Skip to main content

Genes, Enzymes and Hypoxia

  • Conference paper
Ecological Genetics: The Interface

Part of the book series: Proceedings in Life Sciences ((LIFE SCIENCES))

Abstract

Twenty thousand years or so ago, man appeared in the New World. We do not know how many prehistoric migrants reached the Americas through Beringia on this first occasion, - presumably only a few - nor how many subsequent migrations took place, nor the physical appearance of these individuals (see Laughlin, 1977). It is assumed they were mongoloid and possibly similar to the peoples presently indigenous to northeastern Siberia. Surprisingly quickly after their arrival, descendants of these early migrants had peopled the plains and woodlands of Canada and the United States, filtered through Mexico and the Isthmus of Panama, and had penetrated the southern continent. We do not know to which of the numerous regions of the Americas through which these early nomads passed in this prehistoric hegira they were best suited, but few regions would have been more hostile than the Andean altiplano which they reached twelve thousand years ago (MacNeish et al., 1970; but see also MacNeish, 1971). Ambient temperature can and frequently does vary more than 50 °C in the span of 24 hours; little shelter exists from the chilling, parching winds, and the partial oxygen pressure is but 60% of that which obtains at sea level. Normal thermoregulation is seriously challenged; so is the transport and tissue utilization of oxygen. However, man has obviously thrived in the Andes; more than ten million individuals now live there at altitudes of 3000 meters or more (Baker, 1977).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Abbott, D.C., Field, K., Johnson, E.I.: Observations on the correlation of anti-cholinesterase effect with solanine content of potatoes. The Analyst 85:375–376. (1960).

    Article  CAS  Google Scholar 

  • Anonymous: Editorial, Lancet ii: 414–415. (1972).

    Google Scholar 

  • Arnold, H., Hoffman, A., Englehardt, R., Lohr, G.W.: Purification and kinetic properties of glucosephosphate isomerase from human erythrocytes. In Erythrocytes, Thrombocytes, Leukocytes: Recent Advances in Membrane and Metabolic Research. (ed. E. Garlack, K. Moser, E. Deutsch, and W. Williams). Gerog Stuttgart Thieme, 1973, pp. 177–180.

    Google Scholar 

  • Astrand, P., Rodahl, K.: Textbook of Work Physiology. New York: McGraw-Hill, 1970.

    Google Scholar 

  • Baker, P.T.: The adaptive fitness of high altitude populations. In The Biology of High Altitude People. (ed. P.T. Baker). Cambridge: Cambridge University Press, 1977.

    Google Scholar 

  • Barrie, S.E., Harris, P.: Effects of chronic hypoxia and dietary restriction on myocardial enzyme activities. Am. J. Phys. 231: 1308–1313. (1976).

    CAS  Google Scholar 

  • Bellingham, A.J.: Haemoglobins with altered oxygen affinity. Br. Med. Bull. 32:234–238. (1976).

    PubMed  CAS  Google Scholar 

  • Benesch, R., Benesch, R.E.: Intracellular organic phosphates as regulators of oxygen release by hemoglobin. Nature 221:618–622. (1969).

    Article  PubMed  CAS  Google Scholar 

  • Bertin, R., Harris, J.E., Ferrell, R.E., Schull, W.J.: The Nubians of Kom Ombo: Serum and red cell protein types. Hum. Hered. 28:66–71. (1977).

    Article  Google Scholar 

  • Beutler, E., Matsumoto, F., Guinto, E.: The effect of 2, 3-DPG on red cell enzymes. Experientia 3:191–193. (1974).

    Google Scholar 

  • Brewer, G.J.: Erythrocyte metabolism and function: Hexokinase inhibition by 2, 3-diphosphoglycerate and interaction with ATP and Mg2+. Biochim. Biophys. Acta 192:157–161. (1969).

    PubMed  CAS  Google Scholar 

  • Ferrell, R.E., Bertin, T., Barton, S., Rothhammer, F., Schull, W.J.: A multinational Andean Genetic and Health Program. IX. Gene frequencies for 20 serum protein and erythrocyte enzyme systems in the Aymara of Chile. Am. J. Hum. Genet, (submitted). (1978a).

    Google Scholar 

  • Ferrell, R.E., Nunez, A., Bertin, T., Labarthe, D.R., Schull, W.J.: The blacks of Panama: Their genetic diversity as assessed by 15 inherited biochemical systems. Am. J. Phys. Anthro. 48:269–276. (1978b).

    Article  CAS  Google Scholar 

  • Ferrell, R.E., Bertin, T., Barton, S.A., Young, R., Murillo, F., Schull, W.J.: The Aymara of western Bolivia. IV. Gene frequencies for 8 blood groups and 20 serum protein and erythrocyte enzyme systems. Am. J. Hum. Genet. 30 (1978c).

    Google Scholar 

  • Frisancho, R.: Functional adaptation to high altitude hypoxia. Science 187:313–319. (1975).

    Article  PubMed  CAS  Google Scholar 

  • Goldsmith, R.I., Rothhammer, F., Schull, W.J.: Mydriasis and heredity. Clin. Genet. 12:128–133. (1977).

    Google Scholar 

  • Harris, H.: The Principles of Human Biochemical Genetics, 2nd Edition. New York: American Elsevief Publ. Co., 1976.

    Google Scholar 

  • Harris, H., Hopkinson, D.A., Robson, E.B.: The incidence of rare alleles determining electrophoretic variants: Data on 43 enzyme loci in man. Ann. Hum. Genet. 37:237–253. (1973).

    Article  Google Scholar 

  • Harris, H., Whittaker, M.: Differential response of human serum Cholinesterase types to an inhibitor in potato. Nature 183: 1808–1809. (1959).

    Article  PubMed  CAS  Google Scholar 

  • Harris, P.: Myocardial metabolism. In Man at High Altitude, (ed. D. Heath and D.R. Williams). Edinburgh: Churchill Livingstone, 1977.

    Google Scholar 

  • Harris, P., Castillo, Y., Gibson, K., Heath, D., Arias-Stella, J.: Succinic and lactic dehydrogenase activity in myocardial homogenates from animals at high and low altitude. J. Mol. Cell. Cardiol. 1:189–193. (1970).

    Article  Google Scholar 

  • Hurtado, A.: The influence of high altitude on physiology. In High Altitude Physiology: Cardiac and Respiratory Aspects (ed. R. Porter and J. Knight). London: Churchill-Livingstone, 1971, pp. 3–13.

    Google Scholar 

  • Kendall, A.G., Tashian, R.E.: Erythrocyte carbonic anhydrase I (CA I): Inherited deficiency in humans. Science 197:471–472. (1977).

    Article  PubMed  CAS  Google Scholar 

  • Kirk, R.L., Keats, B., Blake, N.M., McDermid, E.J., Ala, F., Karimi, M., Nickbin, B., Shabazi, H., Kmet, J.: Genes and people in the Caspian Littoral: A population genetic study in Northern Iran. Am. J. Phys. Anthrop. 46: 377–390. (1977).

    Article  PubMed  CAS  Google Scholar 

  • Laughlin, W.S.: Origins and affinities of the first Americans. In Origins and Affinities of the First Americans (ed. W.S. Laughlin) New York: Gustav Fischer, 1977.

    Google Scholar 

  • Lenfant, C., Torrance, J., English, E., Finch, C.A., Reynafarje, C., Ramos, J., Faura, J.: Effect of altitude on oxygen binding by hemoglobin and on organic phosphate levels. J. Clin. Invest. 47:2652–2656. (1968).

    Article  PubMed  CAS  Google Scholar 

  • MacNeish, R.S.: Early man in the Andes. Sci. Am. 224:36–46. (1971).

    Article  Google Scholar 

  • MacNeish, R.S., Berger, R., Protsch, R.: Megafauna and man from Ayacucho, highland Peru. Science 168:975–977. (1970).

    Article  PubMed  CAS  Google Scholar 

  • Mazess, R.B., Baker, P.T.: Diet of Quechua Indians living at high altitude: Nunoa, Peru. Am. J. Clin. Nurt. 15:341–351. (1964).

    CAS  Google Scholar 

  • Mourant, A.E., Kopec, A.C., Domaniewska-Sobczak, K.: The Distribution of the Human Blood Groups and Other Polymorphisms. London: Oxford University Press, 1976.

    Google Scholar 

  • Nagel, R.L., Bookchin, R.M.: Human hemoglobin mutants with abnormal oxygen binding. Sem. Hemato. 11:385–403. (1974).

    CAS  Google Scholar 

  • Neel, J.V., Ferrell, R.E., Conard, R.A.: The frequency of “rare” protein variants in Marshall Islanders and other Micronesians. Am. J. Hum. Genet. 28:262–269, (1976).

    PubMed  CAS  Google Scholar 

  • Pokrovsky, A.A.: Action of alkaloids of sprouting potatoes on Cholinesterase. Biokhimya 21:705–709. (1960).

    Google Scholar 

  • Rose, I.A., O’Connel, E.L.: The role of glucose-6-phosphate in the regulation of glucose metabolism in human erythrocytes. J. Biol. Chem. 239:12–17. (1964).

    PubMed  CAS  Google Scholar 

  • Rothhammer, F.: Microdiferenciacion Genetica de una Poblacion Indigena de Habla Aymara en la Provincia de Arica. Ph.D. Dissertation, Universidad de Chile, Sede Santiago-Oriente. (1977).

    Google Scholar 

  • Sauer, C.O.: Cultivated plants of South and Central America. In Handbook of South American Indians, Vol. VI. (ed. J.H. Steward). New York: Cooper Square Publ. Inc., 1963.

    Google Scholar 

  • Schroter, W.: Kongentale nichtsparacytare hämolytische Anämie bie 2,3-phosphoglyceratmutase Mangel der Erythrocyten im fuhren Saulingsalter. Klin. Wschr. 43:1147–1153. (1965).

    Article  PubMed  CAS  Google Scholar 

  • Schull, W.J., Rothhammer, F.: A multinational Andean genetic and health programme: A study of adaptation to the hypoxia of altitude. In Genetic and Nongenetic Components in Physiological Variability. (ed. J.S. Weiner). London: Society for the Study of Human Biology, Vol. 17, 1977a, pp. 139–169.

    Google Scholar 

  • Schull, W.J., Rothhammer, F.: Analytic methods for genetic and adaptational studies. In Origins and Affinities of the First Americans. (ed. W.S. Laughlin). New York: Gustav Fisher, 1977b.

    Google Scholar 

  • Srivastava, S.K., Beutler, E.: The effect of normal red cell constituents on the activities of the red cell enzymes. Arch. Biochem. Biophys. 148:249–255. (1972).

    Article  PubMed  CAS  Google Scholar 

  • Tanis, R.J., Neel, J.V., Dovey, H., Morrow, M.: The genetic structure of a tribal population, the Yanomama Indians. IX. Gene frequencies for 18 serum proteins and erythrocyte enzyme systems in the Yanomama and five neighboring tribes: Nine new variants. Am. J. Hum. Genet. 25:655–676. (1973).

    PubMed  CAS  Google Scholar 

  • Tschopik, H.: The Aymara. In Handbook of South American Indians, Vol. II. (ed. J.H. Steward). New York: Cooper Square Publ. Inc. 1963.

    Google Scholar 

  • Valentine, W.N., Tanaka, K.R.: Pyruvate kinase deficiency and other enzyme-deficiency hereditary hemolytic anemias. In The Metabolic Basis of Inherited Disease, (ed. J. Stanbury, J.J. Wyngaarden, and D.S. Frederickson). New York: McGraw-Hill, 1972, pp. 1338–1357.

    Google Scholar 

  • Weiss, K.M., Schull, W.J.: Demography and the measurement of Darwinian fitness. Proc. IUSSP General Conference, Mexico City. Vol. 3, 1977, pp. 391–408.

    Google Scholar 

  • Yanase, T., Hanada, M., Scita, M., Ohya, I., Ohta, Y., Imamura, T., Fujimura, T., Kawasaki, K., Yamaoka, K.: Molecular basis of morbidity - from a series of studies of hemoglobinopathies in Western Japan. Jap. J. Hum. Genet. 13:40–53. (1968).

    CAS  Google Scholar 

  • Yen, F.: Polimorfismo a nivel molecular de los genes que determinan la fosfatasa acida del eritrocito en poblaciones humanas del altiplano Peruano. Arch, del Inst, de Biol. And. 5:1–12. (1972).

    Google Scholar 

  • Yoshida, A.: Hemolytic anemia and G6PD deficiency. Science 179: 532–537. (1973).

    Article  PubMed  CAS  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1978 Springer-Verlag New York Inc.

About this paper

Cite this paper

Schull, W.J., Ferrell, R.E., Rothhammer, F. (1978). Genes, Enzymes and Hypoxia. In: Brussard, P.F. (eds) Ecological Genetics: The Interface. Proceedings in Life Sciences. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-6330-2_4

Download citation

  • DOI: https://doi.org/10.1007/978-1-4612-6330-2_4

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4612-6332-6

  • Online ISBN: 978-1-4612-6330-2

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics