World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection

• DOI: 10.1007/s00439-017-1847-y
• Publication Date: 2017-10-23T19:04:01Z
• Authors: Anke Liebert; Saioa López; Bryony Leigh Jones; Nicolas Montalva; Pascale Gerbault; Winston Lau; Mark G. Thomas; Neil Bradman; Nikolas Maniatis; Dallas M. Swallow
• Keywords: Lactase; Lactose Intolerance

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 the gene [−13910*T (rs4988235), −13907*G (rs41525747), −13915*G (rs41380347), −14009*G (rs869051967) and −14010*C (rs145946881)]. These alleles have been inferred to spread recently present-day frequencies attributed positive selection for ability adult humans digest lactose without risk symptoms intolerance. One inferential approaches used estimate level past has determine extent haplotype homozygosity (EHH) sequence surrounding SNP interest. We report here new data on known LP 'Old World' their lineages. examine confirm EHH each relation distinct lineages, but also show marked one older haplotypes that does not carry any alleles. this (B) exactly coincides suppressed recombination detectable families as well population data, results how such suppression may exaggerated haplotype-based measures selection.