Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans.
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.
Enattah
Nabil Sabri
NS
Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland.
Trudeau
Aimee
A
Pimenoff
Ville
V
Maiuri
Luigi
L
Auricchio
Salvatore
S
Greco
Luigi
L
Rossi
Mauro
M
Lentze
Michael
M
Seo
J K
JK
Rahgozar
Soheila
S
Khalil
Insaf
I
Alifrangis
Michael
M
Natah
Sirajedin
S
Groop
Leif
L
Shaat
Nael
N
Kozlov
Andrew
A
Verschubskaya
Galina
G
Comas
David
D
Bulayeva
Kazima
K
Mehdi
S Qasim
SQ
Terwilliger
Joseph D
JD
Sahi
Timo
T
Savilahti
Erkki
E
Perola
Markus
M
Sajantila
Antti
A
Järvelä
Irma
I
Peltonen
Leena
L
D000483:Alleles; D001483:Base Sequence; D019143:Evolution, Molecular; D005260:Female; D006239:Haplotypes; D006801:Humans; D043322:Lactase / Q000235:genetics*; D007787:Lactose Intolerance / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D011153:Population / Q000235:genetics*
D043322:Lactase
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