Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/689709
- author
- Enattah, Nabil Sabri
; Trudeau, Aimee
; Pimenoff, Ville
; Maiuri, Luigi
; Auricchio, Salvatore
; Greco, Luigi
; Rossi, Mauro
; Lentze, Michael
; Seo, J. K.
; Rahgozar, Soheila
; Khalil, Insaf
; Alifrangis, Michael
; Natah, Sirajedin
; Groop, Leif
LU
; Shaat, Nael
LU
; Kozlov, Andrew
; Verschubskaya, Galina
; Comas, David
; Bulayeva, Kazima
; Mehdi, S. Qasim
; Terwilliger, Joseph D.
; Sahi, Timo
; Savilahti, Erkki
; Perola, Markus
; Sajantila, Antti
; Jaervelae, Irma
and Peltonen, Leena
(Less) - organization
- publishing date
- 2007
- type
- Contribution to journal
- publication status
- published
- subject
- in
- American Journal of Human Genetics
- volume
- 81
- issue
- 3
- pages
- 615 - 625
- publisher
- Cell Press
- external identifiers
-
- wos:000249128200018
- scopus:34548287518
- pmid:17701907
- ISSN
- 0002-9297
- DOI
- 10.1086/520705
- language
- English
- LU publication?
- yes
- id
- 471a168a-80e5-4e0c-8c90-b825d386b3c5 (old id 689709)
- date added to LUP
- 2016-04-01 11:35:26
- date last changed
- 2024-01-07 13:14:16
@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}},
doi = {{10.1086/520705}},
volume = {{81}},
year = {{2007}},
}