title: Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans.
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 (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.
authors: Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland.
authors: Nabil Sabri
authors: NS
authors: Enattah
authors: Aimee
authors: A
authors: Trudeau
authors: Ville
authors: V
authors: Pimenoff
authors: Luigi
authors: L
authors: Maiuri
authors: Salvatore
authors: S
authors: Auricchio
authors: Luigi
authors: L
authors: Greco
authors: Mauro
authors: M
authors: Rossi
authors: Michael
authors: M
authors: Lentze
authors: J K
authors: JK
authors: Seo
authors: Soheila
authors: S
authors: Rahgozar
authors: Insaf
authors: I
authors: Khalil
authors: Michael
authors: M
authors: Alifrangis
authors: Sirajedin
authors: S
authors: Natah
authors: Leif
authors: L
authors: Groop
authors: Nael
authors: N
authors: Shaat
authors: Andrew
authors: A
authors: Kozlov
authors: Galina
authors: G
authors: Verschubskaya
authors: David
authors: D
authors: Comas
authors: Kazima
authors: K
authors: Bulayeva
authors: S Qasim
authors: SQ
authors: Mehdi
authors: Joseph D
authors: JD
authors: Terwilliger
authors: Timo
authors: T
authors: Sahi
authors: Erkki
authors: E
authors: Savilahti
authors: Markus
authors: M
authors: Perola
authors: Antti
authors: A
authors: Sajantila
authors: Irma
authors: I
authors: Järvelä
authors: Leena
authors: L
authors: Peltonen
mesh_terms: 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*
chemical_list: D043322:Lactase
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