The Δccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe

Human Molecular Genetics

Volumn 7, Issue 3, 1998, Pages 399-406

  Libert, Frédérick ^a   Cochaux, Pascale ^a   Beckman, Gunhild ^b   Samson, Michel ^a   Aksenova, Marina ^c   Cao, Antonio ^d   Czeizel, Andrew ^e   Claustres, Mireille ^f   De La Rúa, Concepción ^g   Ferrari, Maurizio ^h   Ferrec, Claude ⁱ   Glover, Guillermo ^j   Grinde, Bjorn ^k   Güran, Sefik ^l   Kucinskas, Vaidutis ^m   Lavinha, Joao ⁿ   Mercier, Bernard ⁱ   Ogur, Gönül ^l   Peltonen, Leena ^o   Rosatelli, Cristina ^d   Schwartz, Marianne ^p   Spitsyn, Victor ^q   Timar, Laszlo ^e   Beckman, Lars ^b   Parmentier, Marc ^a   Vassart, Gilbert ^a   more..

^a UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^b UMEÅ UNIVERSITY   (Sweden)

^c STATE RESEARCH INSTITUTE OF GENETICS AND SELECTION OF INDUSTRIAL MICROORGANISMS   (Russian Federation)

^d UNIVERSITY OF CAGLIARI   (Italy)

^e National Institute of Public Health Budapest   (Hungary)

^f Institute of Biology   (France)

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

^h SAN RAFFAELE HOSPITAL   (Italy)

ⁱ Ctr Transfus Sang de Biogenetique   (France)

^j Unidad de Genetica Molecular   (Spain)

^k NORWEGIAN INSTITUTE OF PUBLIC HEALTH   (Norway)

^l GULHANE SCHOOL OF MEDICINE   (Turkey)

^m VILNIUS UNIVERSITY   (Lithuania)

ⁿ NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^o NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^p University of Copenhagen   (Denmark)

^q RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHEMOKINE RECEPTOR; MICROSATELLITE DNA; CHEMOKINE RECEPTOR CCR5;

ARTICLE; CAUCASIAN; CHROMOSOME 3P; DNA POLYMORPHISM; EUROPE; EVOLUTION; FINLAND; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS 1; ITALY; NORMAL HUMAN; POPULATION GENETICS; PRIORITY JOURNAL; RECEPTOR GENE; VIRUS RESISTANCE; ACQUIRED IMMUNE DEFICIENCY SYNDROME; ALLELE; COMPARATIVE STUDY; DINUCLEOTIDE REPEAT; EASTERN EUROPE; ETHNOLOGY; GENETIC MARKER; GENETIC POLYMORPHISM; GENETICS; HETEROZYGOTE; HOMOZYGOTE; IMMUNOLOGY;

ACQUIRED IMMUNODEFICIENCY SYNDROME; ALLELES; DINUCLEOTIDE REPEATS; EUROPE; EUROPE, EASTERN; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE DELETION; GENE FREQUENCY; GENETIC MARKERS; HETEROZYGOTE; HIV-1; HOMOZYGOTE; HUMANS; MICROSATELLITE REPEATS; POLYMORPHISM, GENETIC; RECEPTORS, CCR5;

EID: 6844240236     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.3.399     Document Type: Article

References (43)

1. Feng, Y., Broder, C.C., Kennedy, P.E. and Berger, E.A. (1996) HIV-1 entry cofactor: functional cDNA cloning of a seven-transmembrane, G protein-coupled receptor. Science, 272, 872-877.
2. Doranz, B.J., Rucker, J., Yi, Y., Smyth, R.J., Samson, M., Peiper, S.C., Parmentier, M., Collman, R.G. and Doms, R.W. (1996) A dual-tropic primary HIV-1 isolate that uses fusin and the beta-chemokine receptors CKR-5, CKR-3, and CKR-2b as fusion cofactors. Cell, 85, 1149-1158.
3. Deng, H., Liu, R., Ellmeier, W., Choe, S., Unutmaz, D., Burkhart, M., Di Marzio, P., Marmon, S., Sutton, R.E., Hill, C.M., Davis, C.B., Peiper, S.C., Schall, T.J., Littman, D.R. and Landau, N.R. (1996) Identification of a major co-receptor for primary isolates of HlV-1. Nature, 381, 661-666.
4. Alkhatib, G., Combadiere, C, Broder, C.C., Feng, Y., Kennedy, P.E., Murphy, P.M. and Berger, E.A. (1996) CC-CKR5 : a RANTES, MIP-1 α, MIP-1 β receptor as a fusion cofactor for macrophage-tropic HIV-1. Science. 272, 1955-1958.
5. Dragic, T., Litwin, V., Allaway, O.P., Martin, S.R., Huang, Y., Nagashima, K.A., Cayanan, C., Maddon, P.J., Koup, R.A., Moore, J.P. and Paxton, W.A. (1996) HIV-1 entry into CD4+ cells is mediated by the chemokine receptor CC-CKR-5. Nature, 381, 667-673.
6. Choe, H., Farzan, M., Sun, Y., Sullivan, N., Rollins, B., Ponath, P.D., Wu, L., Mackay, C.R., LaRosa, G., Newman, W., Gerard, N., Gerard, C. and Sodroski, J. (1996) The β-chemokine receptors CCR3 and CCR5 facilitate infection by primary HIV-1 isolates. Cell, 85, 1135-1148.
7. Baggiolini, M., Dewald, B. and Moser, B. (1994) Interleukin 8 and related chemotactic cytokines: CXC and CC chemokines. Adv. Immunol., 55, 97-179.
8. Samson, M., Labbé, O., Mollereau, C., Vassart, G. and Parmentier, M. (1996) Molecular cloning and functional expression of a new human CC-chemokine receptor gene. Biochemistry, 35, 3362-3367.
9. Zhang, L., Huang, Y., He, T., Cao, Y. and Ho. D.D. (1996) HIV-1 subtype and second-receptor use. Nature, 383, 768.
10. Roos, M.T., Lange, J.M., de Goede, R.E., Coutinho, R.A., Schellekens, P.T., Miedema, F. and Tersmette, M. (1992) Viral phenotype and immune response in primary human immunodeficiency virus type 1 infection. J. Infect. Dis., 165, 427-432.
11. Wolinsky, S.M., Korber, B.T., Neumann, A.U., Daniels, M., Kunstman, K.J., Whetsell, A.J., Furtado, M.R., Cao, Y, Ho, D.D. and Safrit, J.T. (1996) Adaptive evolution of human immunodeficiency virus-type 1 during the natural course of infection. Science, 272, 537-542.
12. Zhu, T., Mo, H., Wang, N., Nam, D.S., Cao, Y., Koup, R.A. and Ho, D.D. (1993) Genotypic and phenotypic characterization of HIV-1 patients with primary infection. Science, 261, 1179-1181.
13. Samson, M., Soularue, P., Vassart, G. and Parmentier, M. (1996) The genes encoding the human CC-chemokine receptors CC-CKR1 to 5 are clustered in the p21.3-p24 region of chromosome 3. Genomics 36, 522-526.
14. Paxton, W.A., Martin, S.R.,Tse, D., O'Brien, T.R., Skurnick, J., VanDevanter, N.L., Padian, N., Braun, J.F., Kotler, D.P., Wolinsky, S.M. and Koup, R.A. (1996) Relative resistance to HIV-1 infection of CD4 lymphocytes from persons who remain uninfected despite multiple high-risk sexual exposure. Nature Med., 2, 412-417.
15. Samson, M., Libert, F., Doranz, B.J., Rucker, J., Liesnard, C., Farber. C.M., Saragosti, S., Lapoumeroulie, C., Cognaux, J., Forceille, C., Muyldermans, G., Verhofstede, C., Burtonboy, G., Georges, M., Imai, T., Rana, S., Yi, Y., Smyth, R.J., Collman, R.G., Doms, R.W., Vassart, G. and Parmentier, M. (1996) Resistance to HIV-1 infection in Caucasian individuals bearing mutant alleles of the CCR5 chemokine receptor gene. Nature, 382, 722-725.
16. Liu, R., Paxton, W.A., Choc, S., Ceradini, D., Martin, S.R., Horuk, R., MacDonald, M.E., Stuhlmann. H., Koup, R.A. and Landau, N.R. (1996) Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection. Cell, 86, 367-377.
17. Dean, M., Carrington, M., Winkler, C., Huttley. G.A., Smith, M.W., Allikmets. R., Goedert. J.J., Buchbinder, S.P., Vittinghoff, E., Gomperts, E., Donfield, S., Vlahov, D., Kaslow, R., Saah, A., Rinaldo, C., Detels, R., Hemophilia Growth and Development Study, Multicenter AIDS Cohort Study, Multicenter Hemophilia Cohort Study, San Francisco City Cohort, ALIVE Study and O'Brien, S.J. (1996) Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Science, 273, 1856-1862.
18. Aarons, E., Fernandez, M., Rees, A., McClure, M. and Weber, J. (1997) CC-chemokine receptor 5 genotype and in vitro susceptibility to HIV-1 of a cohort of British HIV-exposed uninfected homosexual men. AIDS, 11, 688-689.
19. Huang, Y., Paxton, W.A., Wolinsky, S.M., Neumann, A.U., Zhang, L., He, T., Kang, S., Ceradini, D., Jin, Z., Yazdanbakhsh, K., Kunstman, K., Erickson, D., Dragon, E., Landau, N.R., Phair, J., Ho, D.D. and Koup, R.A. (1996) The role of a mutant CCR5 allele in HIV-1 transmission and disease progression. Nature Med., 2, 1240-1243.
20. Biti, R., French, R., Young, J., Bennet, B. and Steward, G. (1997) HIV-1 infection in an individual homozygous for the CCR5 deletion allele. Nature Med., 3, 252-253.
21. O'Brien, T.M., Winkler, C., Dean, M., Nelson, J., Carrington, M., Michael, N. and White, G.C. (1997) HIV-1 infection in a man homozygous for CCR5Δ32. Lancet, 349, 1219.
22. Theodorou, I., Meyer, L., Magierowska, M., Katlama, C. and Rouzioux, C. (1997) HIV-1 infection in an individual homozygous for CCR5 delta 32. Lancet, 349, 1219-1220
23. Rana, S., Besson, G., Cook, D.G., Rucker, J., Smyth, R.J., Yi, Y., Turner, J., Guo, H., Du, J.-G., Peiper, S.C., Lavi, E., Samson, M., Libert, F., Liesnard, C., Vassart, G., Doms, R.W., Parmentier, M., and Collman, R.G. (1997) Role of CCR5 in infection of primary macrophages and lymphocytes by M-tropic strains of HIV: resistance to patient-derived and prototype isolates resulting from the Δccr5 mutation. J. Virol., 71, 3219-3227.
24. Rappaport, J., Cho, Y.-Y., Hendel, H., Schwartz, E.J., Schachter, F. and Zagury, J.-F. (1997) 32 bp CCR-5 gene deletion and resistance to fast progression in HIV-1 infected heterozygotes, Lancet, 349, 922-923.
25. Eugen-Olsen, J., Iversen, A.K.N., Garred, P., Koppelhus, U., Pedersen, C., Benfield, T.L., Sorensen, A.M., Katzenstein, T., Dickmeiss, E., Gerstoft, J., Skinhoj, P., Svejgaard, A., Nielsen, J.O. and Hofmann, B. (1997) Heterozygosity fora deletion in the CKR-5 gene leads to prolonged AIDS-free survival and slower CD4 T-cell decline in a cohort of HIV-seropositive individuals. AIDS, 11, 305-310.
26. Michael, N.L., Chang, G., Louie, L.G., Mascola, J.R., Dondero, D., Birx, D.L. and Sheppard. H.W. (1997) The role of viral phenotype and CCR-5 gene defects in HIV-1 transmission and disease progression. Nature Med., 3, 338-340.
27. Martinson, J.J., Chapman, N.H., Rees, D.C., Liu, Y.T. and Clegg, J.B. (1997) Global distribution of the CCR5 gene 32-basepair deletion. Nature Genet., 16, 100-103.
28. Ansari-Lari, M.A., Liu, X.M., Metzker, M.L., Rut, A.R. and Gibbs, R.A. (1997) The extent of genetic variation in the CCR5 gene. Nature Genet., 16, 221-222.
29. He, J., Chen, Y., Farzan, M., Choe, H., Ohagen, A., Gartner, S., Busciglio, J., Yang, X., Hofmann, W., Newman, W., Mackay, C.R., Sodroski, J. and Gabuzda, D. (1997) CCR3 and CCR5 are co-receptors for HIV-1 infection of microglia. Nature, 385, 645-649.
30. Wu, L., Paxton, W.A., Kassam, N., Ruffing, N., Rottman, J.B., Sullivan, N., Choe, H., Sodroski, J., Newman, W., Koup, R.A. and Mackay, C.R. (1997) CCR5 levels and expression pattern correlate with infectability by macrophage-tropic HIV-1, in vitro. J. Exp. Med., 185, 1681-1691.
31. Granelli-Piperno, A., Moser, B., Pope, M., Chen, D., Wei, Y., Isdell, F., O'Doherty, U., Paxton, W., Koup, R., Mojsov, S., Bhardwaj, N., Clark-Lewis, I., Baggiolini, M. and Steinman, R.M. (1996) Efficient interaction of HIV-1 with purified dendritic cells via multiple chemokine coreceptors. J. Exp. Med., 184, 2433-2438.
32. Garred P., Eugen-Olsen, J., Iversen, A.K., Benfield, T.L., Svejgaard, A. and Hofmann, B. (1997) Dual effect of CCR5 delta 32 gene deletion in HIV-1-infected patients. Copenhagen AIDS Study Group. Lancet, 349, 1884.
33. McCombie, W. R., Wilson, R., Chen, E., Gibbs, R., Zuo, L., Johnson, D., Nhan. M., Pamell, L., Dedhia, N., Ansari, A., Mardis, E., Schutz, K., Gnoj, L., de la Bastide, M., Kaplan, N., Greco, T., Touchman, J., Muzny, D., Chen, C-N., Evans. C., FitzGerald, M., See, L. H., Tang, M., Porcel, B. M., Dragan, Y., Giacalone, J., Pae, A., Powell, E., Solinsky, K. A., DeSilva, U., Diaz-Perez, S., Zhou, X., Yu, Y., Watanabe, M., Doggett, N., Garcia, D. and Sagripanti, J.-L. (1997) Human BAC clone 110P12. EMBL/Genbank U95626.
34. Weber, J.L. and Wong, C. (1993) Mutations of human short tandem repeats. Hum. Mol. Genet. 2, 1123-1128.
35. Rubinsztein, D.C., Amos, W., Leggo, J., Goodburn, S., Jain, S., Li, S.-H., Margolis, R.L., Ross, C.A. and Ferguson-Smith, M.A. (1995) Microsatellite evolution - evidence for directionality and variation in rate between species. Nature Genet., 10, 337-343.
36. Hästbacka, J., de la Chapelle, A., Sistonen, P., Weaver, A. and Lander, E. (1992) Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nature Genet., 2, 204-211.
37. Wennberg, C. and Kucinkas, V. (1994) Low frequency of the ΔF508 mutation in Finno-Ugrian and Baltic populations. Hum. Hered., 44, 169-171.
38. Beckman, L.E., Saha, N., Spitsyn, V., Van Landeghem, G. and Beckman, L. (1997) Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism. Hum. Hered., in press.
39. Sajantila, A., Lahermo, P., Anttinen, T., Lukka, M., Sistonen, P., Savontaus, M.L., Aula, P., Beckman, L., Tranebjaerg, L., Gedde Dahl, T., Issel Tarver, L., DiRienzo, A. and Paabo, S. (1995) Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res., 5, 42-52.
40. Motulsky, A.G. (1995) Jewish diseases and origins. Nature Genet., 9, 99-101.
41. Cavalli-Sforza, L.L., Menozzi, P. and Piazza, A. (1993) The History and Geography of Human Genes. Princeton University Press, Princeton, NJ.
42. Deng, H., Unutmaz, D., KawalRamani, V.N. and Littman, D. (1997) Expression cloning of new receptors used by simian and human immunodeficiency viruses. Nature, 388, 296-300.
43. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.