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World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection.
Liebert, Anke; López, Saioa; Jones, Bryony Leigh; Montalva, Nicolas; Gerbault, Pascale; Lau, Winston; Thomas, Mark G; Bradman, Neil; Maniatis, Nikolas; Swallow, Dallas M.
Affiliation
  • Liebert A; Research Department of Genetics, Evolution and Environment, University College London, Darwin Building, Gower Street, London, WC1E 6BT, UK.
  • López S; Department of Paediatrics, University of Cambridge, Box 116, Level 8, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
  • Jones BL; Research Department of Genetics, Evolution and Environment, University College London, Darwin Building, Gower Street, London, WC1E 6BT, UK.
  • Montalva N; Research Department of Genetics, Evolution and Environment, University College London, Darwin Building, Gower Street, London, WC1E 6BT, UK.
  • Gerbault P; Research Department of Genetics, Evolution and Environment, University College London, Darwin Building, Gower Street, London, WC1E 6BT, UK.
  • Lau W; UCL Department of Anthropology, Human Evolutionary Ecology Group, University College London, 14 Taviton Street, London, WC1H 0BW, UK.
  • Thomas MG; Departmento de Antropología, Facultad de Ciencias Sociales y Jurídicas, Universidad de Tarapacá, 384 Calle Cardenal Caro, Arica, Chile.
  • Bradman N; Research Department of Genetics, Evolution and Environment, University College London, Darwin Building, Gower Street, London, WC1E 6BT, UK.
  • Maniatis N; Department of Life Sciences, Faculty of Science and Technology, University of Westminster, 115 New Cavendish Street, London, W1W 6UW, UK.
  • Swallow DM; Research Department of Genetics, Evolution and Environment, University College London, Darwin Building, Gower Street, London, WC1E 6BT, UK.
Hum Genet ; 136(11-12): 1445-1453, 2017 11.
Article in En | MEDLINE | ID: mdl-29063188
ABSTRACT
The genetic trait of lactase persistence (LP) is associated with at least five independent functional single nucleotide variants in a regulatory region about 14 kb upstream of the lactase gene [-13910*T (rs4988235), -13907*G (rs41525747), -13915*G (rs41380347), -14009*G (rs869051967) and -14010*C (rs145946881)]. These alleles have been inferred to have spread recently and present-day frequencies have been attributed to positive selection for the ability of adult humans to digest lactose without risk of symptoms of lactose intolerance. One of the inferential approaches used to estimate the level of past selection has been to determine the extent of haplotype homozygosity (EHH) of the sequence surrounding the SNP of interest. We report here new data on the frequencies of the known LP alleles in the 'Old World' and their haplotype lineages. We examine and confirm EHH of each of the LP alleles in relation to their distinct lineages, but also show marked EHH for one of the older haplotypes that does not carry any of the five LP alleles. The region of EHH of this (B) haplotype exactly coincides with a region of suppressed recombination that is detectable in families as well as in population data, and the results show how such suppression may have exaggerated haplotype-based measures of past selection.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Recombination, Genetic / Selection, Genetic / Haplotypes / Polymorphism, Single Nucleotide / Lactase / Lactose Intolerance Limits: Adult / Humans Language: En Journal: Hum Genet Year: 2017 Document type: Article Affiliation country: United kingdom Publication country: ALEMANHA / ALEMANIA / DE / DEUSTCHLAND / GERMANY
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Recombination, Genetic / Selection, Genetic / Haplotypes / Polymorphism, Single Nucleotide / Lactase / Lactose Intolerance Limits: Adult / Humans Language: En Journal: Hum Genet Year: 2017 Document type: Article Affiliation country: United kingdom Publication country: ALEMANHA / ALEMANIA / DE / DEUSTCHLAND / GERMANY