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

Nabil Sabri Enattah; Aimee Trudeau; Ville Pimenoff; Luigi Maiuri; Salvatore Auricchio; Luigi Greco; Mauro Rossi; Michael Lentze; J K Seo; Soheila Rahgozar; Insaf Khalil; Michael Alifrangis; Sirajedin Natah; Leif Groop; Nael Shaat; Andrew Kozlov; Galina Verschubskaya; David Comas; Kazima Bulayeva; S Qasim Mehdi; Joseph D Terwilliger; Timo Sahi; Erkki Savilahti; Markus Perola; Antti Sajantila; Irma Järvelä; Leena Peltonen

doi:10.1086/520705

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

Nabil Sabri Enattah, Aimee Trudeau, Ville Pimenoff, Luigi Maiuri, Salvatore Auricchio, Luigi Greco, Mauro Rossi, Michael Lentze, J K Seo, Soheila Rahgozar, Insaf Khalil, Michael Alifrangis, Sirajedin Natah, Leif Groop, Nael Shaat, Andrew Kozlov, Galina Verschubskaya, David Comas, Kazima Bulayeva, S Qasim MehdiJoseph D Terwilliger, Timo Sahi, Erkki Savilahti, Markus Perola, Antti Sajantila, Irma Järvelä, Leena Peltonen

104 Citations (Scopus)

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.

Original language	English
Journal	American Journal of Human Genetics
Volume	81
Issue number	3
Pages (from-to)	615-25
Number of pages	10
ISSN	0002-9297
DOIs	https://doi.org/10.1086/520705
Publication status	Published - 2007

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Enattah, N. S., Trudeau, A., Pimenoff, V., Maiuri, L., Auricchio, S., Greco, L., Rossi, M., Lentze, M., Seo, J. K., Rahgozar, S., Khalil, I., Alifrangis, M., Natah, S., Groop, L., Shaat, N., Kozlov, A., Verschubskaya, G., Comas, D., Bulayeva, K., ... Peltonen, L. (2007). Evidence of still-ongoing convergence evolution of the lactase persistence T_-13910 alleles in humans. American Journal of Human Genetics, 81(3), 615-25. https://doi.org/10.1086/520705

Enattah, NS, Trudeau, A, Pimenoff, V, Maiuri, L, Auricchio, S, Greco, L, Rossi, M, Lentze, M, Seo, JK, Rahgozar, S, Khalil, I, Alifrangis, M, Natah, S, Groop, L, Shaat, N, Kozlov, A, Verschubskaya, G, Comas, D, Bulayeva, K, Mehdi, SQ, Terwilliger, JD, Sahi, T, Savilahti, E, Perola, M, Sajantila, A, Järvelä, I & Peltonen, L 2007, 'Evidence of still-ongoing convergence evolution of the lactase persistence T_-13910 alleles in humans', American Journal of Human Genetics, vol. 81, no. 3, pp. 615-25. https://doi.org/10.1086/520705

@article{a4d11fa0a99611ddb5e9000ea68e967b,

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.",

author = "Enattah, {Nabil Sabri} and Aimee Trudeau and Ville Pimenoff and Luigi Maiuri and Salvatore Auricchio and Luigi Greco and Mauro Rossi and Michael Lentze and Seo, {J K} and Soheila Rahgozar and Insaf Khalil and Michael Alifrangis and Sirajedin Natah and Leif Groop and Nael Shaat and Andrew Kozlov and Galina Verschubskaya and David Comas and Kazima Bulayeva and Mehdi, {S Qasim} and Terwilliger, {Joseph D} and Timo Sahi and Erkki Savilahti and Markus Perola and Antti Sajantila and Irma J{\"a}rvel{\"a} and Leena Peltonen",

note = "Keywords: Alleles; Base Sequence; Evolution, Molecular; Female; Haplotypes; Humans; Lactase; Lactose Intolerance; Male; Molecular Sequence Data; Polymorphism, Single Nucleotide; Population",

year = "2007",

doi = "10.1086/520705",

language = "English",

volume = "81",

pages = "615--25",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "3",

}

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 -

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

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