High altitude genetic adaptation in Tibetans: No role of increased hemoglobin-oxygen affinity

Blood Cells, Molecules, and Diseases

Volumn 53, Issue 1-2, 2014, Pages 27-29

  Tashi, Tsewang ^a   Feng, Tang ^b   Koul, Parvaiz ^c   Amaru, Ricardo ^d   Hussey, Dottie ^e   Lorenzo, Felipe R ^a   RiLi, Ge ^b   Prchal, Josef T ^a,e  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b QINGHAI UNIVERSITY   (China)

^c SHER I KASHMIR INSTITUTE OF MEDICAL SCIENCES   (India)

^d UNIVERSIDAD MAYOR DE SAN ANDRÉS   (Bolivia)

^e ARUP LABORATORIES   (United States)

Author keywords

Fetal hemoglobin; Hemoglobin oxygen affinity; Hypoxia

Indexed keywords

HEMOGLOBIN; HEMOGLOBIN F; OXYGEN; PROTEIN BINDING;

ADULT; AGED; ALTITUDE; ARTICLE; CONTROLLED STUDY; EVOLUTIONARY ADAPTATION; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ASSOCIATION; HAPLOTYPE; HBB GENE; HEMOGLOBIN BLOOD LEVEL; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MALE; MOLECULAR DYNAMICS; MOLECULAR EVOLUTION; OXYGEN AFFINITY; PHENOTYPE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; TIBETAN (PEOPLE); ADAPTATION; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; GENETICS; INDIA; METABOLISM; MIDDLE AGED; OXIMETRY; UNITED STATES;

ADAPTATION, BIOLOGICAL; ADULT; AGED; ALTITUDE; ASIAN CONTINENTAL ANCESTRY GROUP; FEMALE; HEMOGLOBINS; HUMANS; INDIA; MALE; MIDDLE AGED; OXIMETRY; OXYGEN; PROTEIN BINDING; TIBET; UNITED STATES;

EID: 84900013040     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2014.02.003     Document Type: Article

References (20)

1. Morpurgo G., Battaglia P., Bernini L., Paolucci A.M., Modiano G. Higher Bohr effect in Indian natives of Peruvian highlands as compared with Europeans. Nature 1970, 227(5256):387-388.
2. Morpurgo G., Arese P., Bosia A., et al. Sherpas living permanently at high altitude: a new pattern of adaptation. Proc. Natl. Acad. Sci. U. S. A. 1976, 73(3):747-751.
3. Hu H., Simonson T.S., Glusman G., et al. Insights on the evolutionary history of Tibetans from whole-genome sequence data. Annual Meeting of the American Society of Human Genetics October 25, 2013, [abstract], American Society of Human Genetics, Boston, MA, [Abstract # 2050F].
4. Beall C.M. Two routes to functional adaptation: Tibetan and Andean high-altitude natives. Proc. Natl. Acad. Sci. U. S. A. 2007, 104(Suppl. 1):8655-8660.
5. Wagner P., Simonson T., Wei G., et al. High altitude physiology: lessons from Tibet. Proc SPIE May 29, 2013, 8723. (87230S, Accessed November 30, 2013). 10.1117/12.2020038.
6. Simonson T.S., Yang Y., Huff C.D., et al. Genetic evidence for high-altitude adaptation in Tibet. Science 2010, 329(5987):72-75.
7. Lorenzo F.R., Simonson T.S., Yang Y., Ge R., Prchal J.T. A novel PHD2 mutation associated with Tibetan genetic adaptation to high altitude hypoxia. Blood 2010, 116(21). [abstract], (Abstract # 2602 and under review in Nature Genetics, 2013).
8. Reynafarje C., Faura J., Villavicencio D., et al. Oxygen transport of hemoglobin in high-altitude animals (Camelidae). J. Appl. Physiol. 1975, 38(5):806-810.
9. Moore L.G., Curran-Everett L., Droma T.S., et al. Are Tibetans better adapted?. Intl. J. Sports Med. 1992, 13:S86-S89.
10. Wu T., Kayser B. High altitude adaptation in Tibetans. High Alt. Med. Biol. 2006, 7(3):193-208.
11. Niermeyer S., Yang P., Shanmina, Drolkar, Zhuang J., Moore L.G. Arterial oxygen saturation in Tibetan and Han infants born in Lhasa, Tibet. N. Engl. J. Med. 1995, 333(19):1248-1252.
12. Beall C.M., Blangero J., Williams-Blangero S., Goldstein M.C. Major gene for percent of oxygen saturation of arterial hemoglobin in Tibetan highlanders. Am. J. Phys. Anthropol. 1994, 95(3):271-276.
13. Yi X., Liang Y., Huerta-Sanchez E., et al. Sequencing of 50 human exomes reveals adaptation to high altitude. Science 2010, 329(5987):75-78.
14. Lichtman M.A., Murphy M.S., Adamson J.W. Detection of mutant hemoglobins with altered affinity for oxygen. A simplified technique. Ann. Intern. Med. 1976, 84(5):517-520.
15. Storz J.F., Moriyama H. Mechanisms of hemoglobin adaptation to high altitude hypoxia. High Alt. Med. Biol. 2008, 9(2):148-157.
16. Rottgardt I., Rothhammer F., Dittmar M. Native highland and lowland populations differ in γ-globin gene promoter polymorphisms related to altered fetal hemoglobin levels and delayed fetal to adult globin switch after birth. Anthropol. Sci. 2010, 118(1):41-48.
17. Risso A., Fabbro D., Damante G., Antonutto G. Expression of fetal hemoglobin in adult humans exposed to high altitude hypoxia. Blood Cells Mol. Dis. 2012, 48(3):147-153.
18. Salomon-Andonie J., Miasnikova G., Serqueeva A., Polyakova L.A., Niu X., Nekhai S., Gordeuk V.R. Effect of congenital upregulation of hypoxia inducible factors on percentage of fetal hemoglobin in the blood. Blood 2013, 122(17):3088-3089. [letter to the editor].
19. Hebbel R.P., Eaton J.W., Kronenberg R.S., Zanjani E.D., Moore L.G., Berger E.M. Human Llamas: adaptation to altitude in subjects with high hemoglobin oxygen affinity. J. Clin. Invest. 1978, 62(3):593-600.
20. Moore L.G. Human genetic adaptation to high altitude. High Alt. Med. Biol. 2001, 2(2):257-279.