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

Enattah, Nabil Sabri; Trudeau, Aimee; Pimenoff, Ville; Maiuri, Luigi; Auricchio, Salvatore; Greco, Luigi; Rossi, Mauro; Lentze, Michael; Seo, J. K. and Rahgozar, Soheila, et al. (2007) In American Journal of Human Genetics 81(3). p.615-625
Abstract
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... (More)
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. (Less)
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American Journal of Human Genetics
volume
81
issue
3
pages
615 - 625
publisher
Cell Press
external identifiers
  • wos:000249128200018
  • scopus:34548287518
ISSN
0002-9297
DOI
10.1086/520705
language
English
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yes
id
471a168a-80e5-4e0c-8c90-b825d386b3c5 (old id 689709)
date added to LUP
2007-12-07 15:25:33
date last changed
2017-11-05 03:28:02
@article{471a168a-80e5-4e0c-8c90-b825d386b3c5,
  abstract     = {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.},
  author       = {Enattah, Nabil Sabri and Trudeau, Aimee and Pimenoff, Ville and Maiuri, Luigi and Auricchio, Salvatore and Greco, Luigi and Rossi, Mauro and Lentze, Michael and Seo, J. K. and Rahgozar, Soheila and Khalil, Insaf and Alifrangis, Michael and Natah, Sirajedin and Groop, Leif and Shaat, Nael and Kozlov, Andrew and Verschubskaya, Galina and Comas, David and Bulayeva, Kazima and Mehdi, S. Qasim and Terwilliger, Joseph D. and Sahi, Timo and Savilahti, Erkki and Perola, Markus and Sajantila, Antti and Jaervelae, Irma and Peltonen, Leena},
  issn         = {0002-9297},
  language     = {eng},
  number       = {3},
  pages        = {615--625},
  publisher    = {Cell Press},
  series       = {American Journal of Human Genetics},
  title        = {Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans},
  url          = {http://dx.doi.org/10.1086/520705},
  volume       = {81},
  year         = {2007},
}