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Microsatellite variation and evolution of human lactase persistence

The levels of haplotype diversity within the lineages defined by two single-nucleotide polymorphisms (SNPs) (−13910 C/T and −22018 G/A) associated with human lactase persistence were assessed with four fast-evolving microsatellite loci in 794 chromosomes from Portugal, Italy, Fulbe from Cameroon, São Tomé and Mozambique. Age estimates based on the intraallelic microsatellite variation indicate that the −13910*T allele, which is more tightly associated with lactase persistence, originated in Eurasia before the Neolithic and after the emergence of modern humans outside Africa. We detected significant departures from neutrality for the −13910*T variant in geographically and evolutionary distant populations from southern Europe (Portuguese and Italians) and Africa (Fulbe) by using a neutrality test based on the congruence between the frequency of the allele and the levels of intraallelic variability measured by the number of mutations in adjacent microsatellites. This result supports the role of selection in the evolution of lactase persistence, ruling out possible confounding effects from recombination suppression and population history. Reevaluation of the available evidence on variation of the −13910 and −22018 loci indicates that lactase persistence probably originated from different mutations in Europe and most of Africa, even if 13910*T is not the causal allele, suggesting that selective pressure could have promoted the convergent evolution of the trait. Our study shows that a limited number of microsatellite loci may provide sufficient resolution to reconstruct key aspects of the evolutionary history of lactase persistence, providing an alternative to approaches based on large numbers of SNPs.

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• Aoki K (2001) Theoretical and empirical aspects of gene-culture coevolution. Theor Popul Biol 59:253–261

  Article  CAS  PubMed  Google Scholar 

• Bandelt H-J, Forster P, Röhl A (1999) Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol 16:37–48

  CAS  PubMed  Google Scholar 

• Bayless TM (1971) Junior, why didn’t you drink your milk?. Gastroenterology 60:479–480

  Google Scholar 

• Behar DM, Thomas MG, Skorecki K, Hammer MF, Bulygina E, Rosengarten D, Jones AL, Held K, Moses V, Goldstein D, Bradman N, Weale ME (2003) Multiple origins of Ashkenazi Levites: Y chromosome evidence for both Near Eastern and European ancestries. Am J Hum Genet 73:768–779

  Google Scholar 

• Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE and Hirschhorn JN (2004) Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet 74:1111–1120

  Google Scholar 

• Enattah NS, Sahi T, Savilahti E, Terwilliger JS, Peltonen L, Järvelä I (2002) Identification of a variant associated with adult-type hypolactasia. Nat Genet 30:233–237

  Article  CAS  PubMed  Google Scholar 

• Flatz G (1987) Genetics of lactose digestion in humans. Adv Hum Genet 16:1–77

  CAS  PubMed  Google Scholar 

• Goldstein DB, Reich DE, Bradman N, Usher S, Seligsohn U, Peretz H (1999) Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews. Am J Hum Genet 64:1071–1075

  Google Scholar 

• Holden C, Mace R (1997) Phylogenetic analysis of the evolution of lactose digestion in adults. Hum Biol 69:605–628

  CAS  PubMed  Google Scholar 

• Hollox E (2004) Genetics of lactase persistence-fresh lessons in the history of milk drinking. Eur J Hum Genet 13:267–269

  Article  Google Scholar 

• Klein RG (2000) Archeology and the evolution of human behavior. Evol Anthropol 9:17–36

  Article  Google Scholar 

• Kong A, Gudbjartsson DF, Sainz J, Jonsdottir GM, Gudjonsson SA, Richardsson B, Sigurdardottir S, Barnard J, Hallbeck B, Masson G, Shlien A, Palsson ST, Frigge ML, Thorgeirsson TE, Gulcher JR, Stefansson K (2002) A high-resolution recombination map of the human genome. Nat Genet 31:241–247

  CAS  PubMed  Google Scholar 

• Kretchmer N (1972) Lactose and lactase. Sci Am 227:70–78

  CAS  Google Scholar 

• Kruglyak L (1999) Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat Genet 22:139–144

  Article  CAS  PubMed  Google Scholar 

• Marjoram P, Donnelly P (1994) Pairwise comparisons of mitochondrial DNA sequences in subdivided populations and implications for early human evolution. Genetics 136:673–683

  CAS  PubMed  Google Scholar 

• McCracken RD (1971) Lactase deficiency: an example of dietary evolution. Curr Anthropol 12:479–517

  Article  Google Scholar 

• Midgley MS (1992) TRB culture: the first farmers of the North European plain. Edinburgh University Press, Edinburgh

  Google Scholar 

• Mulcare CA, Weale ME, Jones AL, Connell B, Zeitlyn D, Tarekegn A, Swallow DM, Bradman N, Thomas MG (2004) 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 74:1102–1110

  Google Scholar 

• Nei M, Saitou N (1986) Genetic relationship of human populations and ethnic differences in relation to drugs and food. In: Kalow W, Goedde HW, Agarwal DP (eds) Ethnic differences in reactions to drugs and other xenobiotics. Alan L Riss, New York, pp 21–37

  Google Scholar 

• Pluzhnikov A, Di Rienzo A, Hudson R (2002) Inferences about human demography based on multilocus analyses of noncoding sequences. Genetics 161:1209–1218

  PubMed  Google Scholar 

• Poulter M, Hollox E, Harvey CB, Mulcare C, Peuhkuri K, Kajander K, Sarner M, Korpela R, Swallow DM (2003) 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 67:298–311

  Article  CAS  PubMed  Google Scholar 

• Pritchard JK, Seielstad MT, Pérez-Lezaun A, Feldman MW (1999) Population growth of human Y chromosomes: a study of Y chromosome microsatellites. Mol Biol Evol 16:1791–1798

  CAS  PubMed  Google Scholar 

• Raymond M, Rousset F (1995) An exact test for population diferentiation. Evolution 49:1280–1281

  Google Scholar 

• Reich DE, Goldstein DB (1999) Estimating the age of mutations using the variation at linked markers. In: Goldstein DB, Schlötterer C (eds) Microsatellites: evolution and applications. Oxford Unviversity Press, Oxford, pp 129–138

  Google Scholar 

• Relethford JH (2001) Genetics and the search for modern human origins. Wiley, New York

  Google Scholar 

• Rogers AR, Harpending H (1992) Population growth makes waves in the distribution of pairwise genetic differences. Mol Biol Evol 9:552–569

  CAS  PubMed  Google Scholar 

• Salas A, Richards M, De La Fe T, Lareu MV, Sobrino B, Sánchez-Diz P, Macaulay V, Carracedo A (2002) The making of the African mtDNA landscape. Am J Hum Genet 71:1082–1111

  Google Scholar 

• Schneider S, Roessli D, Excoffier L (2000) Arlequim, ver. 2.000: a software for population genetics data analysis. University of Geneva, Geneva

• Seixas S, Garcia O, Trovoada MJ, Santos MT, Amorim A, Rocha J (2001) Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the alpha1-antitrypsin polymorphism. Hum Genet 108:20–30

  Article  CAS  PubMed  Google Scholar 

• Simoons FJ (1970) Primary adult lactose intolerance and the milking habit: a problem in biological and cultural interrelations. II. A culture historical hypothesis. Am J Dig Dis 15:695–710

  CAS  PubMed  Google Scholar 

• Slatkin M (2002) The age of alleles. In: Slatkin M, Veuille M (eds) Modern developments in theoretical population genetics: the legacy of Gustave Malécot. Oxford University Press, New York, pp 233–260

  Google Scholar 

• Slatkin M, Bertorelle G (2001) The use of intraallelic variability for testing neutrality and estimating population growth rate. Genetics 158:865–874

  CAS  PubMed  Google Scholar 

• Slatkin M, Rannala B (2000) Estimating allele age. Annu Rev Genomics Hum Genet 1:225–249

  Article  CAS  PubMed  Google Scholar 

• Spedini G, Destro-Bisol G, Mondovi S, Kaptué L, Taglioli L, Paoli G (1999) The peopling of sub-Saharian Africa: the case study of Cameroon. Am J Phys Anthropol 110:143–162

  Article  CAS  PubMed  Google Scholar 

• Stephens M, Donnelly P (2003) A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73:1162–1169

  Google Scholar 

• Stephens M, Smith N, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978–989

  Article  CAS  PubMed  Google Scholar 

• Stumpf MPH, Goldstein DB (2001) Genealogical and evolutionary inference with the human Y chromosome. Science 291:1738–1742

  Article  CAS  PubMed  Google Scholar 

• Swallow DM (2003) Genetics of lactase persistence and lactose intolerance. Annu Rev Genet 37:197–219

  Article  CAS  PubMed  Google Scholar 

• Takahata N (1993) Allelic genealogy and human evolution. Mol Biol Evol 10:2–22

  CAS  PubMed  Google Scholar 

• Tomás G, Seco L, Seixas S, Faustino P, Lavinha J, Rocha J (2002) The peopling of São Tomé (Gulf of Guinea): origins of slave settlers and admixture with the Portuguese. Hum Biol 74:397–411

  PubMed  Google Scholar 

• Wall JD, Przeworski M (2000) When did the human population size start increasing?. Genetics 155:1865–1874

  CAS  PubMed  Google Scholar 

• Weber JL, Wong C (1993) Mutation of human short tandem repeats. Hum Mol Genet 2:1123–1128

  CAS  PubMed  Google Scholar 

• Xu H, Fu Y (2004) Estimating effective population size or mutation rate with microsatellites. Genetics 166:555–563

  Article  CAS  PubMed  Google Scholar 

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We thank Luís Pedro Resende and Cinzia Battaggia for assistance in typing the Portuguese and Italian samples, respectively. We are also grateful to Gabriella Spedini for the Fulbe DNA samples and to António Prista and Sílvio Saranga for the Mozambique samples. We thank Eduardo Tarazona-Santos and Nuno Ferrand for comments on the manuscript. This research was supported by the Sociedade Portuguesa de Gastrenterologia and by the Fundação para a Ciência e a Tecnologia (grants POCTI/42510/ANT/2001 and POCTI/BIA-BDE/56654/2004). D.L. and G.D.B. were supported by the M.I.U.R. (grant numbers 2003054059 and 2005058414).

1. Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), R. Dr. Roberto Frias s/n, 4200-465, Porto, Portugal

   Margarida Coelho, Susana Seixas & Jorge Rocha

2. Departamento de Zoologia Antropologia, Faculdade de Ciências, Universidade do Porto, Porto, Portugal

   Margarida Coelho & Jorge Rocha

3. Dipartimento di Biologia Evoluzionistica Sperimentale, Universita di Bologna, Bologna, Italia

   Donata Luiselli

4. Sezione di Biologia Evolutiva, Dipartimento di Biologia, Universitá di Ferrara, Ferrara, Italia

   Giorgio Bertorelle

5. Unidade de Gastrenterologia Pediátrica, Hospital de Santa Maria, Lisbon, Portugal

   Ana Isabel Lopes

6. Dipartimento di Biologia Animale e dell’ Uomo, Universitá “La Sapienza”, Rome, Italy

   Giovanni Destro-Bisol

7. Istituto Italiano di Antropologia, Rome, Italy

   Giovanni Destro-Bisol

1. Margarida Coelho
2. Donata Luiselli
3. Giorgio Bertorelle
4. Ana Isabel Lopes
5. Susana Seixas
6. Giovanni Destro-Bisol
7. Jorge Rocha

Correspondence to Jorge Rocha.

Coelho, M., Luiselli, D., Bertorelle, G. et al. Microsatellite variation and evolution of human lactase persistence. Hum Genet 117, 329–339 (2005). https://doi.org/10.1007/s00439-005-1322-z

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• Received: 19 January 2005

• Accepted: 08 April 2005

• Published: 01 June 2005

• Issue Date: August 2005

• DOI: https://doi.org/10.1007/s00439-005-1322-z

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