Two functional loci in the promoter of EPAS1 gene involved in high-altitude adaptation of Tibetans

Scientific Reports

Volumn 4, Issue , 2014, Pages

  Xu, Xiang Hong ^a   Huang, Xue Wen ^b,c   Qun, Li ^d   Li, Ya Nan ^a   Wang, Yi ^a   Liu, Chao ^a   Ma, Yanyun ^a   Liu, Qing Mei ^a   Sun, Kang ^a,e   Qian, Feng ^a   Jin, Li ^a   Wang, Jiucun ^a  

^a FUDAN UNIVERSITY   (China)

^b Clinical Laboratory of Huadong Sanatorium   (China)

^c Shigatse Meteorological Bureau   (China)

^d Department of Pediatrics   (China)

^e SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; ENDOTHELIAL PAS DOMAIN-CONTAINING PROTEIN 1; IKAROS TRANSCRIPTION FACTOR; IKZF1 PROTEIN, HUMAN; MESSENGER RNA; PROTEIN LYSINE 6 OXIDASE;

ADAPTATION; ALTITUDE; AMNION; BIRTH WEIGHT; CHINA; CHROMATIN IMMUNOPRECIPITATION; CYTOLOGY; FEMALE; FETUS BLOOD; GENETIC SELECTION; GENETICS; GENOTYPE; HEK293 CELL LINE; HUMAN; METABOLISM; NEWBORN; PROMOTER REGION; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADAPTATION, PHYSIOLOGICAL; ALTITUDE; AMNION; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; BIRTH WEIGHT; CHROMATIN IMMUNOPRECIPITATION; FEMALE; FETAL BLOOD; GENOTYPE; HEK293 CELLS; HUMANS; IKAROS TRANSCRIPTION FACTOR; INFANT, NEWBORN; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; PROTEIN-LYSINE 6-OXIDASE; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SELECTION, GENETIC; TIBET;

EID: 84948446756     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep07465     Document Type: Article

References (50)

1. Patel, J., Landers, K., Mortimer, R. H. & Richard, K. Regulation of hypoxia inducible factors (HIF) in hypoxia and normoxia during placental development. Placenta 31, 951-957 (2010).
2. Bedo, G., Vargas, M., Ferreiro, M. J., Chalar, C. & Agrati, D. Characterization of hypoxia induced gene 1: expression during rat central nervous system maturation and evidence of antisense RNA expression. Int J Dev Biol 49, 431-436 (2005).
3. Criscimanna, A. et al. PanIN-Specific Regulation of Wnt Signaling by HIF2alpha during Early Pancreatic Tumorigenesis. Cancer Res 73, 4781-4790 (2013).
4. Giaccia, A. J., Simon, M. C. & Johnson, R. The biology of hypoxia: the role of oxygen sensing in development, normal function, and disease. Genes Dev 18, 2183-2194 (2004).
5. Semenza, G. L.HIF-1 and mechanisms of hypoxia sensing. Curr Opin Cell Biol 13, 167-171 (2001).
6. Schofield, C. J. & Ratcliffe, P. J. Oxygen sensing by HIF hydroxylases. Nat Rev Mol Cell Biol 5, 343-354 (2004).
7. Majmundar, A. J., Wong, W. J. & Simon, M. C. Hypoxia-inducible factors and the response to hypoxic stress. Mol Cell 40, 294-309 (2010).
8. Loboda, A., Jozkowicz, A. & Dulak, J. HIF-1 versus HIF-2-is one more important than the other? Vascul Pharmacol 56, 245-251 (2012).
9. Tian, H., McKnight, S. L. & Russell, D. W. Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells. Genes Dev 11, 72-82 (1997).
10. Scortegagna, M., Morris, M. A., Oktay, Y., Bennett, M. & Garcia, J. A. The HIF family member EPAS1/HIF-2alpha is required for normal hematopoiesis in mice. Blood 102, 1634-1640 (2003).
11. Tian, H., Hammer, R. E., Matsumoto, A. M., Russell, D. W. & McKnight, S. L. The hypoxia-responsive transcription factor EPAS1 is essential for catecholamine homeostasis and protection against heart failure during embryonic development. Genes Dev 12, 3320-3324 (1998).
12. Peng, Y. et al. Genetic variations in Tibetan populations and high-altitude adaptation at the Himalayas. Mol Biol Evol 28, 1075-1081 (2011).
13. Xu, S. et al. A genome-wide search for signals of high-altitude adaptation in Tibetans. Mol Biol Evol 28, 1003-1011 (2011).
14. Yi, X. et al. Sequencing of 50 human exomes reveals adaptation to high altitude. Science 329, 75-78 (2010).
15. Ezzat, S., Yu, S. & Asa, S. L. Ikaros isoforms in human pituitary tumors: distinct localization, histone acetylation, and activation of the 59 fibroblast growth factor receptor-4 promoter. Am J Pathol 163, 1177-1184 (2003).
16. Csiszar, K. Lysyl oxidases: a novel multifunctional amine oxidase family. Prog Nucleic Acid Res Mol Biol 70, 1-32 (2001).
17. Hein, S. et al. Lysyl oxidases: expression in the fetal membranes and placenta. Placenta 22, 49-57 (2001).
18. Casey, M. L. & MacDonald, P. C. Lysyl oxidase (ras recision gene) expression in human amnion: ontogeny and cellular localization. J Clin Endocrinol Metab 82, 167-172 (1997).
19. Uriu-Adams, J. Y., Scherr, R. E., Lanoue, L. & Keen, C. L. Influence of copper on early development: prenatal and postnatal considerations. Biofactors 36, 136-152 (2010).
20. Percy, M. J. et al. A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. N Engl J Med 358, 162-168 (2008).
21. Zhuang, Z. et al. Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. N Engl J Med 367, 922-930 (2012).
22. Yang, C. et al. Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas. Blood 121, 2563-2566 (2013).
23. Saito, T. et al. Transcriptional regulation of endochondral ossification by HIF-2alpha during skeletal growth and osteoarthritis development. NatMed 16, 678-686 (2010).
24. Payne, K. J. & Dovat, S. Ikaros and tumor suppression in acute lymphoblastic leukemia. Crit Rev Oncog 16, 3-12 (2011).
25. He, L. C. et al. Ikaros inhibits proliferation and, through upregulation of Slug, increases metastatic ability of ovarian serous adenocarcinoma cells. Oncol Rep 28, 1399-1405 (2012).
26. Yagi, T. et al. High frequency of Ikaros isoform 6 expression in acute myelomonocytic and monocytic leukemias: implications for up-regulation of the antiapoptotic protein Bcl-XL in leukemogenesis. Blood 99, 1350-1355 (2002).
27. Dumortier, A. et al. Notch activation is an early and critical event during T-Cell leukemogenesis in Ikaros-deficient mice. Mol Cell Biol 26, 209-220 (2006).
28. Weng, A. P. et al. Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia. Science 306, 269-271 (2004).
29. Yamamoto, E. et al. Ikaros is expressed in human extravillous trophoblasts and involved in their migration and invasion. Mol Hum Reprod 11, 825-831 (2005).
30. Sun, L. et al. Expression of dominant-negative and mutant isoforms of the antileukemic transcription factor Ikaros in infant acute lymphoblastic leukemia. Proc Natl Acad Sci U S A 96, 680-685 (1999).
31. Yap, W. H., Yeoh, E., Tay, A., Brenner, S. & Venkatesh, B. STAT4 is a target of the hematopoietic zinc-finger transcription factor Ikaros in T cells. Febs Lett 579, 4470-4478 (2005).
32. Hekmatnejad, B., Gauthier, C. & St-Arnaud, R. Control of Fiat (factor inhibiting ATF4-mediated transcription) expression by Sp family transcription factors in osteoblasts. J Cell Biochem 114, 1863-1870 (2013).
33. Law, A. Y., Yeung, B. H., Ching, L. Y. & Wong, C. K. Sp1 is a transcription repressor to stanniocalcin-1 expression in TSA-treated human colon cancer cells, HT29. J Cell Biochem 112, 2089-2096 (2011).
34. Zhao, Y. et al. Inhibition of the transcription factor Sp1 suppresses colon cancer stem cell growth and induces apoptosis in vitro and in nude mouse xenografts. Oncol Rep 30, 1782-1792 (2013).
35. Menon, R. et al. Gender-based blood transcriptomes and interactomes in multiple sclerosis: involvement of SP1 dependent gene transcription. J Autoimmun 38, J144-155 (2012).
36. Wada, T. [Transcription factor EPAS1 regulates insulin signaling pathway]. Yakugaku Zasshi 127, 143-151 (2007).
37. Elvidge, G. P. et al. Concordant regulation of gene expression by hypoxia and 2- oxoglutarate-dependent dioxygenase inhibition: the role of HIF-1alpha, HIF- 2alpha, and other pathways. J Biol Chem 281, 15215-15226 (2006).
38. Wang, V., Davis, D. A., Haque, M., Huang, L. E. & Yarchoan, R. Differential gene up-regulation by hypoxia-inducible factor-1alpha and hypoxia-inducible factor- 2alpha in HEK293T cells. Cancer Res 65, 3299-3306 (2005).
39. Warnecke, C. et al. The specific contribution of hypoxia-inducible factor-2alpha to hypoxic gene expression in vitro is limited and modulated by cell type-specific and exogenous factors. Exp Cell Res 314, 2016-2027 (2008).
40. Erler, J. T. et al. Lysyl oxidase is essential for hypoxia-induced metastasis. Nature 440, 1222-1226 (2006).
41. Millar, L. K., Stollberg, J., DeBuque, L. & Bryant-Greenwood, G. Fetal membrane distention: determination of the intrauterine surface area and distention of the fetal membranes preterm and at term. Am J Obstet Gynecol 182, 128-134 (2000).
42. Cindrova-Davies, T. et al. Oxidative stress, gene expression, and protein changes induced in the human placenta during labor. Am J Pathol 171, 1168-1179 (2007).
43. Tissot van Patot, M. C. et al. Human placental metabolic adaptation to chronic hypoxia, high altitude: hypoxic preconditioning. Am J Physiol Regul Integr Comp Physiol 298, R166-172 (2010).
44. Abdel-Mageed, A. B., Welti, R., Oehme, F. W. & Pickrell, J. A. Perinatal hypocuprosis affects synthesis and composition of neonatal lung collagen, elastin, and surfactant. Am J Physiol 267, L679-685 (1994).
45. Zhang, Y. B., Li, X., Zhang, F., Wang, D. M. & Yu, J. A preliminary study of copy number variation in Tibetans. PLoS One 7, e41768 (2012).
46. Wu, W. et al. Regulation of integrin alphaV subunit expression by sulfatide in hepatocellular carcinoma cells. J Lipid Res 54, 936-952 (2013).
47. Schietke, R. et al. The lysyl oxidases LOX and LOXL2 are necessary and sufficient to repress E-cadherin in hypoxia: insights into cellular transformation processes mediated by HIF-1. J Biol Chem 285, 6658-6669 (2010).
48. Barrett, J. C., Fry, B., Maller, J. & Daly, M. J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263-265 (2005).
49. Stephens, M. & Scheet, P. Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet 76, 449-462 (2005).
50. Heinemeyer, T. et al.Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL. Nucleic Acids Res 26, 362-367 (1998).