TY - JOUR
T1 - Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans
AU - Enattah, Nabil Sabri
AU - Trudeau, Aimee
AU - Pimenoff, Ville
AU - Maiuri, Luigi
AU - Auricchio, Salvatore
AU - Greco, Luigi
AU - Rossi, Mauro
AU - Lentze, Michael
AU - Seo, J K
AU - Rahgozar, Soheila
AU - Khalil, Insaf
AU - Alifrangis, Michael
AU - Natah, Sirajedin
AU - Groop, Leif
AU - Shaat, Nael
AU - Kozlov, Andrew
AU - Verschubskaya, Galina
AU - Comas, David
AU - Bulayeva, Kazima
AU - Mehdi, S Qasim
AU - Terwilliger, Joseph D
AU - Sahi, Timo
AU - Savilahti, Erkki
AU - Perola, Markus
AU - Sajantila, Antti
AU - Järvelä, Irma
AU - Peltonen, Leena
N1 - Keywords: Alleles; Base Sequence; Evolution, Molecular; Female; Haplotypes; Humans; Lactase; Lactose Intolerance; Male; Molecular Sequence Data; Polymorphism, Single Nucleotide; Population
PY - 2007
Y1 - 2007
N2 - 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 (approximately 5,000-12,000 years old) is relatively older than the other geographically restricted LP alleles (approximately 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.
AB - 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 (approximately 5,000-12,000 years old) is relatively older than the other geographically restricted LP alleles (approximately 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.
U2 - 10.1086/520705
DO - 10.1086/520705
M3 - Journal article
C2 - 17701907
SN - 0002-9297
VL - 81
SP - 615
EP - 625
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 3
ER -