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Istituto di scienza dell'alimentazione

Torna all'elenco Contributi in rivista anno 2007

Contributo in rivista

Tipo: Articolo in rivista

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

Anno di pubblicazione: 2007

Formato: Elettronico Cartaceo

Autori: N S Enattah, A Trudeau, V Pimenoff, L Maiuri, S Auricchio, L Creco, M Rossi, M Lentze, J K Seo, S Rahgozar, I Khalil, M Alifrangis, S Natah, L Groop, N Shaat, A Kozlov, G Verschubskaya, D Comas, K Bulaeva, S Q Mehdi, J D Terwilliger, T Sahi, E Savilahti,

Affiliazioni autori: Department of Molecular Medicine, National Public Health Institute; Department of Medical Genetics, University of Helsinki, Biomedicum Helsinki, Finland (N.S.E.; A.T.; M.P.; L.P.); Department of Forensic Medicine, University of Helsinki, Helsinki, Finland (V.P.; A.S.); Department of Pediatrics, European Laboratory for Food Induced Diseases, University "Federico II", Naples, Italy (L.M.; S.A.; L.C.); Istituto di Scienze dell'Alimentazione, CNR, Avellino, Italy (M.R.) ; Department of Pediatrics, Children's Hospital, Medical Center, University of Bonn, Germany (M.L.); Department of Pediatrics, Seoul National University College of Medicine, Clinical Research Institute, Seoul National University Hospital, South Korea (J.K.S.); Blood Transfusion Center, Esfahan, Iran (S.R.); Panum Institute, Centre for Medical Parasitology, Institute of Medical Microbiology and Immunology, Copenhagen, Denmark (I.K.; M.A.); Department of Physiology, Biophysics and Medicine (GI division), Gastrointestinal research group, Health Sciences Center, University of Calgary, Alberta, Canada (S.N.); Department of Endocrinology, Malmö University Hospital, Sweden (L.G.; N.S.); ArcAn-C" Innovative Laboratory, Moscow, Russia (A.K.; G. V.); Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut de la Vida, Universitat Pompeu Fabra, Barcelona, Spain (D. C.) ; Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia (K.B.); Biomedical and Genetic Engineering Division, Dr A. Q. Khan Research Laboratories, Islamabad, Pakistan (S.Q.S.); Department of Psychiatry and Columbia Genome Center, Columbia University, NY, USA and Division of Medical Genetics, New York State Psychiatric Institute, NY, USA (J.D.T.), Department of Public Health, University of Helsinki, Finland (T.S.), Department of Pediatrics, Hospital for Children and Adolescents, Helsinki University Hospital, Helsinki (E.S.), HUSLAB, Laboratory of Molecular Genetics, Helsinki, Finland (I.J.)

Autori CNR:


Lingua: inglese

Abstract: A single nucleotide variant, C/T-13910, located 14 kb upstream from the lactase (LCT) gene has been shown to be completely correlated with lactase persistence (LP) in Northern Europeans. Here we analysed the allelic background of the alleles carrying the critical variant in 1611 DNA samples from 37 populations. Our data shows 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, originating from the same ancestral allelic haplotype (LP H8-H12) are found in geographically restricted populations living west of the Ural, north of the Caucasus. The global distribution pattern of the LP T-13910 H98 supports the Caucasian origin of this allele. Age estimates based on different mathematical models would evidence that the common LP T-13910 H98 allele (~ 5000-12000 years) is relatively older than the other geographically restricted LP alleles (~ 1400-3000 years). Our data of global allelic haplotypes of the lactose tolerance variant would imply that the T-13910 allele has been independently introduced more than once and there is a still ongoing process of convergent evolution of the LP alleles in humans.

Lingua abstract: inglese

Pagine da: 615

Pagine a: 625


American journal of human genetics University of Chicago Press [etc.]
Paese di pubblicazione: Stati Uniti d'America
Lingua: inglese
ISSN: 0002-9297

Numero volume: 81(3)

Strutture CNR:


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