Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes. Export

@article{citeulike:561893, abstract = {The CCR5-Delta32 deletion obliterates the CCR5 chemokine and the human immunodeficiency virus (HIV)-1 coreceptor on lymphoid cells, leading to strong resistance against HIV-1 infection and AIDS. A genotype survey of 4,166 individuals revealed a cline of CCR5-Delta32 allele frequencies of 0\%-14\% across Eurasia, whereas the variant is absent among native African, American Indian, and East Asian ethnic groups. Haplotype analysis of 192 Caucasian chromosomes revealed strong linkage disequilibrium between CCR5 and two microsatellite loci. By use of coalescence theory to interpret modern haplotype genealogy, we estimate the origin of the CCR5-Delta32-containing ancestral haplotype to be approximately 700 years ago, with an estimated range of 275-1,875 years. The geographic cline of CCR5-Delta32 frequencies and its recent emergence are consistent with a historic strong selective event (e.g. , an epidemic of a pathogen that, like HIV-1, utilizes CCR5), driving its frequency upward in ancestral Caucasian populations.}, address = {Laboratory of Genomic Diversity, National Cancer Institute, Frederick, MD 21702-1201, USA.}, author = {Stephens, J. C. and Reich, D. E. and Goldstein, D. B. and Shin, H. D. and Smith, M. W. and Carrington, M. and Winkler, C. and Huttley, G. A. and Allikmets, R. and Schriml, L. and Gerrard, B. and Malasky, M. and Ramos, M. D. and Morlot, S. and Tzetis, M. and Oddoux, C. and di Giovine, F. S. and Nasioulas, G. and Chandler, D. and Aseev, M. and Hanson, M. and Kalaydjieva, L. and Glavac, D. and Gasparini, P. and Kanavakis, E. and Claustres, M. and Kambouris, M. and Ostrer, H. and Duff, G. and Baranov, V. and Sibul, H. and Metspalu, A. and Goldman, D. and Martin, N. and Duffy, D. and Schmidtke, J. and Estivill, X. and O'Brien, S. J. and Dean, M.}, citeulike-article-id = {561893}, citeulike-linkout-0 = {http://view.ncbi.nlm.nih.gov/pubmed/9585595}, citeulike-linkout-1 = {http://www.hubmed.org/display.cgi?uids=9585595}, issn = {0002-9297}, journal = {Am J Hum Genet}, keywords = {allele, autosomal, ccr5, dating, delta-32, hiv-resistance, origin}, month = {June}, number = {6}, pages = {1507--1515}, posted-at = {2006-03-24 00:27:23}, priority = {5}, title = {Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes.}, url = {http://view.ncbi.nlm.nih.gov/pubmed/9585595}, volume = {62}, year = {1998} }

TY - JOUR ID - citeulike:561893 L3 - citeulike-article-id:561893 N2 - The CCR5-Delta32 deletion obliterates the CCR5 chemokine and the human immunodeficiency virus (HIV)-1 coreceptor on lymphoid cells, leading to strong resistance against HIV-1 infection and AIDS. A genotype survey of 4,166 individuals revealed a cline of CCR5-Delta32 allele frequencies of 0%-14% across Eurasia, whereas the variant is absent among native African, American Indian, and East Asian ethnic groups. Haplotype analysis of 192 Caucasian chromosomes revealed strong linkage disequilibrium between CCR5 and two microsatellite loci. By use of coalescence theory to interpret modern haplotype genealogy, we estimate the origin of the CCR5-Delta32-containing ancestral haplotype to be approximately 700 years ago, with an estimated range of 275-1,875 years. The geographic cline of CCR5-Delta32 frequencies and its recent emergence are consistent with a historic strong selective event (e.g. , an epidemic of a pathogen that, like HIV-1, utilizes CCR5), driving its frequency upward in ancestral Caucasian populations. IS - 6 JF - Am J Hum Genet SN - 0002-9297 AD - Laboratory of Genomic Diversity, National Cancer Institute, Frederick, MD 21702-1201, USA. EP - 1515 TI - Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes. VL - 62 SP - 1507 KW - allele KW - autosomal KW - ccr5 KW - dating KW - delta-32 KW - hiv-resistance KW - origin AU - Stephens, JC AU - Reich, DE AU - Goldstein, DB AU - Shin, HD AU - Smith, MW AU - Carrington, M AU - Winkler, C AU - Huttley, GA AU - Allikmets, R AU - Schriml, L AU - Gerrard, B AU - Malasky, M AU - Ramos, MD AU - Morlot, S AU - Tzetis, M AU - Oddoux, C AU - di Giovine, FS AU - Nasioulas, G AU - Chandler, D AU - Aseev, M AU - Hanson, M AU - Kalaydjieva, L AU - Glavac, D AU - Gasparini, P AU - Kanavakis, E AU - Claustres, M AU - Kambouris, M AU - Ostrer, H AU - Duff, G AU - Baranov, V AU - Sibul, H AU - Metspalu, A AU - Goldman, D AU - Martin, N AU - Duffy, D AU - Schmidtke, J AU - Estivill, X AU - O'Brien, SJ AU - Dean, M PY - 1998/06// UR - http://view.ncbi.nlm.nih.gov/pubmed/9585595 ER -