencing methods detecting genetic mutations of EGLN1 gene in different sheep breeds. Indian Journal of Animal Research. 49(1): 44-47. doi: 10.5958/0976-0555.2015.00009.6.

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.

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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Indian Journal of Animal Research
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    volume 49 issue 1 (february 2015) : 44-47,   Doi: 10.5958/0976-0555.2015.00009.6

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

    R
    Rong-qing Geng*
    L
    Lan-ping Wang
    1College of Life Science and Technology, Yancheng Teachers University, Yancheng, Jiangsu Province, 224051, P.R.China.
    Cite article:- Geng* Rong-qing, Wang Lan-ping (2025). The PCR-SSCP and DNA sequencing methods detecting genetic mutations of EGLN1 gene in different sheep breeds. Indian Journal of Animal Research. 49(1): 44-47. doi: 10.5958/0976-0555.2015.00009.6.

    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.

    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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