Evidence of Still‐Ongoing Convergence Evolution of the Lactase Persistence T‐13910 Alleles in Humans Export

@article{Enattah2007a, 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 (5,000–12,000 years old) is relatively older than the other geographically restricted LP alleles (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 S. 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, Qasim S. and Terwilliger, Joseph D. and Sahi, Timo and Savilahti, Erkki and Perola, Markus and Sajantila, Antti and J\"{a}rvel\"{a}, Irma and Peltonen, Leena}, citeulike-article-id = {2210927}, citeulike-linkout-0 = {http://www.journals.uchicago.edu/doi/abs/10.1086/520705}, journal = {The American Journal of Human Genetics}, keywords = {adaptation, lactase, to-get, to-review}, pages = {615--625}, posted-at = {2008-01-09 13:21:37}, priority = {2}, title = {Evidence of Still‐Ongoing Convergence Evolution of the Lactase Persistence T‐13910 Alleles in Humans}, url = {http://www.journals.uchicago.edu/doi/abs/10.1086/520705}, volume = {81}, year = {2007} }

TY - JOUR ID - Enattah2007a L3 - citeulike-article-id:2210927 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 (5,000–12,000 years old) is relatively older than the other geographically restricted LP alleles (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. JF - The American Journal of Human Genetics EP - 625 TI - Evidence of Still‐Ongoing Convergence Evolution of the Lactase Persistence T‐13910 Alleles in Humans VL - 81 SP - 615 KW - adaptation KW - lactase KW - to-get KW - to-review AU - Enattah, Nabil AU - Trudeau, Aimee AU - Pimenoff, Ville AU - Maiuri, Luigi AU - Auricchio, Salvatore AU - Greco, Luigi AU - Rossi, Mauro AU - Lentze, Michael AU - Seo, JK 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, Qasim AU - Terwilliger, Joseph AU - Sahi, Timo AU - Savilahti, Erkki AU - Perola, Markus AU - Sajantila, Antti AU - Järvelä, Irma AU - Peltonen, Leena PY - 2007/// UR - http://www.journals.uchicago.edu/doi/abs/10.1086/520705 ER -