Stronger signal of recent selection for lactase persistence in maasai than in europeans

European Journal of Human Genetics

Volumn 21, Issue 5, 2013, Pages 550-553

  Schlebusch, Carina M ^a   Sjodin, Per ^a   Skoglund, Pontus ^a   Jakobsson, Mattias ^a,b  

^a UPPSALA UNIVERSITY   (Sweden)

^b UPPSALA UNIVERSITY   (Sweden)

Author keywords

East Africa; Lactase persistence; Maasai; Pastoralism; Selection

Indexed keywords

LACTASE; MINICHROMOSOME MAINTENANCE PROTEIN 6;

ARTICLE; CHIMPANZEE; EFFECTIVE POPULATION SIZE; GENE; GENETIC ASSOCIATION; GENETIC DRIFT; GENETIC SELECTION; GENETIC VARIABILITY; GENOME; GENOTYPE; HAPLOTYPE; HAPLOTYPE MAP; HUMAN; KENYA; NONHUMAN; PHENOTYPE; POPULATION DIFFERENTIATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

AFRICAN CONTINENTAL ANCESTRY GROUP; ETHNIC GROUPS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HAPLOTYPES; HUMANS; KENYA; LACTASE; POLYMORPHISM, SINGLE NUCLEOTIDE; SELECTION, GENETIC;

EID: 84876692673     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.199     Document Type: Article

References (27)

1. Ingram CJ, Mulcare CA, Itan Y, Thomas MG, Swallow DM: Lactose digestion and the evolutionary genetics of lactase persistence. Hum Genet 2009; 124: 579-591.
2. Ingram CJ, Raga TO, Tarekegn A et al: Multiple rare variants as a cause of a common phenotype: several different lactase persistence associated alleles in a single ethnic group. J Mol Evol 2009; 69: 579-588.
3. Swallow DM: Genetics of lactase persistence and lactose intolerance. Annu Rev Genet 2003; 37: 197-219. (Pubitemid 38041425)
4. Enattah NS, Jensen TG, Nielsen M et al: Independent introduction of two lactasepersistence alleles into human populations reflects different history of adaptation to milk culture. Am J Hum Genet 2008; 82: 57-72. (Pubitemid 351735951)
5. Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Jarvela I: Identification of a variant associated with adult-type hypolactasia. Nat Genet 2002; 30: 233-237.
6. Enattah NS, Trudeau A, Pimenoff V et al: Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans. Am J Hum Genet 2007; 81: 615-625. (Pubitemid 47330220)
7. Tishkoff SA, Reed FA, Ranciaro A et al: Convergent adaptation of human lactase persistence in Africa and Europe. Nat Genet 2007; 39: 31-40. (Pubitemid 46026499)
8. Bersaglieri T, Sabeti PC, Patterson N et al: Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet 2004; 74: 1111-1120. (Pubitemid 38669310)
9. Poulter M, Hollox E, Harvey CB et al: The causal element for the lactase persistence/ non-persistence polymorphism is located in a 1 Mb region of linkage disequilibrium in Europeans. Ann Hum Genet 2003; 67: 298-311. (Pubitemid 38312835)
10. The International Haplotype Map Project. A haplotype map of the human genome. Nature 2005; 437: 1299-1320.
11. Itan Y, Jones BL, Ingram CJ, Swallow DM, Thomas MG: A worldwide correlation of lactase persistence phenotype and genotypes. BMC Evol Biol 2010; 10: 36.
12. Mulcare CA, Weale ME, Jones AL et al: The T allele of a single-nucleotide polymorphism 13.9 kb upstream of the lactase gene (LCT) (C-13.9kbT) does not predict or cause the lactase-persistence phenotype in Africans. Am J Hum Genet 2004; 74: 1102-1110. (Pubitemid 38669309)
13. Voight BF, Kudaravalli S, Wen X, Pritchard JK: A map of recent positive selection in the human genome. PLoS Biol 2006; 4: e72.
14. Jakobsson M, Scholz SW, Scheet P et al: Genotype, haplotype and copy-number variation in worldwide human populations. Nature 2008; 451: 998-1003. (Pubitemid 351301742)
15. Jensen TG, Liebert A, Lewinsky R, Swallow DM, Olsen J, Troelsen JT: The 14010*C variant associated with lactase persistence is located between an Oct-1 and HNF1alpha binding site and increases lactase promoter activity. Hum Genet 2011; 130: 483-493.
16. Lewinsky RH, Jensen TG, Moller J, Stensballe A, Olsen J, Troelsen JT: T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro. Hum Mol Genet 2005; 14: 3945-3953. (Pubitemid 43020095)
17. Olds LC, Sibley E: Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element. Hum Mol Genet 2003; 12: 2333-2340. (Pubitemid 37160877)
18. Altshuler DM, Gibbs RA, Peltonen L et al: Integrating common and rare genetic variation in diverse human populations. Nature 2010; 467: 52-58.
19. The Chimpanzee Sequencing and Analysis Consortium. Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 2005; 437: 69-87.
20. Schuster SC, Miller W, Ratan A et al: Complete Khoisan and Bantu genomes from southern Africa. Nature 2010; 463: 943-947.
21. Yi X, Liang Y, Huerta-Sanchez E et al: Sequencing of 50 human exomes reveals adaptation to high altitude. Science 2010; 329: 75-78.
22. Weir BS, Cockerham CC: Estimating F-statistics for the analysis of population structure. Evolution 1984; 38: 1358-1370. (Pubitemid 16277759)
23. Bandelt HJ, Forster P, Rohl A: Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol 1999; 16: 37-48. (Pubitemid 29024937)
24. Polzin T, Daneschmand SV: On Steiner trees and minimum spanning trees in hypergraphs. Operations Res Lett 2003; 31: 12-20. (Pubitemid 35432900)
25. Agriculture and Consumer Protection. Nutritional importance of traditional milk products in the national diet. The technology of traditional milk products in developing countries: http://www.fao.org/docrep/003/t0251e/ T0251E07.htm, Food and Agricultural Organization of the United Nations.
26. Kerven C: Some research and development implications for pastoral dairy production in Africa. ILCA Bulletin 1987; 26: 29-35.
27. Anagnostou P, Battaggia C, Coia V et al: Tracing the distribution and evolution of lactase persistence in Southern Europe through the study of the T(-13910) variant. Am J Hum Biol 2009; 21: 217-219.