An evolutionary approach to the high frequency of the Delta F508 CFTR mutation in European populations

Medical Hypotheses

Volumn 74, Issue 6, 2010, Pages 989-992

  Alfonso Sánchez, Miguel A ^a   Pérez Miranda, Ana M ^a   García Obregón, Susana ^a   Peña, José A ^a  

^a UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE; HLA ANTIGEN; LACTASE; MAJOR HISTOCOMPATIBILITY ANTIGEN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; CATTLE; CATTLE FARMING; CYSTIC FIBROSIS; DAIRY CATTLE; DIARRHEA; DISEASE TRANSMISSION; DOMESTIC ANIMAL; EUROPE; GENE FREQUENCY; GENE MUTATION; GENETIC SUSCEPTIBILITY; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HYPOTHESIS; INFECTION RESISTANCE; INTESTINE INFECTION; MILK; MORTALITY; NEOLITHIC; NONHUMAN; PALEOLITHIC; PATHOGENESIS; POPULATION GENETICS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ANIMALS; CATTLE; COMMUNICABLE DISEASES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DISEASE VECTORS; EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; EVOLUTION; FEMALE; GENE FREQUENCY; HETEROZYGOTE; HISTORY, ANCIENT; HUMANS; MALE; MODELS, GENETIC; MUTATION; SELECTION, GENETIC; SEQUENCE DELETION;

ANIMALIA; BOS; BOVINAE;

EID: 77951620816     PISSN: 03069877     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mehy.2009.12.018     Document Type: Article

References (40)

1. Welsh M.J., Tsui L.C., Boat T.F., Beaudet A.L. Cystic fibrosis. The metabolic and molecular basis of inherited disease 1995, 3799. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
2. Farrall M., Wainwright B.J., Feldman G.L., Beaudet A., Sretenovic Z., Halley D., et al. Recombinations between IRP and cystic fibrosis. Am J Hum Genet 1988, 43:471-475.
3. Riordan J.R., Rommens J.M., Kerem B., Alon N., Rozmahel R., Grzelczak Z., et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989, 245:1066-1073.
4. Serre J.L., Simon-Bouy B., Mornet E., Jaume-Roig B., Balassopoulou A., Schwartz M., et al. Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics. Hum Genet 1990, 84:449-454.
5. Casals T., Nunes V., Palacio A., Giménez J., Gaona A., Ibáñez N., et al. Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area. Hum Genet 1993, 91:66-70.
6. Estivill X., Chillon M., Casals T., Bosch A., Morral N., Nunes V., et al. Delta F508 gene deletion in cystic fibrosis in southern Europe. Lancet 1989, 2:1404.
7. EWGCFG Gradient of distribution in Europe of the major CF mutation, of its associated haplotype. Hum Genet 1990, 85:436-441.
8. Currat M., Excoffier L. The effect of the Neolithic expansion on European molecular diversity. Proc Biol Sci 2005, 272:679-688.
9. Sampietro M.L., Lao O., Caramelli D., Lari M., Pou R., Martí M., et al. Palaeogenetic evidence supports a dual model of Neolithic spreading into Europe. Proc Biol Sci 2007, 274:2161-2167.
10. Casals T., Vázquez C., Lázaro C., Girbau E., Giménez F.J., Estivill X. Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin. Am J Hum Genet 1992, 50:404-410.
11. Bertranpetit J., Calafell F. Genetic and geographical variability in cystic fibrosis: evolutionary considerations. Ciba Found Symp 1996, 197:97-114.
12. Naugler C. Hemochromatosis: a Neolithic adaptation to cereal grain diets. Med Hypotheses 2008, 70:691-692.
13. Naugler C., Liwski R. An evolutionary approach to major histocompatibility diversity based on allele supertypes. Med Hypotheses 2008, 70:933-937.
14. Harris E.E., Malyango A.A. Evolutionary explanations in medical and health profession courses: are you answering your students' " why" questions?. BMC Med Educ 2005, 5:16.
15. Bradbury J. Ancient footsteps in our genes: evolution and human disease. Gene variants selected during evolution may underlie many common diseases. Lancet 2004, 363:952-953.
16. Romeo G., Devoto M., Galietta L.J.V. Why is the cystic fibrosis gene so frequent?. Hum Genet 1989, 84:1-5.
17. Barrett R., Kuzawa C.W., McDade T., Armelagos G.J. Emerging and re-emerging infectious disease: the third epidemiologic transition. Ann Rev Anthropol 1998, 27:247-271.
18. Midgley M. TRB culture: the first farmers of the North European plain 1992, Edinburgh University Press, Edinburgh.
19. Bocquet-Appel J.P. Paleoanthropological traces of a Neolithic demographic transition. Curr Anthropol 2002, 43:637-650.
20. Vogel F., Motulsky A. Hum Genet 1997, Springer, Berlin.
21. Alfonso-Sánchez M.A., Panera-Mendieta V., Peña J.A., Calderón R. Demographic and health patterns in a rural community from the Basque area in Spain (1800-1990). J Biosoc Sci 2002, 34:541-558.
22. Alfonso-Sánchez M.A., Calderón R., Peña J.A. Opportunity for natural selection in a Basque population and its secular trend: evolutionary implications of epidemic mortality. Hum Biol 2004, 76:361-381.
23. Diamond J. Evolution, consequences, and future of plant and animal domestication. Nature 2002, 418:34-41.
24. Zilhão J. Radiocarbon evidence for maritime pioneer colonization at the origins of farming in west Mediterranean Europe. Proc Natl Acad Sci USA 2001, 98:14180-14185.
25. Beja-Pereira A., Luikart G., England P.R., Bradley D., Jann O.C., Bertorelle G., et al. Gene-culture coevolution between cattle milk protein genes and human lactase genes. Nat Genet 2003, 35:311-313.
26. Beja-Pereira A., Caramelli D., Lalueza-Fox C., Vernesif C., Ferrand N., Casoli A., et al. The origin of European cattle: evidence from modern and ancient DNA. Proc Natl Acad Sci USA 2006, 103:8113-8118.
27. Hollox E.J., Poulter M., Zvarik M., Ferak V., Krause A., Jenkins T., et al. Lactase haplotype diversity in the old world. Am J Hum Genet 2001, 68:160-172.
28. Bersaglieri T., Sabeti P.C., Patterson N., Vanderploeg T., Schaffner S., Drake J.A., et al. Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet 2004, 74:1111-1120.
29. Nagel R.L., Roth E.F. Malaria and red cell genetic defects. Blood 1989, 74:1213-1221.
30. Modiano G., Ciminelli G.M., Pignatti P.F. Cystic fibrosis and lactase persistence: a possible correlation. Eur J Hum Genet 2007, 15:255-259.
31. Shiina T., Hosomichi K., Inoko H., Kulski J.K. The HLA genomic loci map: expression, interaction, diversity and disease. J Hum Genet 2009, 54:15-39.
32. Segal S., Hill A. Genetic susceptibility to infectious disease. Trends Microbiol 2003, 11:445-448.
33. Cooke G., Hill A. Genetics of susceptibility to human infectious disease. Nat Rev Genet 2001, 2:967-977.
34. Meyer D., Thomson G. How selection shapes variation of the human major histocompatibility complex: a review. Ann Hum Genet 2001, 65:1-26.
35. Pérez-Miranda A.M., Alfonso-Sánchez M.A., Peña J.A., Calderón R. HLA-DQA1 polymorphism in autochthonous Basques from Navarre (Spain): genetic position within European and Mediterranean scopes. Tissue Antigens 2003, 61:465-474.
36. Pérez-Miranda A.M., Alfonso-Sánchez M.A., Vidales M.C., Calderón R., Peña J.A. Genetic polymorphism and linkage disequilibrium of the HLA-DP region in Basques from Navarre (Spain). Tissue Antigens 2004, 64:264-275.
37. HLA 1991. Proceedings of the eleventh international histocompatibility workshop and conference. 1992, Oxford Science Publications, Oxford. K. Tsuji, M. Aizawa, T. Sasazuki (Eds.).
38. Genetic Diversity of HLA: functional and medical implications 1997, EDK, Paris. D. Charron (Ed.).
39. HLA 1998 1998, American Society for Histocompatibility and Immunogenetics, Lenexa, Kansas. D.W. Gjertson, P.I. Terasaki (Eds.).
40. Sokal R., Harding R., Oden N. Spatial patterns of human gene frequencies in Europe. Am J Phys Anthropol 1989, 80:267-294.