ArticleHuman genetics2005
Microsatellite variation and evolution of human lactase persistence.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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44 citing papers in PubMed, 118 citations in OpenAlex.
- The molecular basis of lactase persistence: Linking genetics and epigenetics.Annals of human genetics · 2025Review
- Versatile Detection of Diverse Selective Sweeps with Flex-Sweep.Molecular biology and evolution · 2023Article
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- Article
- A genomic perspective on HLA evolution.Immunogenetics · 2018Review
- World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection.Human genetics · 2017Article
- The lactase -13910C>T polymorphism (rs4988235) is associated with overweight/obesity and obesity-related variables in a population sample of Portuguese young adults.European journal of clinical nutrition · 2017Article
- Lactase persistence in Tunisia as a result of admixture with other Mediterranean populations.Genes & nutrition · 2017Article
- High osteoporosis risk among East Africans linked to lactase persistence genotype.BoneKEy reports · 2016Article
- Motif mismatches in microsatellites: insights from genome-wide investigation among 20 insect species.DNA research : an international journal for rapid publication of reports on genes and genomes · 2015Article
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- Genetic variation and adaptation in Africa: implications for human evolution and disease.Cold Spring Harbor perspectives in biology · 2014Review
- Tracing pastoralist migrations to southern Africa with lactase persistence alleles.Current biology : CB · 2014Article
- Genetic origins of lactase persistence and the spread of pastoralism in Africa.American journal of human genetics · 2014Article
- Latitude, sunshine, and human lactase phenotype distributions may contribute to geographic patterns of modern disease: the inflammatory bowel disease model.Clinical epidemiology · 2014Article
- Ancient DNA analysis reveals high frequency of European lactase persistence allele (T-13910) in medieval central europe.PloS one · 2014Article
- Analysis of Gln223Agr polymorphism of Leptin Receptor Gene in type II diabetic mellitus subjects among Malaysians.International journal of molecular sciences · 2013Article
- Diversity of lactase persistence alleles in Ethiopia: signature of a soft selective sweep.American journal of human genetics · 2013Article
- Lactose malabsorption and intolerance: pathogenesis, diagnosis and treatment.United European gastroenterology journal · 2013Article
- The timing of pigmentation lightening in Europeans.Molecular biology and evolution · 2013Article
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The levels of haplotype diversity within the lineages defined by two single-nucleotide polymorphisms (SNPs) (-13910 C/T and -22018 G/A) associated with human lactase persistence were assessed with four fast-evolving microsatellite loci in 794 chromosomes from Portugal, Italy, Fulbe from Cameroon, São Tomé and Mozambique. Age estimates based on the intraallelic microsatellite variation indicate that the -13910*T allele, which is more tightly associated with lactase persistence, originated in Eurasia before the Neolithic and after the emergence of modern humans outside Africa. We detected significant departures from neutrality for the -13910*T variant in geographically and evolutionary distant populations from southern Europe (Portuguese and Italians) and Africa (Fulbe) by using a neutrality test based on the congruence between the frequency of the allele and the levels of intraallelic variability measured by the number of mutations in adjacent microsatellites. This result supports the role of selection in the evolution of lactase persistence, ruling out possible confounding effects from recombination suppression and population history. Reevaluation of the available evidence on variation of the -13910 and -22018 loci indicates that lactase persistence probably originated from different mutations in Europe and most of Africa, even if 13910*T is not the causal allele, suggesting that selective pressure could have promoted the convergent evolution of the trait. Our study shows that a limited number of microsatellite loci may provide sufficient resolution to reconstruct key aspects of the evolutionary history of lactase persistence, providing an alternative to approaches based on large numbers of SNPs.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.