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Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans

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Author

  • Nabil Sabri Enattah
  • Aimee Trudeau
  • Ville Pimenoff
  • Luigi Maiuri
  • Salvatore Auricchio
  • Luigi Greco
  • Mauro Rossi
  • Michael Lentze
  • J. K. Seo
  • Soheila Rahgozar
  • Insaf Khalil
  • Michael Alifrangis
  • Sirajedin Natah
  • Leif Groop
  • Nael Shaat
  • Andrew Kozlov
  • Galina Verschubskaya
  • David Comas
  • Kazima Bulayeva
  • S. Qasim Mehdi
  • Joseph D. Terwilliger
  • Timo Sahi
  • Erkki Savilahti
  • Markus Perola
  • Antti Sajantila
  • Irma Jaervelae
  • Leena Peltonen
Show all

Summary, in English

A single-nucleotide variant, C/T-13910, located 14 kb upstream of the lactase gene (LCT), has been shown to be completely correlated with lactase persistence (LP) in northern Europeans. Here, we analyzed the background of the alleles carrying the critical variant in 1,611 DNA samples from 37 populations. Our data show that the T-13910 variant is found on two different, highly divergent haplotype backgrounds in the global populations. The first is the most common LP haplotype (LP H98) present in all populations analyzed, whereas the others (LP H8-H12), which originate from the same ancestral allelic haplotype, are found in geographically restricted populations living west of the Urals and north of the Caucasus. The global distribution pattern of LP T-13910 H98 supports the Caucasian origin of this allele. Age estimates based on different mathematical models show that the common LP T-13910 H98 allele (similar to 5,000-12,000 years old) is relatively older than the other geographically restricted LP alleles (similar to 1,400-3,000 years old). Our data about global allelic haplotypes of the lactose-tolerance variant imply that the T-13910 allele has been independently introduced more than once and that there is a still-ongoing process of convergent evolution of the LP alleles in humans.

Publishing year

2007

Language

English

Pages

615-625

Publication/Series

American Journal of Human Genetics

Volume

81

Issue

3

Document type

Journal article

Publisher

Cell Press

Topic

  • Medical Genetics

Status

Published

Research group

  • Genomics, Diabetes and Endocrinology

ISBN/ISSN/Other

  • ISSN: 0002-9297