ArticleAmerican journal of human genetics2002
Molecular analysis of the beta-globin gene cluster in the Niokholo Mandenka population reveals a recent origin of the beta(S) Senegal mutation.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 2 of them syntheses that pooled it.
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53 citing papers in PubMed, 2 syntheses or guidelines pooled it, 119 citations in OpenAlex.
- Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese.Nature communications · 2018Pooled it
- Beta-globin gene haplotypes among cameroonians and review of the global distribution: is there a case for a single sickle mutation origin in Africa?Omics : a journal of integrative biology · 2015Pooled it
- Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection.American journal of human genetics · 2004Trial
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- A Deep-Learning Approach for Inference of Selective Sweeps from the Ancestral Recombination Graph.Molecular biology and evolution · 2022Article
- A selection pressure landscape for 870 human polygenic traits.Nature human behaviour · 2021Article
- From Summary Statistics to Gene Trees: Methods for Inferring Positive Selection.Trends in genetics : TIG · 2020Review
- Recent Adaptive Acquisition by African Rainforest Hunter-Gatherers of the Late Pleistocene Sickle-Cell Mutation Suggests Past Differences in Malaria Exposure.American journal of human genetics · 2019Article
- Malaria and Early African Development: Evidence from the Sickle Cell Trait.Economic journal (London, England) · 2018Article
- Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene Wet Phase.American journal of human genetics · 2018Article
- Genetic architecture: the shape of the genetic contribution to human traits and disease.Nature reviews. Genetics · 2018Review
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- Alternative splicing modulated by genetic variants demonstrates accelerated evolution regulated by highly conserved proteins.Genome research · 2016Article
- Genetics of autoimmune diseases: insights from population genetics.Journal of human genetics · 2015Review
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- Obesity susceptibility loci in Qataris, a highly consanguineous Arabian population.Journal of translational medicine · 2015Article
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Authors and funding
8 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A large and ethnically well-defined Mandenka sample from eastern Senegal was analyzed for the polymorphism of the beta-globin gene cluster on chromosome 11. Five RFLP sites of the 5' region were investigated in 193 individuals revealing the presence of 10 different haplotypes. The frequency of the sickle-cell anemia causing mutation (beta(S)) in the Mandenka estimated from this sample is 11.7%. This mutation was found strictly associated with the single Senegal haplotype. Approximately 600 bp of the upstream region of the beta-globin gene were sequenced for a subset of 94 chromosomes, showing the presence of four transversions, five transitions, and a composite microsatellite polymorphism. The sequence of 22 beta(S) chromosomes was also identical to the previously defined Senegal haplotype, suggesting that this mutation is very recent. Monte Carlo simulations (allowing for a specific balancing selection model, a logistic growth of the population, and variable initial frequencies of the Senegal haplotype) were used to estimate the age of the beta(S) mutation. Resulting maximum-likelihood estimates are 45-70 generations (1,350-2,100 years) for very different demographic scenarios. Smallest confidence intervals (25-690 generations) are obtained under the hypothesis that the Mandenka population is large (N(e) >5,000) and stationary or that it has undergone a rapid demographic expansion to a current size of >5,000 reproducing individuals, which is quite likely in view of the great diversity found on beta(A) chromosomes.
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