New insights into the history of the C-14010 lactase persistence variant in Eastern and Southern Africa.

作者: Enrico Macholdt , Montgomery Slatkin , Brigitte Pakendorf , Mark Stoneking

DOI: 10.1002/AJPA.22675

关键词: Human migrationHaplotypeXhosaLactase persistenceLactaseBiologyGeneticsEvolutionary biologyAllelePastoralismMicrosatellite

摘要: Lactase persistence (LP), the ability to digest lactose into adulthood, is strongly associated with cultural traits of pastoralism and milk-drinking among human populations, several different genetic variants are known that confer LP. Recent studies LP in Southern African a focus on Khoisan-speaking groups, found high frequencies an variant (the C-14010 allele) also occurs Eastern Africa, concluded allele was brought Africa via migration pastoralists from Africa. However, this conclusion based indirect evidence; date no study has jointly analyzed data both groups Here, we combine analyze published consisting haplotypes four closely-linked short tandem repeat (STR) loci. Our results provide direct evidence for previously-hypothesized origin groups. In addition, find separate introduction Bantu-speaking Xhosa. The estimated selection intensity lower than which suggests dietary changes conferring fitness advantage occurred some time after allele. Conversely, present when introduced, as would be expected if introduced concomitantly.

参考文章(20)
Chiara Barbieri, Tom Güldemann, Christfried Naumann, Linda Gerlach, Falko Berthold, Hirosi Nakagawa, Sununguko W. Mpoloka, Mark Stoneking, Brigitte Pakendorf, Unraveling the complex maternal history of Southern African Khoisan populations American Journal of Physical Anthropology. ,vol. 153, pp. 435- 448 ,(2014) , 10.1002/AJPA.22441
Tom Güldemann, A linguist's view: Khoe-Kwadi speakers as the earliest food-producers of southern Africa Southern African Humanities. ,vol. 20, pp. 93- 132 ,(2008)
Alessia Ranciaro, Michael C. Campbell, Jibril B. Hirbo, Wen-Ya Ko, Alain Froment, Paolo Anagnostou, Maritha J. Kotze, Muntaser Ibrahim, Thomas Nyambo, Sabah A. Omar, Sarah A. Tishkoff, Genetic origins of lactase persistence and the spread of pastoralism in Africa. American Journal of Human Genetics. ,vol. 94, pp. 496- 510 ,(2014) , 10.1016/J.AJHG.2014.02.009
Gwenna Breton, Carina M. Schlebusch, Marlize Lombard, Per Sjödin, Himla Soodyall, Mattias Jakobsson, Lactase Persistence Alleles Reveal Partial East African Ancestry of Southern African Khoe Pastoralists Current Biology. ,vol. 24, pp. 852- 858 ,(2014) , 10.1016/J.CUB.2014.02.041
Enrico Macholdt, Vera Lede, Chiara Barbieri, Sununguko W. Mpoloka, Hua Chen, Montgomery Slatkin, Brigitte Pakendorf, Mark Stoneking, Tracing Pastoralist Migrations to Southern Africa with Lactase Persistence Alleles Current Biology. ,vol. 24, pp. 875- 879 ,(2014) , 10.1016/J.CUB.2014.03.027
David Pleurdeau, Emma Imalwa, Florent Détroit, Joséphine Lesur, Anzel Veldman, Jean-Jacques Bahain, Eugène Marais, “Of Sheep and Men”: Earliest Direct Evidence of Caprine Domestication in Southern Africa at Leopard Cave (Erongo, Namibia) PLoS ONE. ,vol. 7, pp. e40340- ,(2012) , 10.1371/JOURNAL.PONE.0040340
Bryony L. Jones, Tamiru O. Raga, Anke Liebert, Pawel Zmarz, Endashaw Bekele, E. Thomas Danielsen, Anders Krüger Olsen, Neil Bradman, Jesper T. Troelsen, Dallas M. Swallow, Diversity of lactase persistence alleles in Ethiopia: signature of a soft selective sweep. American Journal of Human Genetics. ,vol. 93, pp. 538- 544 ,(2013) , 10.1016/J.AJHG.2013.07.008
Matthew Stephens, Paul Scheet, Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation American Journal of Human Genetics. ,vol. 76, pp. 449- 462 ,(2005) , 10.1086/428594
Tine G. K. Jensen, Anke Liebert, Rikke Lewinsky, Dallas M. Swallow, Jørgen Olsen, Jesper T. Troelsen, The −14010*C variant associated with lactase persistence is located between an Oct-1 and HNF1α binding site and increases lactase promoter activity Human Genetics. ,vol. 130, pp. 483- 493 ,(2011) , 10.1007/S00439-011-0966-0
H. J. Bandelt, P. Forster, A. Rohl, Median-joining networks for inferring intraspecific phylogenies. Molecular Biology and Evolution. ,vol. 16, pp. 37- 48 ,(1999) , 10.1093/OXFORDJOURNALS.MOLBEV.A026036